Incidental Mutation 'IGL01693:Cep97'
| ID |
104184 |
| 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 # |
IGL01693
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
16 |
| Chromosomal Location |
55720251-55755218 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 55750957 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tryptophan to Arginine
at position 20
(W20R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000023270
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000023270]
[ENSMUST00000117468]
[ENSMUST00000118500]
[ENSMUST00000121129]
[ENSMUST00000121703]
[ENSMUST00000122280]
|
| AlphaFold |
Q9CZ62 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000023270
AA Change: W20R
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000023270
Gene: ENSMUSG00000022604
AA Change: W20R
| 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 |
possibly damaging
Transcript: ENSMUST00000121129
AA Change: W20R
PolyPhen 2
Score 0.870 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000112502
Gene: ENSMUSG00000022604
AA Change: W20R
| 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 |
possibly damaging
Transcript: ENSMUST00000121703
AA Change: W20R
PolyPhen 2
Score 0.870 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000113470
Gene: ENSMUSG00000022604
AA Change: W20R
| 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 |
possibly damaging
Transcript: ENSMUST00000122280
AA Change: W20R
PolyPhen 2
Score 0.870 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000113009
Gene: ENSMUSG00000022604
AA Change: W20R
| 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: 28 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Akr1b8 |
T |
A |
6: 34,340,271 (GRCm39) |
M145K |
possibly damaging |
Het |
| Arhgap39 |
T |
C |
15: 76,610,167 (GRCm39) |
D943G |
probably null |
Het |
| Arhgap42 |
A |
T |
9: 9,006,507 (GRCm39) |
W630R |
probably damaging |
Het |
| Bbs5 |
T |
A |
2: 69,493,424 (GRCm39) |
S225T |
probably benign |
Het |
| Cacna1f |
A |
T |
X: 7,491,606 (GRCm39) |
N1159Y |
probably damaging |
Het |
| Catsperg1 |
A |
G |
7: 28,884,523 (GRCm39) |
|
probably benign |
Het |
| Cemip2 |
A |
C |
19: 21,779,251 (GRCm39) |
I354L |
probably benign |
Het |
| Cep15 |
T |
C |
14: 12,287,380 (GRCm38) |
L55P |
probably damaging |
Het |
| Cmtm8 |
G |
A |
9: 114,618,773 (GRCm39) |
T160M |
probably damaging |
Het |
| Csf2ra |
A |
G |
19: 61,214,434 (GRCm39) |
S244P |
possibly damaging |
Het |
| Dnah7b |
C |
T |
1: 46,397,307 (GRCm39) |
P3913S |
probably benign |
Het |
| Dnai4 |
T |
C |
4: 102,944,527 (GRCm39) |
|
probably null |
Het |
| Ezh1 |
C |
T |
11: 101,106,084 (GRCm39) |
M100I |
probably benign |
Het |
| Gadl1 |
C |
A |
9: 115,778,653 (GRCm39) |
P189Q |
probably damaging |
Het |
| Gcnt2 |
G |
A |
13: 41,041,549 (GRCm39) |
S236N |
probably benign |
Het |
| H1f7 |
A |
C |
15: 98,154,262 (GRCm39) |
Y296D |
unknown |
Het |
| Hmcn1 |
T |
A |
1: 150,459,031 (GRCm39) |
D5191V |
probably damaging |
Het |
| Mycbp2 |
A |
T |
14: 103,365,415 (GRCm39) |
D4194E |
probably damaging |
Het |
| Ncf2 |
C |
A |
1: 152,700,074 (GRCm39) |
T203K |
probably benign |
Het |
| Or5a1 |
C |
A |
19: 12,097,921 (GRCm39) |
V40L |
probably benign |
Het |
| Pate8 |
G |
A |
9: 36,492,662 (GRCm39) |
T81I |
probably benign |
Het |
| Phf8 |
T |
A |
X: 150,333,871 (GRCm39) |
V113E |
probably damaging |
Het |
| Pkm |
G |
T |
9: 59,577,805 (GRCm39) |
K207N |
probably damaging |
Het |
| Slco1a6 |
G |
T |
6: 142,078,935 (GRCm39) |
S120* |
probably null |
Het |
| Sox10 |
C |
T |
15: 79,040,473 (GRCm39) |
V195M |
possibly damaging |
Het |
| Swt1 |
A |
G |
1: 151,297,855 (GRCm39) |
I24T |
probably benign |
Het |
| Thada |
T |
C |
17: 84,754,072 (GRCm39) |
T300A |
probably benign |
Het |
| Vmn2r17 |
T |
C |
5: 109,600,384 (GRCm39) |
Y561H |
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 |
|
|
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 |
2014-01-21 |
Incidental Mutation