Incidental Mutation 'R0067:Cep97'
| ID |
16322 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cep97
|
| Ensembl Gene |
ENSMUSG00000022604 |
| Gene Name |
centrosomal protein 97 |
| Synonyms |
Lrriq2, 4932439K18Rik, E130116N02Rik, 2810403B08Rik |
| MMRRC Submission |
038358-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R0067 (G1)
|
| Quality Score |
|
|
Status
|
Validated
|
| Chromosome |
16 |
| Chromosomal Location |
55720251-55755218 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 55735924 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Lysine
at position 291
(N291K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000112663
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000023270]
[ENSMUST00000117468]
[ENSMUST00000118500]
|
| AlphaFold |
Q9CZ62 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000023270
AA Change: N363K
PolyPhen 2
Score 0.956 (Sensitivity: 0.79; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000023270
Gene: ENSMUSG00000022604
AA Change: N363K
| 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 |
possibly damaging
Transcript: ENSMUST00000117468
AA Change: N291K
PolyPhen 2
Score 0.956 (Sensitivity: 0.79; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000112687
Gene: ENSMUSG00000022604
AA Change: N291K
| 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 |
possibly damaging
Transcript: ENSMUST00000118500
AA Change: N291K
PolyPhen 2
Score 0.956 (Sensitivity: 0.79; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000112663
Gene: ENSMUSG00000022604
AA Change: N291K
| 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 |
|
| Meta Mutation Damage Score |
0.1238 |
| Coding Region Coverage |
- 1x: 87.3%
- 3x: 82.3%
- 10x: 64.1%
- 20x: 35.8%
|
| Validation Efficiency |
96% (73/76) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 40 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Actn4 |
C |
T |
7: 28,610,995 (GRCm39) |
V248M |
possibly damaging |
Het |
| AW209491 |
A |
T |
13: 14,812,328 (GRCm39) |
I394F |
probably benign |
Het |
| Cacna1d |
A |
T |
14: 29,796,967 (GRCm39) |
|
probably benign |
Het |
| Cacna1i |
A |
T |
15: 80,265,373 (GRCm39) |
I1542F |
probably damaging |
Het |
| Clasp2 |
A |
T |
9: 113,689,209 (GRCm39) |
|
probably benign |
Het |
| Dennd1c |
T |
C |
17: 57,382,465 (GRCm39) |
Q67R |
probably damaging |
Het |
| Eva1c |
A |
T |
16: 90,663,305 (GRCm39) |
D13V |
possibly damaging |
Het |
| Fam151b |
T |
C |
13: 92,610,504 (GRCm39) |
K95R |
probably benign |
Het |
| Gm13941 |
T |
C |
2: 110,889,761 (GRCm39) |
|
noncoding transcript |
Het |
| Gps2 |
C |
T |
11: 69,805,607 (GRCm39) |
Q42* |
probably null |
Het |
| Hivep1 |
T |
A |
13: 42,312,132 (GRCm39) |
D1457E |
probably benign |
Het |
| L3mbtl1 |
A |
G |
2: 162,790,748 (GRCm39) |
K225E |
probably damaging |
Het |
| Limch1 |
A |
G |
5: 67,131,965 (GRCm39) |
S143G |
probably damaging |
Het |
| Macf1 |
T |
C |
4: 123,369,041 (GRCm39) |
K342E |
possibly damaging |
Het |
| Mc5r |
T |
G |
18: 68,472,637 (GRCm39) |
M332R |
probably damaging |
Het |
| Mcf2l |
A |
G |
8: 13,063,060 (GRCm39) |
T882A |
probably benign |
Het |
| Mtrex |
C |
T |
13: 113,023,396 (GRCm39) |
V727I |
probably benign |
Het |
| Myf6 |
A |
T |
10: 107,329,340 (GRCm39) |
|
probably null |
Het |
| Plekha5 |
C |
T |
6: 140,470,629 (GRCm39) |
T90I |
probably damaging |
Het |
| Ptbp2 |
T |
C |
3: 119,514,290 (GRCm39) |
T478A |
probably benign |
Het |
| Rasgrp1 |
C |
A |
2: 117,125,301 (GRCm39) |
R246S |
probably damaging |
Het |
| Rflnb |
A |
T |
11: 75,912,987 (GRCm39) |
S134T |
possibly damaging |
Het |
| Rnf214 |
A |
G |
9: 45,778,796 (GRCm39) |
|
probably null |
Het |
| Satb1 |
T |
C |
17: 52,111,364 (GRCm39) |
T165A |
probably damaging |
Het |
| Scamp1 |
T |
C |
13: 94,340,658 (GRCm39) |
Y237C |
probably damaging |
Het |
| Skint10 |
A |
T |
4: 112,568,753 (GRCm39) |
F321L |
probably benign |
Het |
| Slc8a1 |
A |
G |
17: 81,745,188 (GRCm39) |
V672A |
probably benign |
Het |
| Spats2 |
C |
A |
15: 99,110,168 (GRCm39) |
P522T |
possibly damaging |
Het |
| Stkld1 |
A |
T |
2: 26,839,352 (GRCm39) |
E339D |
probably benign |
Het |
| Tbc1d9 |
A |
G |
8: 83,960,872 (GRCm39) |
T241A |
probably damaging |
Het |
| Ticrr |
A |
T |
7: 79,327,158 (GRCm39) |
D622V |
probably damaging |
Het |
| Trmt1l |
T |
C |
1: 151,324,131 (GRCm39) |
V326A |
probably benign |
Het |
| Ube3c |
A |
G |
5: 29,803,936 (GRCm39) |
T180A |
possibly damaging |
Het |
| Unc13a |
A |
C |
8: 72,087,302 (GRCm39) |
F1482V |
probably damaging |
Het |
| Unc79 |
A |
G |
12: 103,025,777 (GRCm39) |
E388G |
probably damaging |
Het |
| Ush2a |
A |
T |
1: 188,697,043 (GRCm39) |
D5167V |
probably damaging |
Het |
| Vmn2r93 |
A |
T |
17: 18,546,672 (GRCm39) |
H848L |
probably benign |
Het |
| Zcchc9 |
T |
C |
13: 91,945,368 (GRCm39) |
I72V |
probably benign |
Het |
| Zfc3h1 |
G |
T |
10: 115,259,379 (GRCm39) |
L1650F |
possibly damaging |
Het |
| Zzz3 |
A |
G |
3: 152,134,040 (GRCm39) |
D366G |
possibly damaging |
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 |
|
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 |
|
R5903:Cep97
|
UTSW |
16 |
55,739,889 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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 |
|
| Posted On |
2013-01-20 |
Incidental Mutation