Incidental Mutation 'IGL01383:Cep97'
ID |
78930 |
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 # |
IGL01383
|
Quality Score |
|
Status
|
|
Chromosome |
16 |
Chromosomal Location |
55720251-55755218 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 55731970 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamic Acid to Glycine
at position 534
(E534G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000112663
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000023270]
[ENSMUST00000117468]
[ENSMUST00000118500]
|
AlphaFold |
Q9CZ62 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000023270
AA Change: E606G
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
SMART Domains |
Protein: ENSMUSP00000023270 Gene: ENSMUSG00000022604 AA Change: E606G
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 damaging
Transcript: ENSMUST00000117468
AA Change: E534G
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
SMART Domains |
Protein: ENSMUSP00000112687 Gene: ENSMUSG00000022604 AA Change: E534G
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 damaging
Transcript: ENSMUST00000118500
AA Change: E534G
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
SMART Domains |
Protein: ENSMUSP00000112663 Gene: ENSMUSG00000022604 AA Change: E534G
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 |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 41 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4930555G01Rik |
C |
A |
14: 5,051,570 (GRCm38) |
|
probably null |
Het |
Abca9 |
A |
C |
11: 110,004,119 (GRCm39) |
|
probably benign |
Het |
Aox1 |
T |
A |
1: 58,333,464 (GRCm39) |
M227K |
probably benign |
Het |
Asb5 |
T |
A |
8: 55,003,544 (GRCm39) |
L22H |
probably damaging |
Het |
Atrx |
T |
C |
X: 104,845,681 (GRCm39) |
D2309G |
probably damaging |
Het |
Cand1 |
T |
A |
10: 119,044,072 (GRCm39) |
T1074S |
probably damaging |
Het |
Cftr |
C |
A |
6: 18,226,040 (GRCm39) |
N329K |
probably benign |
Het |
Clec7a |
T |
C |
6: 129,449,603 (GRCm39) |
T16A |
probably damaging |
Het |
Col1a1 |
G |
A |
11: 94,836,351 (GRCm39) |
R674H |
probably damaging |
Het |
Csf2rb2 |
T |
C |
15: 78,181,243 (GRCm39) |
S50G |
possibly damaging |
Het |
Eepd1 |
A |
G |
9: 25,393,778 (GRCm39) |
D14G |
probably damaging |
Het |
Fsd1 |
C |
T |
17: 56,303,733 (GRCm39) |
S491F |
probably damaging |
Het |
Grin1 |
C |
A |
2: 25,186,979 (GRCm39) |
R694L |
possibly damaging |
Het |
Gtf3c1 |
A |
G |
7: 125,298,672 (GRCm39) |
I151T |
probably damaging |
Het |
Havcr2 |
T |
C |
11: 46,360,375 (GRCm39) |
S152P |
probably damaging |
Het |
Hvcn1 |
T |
C |
5: 122,375,766 (GRCm39) |
V15A |
probably damaging |
Het |
Iqca1l |
A |
T |
5: 24,753,292 (GRCm39) |
N453K |
probably benign |
Het |
Map3k10 |
C |
T |
7: 27,357,424 (GRCm39) |
V785M |
probably benign |
Het |
Mis18bp1 |
T |
C |
12: 65,195,763 (GRCm39) |
N667S |
probably benign |
Het |
Mup3 |
A |
C |
4: 62,004,196 (GRCm39) |
Y106D |
probably damaging |
Het |
Mypn |
G |
T |
10: 62,971,576 (GRCm39) |
N821K |
probably damaging |
Het |
Odad1 |
T |
C |
7: 45,589,124 (GRCm39) |
S179P |
probably damaging |
Het |
Or2y1c |
T |
A |
11: 49,361,880 (GRCm39) |
W301R |
probably benign |
Het |
Or52b4 |
A |
G |
7: 102,184,140 (GRCm39) |
Y62C |
probably benign |
Het |
Or5ac25 |
A |
T |
16: 59,182,316 (GRCm39) |
N88K |
probably benign |
Het |
Or5i1 |
A |
G |
2: 87,613,217 (GRCm39) |
D111G |
possibly damaging |
Het |
Pcdhb10 |
A |
T |
18: 37,546,328 (GRCm39) |
H468L |
probably benign |
Het |
Pramel27 |
T |
G |
4: 143,573,102 (GRCm39) |
|
probably benign |
Het |
Prp2 |
C |
A |
6: 132,576,841 (GRCm39) |
P43T |
unknown |
Het |
Psg26 |
A |
G |
7: 18,214,179 (GRCm39) |
V161A |
possibly damaging |
Het |
Rab17 |
T |
G |
1: 90,887,815 (GRCm39) |
D115A |
probably damaging |
Het |
Rrp1b |
T |
C |
17: 32,277,552 (GRCm39) |
F611L |
probably damaging |
Het |
Skor1 |
T |
A |
9: 63,053,838 (GRCm39) |
T44S |
probably benign |
Het |
Spaca5 |
T |
C |
X: 20,934,725 (GRCm39) |
|
probably benign |
Het |
Tatdn3 |
G |
A |
1: 190,787,578 (GRCm39) |
|
probably benign |
Het |
Tbk1 |
T |
C |
10: 121,412,184 (GRCm39) |
D118G |
probably damaging |
Het |
Tnfsf13b |
T |
C |
8: 10,081,528 (GRCm39) |
F230S |
probably damaging |
Het |
Tnrc6c |
T |
C |
11: 117,605,083 (GRCm39) |
S73P |
probably benign |
Het |
Vmn2r109 |
A |
G |
17: 20,761,383 (GRCm39) |
V658A |
possibly damaging |
Het |
Vmn2r116 |
C |
T |
17: 23,620,575 (GRCm39) |
L770F |
probably damaging |
Het |
Wwp2 |
T |
A |
8: 108,259,923 (GRCm39) |
|
probably null |
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 |
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 |
2013-11-05 |