Incidental Mutation 'R9778:Cep170b'
| ID |
733858 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cep170b
|
| Ensembl Gene |
ENSMUSG00000072825 |
| Gene Name |
centrosomal protein 170B |
| Synonyms |
AW555464 |
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.601)
|
| Stock # |
R9778 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
12 |
| Chromosomal Location |
112687950-112713026 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 112697864 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Asparagine
at position 62
(S62N)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000098580
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000092279]
[ENSMUST00000101018]
[ENSMUST00000179041]
[ENSMUST00000220627]
[ENSMUST00000222711]
|
| AlphaFold |
Q80U49 |
| Predicted Effect |
unknown
Transcript: ENSMUST00000092279
AA Change: S62N
|
| SMART Domains |
Protein: ENSMUSP00000089930
Gene: ENSMUSG00000072825
AA Change: S62N
| Domain | Start | End | E-Value | Type |
|---|
|
FHA
|
22 |
73 |
4.65e-10 |
SMART |
|
Pfam:CEP170_C
|
204 |
598 |
8.9e-174 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000101018
AA Change: S62N
PolyPhen 2
Score 0.931 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000098580
Gene: ENSMUSG00000072825
AA Change: S62N
| Domain | Start | End | E-Value | Type |
|---|
|
FHA
|
22 |
73 |
4.65e-10 |
SMART |
|
low complexity region
|
370 |
382 |
N/A |
INTRINSIC |
|
low complexity region
|
535 |
548 |
N/A |
INTRINSIC |
|
low complexity region
|
676 |
690 |
N/A |
INTRINSIC |
|
low complexity region
|
739 |
757 |
N/A |
INTRINSIC |
|
Pfam:CEP170_C
|
831 |
1514 |
N/A |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000179041
AA Change: S62N
PolyPhen 2
Score 0.931 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000137331
Gene: ENSMUSG00000072825
AA Change: S62N
| Domain | Start | End | E-Value | Type |
|---|
|
FHA
|
22 |
73 |
4.65e-10 |
SMART |
|
low complexity region
|
370 |
382 |
N/A |
INTRINSIC |
|
low complexity region
|
535 |
548 |
N/A |
INTRINSIC |
|
low complexity region
|
676 |
690 |
N/A |
INTRINSIC |
|
low complexity region
|
739 |
757 |
N/A |
INTRINSIC |
|
Pfam:CEP170_C
|
832 |
1510 |
4.3e-303 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000220627
AA Change: S62N
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000222711
AA Change: S62N
PolyPhen 2
Score 0.931 (Sensitivity: 0.81; Specificity: 0.94)
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.8%
- 10x: 99.4%
- 20x: 98.5%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 58 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2310022B05Rik |
A |
T |
8: 125,366,098 (GRCm39) |
I215N |
probably damaging |
Het |
| Aig1 |
T |
C |
10: 13,528,757 (GRCm39) |
|
probably null |
Het |
| Atp8b2 |
T |
A |
3: 89,861,865 (GRCm39) |
K82N |
possibly damaging |
Het |
| Cacnb4 |
T |
G |
2: 52,359,615 (GRCm39) |
Y131S |
probably damaging |
Het |
| Crmp1 |
A |
G |
5: 37,422,619 (GRCm39) |
D142G |
probably benign |
Het |
| Csf1r |
A |
G |
18: 61,260,957 (GRCm39) |
Q716R |
possibly damaging |
Het |
| Cyp2u1 |
T |
C |
3: 131,087,133 (GRCm39) |
T483A |
possibly damaging |
Het |
| D930020B18Rik |
T |
C |
10: 121,503,565 (GRCm39) |
F247L |
probably benign |
Het |
| Dcaf13 |
T |
C |
15: 39,008,586 (GRCm39) |
L396P |
probably damaging |
Het |
| Dnhd1 |
A |
G |
7: 105,353,240 (GRCm39) |
M2798V |
probably benign |
Het |
| E030018B13Rik |
A |
T |
7: 63,569,125 (GRCm39) |
T58S |
unknown |
Het |
| Eipr1 |
T |
C |
12: 28,897,657 (GRCm39) |
|
probably null |
Het |
| Elf1 |
C |
T |
14: 79,817,948 (GRCm39) |
T526M |
possibly damaging |
Het |
| Gm8369 |
GTGTGTGTGTGTGTGTGTGTG |
GTGTGTGTGTGTGTGTGTGTGTG |
19: 11,489,128 (GRCm39) |
|
probably null |
Het |
| Got1 |
A |
G |
19: 43,504,284 (GRCm39) |
S46P |
probably benign |
Het |
| Inpp4b |
T |
C |
8: 82,775,160 (GRCm39) |
I786T |
probably benign |
Het |
| Kdm1a |
T |
C |
4: 136,279,892 (GRCm39) |
I703M |
probably damaging |
Het |
| Krt222 |
A |
T |
11: 99,125,838 (GRCm39) |
S264R |
probably benign |
Het |
| Lrrd1 |
A |
C |
5: 3,899,982 (GRCm39) |
S96R |
possibly damaging |
Het |
| Ltb |
C |
A |
17: 35,414,906 (GRCm39) |
Y235* |
probably null |
Het |
| Mbd2 |
T |
A |
18: 70,751,050 (GRCm39) |
C362S |
probably damaging |
Het |
| Mlycd |
T |
A |
8: 120,129,325 (GRCm39) |
I264N |
probably damaging |
Het |
| Mri1 |
C |
T |
8: 84,980,933 (GRCm39) |
C199Y |
possibly damaging |
Het |
| Muc5ac |
A |
T |
7: 141,349,021 (GRCm39) |
K487* |
probably null |
Het |
| Myh13 |
T |
C |
11: 67,249,016 (GRCm39) |
I1274T |
probably damaging |
Het |
| Ncdn |
G |
A |
4: 126,642,467 (GRCm39) |
R397W |
probably damaging |
Het |
| Ncf1 |
T |
A |
5: 134,258,444 (GRCm39) |
|
probably benign |
Het |
| Nipbl |
C |
A |
15: 8,321,032 (GRCm39) |
A2692S |
probably benign |
Het |
| Odf2l |
C |
T |
3: 144,854,789 (GRCm39) |
T542I |
possibly damaging |
Het |
| Or10a49 |
A |
G |
7: 108,467,698 (GRCm39) |
I221T |
probably damaging |
Het |
| Or10al2 |
T |
A |
17: 37,983,145 (GRCm39) |
I77N |
probably damaging |
Het |
| Oxsm |
T |
C |
14: 16,242,629 (GRCm38) |
T47A |
possibly damaging |
Het |
| Pcdhga3 |
A |
T |
18: 37,807,786 (GRCm39) |
S80C |
probably benign |
Het |
| Pcnx2 |
T |
C |
8: 126,512,176 (GRCm39) |
T1377A |
probably benign |
Het |
| Phactr3 |
C |
A |
2: 177,924,805 (GRCm39) |
Q252K |
possibly damaging |
Het |
| Phf2 |
T |
C |
13: 48,973,101 (GRCm39) |
H385R |
unknown |
Het |
| Pkd1l3 |
A |
T |
8: 110,357,937 (GRCm39) |
T820S |
probably benign |
Het |
| Plekhg1 |
T |
A |
10: 3,887,966 (GRCm39) |
H353Q |
|
Het |
| Prss37 |
T |
A |
6: 40,494,713 (GRCm39) |
E24V |
probably damaging |
Het |
| Reln |
A |
G |
5: 22,155,943 (GRCm39) |
F2183S |
probably damaging |
Het |
| Slc20a2 |
A |
G |
8: 23,051,407 (GRCm39) |
D480G |
probably damaging |
Het |
| Slc8a2 |
C |
T |
7: 15,887,124 (GRCm39) |
T672M |
probably damaging |
Het |
| Slf2 |
A |
G |
19: 44,961,666 (GRCm39) |
T1062A |
probably benign |
Het |
| Snx29 |
A |
G |
16: 11,223,609 (GRCm39) |
E18G |
possibly damaging |
Het |
| Spata31e1 |
C |
T |
13: 49,939,542 (GRCm39) |
V723M |
possibly damaging |
Het |
| Srf |
C |
A |
17: 46,860,079 (GRCm39) |
G482V |
possibly damaging |
Het |
| Styk1 |
G |
A |
6: 131,287,992 (GRCm39) |
Q124* |
probably null |
Het |
| Tcf7l1 |
G |
T |
6: 72,608,226 (GRCm39) |
A385E |
probably damaging |
Het |
| Thbs4 |
A |
G |
13: 92,913,495 (GRCm39) |
S142P |
probably benign |
Het |
| Tlr1 |
G |
A |
5: 65,083,371 (GRCm39) |
S402F |
probably damaging |
Het |
| Tnrc6a |
A |
G |
7: 122,769,635 (GRCm39) |
H475R |
probably benign |
Het |
| Trmt10b |
A |
T |
4: 45,314,374 (GRCm39) |
N272I |
probably damaging |
Het |
| Ubxn7 |
A |
T |
16: 32,200,471 (GRCm39) |
N409I |
probably benign |
Het |
| Vcan |
T |
C |
13: 89,837,930 (GRCm39) |
E2538G |
probably damaging |
Het |
| Vmn1r65 |
C |
T |
7: 6,011,387 (GRCm39) |
W282* |
probably null |
Het |
| Vmn2r4 |
A |
G |
3: 64,322,497 (GRCm39) |
I74T |
probably benign |
Het |
| Wdr97 |
T |
A |
15: 76,241,125 (GRCm39) |
F574I |
|
Het |
| Zfp949 |
T |
C |
9: 88,449,340 (GRCm39) |
|
probably null |
Het |
|
| Other mutations in Cep170b |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00435:Cep170b
|
APN |
12 |
112,701,628 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01313:Cep170b
|
APN |
12 |
112,702,086 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01317:Cep170b
|
APN |
12 |
112,704,078 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01660:Cep170b
|
APN |
12 |
112,710,594 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02032:Cep170b
|
APN |
12 |
112,703,767 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL02505:Cep170b
|
APN |
12 |
112,709,504 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02966:Cep170b
|
APN |
12 |
112,702,878 (GRCm39) |
missense |
possibly damaging |
0.75 |
|
IGL03111:Cep170b
|
APN |
12 |
112,701,613 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03367:Cep170b
|
APN |
12 |
112,703,672 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0348:Cep170b
|
UTSW |
12 |
112,703,240 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0562:Cep170b
|
UTSW |
12 |
112,705,623 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0909:Cep170b
|
UTSW |
12 |
112,698,473 (GRCm39) |
missense |
probably null |
0.06 |
|
R1217:Cep170b
|
UTSW |
12 |
112,707,339 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1300:Cep170b
|
UTSW |
12 |
112,703,691 (GRCm39) |
missense |
probably benign |
0.02 |
|
R1647:Cep170b
|
UTSW |
12 |
112,702,806 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1648:Cep170b
|
UTSW |
12 |
112,702,806 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1652:Cep170b
|
UTSW |
12 |
112,699,947 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1737:Cep170b
|
UTSW |
12 |
112,703,061 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
R1936:Cep170b
|
UTSW |
12 |
112,702,172 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1962:Cep170b
|
UTSW |
12 |
112,704,495 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2094:Cep170b
|
UTSW |
12 |
112,702,164 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R2208:Cep170b
|
UTSW |
12 |
112,705,419 (GRCm39) |
missense |
probably benign |
0.00 |
|
R3418:Cep170b
|
UTSW |
12 |
112,704,902 (GRCm39) |
nonsense |
probably null |
|
|
R3735:Cep170b
|
UTSW |
12 |
112,707,438 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3736:Cep170b
|
UTSW |
12 |
112,707,438 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4299:Cep170b
|
UTSW |
12 |
112,705,739 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4577:Cep170b
|
UTSW |
12 |
112,711,152 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5199:Cep170b
|
UTSW |
12 |
112,710,581 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5512:Cep170b
|
UTSW |
12 |
112,699,919 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R5575:Cep170b
|
UTSW |
12 |
112,702,066 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5643:Cep170b
|
UTSW |
12 |
112,707,275 (GRCm39) |
missense |
probably benign |
0.35 |
|
R6074:Cep170b
|
UTSW |
12 |
112,710,589 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6265:Cep170b
|
UTSW |
12 |
112,710,993 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6371:Cep170b
|
UTSW |
12 |
112,707,379 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6376:Cep170b
|
UTSW |
12 |
112,698,502 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7055:Cep170b
|
UTSW |
12 |
112,702,149 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7137:Cep170b
|
UTSW |
12 |
112,701,601 (GRCm39) |
missense |
probably benign |
|
|
R7226:Cep170b
|
UTSW |
12 |
112,704,359 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R7615:Cep170b
|
UTSW |
12 |
112,711,099 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7831:Cep170b
|
UTSW |
12 |
112,711,234 (GRCm39) |
missense |
probably benign |
0.08 |
|
R8178:Cep170b
|
UTSW |
12 |
112,705,719 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R8492:Cep170b
|
UTSW |
12 |
112,711,134 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8838:Cep170b
|
UTSW |
12 |
112,710,159 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8859:Cep170b
|
UTSW |
12 |
112,702,881 (GRCm39) |
missense |
probably benign |
|
|
R9573:Cep170b
|
UTSW |
12 |
112,691,154 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9643:Cep170b
|
UTSW |
12 |
112,704,045 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9694:Cep170b
|
UTSW |
12 |
112,701,993 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9783:Cep170b
|
UTSW |
12 |
112,711,118 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1176:Cep170b
|
UTSW |
12 |
112,707,446 (GRCm39) |
critical splice donor site |
probably null |
|
|
| Predicted Primers |
PCR Primer
(F):5'- AGGATCTTTGAGTCCCAGGG -3'
(R):5'- GGACCAAAGTATAGGACACGTTC -3'
Sequencing Primer
(F):5'- ATCTTTGAGTCCCAGGGGTGTTG -3'
(R):5'- TGCTGCTTTCCCGGGAAC -3'
|
| Posted On |
2022-11-14 |
Incidental Mutation