Incidental Mutation 'R5903:Cep97'
| ID |
456470 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cep97
|
| Ensembl Gene |
ENSMUSG00000022604 |
| Gene Name |
centrosomal protein 97 |
| Synonyms |
Lrriq2, 4932439K18Rik, E130116N02Rik, 2810403B08Rik |
| MMRRC Submission |
044101-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R5903 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
16 |
| Chromosomal Location |
55720251-55755218 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 55739889 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Leucine
at position 185
(S185L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000112663
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000023270]
[ENSMUST00000117468]
[ENSMUST00000118500]
[ENSMUST00000121129]
[ENSMUST00000122280]
|
| AlphaFold |
Q9CZ62 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000023270
AA Change: S257L
PolyPhen 2
Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)
|
| SMART Domains |
Protein: ENSMUSP00000023270
Gene: ENSMUSG00000022604
AA Change: S257L
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:LRR_9
|
98 |
259 |
1.8e-12 |
PFAM |
|
IQ
|
549 |
571 |
2e-1 |
SMART |
|
coiled coil region
|
576 |
609 |
N/A |
INTRINSIC |
|
low complexity region
|
661 |
673 |
N/A |
INTRINSIC |
|
low complexity region
|
715 |
728 |
N/A |
INTRINSIC |
|
low complexity region
|
775 |
789 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000117468
AA Change: S185L
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000112687
Gene: ENSMUSG00000022604
AA Change: S185L
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:LRR_9
|
7 |
187 |
4.1e-12 |
PFAM |
|
Pfam:LRR_8
|
30 |
86 |
1e-7 |
PFAM |
|
Pfam:LRR_4
|
52 |
94 |
3.6e-8 |
PFAM |
|
Pfam:LRR_1
|
53 |
73 |
1.3e-2 |
PFAM |
|
IQ
|
477 |
499 |
2e-1 |
SMART |
|
coiled coil region
|
504 |
537 |
N/A |
INTRINSIC |
|
low complexity region
|
589 |
601 |
N/A |
INTRINSIC |
|
low complexity region
|
643 |
656 |
N/A |
INTRINSIC |
|
low complexity region
|
703 |
717 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000118500
AA Change: S185L
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000112663
Gene: ENSMUSG00000022604
AA Change: S185L
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:LRR_9
|
7 |
187 |
4.1e-12 |
PFAM |
|
Pfam:LRR_8
|
30 |
86 |
1e-7 |
PFAM |
|
Pfam:LRR_4
|
52 |
94 |
3.6e-8 |
PFAM |
|
Pfam:LRR_1
|
53 |
73 |
1.3e-2 |
PFAM |
|
IQ
|
477 |
499 |
2e-1 |
SMART |
|
coiled coil region
|
504 |
537 |
N/A |
INTRINSIC |
|
low complexity region
|
589 |
601 |
N/A |
INTRINSIC |
|
low complexity region
|
643 |
656 |
N/A |
INTRINSIC |
|
low complexity region
|
703 |
717 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000121129
|
| SMART Domains |
Protein: ENSMUSP00000112502
Gene: ENSMUSG00000022604
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:LRR_6
|
79 |
103 |
2.8e-2 |
PFAM |
|
Pfam:LRR_4
|
80 |
122 |
4.4e-8 |
PFAM |
|
Pfam:LRR_8
|
80 |
136 |
7.2e-10 |
PFAM |
|
Pfam:LRR_8
|
102 |
152 |
8.5e-8 |
PFAM |
|
Pfam:LRR_1
|
103 |
123 |
5.2e-2 |
PFAM |
|
Pfam:LRR_6
|
123 |
153 |
5.6e-4 |
PFAM |
|
Pfam:LRR_7
|
124 |
143 |
1.4e-1 |
PFAM |
|
Pfam:LRR_1
|
125 |
148 |
1.2e-3 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000122280
|
| SMART Domains |
Protein: ENSMUSP00000113009
Gene: ENSMUSG00000022604
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:LRR_6
|
79 |
103 |
2.7e-2 |
PFAM |
|
Pfam:LRR_4
|
80 |
122 |
4.4e-8 |
PFAM |
|
Pfam:LRR_8
|
94 |
136 |
4.5e-8 |
PFAM |
|
Pfam:LRR_1
|
103 |
123 |
5.2e-2 |
PFAM |
|
Pfam:LRR_6
|
123 |
147 |
8.1e-4 |
PFAM |
|
Pfam:LRR_7
|
124 |
142 |
1.5e-1 |
PFAM |
|
Pfam:LRR_1
|
125 |
152 |
1.1e-3 |
PFAM |
|
| Meta Mutation Damage Score |
0.6467 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.5%
- 10x: 97.6%
- 20x: 92.8%
|
| Validation Efficiency |
98% (58/59) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 50 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 9130230L23Rik |
A |
G |
5: 66,145,661 (GRCm39) |
V150A |
unknown |
Het |
| Abraxas1 |
T |
C |
5: 100,965,824 (GRCm39) |
|
probably null |
Het |
| Actl7a |
G |
T |
4: 56,743,827 (GRCm39) |
R118L |
probably damaging |
Het |
| Atg2b |
T |
C |
12: 105,605,618 (GRCm39) |
D1449G |
possibly damaging |
Het |
| Atg7 |
G |
A |
6: 114,683,254 (GRCm39) |
W439* |
probably null |
Het |
| Atp6v0a2 |
T |
A |
5: 124,789,343 (GRCm39) |
I370N |
probably damaging |
Het |
| B4galt1 |
T |
C |
4: 40,807,760 (GRCm39) |
D347G |
probably damaging |
Het |
| Baz2b |
C |
T |
2: 59,790,233 (GRCm39) |
C660Y |
probably damaging |
Het |
| Ccdc88c |
T |
C |
12: 100,896,801 (GRCm39) |
Y1390C |
probably damaging |
Het |
| Cdcp1 |
G |
A |
9: 123,002,837 (GRCm39) |
Q745* |
probably null |
Het |
| Clec4d |
A |
G |
6: 123,244,020 (GRCm39) |
H43R |
probably damaging |
Het |
| Cntn3 |
T |
A |
6: 102,219,094 (GRCm39) |
M509L |
probably benign |
Het |
| Cntrob |
A |
C |
11: 69,200,201 (GRCm39) |
S564R |
possibly damaging |
Het |
| Cyp2j8 |
T |
A |
4: 96,395,514 (GRCm39) |
N37I |
possibly damaging |
Het |
| Edc4 |
A |
G |
8: 106,617,219 (GRCm39) |
T1029A |
probably benign |
Het |
| Fhip2b |
A |
T |
14: 70,829,121 (GRCm39) |
V64E |
probably damaging |
Het |
| Fmnl1 |
G |
T |
11: 103,062,270 (GRCm39) |
|
probably null |
Het |
| Fzd6 |
T |
A |
15: 38,870,783 (GRCm39) |
M1K |
probably null |
Het |
| Gle1 |
C |
A |
2: 29,830,293 (GRCm39) |
T283N |
probably benign |
Het |
| Hsd17b14 |
T |
C |
7: 45,215,386 (GRCm39) |
V161A |
probably damaging |
Het |
| Hsf2 |
T |
C |
10: 57,380,819 (GRCm39) |
S218P |
probably benign |
Het |
| Ipo7 |
T |
A |
7: 109,650,020 (GRCm39) |
C736S |
probably damaging |
Het |
| Itpkb |
G |
T |
1: 180,241,540 (GRCm39) |
V737L |
probably damaging |
Het |
| Itpr1 |
T |
C |
6: 108,466,758 (GRCm39) |
|
probably benign |
Het |
| Kcnh8 |
G |
T |
17: 53,110,364 (GRCm39) |
V192L |
possibly damaging |
Het |
| Kctd10 |
G |
A |
5: 114,518,523 (GRCm39) |
|
probably benign |
Het |
| Kdm3a |
C |
A |
6: 71,609,234 (GRCm39) |
|
probably benign |
Het |
| Kif5a |
T |
A |
10: 127,066,447 (GRCm39) |
M990L |
probably benign |
Het |
| Klf12 |
A |
G |
14: 100,260,124 (GRCm39) |
S202P |
probably damaging |
Het |
| Krt81 |
T |
G |
15: 101,358,083 (GRCm39) |
Q390P |
probably damaging |
Het |
| Lrig3 |
T |
C |
10: 125,844,347 (GRCm39) |
S604P |
probably damaging |
Het |
| Ms4a1 |
A |
T |
19: 11,235,612 (GRCm39) |
V48D |
probably damaging |
Het |
| Mta1 |
C |
T |
12: 113,100,239 (GRCm39) |
P688L |
probably damaging |
Het |
| Oas1h |
T |
C |
5: 121,009,040 (GRCm39) |
V250A |
probably damaging |
Het |
| Or10c1 |
A |
T |
17: 37,521,912 (GRCm39) |
Y277* |
probably null |
Het |
| Or52z13 |
G |
T |
7: 103,247,128 (GRCm39) |
G202* |
probably null |
Het |
| P2rx3 |
T |
C |
2: 84,831,071 (GRCm39) |
E265G |
possibly damaging |
Het |
| Pdzd8 |
A |
G |
19: 59,333,718 (GRCm39) |
I101T |
possibly damaging |
Het |
| Psme4 |
A |
T |
11: 30,791,589 (GRCm39) |
N1148I |
probably benign |
Het |
| Rnf213 |
T |
C |
11: 119,312,195 (GRCm39) |
L874P |
probably damaging |
Het |
| Sart3 |
T |
C |
5: 113,889,300 (GRCm39) |
Y508C |
probably damaging |
Het |
| Sez6l2 |
T |
C |
7: 126,569,305 (GRCm39) |
|
probably benign |
Het |
| Slc9b1 |
C |
T |
3: 135,098,655 (GRCm39) |
|
probably benign |
Het |
| Stmn3 |
T |
C |
2: 180,950,573 (GRCm39) |
K78E |
possibly damaging |
Het |
| Thsd4 |
T |
A |
9: 60,301,389 (GRCm39) |
N302I |
possibly damaging |
Het |
| Trdv5 |
A |
T |
14: 54,386,242 (GRCm39) |
H74Q |
probably benign |
Het |
| Tubb4b |
C |
T |
2: 25,113,993 (GRCm39) |
R77H |
probably benign |
Het |
| Ugt1a6a |
C |
T |
1: 88,142,845 (GRCm39) |
P113L |
probably damaging |
Het |
| Unc5a |
T |
A |
13: 55,147,503 (GRCm39) |
C438S |
possibly damaging |
Het |
| Zan |
C |
A |
5: 137,440,396 (GRCm39) |
C1946F |
unknown |
Het |
|
| Other mutations in Cep97 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00978:Cep97
|
APN |
16 |
55,745,323 (GRCm39) |
splice site |
probably benign |
|
|
IGL01142:Cep97
|
APN |
16 |
55,742,561 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01383:Cep97
|
APN |
16 |
55,731,970 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01529:Cep97
|
APN |
16 |
55,750,981 (GRCm39) |
splice site |
probably benign |
|
|
IGL01693:Cep97
|
APN |
16 |
55,750,957 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01759:Cep97
|
APN |
16 |
55,750,936 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02085:Cep97
|
APN |
16 |
55,735,868 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02135:Cep97
|
APN |
16 |
55,743,330 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02582:Cep97
|
APN |
16 |
55,742,539 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02631:Cep97
|
APN |
16 |
55,742,541 (GRCm39) |
nonsense |
probably null |
|
|
IGL02899:Cep97
|
APN |
16 |
55,738,903 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL03086:Cep97
|
APN |
16 |
55,735,659 (GRCm39) |
missense |
probably benign |
|
|
R0067:Cep97
|
UTSW |
16 |
55,735,924 (GRCm39) |
missense |
possibly damaging |
0.96 |
|
R0067:Cep97
|
UTSW |
16 |
55,735,924 (GRCm39) |
missense |
possibly damaging |
0.96 |
|
R0309:Cep97
|
UTSW |
16 |
55,745,421 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R0504:Cep97
|
UTSW |
16 |
55,726,142 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0507:Cep97
|
UTSW |
16 |
55,726,245 (GRCm39) |
splice site |
probably benign |
|
|
R0508:Cep97
|
UTSW |
16 |
55,750,969 (GRCm39) |
missense |
probably benign |
0.02 |
|
R0658:Cep97
|
UTSW |
16 |
55,735,265 (GRCm39) |
missense |
probably benign |
0.09 |
|
R1588:Cep97
|
UTSW |
16 |
55,748,184 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1619:Cep97
|
UTSW |
16 |
55,748,159 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1710:Cep97
|
UTSW |
16 |
55,735,385 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1872:Cep97
|
UTSW |
16 |
55,748,229 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1878:Cep97
|
UTSW |
16 |
55,725,589 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1896:Cep97
|
UTSW |
16 |
55,748,107 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5401:Cep97
|
UTSW |
16 |
55,745,315 (GRCm39) |
missense |
probably benign |
0.03 |
|
R5520:Cep97
|
UTSW |
16 |
55,735,659 (GRCm39) |
missense |
probably benign |
|
|
R5627:Cep97
|
UTSW |
16 |
55,745,330 (GRCm39) |
critical splice donor site |
probably null |
|
|
R5632:Cep97
|
UTSW |
16 |
55,735,946 (GRCm39) |
missense |
probably benign |
0.02 |
|
R5914:Cep97
|
UTSW |
16 |
55,725,820 (GRCm39) |
missense |
probably benign |
0.02 |
|
R6185:Cep97
|
UTSW |
16 |
55,735,455 (GRCm39) |
missense |
probably benign |
|
|
R6381:Cep97
|
UTSW |
16 |
55,742,534 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7041:Cep97
|
UTSW |
16 |
55,726,117 (GRCm39) |
missense |
probably benign |
|
|
R7056:Cep97
|
UTSW |
16 |
55,725,935 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7371:Cep97
|
UTSW |
16 |
55,725,683 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7862:Cep97
|
UTSW |
16 |
55,726,084 (GRCm39) |
missense |
probably benign |
0.26 |
|
R7951:Cep97
|
UTSW |
16 |
55,725,820 (GRCm39) |
missense |
probably benign |
0.02 |
|
R8042:Cep97
|
UTSW |
16 |
55,731,965 (GRCm39) |
missense |
probably benign |
|
|
R8337:Cep97
|
UTSW |
16 |
55,735,394 (GRCm39) |
nonsense |
probably null |
|
|
R8782:Cep97
|
UTSW |
16 |
55,726,084 (GRCm39) |
missense |
probably benign |
0.26 |
|
R8876:Cep97
|
UTSW |
16 |
55,742,467 (GRCm39) |
missense |
possibly damaging |
0.55 |
|
R9028:Cep97
|
UTSW |
16 |
55,739,915 (GRCm39) |
nonsense |
probably null |
|
|
R9514:Cep97
|
UTSW |
16 |
55,726,093 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9544:Cep97
|
UTSW |
16 |
55,735,303 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
Z1176:Cep97
|
UTSW |
16 |
55,748,098 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- GCTACAGGGAAGTCACCAAC -3'
(R):5'- GAGCGCTTGCACTATCTCTC -3'
Sequencing Primer
(F):5'- GGGAAGTCACCAACAAAGCTCTC -3'
(R):5'- GAGTACACTGTAGCTGTCTTCAGAC -3'
|
| Posted On |
2017-02-15 |
Incidental Mutation