Incidental Mutation 'R8042:Cep97'
| ID |
618598 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cep97
|
| Ensembl Gene |
ENSMUSG00000022604 |
| Gene Name |
centrosomal protein 97 |
| Synonyms |
Lrriq2, 4932439K18Rik, E130116N02Rik, 2810403B08Rik |
| MMRRC Submission |
067479-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R8042 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
16 |
| Chromosomal Location |
55720251-55755218 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 55731965 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Leucine
at position 608
(V608L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000023270
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000023270]
[ENSMUST00000117468]
[ENSMUST00000118500]
|
| AlphaFold |
Q9CZ62 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000023270
AA Change: V608L
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000023270
Gene: ENSMUSG00000022604
AA Change: V608L
| 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 benign
Transcript: ENSMUST00000117468
AA Change: V536L
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000112687
Gene: ENSMUSG00000022604
AA Change: V536L
| 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: ENSMUST00000118500
AA Change: V536L
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000112663
Gene: ENSMUSG00000022604
AA Change: V536L
| 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 |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.9%
- 20x: 99.6%
|
| Validation Efficiency |
100% (46/46) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 45 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca15 |
A |
G |
7: 120,002,233 (GRCm39) |
Y1582C |
possibly damaging |
Het |
| Acly |
A |
G |
11: 100,405,151 (GRCm39) |
I339T |
probably damaging |
Het |
| Adcy4 |
A |
G |
14: 56,012,696 (GRCm39) |
V541A |
probably benign |
Het |
| Arhgef3 |
T |
A |
14: 27,084,766 (GRCm39) |
V45D |
possibly damaging |
Het |
| Azi2 |
C |
A |
9: 117,891,165 (GRCm39) |
Q397K |
probably benign |
Het |
| Cacna1h |
G |
T |
17: 25,611,445 (GRCm39) |
S451* |
probably null |
Het |
| Cacna2d3 |
A |
T |
14: 28,826,995 (GRCm39) |
|
probably benign |
Het |
| Cep85l |
A |
G |
10: 53,224,759 (GRCm39) |
Y277H |
probably damaging |
Het |
| Crb1 |
T |
A |
1: 139,242,392 (GRCm39) |
Y362F |
probably damaging |
Het |
| Ctc1 |
T |
A |
11: 68,920,669 (GRCm39) |
|
probably benign |
Het |
| Dnah14 |
T |
C |
1: 181,471,196 (GRCm39) |
|
probably null |
Het |
| Dock4 |
T |
C |
12: 40,795,759 (GRCm39) |
F859L |
probably benign |
Het |
| Errfi1 |
T |
C |
4: 150,950,914 (GRCm39) |
F114S |
possibly damaging |
Het |
| Gbp9 |
T |
A |
5: 105,242,108 (GRCm39) |
I150F |
probably damaging |
Het |
| Loxhd1 |
C |
T |
18: 77,518,888 (GRCm39) |
T1898M |
probably damaging |
Het |
| Lrrc9 |
A |
T |
12: 72,507,680 (GRCm39) |
T394S |
probably benign |
Het |
| Ltbp2 |
T |
C |
12: 84,838,673 (GRCm39) |
E1115G |
probably damaging |
Het |
| Mast4 |
T |
C |
13: 102,917,753 (GRCm39) |
S552G |
probably damaging |
Het |
| Mgat4b |
T |
A |
11: 50,123,203 (GRCm39) |
Y263* |
probably null |
Het |
| Moxd2 |
T |
C |
6: 40,862,301 (GRCm39) |
I173V |
probably benign |
Het |
| Mrc2 |
T |
C |
11: 105,239,181 (GRCm39) |
V1312A |
probably damaging |
Het |
| Myh1 |
A |
T |
11: 67,097,429 (GRCm39) |
I465F |
probably damaging |
Het |
| Nadk |
G |
T |
4: 155,661,524 (GRCm39) |
D17Y |
probably benign |
Het |
| Nt5dc1 |
T |
C |
10: 34,273,210 (GRCm39) |
D196G |
probably benign |
Het |
| Obscn |
T |
C |
11: 58,931,143 (GRCm39) |
D5028G |
possibly damaging |
Het |
| Pabpc1 |
A |
G |
15: 36,598,553 (GRCm39) |
F447S |
probably benign |
Het |
| Pcsk6 |
T |
G |
7: 65,577,683 (GRCm39) |
N201K |
possibly damaging |
Het |
| Pml |
C |
A |
9: 58,141,968 (GRCm39) |
R288L |
probably benign |
Het |
| Ptpro |
A |
G |
6: 137,393,881 (GRCm39) |
T850A |
possibly damaging |
Het |
| Rnf213 |
A |
G |
11: 119,332,480 (GRCm39) |
D2564G |
|
Het |
| Rsf1 |
G |
GACGGCGGCA |
7: 97,229,116 (GRCm39) |
|
probably benign |
Het |
| Sec24a |
T |
C |
11: 51,595,144 (GRCm39) |
T939A |
probably benign |
Het |
| Serpine1 |
A |
T |
5: 137,095,855 (GRCm39) |
L242H |
probably benign |
Het |
| Slc27a4 |
T |
A |
2: 29,701,202 (GRCm39) |
V331E |
probably damaging |
Het |
| Slc6a6 |
A |
C |
6: 91,718,226 (GRCm39) |
I347L |
probably benign |
Het |
| Spns2 |
A |
T |
11: 72,345,003 (GRCm39) |
L495H |
possibly damaging |
Het |
| Stam2 |
A |
G |
2: 52,596,409 (GRCm39) |
|
probably null |
Het |
| Syt12 |
C |
A |
19: 4,503,852 (GRCm39) |
V260F |
probably damaging |
Het |
| Tdrd7 |
T |
A |
4: 45,987,516 (GRCm39) |
S50T |
possibly damaging |
Het |
| Tert |
T |
A |
13: 73,775,264 (GRCm39) |
V39E |
probably damaging |
Het |
| Tmem147 |
T |
A |
7: 30,427,978 (GRCm39) |
S75C |
probably damaging |
Het |
| Tnpo2 |
C |
T |
8: 85,778,188 (GRCm39) |
P564S |
probably damaging |
Het |
| Utp25 |
A |
G |
1: 192,796,980 (GRCm39) |
V1A |
|
Het |
| Vsig1 |
C |
T |
X: 139,833,875 (GRCm39) |
H232Y |
probably benign |
Het |
| Zfp738 |
A |
G |
13: 67,819,010 (GRCm39) |
L327S |
probably 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 |
|
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 |
|
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'- ATTTTCAAAGGACCACGGGCAG -3'
(R):5'- CAGACACATCTTATTTGGCTTCTG -3'
Sequencing Primer
(F):5'- GCAGGTCCGAGGGAACG -3'
(R):5'- ACACATCTTATTTGGCTTCTGTTTTG -3'
|
| Posted On |
2020-01-23 |
Incidental Mutation