Incidental Mutation 'R5401:Cep97'
ID |
430018 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Cep97
|
Ensembl Gene |
ENSMUSG00000022604 |
Gene Name |
centrosomal protein 97 |
Synonyms |
Lrriq2, 4932439K18Rik, E130116N02Rik, 2810403B08Rik |
MMRRC Submission |
042972-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R5401 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
16 |
Chromosomal Location |
55720251-55755218 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 55745315 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Alanine
at position 155
(V155A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000113009
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000023270]
[ENSMUST00000117468]
[ENSMUST00000118500]
[ENSMUST00000121129]
[ENSMUST00000121703]
[ENSMUST00000122280]
|
AlphaFold |
Q9CZ62 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000023270
|
SMART Domains |
Protein: ENSMUSP00000023270 Gene: ENSMUSG00000022604
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
|
SMART Domains |
Protein: ENSMUSP00000112687 Gene: ENSMUSG00000022604
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
|
SMART Domains |
Protein: ENSMUSP00000112663 Gene: ENSMUSG00000022604
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: ENSMUST00000121703
|
SMART Domains |
Protein: ENSMUSP00000113470 Gene: ENSMUSG00000022604
Domain | Start | End | E-Value | Type |
Pfam:LRR_6
|
79 |
103 |
2.6e-2 |
PFAM |
Pfam:LRR_4
|
80 |
122 |
4.1e-8 |
PFAM |
Pfam:LRR_8
|
94 |
136 |
4.4e-8 |
PFAM |
Pfam:LRR_1
|
103 |
123 |
4.9e-2 |
PFAM |
Pfam:LRR_6
|
123 |
147 |
7e-4 |
PFAM |
Pfam:LRR_7
|
124 |
143 |
1.3e-1 |
PFAM |
Pfam:LRR_1
|
125 |
145 |
1.2e-3 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000122280
AA Change: V155A
PolyPhen 2
Score 0.031 (Sensitivity: 0.95; Specificity: 0.82)
|
SMART Domains |
Protein: ENSMUSP00000113009 Gene: ENSMUSG00000022604 AA Change: V155A
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 |
0.0898 |
Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.7%
- 10x: 97.3%
- 20x: 95.4%
|
Validation Efficiency |
97% (66/68) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 53 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700001J11Rik |
A |
G |
9: 39,962,338 (GRCm39) |
|
noncoding transcript |
Het |
1700025H01Rik |
G |
T |
16: 30,018,801 (GRCm39) |
|
noncoding transcript |
Het |
9330159F19Rik |
T |
C |
10: 29,101,136 (GRCm39) |
V503A |
probably benign |
Het |
Acacb |
A |
G |
5: 114,347,914 (GRCm39) |
N995S |
possibly damaging |
Het |
Anapc4 |
A |
G |
5: 53,020,991 (GRCm39) |
K630R |
probably benign |
Het |
Ankrd13a |
A |
C |
5: 114,930,234 (GRCm39) |
Q206H |
probably damaging |
Het |
Ano10 |
A |
T |
9: 122,090,356 (GRCm39) |
L319Q |
probably damaging |
Het |
Camkk2 |
T |
A |
5: 122,884,398 (GRCm39) |
D341V |
probably damaging |
Het |
Ccdc88a |
A |
G |
11: 29,413,279 (GRCm39) |
I606V |
probably benign |
Het |
Cdv3 |
G |
T |
9: 103,242,316 (GRCm39) |
|
probably benign |
Het |
Cmya5 |
T |
C |
13: 93,228,476 (GRCm39) |
E2204G |
probably damaging |
Het |
Cracr2b |
A |
G |
7: 141,046,136 (GRCm39) |
*395W |
probably null |
Het |
Defa27 |
A |
G |
8: 21,805,710 (GRCm39) |
E50G |
possibly damaging |
Het |
Dnah7a |
A |
G |
1: 53,670,812 (GRCm39) |
I480T |
probably benign |
Het |
Ep400 |
C |
A |
5: 110,831,037 (GRCm39) |
D2210Y |
unknown |
Het |
Fam170a |
T |
A |
18: 50,413,618 (GRCm39) |
S28T |
probably benign |
Het |
Fancc |
C |
A |
13: 63,550,767 (GRCm39) |
K18N |
probably damaging |
Het |
Flt4 |
AC |
ACC |
11: 49,541,861 (GRCm39) |
|
probably null |
Het |
Fndc8 |
T |
G |
11: 82,788,676 (GRCm39) |
S169A |
possibly damaging |
Het |
Get3 |
A |
T |
8: 85,745,173 (GRCm39) |
I298N |
possibly damaging |
Het |
Herc1 |
T |
C |
9: 66,409,338 (GRCm39) |
Y4688H |
probably damaging |
Het |
Ighv11-2 |
A |
T |
12: 114,011,959 (GRCm39) |
D85E |
possibly damaging |
Het |
Kat14 |
T |
C |
2: 144,231,180 (GRCm39) |
F196L |
possibly damaging |
Het |
Kctd19 |
C |
T |
8: 106,109,617 (GRCm39) |
V942I |
probably benign |
Het |
Llgl1 |
A |
G |
11: 60,597,297 (GRCm39) |
S249G |
probably benign |
Het |
Map1a |
T |
C |
2: 121,130,153 (GRCm39) |
V323A |
probably damaging |
Het |
Or4m1 |
C |
A |
14: 50,557,566 (GRCm39) |
C242F |
probably damaging |
Het |
Phf21a |
C |
A |
2: 92,182,097 (GRCm39) |
T342K |
possibly damaging |
Het |
Piezo2 |
T |
A |
18: 63,217,811 (GRCm39) |
D1122V |
possibly damaging |
Het |
Pklr |
A |
G |
3: 89,049,173 (GRCm39) |
Y173C |
probably damaging |
Het |
Plcz1 |
G |
T |
6: 139,938,778 (GRCm39) |
|
probably null |
Het |
Polr3a |
T |
C |
14: 24,505,009 (GRCm39) |
I1084V |
possibly damaging |
Het |
Prom1 |
A |
T |
5: 44,158,147 (GRCm39) |
Y845N |
probably damaging |
Het |
Qng1 |
C |
A |
13: 58,530,405 (GRCm39) |
A202S |
probably benign |
Het |
Ret |
A |
T |
6: 118,158,936 (GRCm39) |
S159T |
probably benign |
Het |
Rfx1 |
C |
A |
8: 84,793,005 (GRCm39) |
|
probably null |
Het |
Scp2 |
A |
T |
4: 108,001,976 (GRCm39) |
|
probably null |
Het |
Sh3bp5 |
C |
A |
14: 31,099,452 (GRCm39) |
R265L |
probably benign |
Het |
Slc22a30 |
G |
A |
19: 8,321,757 (GRCm39) |
Q436* |
probably null |
Het |
Smad5 |
T |
C |
13: 56,875,282 (GRCm39) |
F157L |
probably benign |
Het |
Smarcc2 |
C |
A |
10: 128,301,373 (GRCm39) |
D210E |
probably damaging |
Het |
Sptlc3 |
T |
C |
2: 139,478,643 (GRCm39) |
L534P |
possibly damaging |
Het |
Srrm1 |
A |
G |
4: 135,051,380 (GRCm39) |
|
probably benign |
Het |
Srsf11 |
C |
T |
3: 157,728,981 (GRCm39) |
|
probably benign |
Het |
Sugct |
T |
A |
13: 17,032,455 (GRCm39) |
Q432H |
probably damaging |
Het |
Tex9 |
A |
T |
9: 72,394,060 (GRCm39) |
|
probably null |
Het |
Tsc1 |
C |
A |
2: 28,576,920 (GRCm39) |
S1073* |
probably null |
Het |
Vmn1r72 |
T |
C |
7: 11,403,843 (GRCm39) |
S202G |
probably damaging |
Het |
Vmn2r55 |
A |
G |
7: 12,385,871 (GRCm39) |
V703A |
probably benign |
Het |
Vmn2r67 |
A |
T |
7: 84,785,765 (GRCm39) |
Y747N |
probably damaging |
Het |
Zcchc4 |
A |
G |
5: 52,964,419 (GRCm39) |
I292V |
probably benign |
Het |
Zfp998 |
T |
C |
13: 66,579,722 (GRCm39) |
R254G |
probably benign |
Het |
Zswim2 |
C |
T |
2: 83,755,589 (GRCm39) |
G104E |
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 |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- GGGTCTATCTTGTGCTAATAACATTCA -3'
(R):5'- GCCAGTTGACTTGAAGTGCAC -3'
Sequencing Primer
(F):5'- ACATGTATGTTGGTGTACCCATC -3'
(R):5'- TCTGTAACGAGATCTGACGC -3'
|
Posted On |
2016-09-06 |