Incidental Mutation 'IGL00978:Cep97'
ID |
29201 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Cep97
|
Ensembl Gene |
ENSMUSG00000022604 |
Gene Name |
centrosomal protein 97 |
Synonyms |
Lrriq2, 4932439K18Rik, E130116N02Rik, 2810403B08Rik |
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
IGL00978
|
Quality Score |
|
Status
|
|
Chromosome |
16 |
Chromosomal Location |
55720251-55755218 bp(-) (GRCm39) |
Type of Mutation |
splice site |
DNA Base Change (assembly) |
C to T
at 55745323 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000113470
(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 |
silent
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 |
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 35 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
0610009L18Rik |
T |
C |
11: 120,241,773 (GRCm39) |
|
probably benign |
Het |
Alpk2 |
A |
T |
18: 65,424,605 (GRCm39) |
|
probably benign |
Het |
Angptl8 |
T |
C |
9: 21,748,349 (GRCm39) |
|
probably benign |
Het |
AU040320 |
T |
A |
4: 126,722,632 (GRCm39) |
D383E |
probably benign |
Het |
Clcn4 |
A |
T |
7: 7,290,672 (GRCm39) |
L649H |
probably damaging |
Het |
Col5a2 |
T |
C |
1: 45,415,899 (GRCm39) |
N1416S |
probably benign |
Het |
Erbb2 |
C |
T |
11: 98,326,456 (GRCm39) |
P1027S |
probably damaging |
Het |
Eya1 |
A |
G |
1: 14,340,925 (GRCm39) |
|
probably benign |
Het |
Gfm2 |
T |
C |
13: 97,299,485 (GRCm39) |
I402T |
probably benign |
Het |
Gmeb2 |
A |
T |
2: 180,900,836 (GRCm39) |
V187E |
probably benign |
Het |
Hectd1 |
T |
C |
12: 51,838,173 (GRCm39) |
H662R |
possibly damaging |
Het |
Ifne |
T |
C |
4: 88,798,268 (GRCm39) |
Q50R |
probably benign |
Het |
Kidins220 |
A |
G |
12: 25,107,473 (GRCm39) |
D1642G |
probably damaging |
Het |
Klhl32 |
T |
A |
4: 24,682,245 (GRCm39) |
D146V |
probably damaging |
Het |
Krt36 |
T |
C |
11: 99,993,774 (GRCm39) |
I355V |
probably damaging |
Het |
Lrrcc1 |
T |
A |
3: 14,601,188 (GRCm39) |
S73R |
possibly damaging |
Het |
Ltbp3 |
A |
T |
19: 5,804,047 (GRCm39) |
H853L |
probably benign |
Het |
Map3k5 |
G |
A |
10: 20,017,313 (GRCm39) |
R1369Q |
probably damaging |
Het |
Mcm8 |
A |
G |
2: 132,663,326 (GRCm39) |
N148S |
probably benign |
Het |
Mylk3 |
A |
T |
8: 86,082,155 (GRCm39) |
L211* |
probably null |
Het |
Nras |
T |
C |
3: 102,966,232 (GRCm39) |
|
probably benign |
Het |
Or2n1c |
A |
T |
17: 38,519,873 (GRCm39) |
I246F |
probably damaging |
Het |
Or52e18 |
A |
T |
7: 104,609,923 (GRCm39) |
N5K |
probably damaging |
Het |
Os9 |
A |
T |
10: 126,956,378 (GRCm39) |
Y66N |
probably damaging |
Het |
Pitpnm1 |
A |
G |
19: 4,151,228 (GRCm39) |
D15G |
possibly damaging |
Het |
Reg3a |
A |
T |
6: 78,359,284 (GRCm39) |
R95* |
probably null |
Het |
Rnf17 |
C |
T |
14: 56,749,728 (GRCm39) |
P1425S |
probably damaging |
Het |
Smad2 |
T |
C |
18: 76,432,846 (GRCm39) |
|
probably benign |
Het |
Ttll5 |
C |
T |
12: 85,980,256 (GRCm39) |
Q76* |
probably null |
Het |
Uri1 |
A |
T |
7: 37,696,156 (GRCm39) |
|
probably benign |
Het |
Vmn2r102 |
G |
T |
17: 19,899,185 (GRCm39) |
|
probably null |
Het |
Vmn2r70 |
T |
G |
7: 85,213,007 (GRCm39) |
M467L |
probably benign |
Het |
Zfp318 |
T |
A |
17: 46,724,652 (GRCm39) |
D2218E |
possibly damaging |
Het |
Zfp692 |
T |
C |
11: 58,204,855 (GRCm39) |
I405T |
possibly damaging |
Het |
Zfp692 |
A |
G |
11: 58,200,824 (GRCm39) |
H235R |
possibly damaging |
Het |
|
Other mutations in Cep97 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
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 |
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 |
2013-04-17 |