Incidental Mutation 'R5632:Cep97'
| ID |
439943 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cep97
|
| Ensembl Gene |
ENSMUSG00000022604 |
| Gene Name |
centrosomal protein 97 |
| Synonyms |
Lrriq2, 4932439K18Rik, E130116N02Rik, 2810403B08Rik |
| MMRRC Submission |
043283-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R5632 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
16 |
| Chromosomal Location |
55720251-55755218 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 55735946 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 284
(D284G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000112663
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000023270]
[ENSMUST00000117468]
[ENSMUST00000118500]
|
| AlphaFold |
Q9CZ62 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000023270
AA Change: D356G
PolyPhen 2
Score 0.018 (Sensitivity: 0.95; Specificity: 0.80)
|
| SMART Domains |
Protein: ENSMUSP00000023270
Gene: ENSMUSG00000022604
AA Change: D356G
| 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: D284G
PolyPhen 2
Score 0.018 (Sensitivity: 0.95; Specificity: 0.80)
|
| SMART Domains |
Protein: ENSMUSP00000112687
Gene: ENSMUSG00000022604
AA Change: D284G
| 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: D284G
PolyPhen 2
Score 0.018 (Sensitivity: 0.95; Specificity: 0.80)
|
| SMART Domains |
Protein: ENSMUSP00000112663
Gene: ENSMUSG00000022604
AA Change: D284G
| 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: 99.3%
- 3x: 98.7%
- 10x: 97.3%
- 20x: 95.4%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 60 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcd4 |
T |
C |
12: 84,664,076 (GRCm39) |
T7A |
probably benign |
Het |
| Adam33 |
T |
G |
2: 130,895,362 (GRCm39) |
D619A |
probably damaging |
Het |
| Ajm1 |
T |
C |
2: 25,469,276 (GRCm39) |
T212A |
probably benign |
Het |
| Aldh3b3 |
C |
T |
19: 4,018,522 (GRCm39) |
|
probably benign |
Het |
| Arhgef15 |
G |
A |
11: 68,844,877 (GRCm39) |
P240L |
probably benign |
Het |
| Arhgef40 |
C |
A |
14: 52,231,795 (GRCm39) |
T727K |
probably damaging |
Het |
| Arrdc1 |
T |
C |
2: 24,817,840 (GRCm39) |
T43A |
probably benign |
Het |
| Bcl2l15 |
A |
G |
3: 103,743,378 (GRCm39) |
N93S |
probably benign |
Het |
| Cd5l |
G |
T |
3: 87,273,414 (GRCm39) |
E128* |
probably null |
Het |
| Ckmt1 |
T |
A |
2: 121,191,073 (GRCm39) |
S162T |
probably damaging |
Het |
| Clock |
G |
A |
5: 76,378,185 (GRCm39) |
P572S |
probably benign |
Het |
| Cpeb4 |
A |
G |
11: 31,839,877 (GRCm39) |
D53G |
probably damaging |
Het |
| Crocc2 |
T |
A |
1: 93,145,575 (GRCm39) |
S1485R |
probably damaging |
Het |
| Dcaf5 |
G |
A |
12: 80,444,526 (GRCm39) |
A189V |
probably damaging |
Het |
| Duox2 |
C |
T |
2: 122,111,936 (GRCm39) |
G1355S |
probably damaging |
Het |
| Fam120b |
C |
T |
17: 15,623,344 (GRCm39) |
P441S |
probably benign |
Het |
| Fbxo41 |
A |
G |
6: 85,461,486 (GRCm39) |
L74P |
probably damaging |
Het |
| H2-DMa |
A |
G |
17: 34,356,975 (GRCm39) |
T158A |
probably benign |
Het |
| Hcar2 |
T |
A |
5: 124,002,532 (GRCm39) |
T324S |
probably benign |
Het |
| Hif3a |
T |
C |
7: 16,784,580 (GRCm39) |
I222V |
possibly damaging |
Het |
| Ighv1-7 |
A |
G |
12: 114,502,501 (GRCm39) |
|
probably benign |
Het |
| Il20 |
T |
C |
1: 130,835,165 (GRCm39) |
E151G |
probably benign |
Het |
| Jarid2 |
A |
G |
13: 45,049,766 (GRCm39) |
E236G |
probably damaging |
Het |
| Knl1 |
T |
C |
2: 118,900,833 (GRCm39) |
S845P |
probably damaging |
Het |
| Lamc2 |
T |
C |
1: 153,007,636 (GRCm39) |
Y846C |
probably damaging |
Het |
| Lrp5 |
A |
G |
19: 3,672,512 (GRCm39) |
V599A |
probably benign |
Het |
| Lrrc8b |
T |
A |
5: 105,628,163 (GRCm39) |
S170T |
possibly damaging |
Het |
| Mex3d |
T |
C |
10: 80,218,428 (GRCm39) |
K263R |
probably damaging |
Het |
| Mtor |
A |
G |
4: 148,553,463 (GRCm39) |
K784E |
possibly damaging |
Het |
| Naip5 |
C |
A |
13: 100,367,170 (GRCm39) |
|
probably null |
Het |
| Ncor1 |
T |
C |
11: 62,229,060 (GRCm39) |
T609A |
possibly damaging |
Het |
| Ndufs1 |
C |
T |
1: 63,189,218 (GRCm39) |
A536T |
probably benign |
Het |
| Neto1 |
A |
G |
18: 86,516,768 (GRCm39) |
I362V |
probably benign |
Het |
| Nfatc3 |
T |
C |
8: 106,805,689 (GRCm39) |
L178P |
probably damaging |
Het |
| Npdc1 |
G |
A |
2: 25,298,957 (GRCm39) |
D284N |
probably damaging |
Het |
| Nsd3 |
C |
T |
8: 26,169,985 (GRCm39) |
T707M |
probably benign |
Het |
| Or51f2 |
A |
C |
7: 102,527,004 (GRCm39) |
S226R |
probably benign |
Het |
| Or5w1b |
A |
T |
2: 87,475,573 (GRCm39) |
V298E |
probably damaging |
Het |
| Or9g19 |
T |
C |
2: 85,600,613 (GRCm39) |
V156A |
probably benign |
Het |
| Pcnx1 |
T |
A |
12: 81,964,504 (GRCm39) |
S224T |
probably damaging |
Het |
| Peak1 |
T |
C |
9: 56,165,058 (GRCm39) |
T957A |
probably damaging |
Het |
| Pex7 |
A |
T |
10: 19,764,483 (GRCm39) |
D153E |
probably damaging |
Het |
| Plscr1 |
A |
G |
9: 92,148,477 (GRCm39) |
E139G |
probably damaging |
Het |
| Psmb8 |
T |
C |
17: 34,420,214 (GRCm39) |
Y269H |
probably benign |
Het |
| Rmc1 |
T |
C |
18: 12,304,640 (GRCm39) |
F72L |
possibly damaging |
Het |
| Secisbp2l |
C |
T |
2: 125,582,657 (GRCm39) |
G933D |
possibly damaging |
Het |
| Sft2d2 |
T |
C |
1: 165,012,657 (GRCm39) |
T80A |
probably damaging |
Het |
| Slc12a5 |
A |
G |
2: 164,829,141 (GRCm39) |
I583M |
possibly damaging |
Het |
| Slc23a4 |
T |
C |
6: 34,933,957 (GRCm39) |
M49V |
probably benign |
Het |
| Smarcb1 |
G |
A |
10: 75,740,252 (GRCm39) |
Q309* |
probably null |
Het |
| Sphkap |
A |
T |
1: 83,256,006 (GRCm39) |
V294E |
probably benign |
Het |
| Stoml1 |
C |
A |
9: 58,160,653 (GRCm39) |
P35Q |
probably damaging |
Het |
| Timm10b |
G |
C |
7: 105,290,329 (GRCm39) |
R42P |
probably damaging |
Het |
| Tnfrsf8 |
A |
T |
4: 145,019,203 (GRCm39) |
S211T |
possibly damaging |
Het |
| Ttn |
T |
C |
2: 76,536,164 (GRCm39) |
T26738A |
probably damaging |
Het |
| Vps13d |
A |
T |
4: 144,801,452 (GRCm39) |
Y474N |
probably damaging |
Het |
| Wdr81 |
A |
T |
11: 75,336,732 (GRCm39) |
F1552L |
probably damaging |
Het |
| Wee1 |
TCCCC |
TCCC |
7: 109,723,776 (GRCm39) |
|
probably null |
Het |
| Wnt7a |
A |
C |
6: 91,371,637 (GRCm39) |
Y108* |
probably null |
Het |
| Zfp512b |
C |
T |
2: 181,227,461 (GRCm39) |
R56K |
probably benign |
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 |
|
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- TCAGCTCAACAGTGGGAGAC -3'
(R):5'- CATTTTAGTCATGTTTGAGGAAACGGG -3'
Sequencing Primer
(F):5'- TCCTGAAGCAACTGGCAT -3'
(R):5'- GGAAACGGGTTTTTATTGTACTTTAC -3'
|
| Posted On |
2016-11-08 |
Incidental Mutation