Incidental Mutation 'R6381:Cep97'
| ID |
515341 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cep97
|
| Ensembl Gene |
ENSMUSG00000022604 |
| Gene Name |
centrosomal protein 97 |
| Synonyms |
Lrriq2, 4932439K18Rik, E130116N02Rik, 2810403B08Rik |
| MMRRC Submission |
044530-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R6381 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
16 |
| Chromosomal Location |
55720251-55755218 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 55742534 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Alanine to Threonine
at position 138
(A138T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000112663
(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: A210T
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000023270
Gene: ENSMUSG00000022604
AA Change: A210T
| 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: A138T
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000112687
Gene: ENSMUSG00000022604
AA Change: A138T
| 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: A138T
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000112663
Gene: ENSMUSG00000022604
AA Change: A138T
| 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
|
| 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 |
|
| Meta Mutation Damage Score |
0.1635 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.2%
- 20x: 97.2%
|
| Validation Efficiency |
97% (56/58) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 56 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930503L19Rik |
T |
A |
18: 70,600,788 (GRCm39) |
M365L |
probably damaging |
Het |
| Aars2 |
A |
G |
17: 45,829,471 (GRCm39) |
E786G |
probably benign |
Het |
| Adamts12 |
G |
T |
15: 11,257,080 (GRCm39) |
V478F |
possibly damaging |
Het |
| Akr1c21 |
T |
A |
13: 4,624,183 (GRCm39) |
D12E |
probably damaging |
Het |
| Aplf |
A |
T |
6: 87,635,959 (GRCm39) |
M118K |
probably damaging |
Het |
| Apobec1 |
A |
G |
6: 122,555,890 (GRCm39) |
L189P |
probably damaging |
Het |
| BC061237 |
A |
G |
14: 44,741,713 (GRCm39) |
Q152R |
possibly damaging |
Het |
| Bche |
A |
G |
3: 73,609,132 (GRCm39) |
I98T |
probably benign |
Het |
| Cc2d2a |
G |
T |
5: 43,873,118 (GRCm39) |
R983L |
possibly damaging |
Het |
| Ccnd3 |
T |
C |
17: 47,816,149 (GRCm39) |
|
probably benign |
Het |
| Cd74 |
G |
T |
18: 60,944,435 (GRCm39) |
C215F |
probably damaging |
Het |
| Ces1e |
T |
A |
8: 93,944,206 (GRCm39) |
N204I |
probably damaging |
Het |
| Dicer1 |
T |
C |
12: 104,662,721 (GRCm39) |
D1620G |
probably benign |
Het |
| Dnah17 |
A |
G |
11: 118,020,011 (GRCm39) |
V12A |
probably benign |
Het |
| Dstyk |
T |
A |
1: 132,384,503 (GRCm39) |
|
probably null |
Het |
| Elapor1 |
T |
C |
3: 108,389,130 (GRCm39) |
K222E |
possibly damaging |
Het |
| Eml2 |
G |
A |
7: 18,935,088 (GRCm39) |
V432I |
probably damaging |
Het |
| Entr1 |
A |
G |
2: 26,275,093 (GRCm39) |
|
probably null |
Het |
| Gm10570 |
G |
T |
4: 130,202,021 (GRCm39) |
|
probably benign |
Het |
| Gm7145 |
C |
T |
1: 117,913,669 (GRCm39) |
Q184* |
probably null |
Het |
| Gpat2 |
G |
C |
2: 127,273,838 (GRCm39) |
G294R |
possibly damaging |
Het |
| Gtse1 |
G |
A |
15: 85,746,349 (GRCm39) |
R55H |
probably benign |
Het |
| Hdac4 |
G |
T |
1: 91,912,247 (GRCm39) |
Q381K |
possibly damaging |
Het |
| Ifit3b |
T |
C |
19: 34,589,871 (GRCm39) |
I349T |
probably benign |
Het |
| Inpp5a |
A |
T |
7: 138,980,589 (GRCm39) |
D9V |
probably benign |
Het |
| Irs1 |
T |
C |
1: 82,265,405 (GRCm39) |
N937S |
possibly damaging |
Het |
| Kcna4 |
T |
C |
2: 107,125,317 (GRCm39) |
M17T |
probably benign |
Het |
| Lipa |
T |
A |
19: 34,502,146 (GRCm39) |
M33L |
probably benign |
Het |
| Marchf6 |
G |
T |
15: 31,467,838 (GRCm39) |
Q790K |
probably benign |
Het |
| Mccc1 |
G |
A |
3: 36,030,876 (GRCm39) |
P397S |
probably benign |
Het |
| Mrgprb2 |
T |
C |
7: 48,202,138 (GRCm39) |
I196V |
probably benign |
Het |
| Myh15 |
T |
A |
16: 48,921,844 (GRCm39) |
S463R |
probably damaging |
Het |
| Nab2 |
T |
C |
10: 127,500,220 (GRCm39) |
K291E |
probably damaging |
Het |
| Neto2 |
T |
C |
8: 86,369,138 (GRCm39) |
T294A |
probably damaging |
Het |
| Nkx1-1 |
T |
C |
5: 33,591,320 (GRCm39) |
M1V |
probably null |
Het |
| Or2h2 |
C |
T |
17: 37,396,977 (GRCm39) |
V27I |
probably benign |
Het |
| Pla2g4c |
C |
T |
7: 13,077,933 (GRCm39) |
T357I |
probably benign |
Het |
| Psmd2 |
A |
G |
16: 20,474,023 (GRCm39) |
E242G |
probably benign |
Het |
| Rnase12 |
A |
C |
14: 51,294,551 (GRCm39) |
Y43D |
probably damaging |
Het |
| Rpl18 |
T |
A |
7: 45,369,016 (GRCm39) |
F58I |
probably damaging |
Het |
| Ryr1 |
T |
G |
7: 28,774,682 (GRCm39) |
M2313L |
possibly damaging |
Het |
| Scn4a |
G |
T |
11: 106,211,137 (GRCm39) |
Q1627K |
probably damaging |
Het |
| Scnn1g |
A |
G |
7: 121,366,722 (GRCm39) |
S640G |
probably benign |
Het |
| Sdr9c7 |
T |
A |
10: 127,739,542 (GRCm39) |
M219K |
probably benign |
Het |
| Soat1 |
A |
T |
1: 156,263,373 (GRCm39) |
M392K |
probably damaging |
Het |
| Spata18 |
G |
T |
5: 73,832,559 (GRCm39) |
K337N |
probably damaging |
Het |
| Supt16 |
A |
G |
14: 52,417,003 (GRCm39) |
V325A |
probably benign |
Het |
| Syt2 |
A |
G |
1: 134,674,588 (GRCm39) |
E342G |
probably damaging |
Het |
| Tars2 |
A |
T |
3: 95,661,799 (GRCm39) |
L37* |
probably null |
Het |
| Tep1 |
T |
C |
14: 51,082,888 (GRCm39) |
D1040G |
probably damaging |
Het |
| Tmc8 |
A |
T |
11: 117,682,426 (GRCm39) |
S613C |
probably null |
Het |
| Top3a |
C |
T |
11: 60,634,849 (GRCm39) |
C660Y |
probably damaging |
Het |
| Tpsg1 |
C |
T |
17: 25,591,543 (GRCm39) |
R48C |
probably damaging |
Het |
| Vmn2r57 |
T |
C |
7: 41,078,242 (GRCm39) |
N72S |
probably benign |
Het |
| Whrn |
G |
A |
4: 63,390,921 (GRCm39) |
T269I |
probably benign |
Het |
| Zfp759 |
T |
A |
13: 67,286,969 (GRCm39) |
Y173* |
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 |
|
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 |
|
|
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'- TCTGGGCTACAATGACACCAG -3'
(R):5'- GAACTTGTGATATCCTCGAATGC -3'
Sequencing Primer
(F):5'- TCTCTAAGTTGAAGGCCAGC -3'
(R):5'- ATGCTGCCAACGTTACGTAG -3'
|
| Posted On |
2018-05-04 |
Incidental Mutation