Incidental Mutation 'R5057:Cep295'
| ID |
390936 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cep295
|
| Ensembl Gene |
ENSMUSG00000046111 |
| Gene Name |
centrosomal protein 295 |
| Synonyms |
5830418K08Rik, LOC382128 |
| MMRRC Submission |
042647-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.952)
|
| Stock # |
R5057 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
9 |
| Chromosomal Location |
15228211-15269084 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 15233979 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Glutamine
at position 2272
(H2272Q)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000123788
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000098979]
[ENSMUST00000161132]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000058041
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000059410
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000098979
AA Change: H2192Q
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000096578
Gene: ENSMUSG00000046111
AA Change: H2192Q
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
159 |
175 |
N/A |
INTRINSIC |
|
coiled coil region
|
258 |
288 |
N/A |
INTRINSIC |
|
coiled coil region
|
536 |
583 |
N/A |
INTRINSIC |
|
coiled coil region
|
861 |
889 |
N/A |
INTRINSIC |
|
internal_repeat_1
|
890 |
1104 |
6.8e-5 |
PROSPERO |
|
internal_repeat_1
|
1277 |
1489 |
6.8e-5 |
PROSPERO |
|
low complexity region
|
1537 |
1548 |
N/A |
INTRINSIC |
|
low complexity region
|
1611 |
1625 |
N/A |
INTRINSIC |
|
coiled coil region
|
1707 |
1736 |
N/A |
INTRINSIC |
|
low complexity region
|
2003 |
2018 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000104206
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000104318
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000159156
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000160238
|
| Predicted Effect |
|
| SMART Domains |
Protein: ENSMUSP00000125035
Gene: ENSMUSG00000046111
AA Change: H2144Q
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
111 |
127 |
N/A |
INTRINSIC |
|
coiled coil region
|
210 |
240 |
N/A |
INTRINSIC |
|
coiled coil region
|
488 |
535 |
N/A |
INTRINSIC |
|
coiled coil region
|
813 |
841 |
N/A |
INTRINSIC |
|
internal_repeat_1
|
842 |
1056 |
7.14e-5 |
PROSPERO |
|
internal_repeat_1
|
1229 |
1441 |
7.14e-5 |
PROSPERO |
|
low complexity region
|
1489 |
1500 |
N/A |
INTRINSIC |
|
low complexity region
|
1563 |
1577 |
N/A |
INTRINSIC |
|
coiled coil region
|
1659 |
1688 |
N/A |
INTRINSIC |
|
low complexity region
|
1955 |
1970 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000161132
AA Change: H2272Q
PolyPhen 2
Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
|
| SMART Domains |
Protein: ENSMUSP00000123788
Gene: ENSMUSG00000046111
AA Change: H2272Q
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
111 |
127 |
N/A |
INTRINSIC |
|
coiled coil region
|
210 |
240 |
N/A |
INTRINSIC |
|
coiled coil region
|
488 |
535 |
N/A |
INTRINSIC |
|
coiled coil region
|
813 |
841 |
N/A |
INTRINSIC |
|
coiled coil region
|
1300 |
1327 |
N/A |
INTRINSIC |
|
low complexity region
|
1489 |
1500 |
N/A |
INTRINSIC |
|
low complexity region
|
1563 |
1577 |
N/A |
INTRINSIC |
|
coiled coil region
|
1659 |
1688 |
N/A |
INTRINSIC |
|
low complexity region
|
2035 |
2050 |
N/A |
INTRINSIC |
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000160946
AA Change: H1016Q
|
| SMART Domains |
Protein: ENSMUSP00000125494
Gene: ENSMUSG00000046111
AA Change: H1016Q
| Domain | Start | End | E-Value | Type |
|---|
|
coiled coil region
|
92 |
119 |
N/A |
INTRINSIC |
|
low complexity region
|
282 |
293 |
N/A |
INTRINSIC |
|
low complexity region
|
356 |
370 |
N/A |
INTRINSIC |
|
coiled coil region
|
451 |
480 |
N/A |
INTRINSIC |
|
low complexity region
|
828 |
843 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000161533
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000214427
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000214696
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000217140
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000217407
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000162264
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.3%
- 10x: 96.2%
- 20x: 92.0%
|
| Validation Efficiency |
97% (118/122) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 120 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4933427D14Rik |
A |
T |
11: 72,057,581 (GRCm39) |
H739Q |
probably benign |
Het |
| Acad12 |
T |
A |
5: 121,748,152 (GRCm39) |
T89S |
probably benign |
Het |
| Adgb |
A |
G |
10: 10,233,722 (GRCm39) |
C1252R |
probably benign |
Het |
| Ankef1 |
A |
G |
2: 136,392,280 (GRCm39) |
|
probably null |
Het |
| Ankfy1 |
T |
C |
11: 72,650,745 (GRCm39) |
L976P |
probably damaging |
Het |
| Ankib1 |
T |
A |
5: 3,784,011 (GRCm39) |
I322F |
possibly damaging |
Het |
| Ankrd61 |
T |
A |
5: 143,831,613 (GRCm39) |
T64S |
probably benign |
Het |
| Anxa6 |
T |
G |
11: 54,892,062 (GRCm39) |
E298A |
possibly damaging |
Het |
| Apc2 |
A |
G |
10: 80,144,903 (GRCm39) |
S605G |
probably damaging |
Het |
| Arih1 |
T |
C |
9: 59,393,515 (GRCm39) |
N39S |
unknown |
Het |
| Bicc1 |
A |
G |
10: 70,783,713 (GRCm39) |
S393P |
possibly damaging |
Het |
| Bptf |
A |
T |
11: 106,973,354 (GRCm39) |
F693L |
probably damaging |
Het |
| Cacng4 |
A |
G |
11: 107,685,197 (GRCm39) |
Y32H |
probably damaging |
Het |
| Ccdc50 |
T |
A |
16: 27,257,092 (GRCm39) |
D252E |
probably benign |
Het |
| Ccdc92b |
C |
A |
11: 74,528,976 (GRCm39) |
T160K |
probably damaging |
Het |
| Cd163 |
C |
T |
6: 124,302,247 (GRCm39) |
T937I |
probably damaging |
Het |
| Cdh22 |
C |
A |
2: 164,958,063 (GRCm39) |
V635F |
probably damaging |
Het |
| Cenpe |
G |
T |
3: 134,926,074 (GRCm39) |
A243S |
probably benign |
Het |
| Cgnl1 |
A |
T |
9: 71,632,076 (GRCm39) |
V425D |
probably damaging |
Het |
| Clec4b2 |
A |
T |
6: 123,177,915 (GRCm39) |
S77C |
probably null |
Het |
| Cntnap5a |
C |
T |
1: 115,612,943 (GRCm39) |
T26I |
probably benign |
Het |
| Col6a3 |
T |
C |
1: 90,743,852 (GRCm39) |
K165R |
possibly damaging |
Het |
| Copb1 |
A |
T |
7: 113,825,997 (GRCm39) |
N662K |
probably benign |
Het |
| Crybg1 |
T |
A |
10: 43,865,104 (GRCm39) |
R1458* |
probably null |
Het |
| Cspp1 |
T |
A |
1: 10,145,186 (GRCm39) |
|
probably benign |
Het |
| Dhtkd1 |
A |
G |
2: 5,924,324 (GRCm39) |
C430R |
probably damaging |
Het |
| Dlg5 |
T |
C |
14: 24,186,690 (GRCm39) |
E1847G |
probably damaging |
Het |
| Dync2i1 |
A |
T |
12: 116,177,033 (GRCm39) |
N856K |
probably benign |
Het |
| Eif1ad16 |
A |
T |
12: 87,985,481 (GRCm39) |
S21T |
unknown |
Het |
| Ephb3 |
A |
G |
16: 21,039,197 (GRCm39) |
D351G |
probably damaging |
Het |
| Exd2 |
T |
A |
12: 80,543,564 (GRCm39) |
N582K |
probably damaging |
Het |
| Fam161a |
T |
A |
11: 22,970,397 (GRCm39) |
C192S |
probably damaging |
Het |
| Fbn1 |
A |
G |
2: 125,308,615 (GRCm39) |
V149A |
probably benign |
Het |
| Fbxw16 |
A |
G |
9: 109,270,232 (GRCm39) |
S170P |
probably damaging |
Het |
| Fndc1 |
T |
A |
17: 7,990,802 (GRCm39) |
R965* |
probably null |
Het |
| Frem2 |
T |
C |
3: 53,442,617 (GRCm39) |
D2640G |
probably benign |
Het |
| Gfm1 |
T |
C |
3: 67,380,877 (GRCm39) |
V664A |
probably damaging |
Het |
| Gm10803 |
A |
C |
2: 93,394,517 (GRCm39) |
L96F |
probably damaging |
Het |
| Gm14569 |
T |
C |
X: 35,694,470 (GRCm39) |
D1413G |
probably benign |
Het |
| Gm44501 |
A |
G |
17: 40,889,563 (GRCm39) |
T26A |
probably benign |
Het |
| Gpc4 |
G |
A |
X: 51,163,440 (GRCm39) |
R148C |
probably damaging |
Het |
| Gpsm1 |
G |
A |
2: 26,215,369 (GRCm39) |
R277Q |
probably damaging |
Het |
| Inmt |
T |
A |
6: 55,151,883 (GRCm39) |
H29L |
probably benign |
Het |
| Insrr |
T |
A |
3: 87,722,572 (GRCm39) |
C1265S |
probably benign |
Het |
| Kctd12 |
A |
G |
14: 103,219,045 (GRCm39) |
F278L |
possibly damaging |
Het |
| Klk14 |
G |
A |
7: 43,341,501 (GRCm39) |
C51Y |
probably damaging |
Het |
| Lag3 |
T |
A |
6: 124,882,318 (GRCm39) |
I393F |
possibly damaging |
Het |
| Lama2 |
C |
T |
10: 27,040,982 (GRCm39) |
C1447Y |
probably damaging |
Het |
| Lama3 |
G |
A |
18: 12,665,005 (GRCm39) |
G2275S |
probably null |
Het |
| Lrrc17 |
A |
T |
5: 21,780,307 (GRCm39) |
H427L |
probably benign |
Het |
| Med13l |
T |
A |
5: 118,856,558 (GRCm39) |
S164T |
probably damaging |
Het |
| Milr1 |
A |
G |
11: 106,657,791 (GRCm39) |
D131G |
possibly damaging |
Het |
| Myo5c |
A |
T |
9: 75,208,155 (GRCm39) |
T1630S |
probably damaging |
Het |
| Nbeal2 |
A |
T |
9: 110,460,073 (GRCm39) |
N1848K |
probably damaging |
Het |
| Ncor2 |
A |
T |
5: 125,125,130 (GRCm39) |
V307E |
possibly damaging |
Het |
| Ndufs3 |
C |
A |
2: 90,729,004 (GRCm39) |
A161S |
probably benign |
Het |
| Neo1 |
T |
C |
9: 58,897,554 (GRCm39) |
D134G |
probably damaging |
Het |
| Nexmif |
A |
T |
X: 103,130,956 (GRCm39) |
N320K |
probably damaging |
Het |
| Nipal3 |
T |
A |
4: 135,194,167 (GRCm39) |
I289F |
probably damaging |
Het |
| Nrg4 |
A |
G |
9: 55,189,880 (GRCm39) |
|
probably benign |
Het |
| Nrxn3 |
A |
T |
12: 89,221,804 (GRCm39) |
I528F |
probably damaging |
Het |
| Or11h23 |
A |
C |
14: 50,948,669 (GRCm39) |
N294T |
probably damaging |
Het |
| Or3a10 |
T |
A |
11: 73,935,881 (GRCm39) |
D73V |
probably damaging |
Het |
| Pate2 |
T |
C |
9: 35,597,407 (GRCm39) |
|
probably benign |
Het |
| Pcnx2 |
T |
C |
8: 126,581,930 (GRCm39) |
I935M |
possibly damaging |
Het |
| Pik3c2a |
G |
T |
7: 115,975,518 (GRCm39) |
T683K |
possibly damaging |
Het |
| Pip5k1c |
G |
A |
10: 81,146,723 (GRCm39) |
|
probably null |
Het |
| Pkd1l2 |
G |
A |
8: 117,781,747 (GRCm39) |
T766I |
probably benign |
Het |
| Polr3c |
C |
A |
3: 96,619,373 (GRCm39) |
L508F |
probably damaging |
Het |
| Por |
A |
G |
5: 135,759,756 (GRCm39) |
D189G |
probably damaging |
Het |
| Potefam1 |
A |
T |
2: 111,055,766 (GRCm39) |
F207I |
probably benign |
Het |
| Prim2 |
A |
T |
1: 33,669,441 (GRCm39) |
L178* |
probably null |
Het |
| Prima1 |
C |
A |
12: 103,168,864 (GRCm39) |
|
probably null |
Het |
| Ptpn21 |
G |
A |
12: 98,645,666 (GRCm39) |
R1091C |
probably damaging |
Het |
| Ptpn23 |
G |
A |
9: 110,217,624 (GRCm39) |
T744I |
probably benign |
Het |
| Rad21 |
A |
T |
15: 51,830,102 (GRCm39) |
I503K |
probably benign |
Het |
| Rbm12 |
A |
T |
2: 155,938,806 (GRCm39) |
C489S |
probably benign |
Het |
| Rpl10a |
A |
T |
17: 28,549,607 (GRCm39) |
H140L |
probably benign |
Het |
| Rpl7-ps8 |
A |
T |
15: 59,083,004 (GRCm39) |
|
noncoding transcript |
Het |
| Rtbdn |
T |
C |
8: 85,681,638 (GRCm39) |
F143S |
probably damaging |
Het |
| Scamp3 |
T |
A |
3: 89,089,600 (GRCm39) |
|
probably benign |
Het |
| Setd5 |
A |
G |
6: 113,114,922 (GRCm39) |
S848G |
probably damaging |
Het |
| Sez6 |
T |
C |
11: 77,863,979 (GRCm39) |
V487A |
probably damaging |
Het |
| Shc2 |
G |
A |
10: 79,459,706 (GRCm39) |
P413S |
probably benign |
Het |
| Sipa1l3 |
T |
C |
7: 29,070,618 (GRCm39) |
N966S |
probably damaging |
Het |
| Slc39a8 |
A |
G |
3: 135,554,790 (GRCm39) |
E78G |
probably benign |
Het |
| Slc8a3 |
A |
G |
12: 81,246,332 (GRCm39) |
V900A |
probably damaging |
Het |
| Slitrk3 |
T |
C |
3: 72,957,981 (GRCm39) |
T264A |
probably benign |
Het |
| Spire2 |
G |
A |
8: 124,084,940 (GRCm39) |
R260H |
probably damaging |
Het |
| Stk39 |
T |
A |
2: 68,051,292 (GRCm39) |
I518F |
probably damaging |
Het |
| Tardbp |
T |
A |
4: 148,703,813 (GRCm39) |
|
probably null |
Het |
| Tep1 |
A |
G |
14: 51,066,456 (GRCm39) |
Y2335H |
probably benign |
Het |
| Tesl1 |
G |
A |
X: 23,773,480 (GRCm39) |
G327E |
probably damaging |
Het |
| Tll2 |
A |
G |
19: 41,105,705 (GRCm39) |
V358A |
probably benign |
Het |
| Tmem268 |
C |
G |
4: 63,486,777 (GRCm39) |
S100C |
probably damaging |
Het |
| Tnfsf9 |
A |
G |
17: 57,412,444 (GRCm39) |
T5A |
probably benign |
Het |
| Trappc10 |
G |
T |
10: 78,052,994 (GRCm39) |
F260L |
possibly damaging |
Het |
| Trim5 |
A |
G |
7: 103,914,630 (GRCm39) |
Y480H |
probably damaging |
Het |
| Trmt112 |
T |
C |
19: 6,888,121 (GRCm39) |
V91A |
probably benign |
Het |
| Ttn |
T |
A |
2: 76,577,379 (GRCm39) |
K22759* |
probably null |
Het |
| Ttn |
C |
A |
2: 76,748,988 (GRCm39) |
L4020F |
probably benign |
Het |
| Ubash3b |
A |
G |
9: 40,948,755 (GRCm39) |
C187R |
possibly damaging |
Het |
| Ube3b |
T |
C |
5: 114,544,318 (GRCm39) |
F572L |
probably benign |
Het |
| Ubr5 |
A |
G |
15: 38,004,353 (GRCm39) |
V1332A |
probably damaging |
Het |
| Ubtd2 |
C |
A |
11: 32,466,320 (GRCm39) |
R180S |
probably damaging |
Het |
| Ubtf |
A |
G |
11: 102,197,913 (GRCm39) |
S673P |
probably damaging |
Het |
| Ubtfl1 |
A |
T |
9: 18,320,487 (GRCm39) |
D5V |
possibly damaging |
Het |
| Usp17la |
G |
A |
7: 104,510,330 (GRCm39) |
V312I |
possibly damaging |
Het |
| Usp17ld |
G |
T |
7: 102,899,655 (GRCm39) |
H426N |
probably benign |
Het |
| Usp34 |
A |
G |
11: 23,408,086 (GRCm39) |
|
probably benign |
Het |
| Vmn1r199 |
A |
T |
13: 22,567,575 (GRCm39) |
T290S |
possibly damaging |
Het |
| Vmn1r33 |
T |
C |
6: 66,589,089 (GRCm39) |
N155S |
probably benign |
Het |
| Vmn2r28 |
T |
A |
7: 5,489,463 (GRCm39) |
I459L |
probably benign |
Het |
| Vmn2r6 |
T |
A |
3: 64,445,207 (GRCm39) |
K839N |
probably damaging |
Het |
| Vmn2r65 |
A |
G |
7: 84,589,819 (GRCm39) |
I699T |
probably damaging |
Het |
| Vps16 |
A |
G |
2: 130,281,372 (GRCm39) |
S235G |
probably benign |
Het |
| Vwde |
T |
C |
6: 13,192,641 (GRCm39) |
I421V |
possibly damaging |
Het |
| Xiap |
T |
C |
X: 41,183,342 (GRCm39) |
F23L |
probably benign |
Het |
| Xkr7 |
A |
G |
2: 152,896,300 (GRCm39) |
T385A |
probably benign |
Het |
| Znfx1 |
T |
C |
2: 166,881,746 (GRCm39) |
Y217C |
probably damaging |
Het |
|
| Other mutations in Cep295 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00337:Cep295
|
APN |
9 |
15,237,368 (GRCm39) |
splice site |
probably null |
|
|
IGL00769:Cep295
|
APN |
9 |
15,237,440 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL00771:Cep295
|
APN |
9 |
15,233,861 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL00850:Cep295
|
APN |
9 |
15,234,148 (GRCm39) |
missense |
probably benign |
0.36 |
|
IGL01505:Cep295
|
APN |
9 |
15,229,345 (GRCm39) |
missense |
probably benign |
0.08 |
|
IGL01510:Cep295
|
APN |
9 |
15,265,922 (GRCm39) |
nonsense |
probably null |
|
|
IGL01759:Cep295
|
APN |
9 |
15,234,855 (GRCm39) |
splice site |
probably null |
|
|
IGL02415:Cep295
|
APN |
9 |
15,264,316 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02447:Cep295
|
APN |
9 |
15,243,807 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL02502:Cep295
|
APN |
9 |
15,262,209 (GRCm39) |
splice site |
probably benign |
|
|
IGL02665:Cep295
|
APN |
9 |
15,237,928 (GRCm39) |
splice site |
probably benign |
|
|
IGL02718:Cep295
|
APN |
9 |
15,237,049 (GRCm39) |
splice site |
probably null |
|
|
IGL02995:Cep295
|
APN |
9 |
15,244,608 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03024:Cep295
|
APN |
9 |
15,236,868 (GRCm39) |
missense |
probably benign |
|
|
R0196:Cep295
|
UTSW |
9 |
15,249,509 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R0398:Cep295
|
UTSW |
9 |
15,266,032 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R0595:Cep295
|
UTSW |
9 |
15,243,487 (GRCm39) |
nonsense |
probably null |
|
|
R0610:Cep295
|
UTSW |
9 |
15,234,050 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R0616:Cep295
|
UTSW |
9 |
15,243,618 (GRCm39) |
nonsense |
probably null |
|
|
R0840:Cep295
|
UTSW |
9 |
15,245,611 (GRCm39) |
missense |
probably benign |
0.02 |
|
R1215:Cep295
|
UTSW |
9 |
15,239,178 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1376:Cep295
|
UTSW |
9 |
15,252,164 (GRCm39) |
splice site |
probably benign |
|
|
R1381:Cep295
|
UTSW |
9 |
15,233,861 (GRCm39) |
missense |
probably benign |
0.02 |
|
R1484:Cep295
|
UTSW |
9 |
15,246,080 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1557:Cep295
|
UTSW |
9 |
15,243,306 (GRCm39) |
nonsense |
probably null |
|
|
R1655:Cep295
|
UTSW |
9 |
15,252,179 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1682:Cep295
|
UTSW |
9 |
15,245,217 (GRCm39) |
missense |
probably benign |
0.02 |
|
R1700:Cep295
|
UTSW |
9 |
15,252,179 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1734:Cep295
|
UTSW |
9 |
15,252,179 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1736:Cep295
|
UTSW |
9 |
15,252,179 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1743:Cep295
|
UTSW |
9 |
15,252,179 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1765:Cep295
|
UTSW |
9 |
15,239,200 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1889:Cep295
|
UTSW |
9 |
15,243,399 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R1895:Cep295
|
UTSW |
9 |
15,243,399 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R1994:Cep295
|
UTSW |
9 |
15,252,179 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1995:Cep295
|
UTSW |
9 |
15,252,179 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2071:Cep295
|
UTSW |
9 |
15,252,860 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2161:Cep295
|
UTSW |
9 |
15,264,354 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2195:Cep295
|
UTSW |
9 |
15,243,617 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2354:Cep295
|
UTSW |
9 |
15,246,080 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R2427:Cep295
|
UTSW |
9 |
15,245,534 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2992:Cep295
|
UTSW |
9 |
15,244,043 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3873:Cep295
|
UTSW |
9 |
15,244,661 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3981:Cep295
|
UTSW |
9 |
15,228,363 (GRCm39) |
utr 3 prime |
probably benign |
|
|
R4201:Cep295
|
UTSW |
9 |
15,243,834 (GRCm39) |
missense |
probably benign |
0.19 |
|
R4297:Cep295
|
UTSW |
9 |
15,233,950 (GRCm39) |
missense |
probably benign |
0.19 |
|
R4543:Cep295
|
UTSW |
9 |
15,246,549 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R4584:Cep295
|
UTSW |
9 |
15,246,095 (GRCm39) |
missense |
possibly damaging |
0.96 |
|
R4724:Cep295
|
UTSW |
9 |
15,242,128 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4878:Cep295
|
UTSW |
9 |
15,246,252 (GRCm39) |
missense |
probably benign |
0.11 |
|
R4884:Cep295
|
UTSW |
9 |
15,263,056 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4934:Cep295
|
UTSW |
9 |
15,244,456 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R4990:Cep295
|
UTSW |
9 |
15,243,434 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5153:Cep295
|
UTSW |
9 |
15,268,925 (GRCm39) |
missense |
probably benign |
0.32 |
|
R5180:Cep295
|
UTSW |
9 |
15,243,416 (GRCm39) |
missense |
probably benign |
|
|
R5285:Cep295
|
UTSW |
9 |
15,233,887 (GRCm39) |
missense |
probably benign |
0.14 |
|
R5360:Cep295
|
UTSW |
9 |
15,238,029 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5419:Cep295
|
UTSW |
9 |
15,235,533 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R5432:Cep295
|
UTSW |
9 |
15,262,991 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R5625:Cep295
|
UTSW |
9 |
15,252,187 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5637:Cep295
|
UTSW |
9 |
15,245,108 (GRCm39) |
splice site |
probably null |
|
|
R5645:Cep295
|
UTSW |
9 |
15,246,404 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R5645:Cep295
|
UTSW |
9 |
15,244,090 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R5678:Cep295
|
UTSW |
9 |
15,234,154 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5688:Cep295
|
UTSW |
9 |
15,243,282 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5807:Cep295
|
UTSW |
9 |
15,243,828 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5824:Cep295
|
UTSW |
9 |
15,236,952 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R5837:Cep295
|
UTSW |
9 |
15,258,280 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5915:Cep295
|
UTSW |
9 |
15,252,775 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5988:Cep295
|
UTSW |
9 |
15,252,770 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6239:Cep295
|
UTSW |
9 |
15,233,927 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
R6332:Cep295
|
UTSW |
9 |
15,246,210 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R6383:Cep295
|
UTSW |
9 |
15,244,050 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6737:Cep295
|
UTSW |
9 |
15,243,647 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R6929:Cep295
|
UTSW |
9 |
15,244,358 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7428:Cep295
|
UTSW |
9 |
15,244,794 (GRCm39) |
missense |
possibly damaging |
0.61 |
|
R7697:Cep295
|
UTSW |
9 |
15,266,006 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7963:Cep295
|
UTSW |
9 |
15,244,737 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R8055:Cep295
|
UTSW |
9 |
15,244,905 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8069:Cep295
|
UTSW |
9 |
15,233,882 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R8092:Cep295
|
UTSW |
9 |
15,244,278 (GRCm39) |
missense |
probably benign |
0.17 |
|
R8117:Cep295
|
UTSW |
9 |
15,245,660 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8140:Cep295
|
UTSW |
9 |
15,252,829 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8178:Cep295
|
UTSW |
9 |
15,244,836 (GRCm39) |
missense |
|
|
|
R8323:Cep295
|
UTSW |
9 |
15,264,357 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R8323:Cep295
|
UTSW |
9 |
15,249,529 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R8339:Cep295
|
UTSW |
9 |
15,236,846 (GRCm39) |
missense |
|
|
|
R8351:Cep295
|
UTSW |
9 |
15,234,202 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8367:Cep295
|
UTSW |
9 |
15,245,826 (GRCm39) |
missense |
probably benign |
0.09 |
|
R8725:Cep295
|
UTSW |
9 |
15,243,715 (GRCm39) |
nonsense |
probably null |
|
|
R8919:Cep295
|
UTSW |
9 |
15,238,007 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9015:Cep295
|
UTSW |
9 |
15,244,264 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9054:Cep295
|
UTSW |
9 |
15,235,551 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R9088:Cep295
|
UTSW |
9 |
15,233,815 (GRCm39) |
missense |
probably benign |
0.09 |
|
R9159:Cep295
|
UTSW |
9 |
15,252,904 (GRCm39) |
missense |
probably benign |
0.05 |
|
R9243:Cep295
|
UTSW |
9 |
15,243,605 (GRCm39) |
missense |
probably benign |
0.36 |
|
R9408:Cep295
|
UTSW |
9 |
15,244,619 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9424:Cep295
|
UTSW |
9 |
15,244,499 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R9455:Cep295
|
UTSW |
9 |
15,245,046 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R9607:Cep295
|
UTSW |
9 |
15,234,009 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R9648:Cep295
|
UTSW |
9 |
15,234,903 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9659:Cep295
|
UTSW |
9 |
15,233,846 (GRCm39) |
missense |
probably benign |
0.19 |
|
R9731:Cep295
|
UTSW |
9 |
15,245,262 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
X0065:Cep295
|
UTSW |
9 |
15,234,187 (GRCm39) |
missense |
probably benign |
0.36 |
|
Z1176:Cep295
|
UTSW |
9 |
15,268,993 (GRCm39) |
missense |
probably damaging |
0.99 |
|
Z1177:Cep295
|
UTSW |
9 |
15,242,113 (GRCm39) |
missense |
|
|
|
| Predicted Primers |
PCR Primer
(F):5'- TAGGGCTCCGAAATGGACAG -3'
(R):5'- TCAACAGAGGATTTGACTCCAGC -3'
Sequencing Primer
(F):5'- GACAGGATTTTAATATGTGCTCTGC -3'
(R):5'- AGAGGATTTGACTCCAGCTTGCAG -3'
|
| Posted On |
2016-06-06 |
Incidental Mutation