Incidental Mutation 'R7041:Cep97'
| ID |
547078 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cep97
|
| Ensembl Gene |
ENSMUSG00000022604 |
| Gene Name |
centrosomal protein 97 |
| Synonyms |
Lrriq2, 4932439K18Rik, E130116N02Rik, 2810403B08Rik |
| MMRRC Submission |
045140-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R7041 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
16 |
| Chromosomal Location |
55720251-55755218 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 55726117 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Leucine
at position 590
(H590L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000112663
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000023270]
[ENSMUST00000117468]
[ENSMUST00000118500]
|
| AlphaFold |
Q9CZ62 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000023270
AA Change: H662L
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000023270
Gene: ENSMUSG00000022604
AA Change: H662L
| 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
AA Change: H590L
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000112687
Gene: ENSMUSG00000022604
AA Change: H590L
| 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
AA Change: H590L
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000112663
Gene: ENSMUSG00000022604
AA Change: H590L
| 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 |
|
| Meta Mutation Damage Score |
0.0846 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.3%
|
| Validation Efficiency |
96% (53/55) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 54 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acan |
G |
T |
7: 78,748,096 (GRCm39) |
E956* |
probably null |
Het |
| Adam25 |
A |
T |
8: 41,207,121 (GRCm39) |
H129L |
probably benign |
Het |
| Adgrl4 |
A |
T |
3: 151,144,959 (GRCm39) |
H36L |
probably benign |
Het |
| Ago1 |
T |
A |
4: 126,357,499 (GRCm39) |
I59F |
possibly damaging |
Het |
| Anapc1 |
A |
T |
2: 128,470,576 (GRCm39) |
V1518E |
possibly damaging |
Het |
| Atxn1 |
A |
G |
13: 45,720,311 (GRCm39) |
I528T |
probably damaging |
Het |
| B4galnt4 |
A |
G |
7: 140,650,593 (GRCm39) |
H820R |
probably damaging |
Het |
| Cacna1h |
T |
C |
17: 25,612,977 (GRCm39) |
E282G |
probably damaging |
Het |
| Camk1 |
T |
A |
6: 113,316,475 (GRCm39) |
M95L |
probably benign |
Het |
| Capn7 |
C |
T |
14: 31,058,642 (GRCm39) |
|
probably benign |
Het |
| Cav1 |
A |
G |
6: 17,339,143 (GRCm39) |
E45G |
possibly damaging |
Het |
| Ccdc183 |
T |
G |
2: 25,503,682 (GRCm39) |
E185A |
probably benign |
Het |
| Ccl2 |
T |
A |
11: 81,926,489 (GRCm39) |
M1K |
probably null |
Het |
| Dsg1c |
A |
T |
18: 20,399,201 (GRCm39) |
I102F |
probably damaging |
Het |
| Fcho2 |
A |
G |
13: 98,921,334 (GRCm39) |
Y184H |
possibly damaging |
Het |
| Gart |
C |
T |
16: 91,440,031 (GRCm39) |
|
probably benign |
Het |
| Gask1a |
A |
T |
9: 121,794,467 (GRCm39) |
Q207L |
probably damaging |
Het |
| Golga3 |
G |
A |
5: 110,356,450 (GRCm39) |
|
probably null |
Het |
| Hint3 |
G |
T |
10: 30,486,380 (GRCm39) |
A133E |
probably damaging |
Het |
| Hspe1 |
T |
C |
1: 55,128,376 (GRCm39) |
|
probably null |
Het |
| Insr |
A |
T |
8: 3,308,418 (GRCm39) |
V206E |
probably benign |
Het |
| Insrr |
T |
C |
3: 87,722,551 (GRCm39) |
S1258P |
probably damaging |
Het |
| Itga11 |
C |
T |
9: 62,659,538 (GRCm39) |
T430M |
probably damaging |
Het |
| Jmjd1c |
G |
A |
10: 67,056,388 (GRCm39) |
V890I |
possibly damaging |
Het |
| Kdm4b |
T |
A |
17: 56,703,592 (GRCm39) |
S717R |
probably damaging |
Het |
| Large1 |
A |
T |
8: 73,843,092 (GRCm39) |
C144S |
probably damaging |
Het |
| Lrat |
G |
T |
3: 82,810,755 (GRCm39) |
Q89K |
probably benign |
Het |
| Lrrc66 |
A |
T |
5: 73,765,899 (GRCm39) |
F381L |
possibly damaging |
Het |
| Myo15a |
A |
G |
11: 60,396,832 (GRCm39) |
T2634A |
probably damaging |
Het |
| Nup205 |
T |
G |
6: 35,201,470 (GRCm39) |
I1182M |
possibly damaging |
Het |
| Or2a51 |
T |
A |
6: 43,178,837 (GRCm39) |
D86E |
probably benign |
Het |
| Or5m10 |
A |
T |
2: 85,717,965 (GRCm39) |
I274F |
probably benign |
Het |
| Or6c66 |
T |
A |
10: 129,461,603 (GRCm39) |
E109V |
probably damaging |
Het |
| Plekha6 |
T |
A |
1: 133,200,198 (GRCm39) |
V259D |
possibly damaging |
Het |
| Prdm9 |
C |
A |
17: 15,765,257 (GRCm39) |
A508S |
possibly damaging |
Het |
| Prickle2 |
A |
G |
6: 92,353,286 (GRCm39) |
F783L |
probably benign |
Het |
| Ptprc |
T |
C |
1: 138,054,047 (GRCm39) |
S31G |
probably benign |
Het |
| Rbak |
A |
T |
5: 143,159,226 (GRCm39) |
I609N |
probably damaging |
Het |
| Rimklb |
A |
T |
6: 122,436,176 (GRCm39) |
L134* |
probably null |
Het |
| Ripor2 |
A |
G |
13: 24,877,749 (GRCm39) |
I250V |
probably benign |
Het |
| Sorbs1 |
G |
C |
19: 40,365,244 (GRCm39) |
R180G |
probably benign |
Het |
| Spaca6 |
C |
T |
17: 18,056,358 (GRCm39) |
L118F |
probably benign |
Het |
| Tmem167 |
G |
A |
13: 90,246,533 (GRCm39) |
C19Y |
probably benign |
Het |
| Togaram1 |
C |
T |
12: 65,067,160 (GRCm39) |
T1684I |
possibly damaging |
Het |
| Trappc8 |
T |
C |
18: 21,007,729 (GRCm39) |
T129A |
probably benign |
Het |
| Ubash3a |
A |
G |
17: 31,447,184 (GRCm39) |
S347G |
probably benign |
Het |
| Unc80 |
T |
C |
1: 66,542,752 (GRCm39) |
S289P |
probably benign |
Het |
| Vmn2r11 |
A |
G |
5: 109,202,816 (GRCm39) |
I87T |
probably damaging |
Het |
| Vmn2r54 |
A |
T |
7: 12,363,751 (GRCm39) |
F381I |
probably damaging |
Het |
| Wdsub1 |
A |
G |
2: 59,683,224 (GRCm39) |
L450P |
probably damaging |
Het |
| Xylt2 |
A |
G |
11: 94,558,408 (GRCm39) |
|
probably null |
Het |
| Zfp429 |
A |
T |
13: 67,538,830 (GRCm39) |
C205S |
probably damaging |
Het |
| Zfp60 |
T |
C |
7: 27,448,451 (GRCm39) |
I373T |
probably benign |
Het |
| Zfp738 |
A |
G |
13: 67,818,420 (GRCm39) |
S524P |
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 |
|
|
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 |
|
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'- TCCCCAACACGGAGTTTTC -3'
(R):5'- AACTGCAGGACTTCTGTGGG -3'
Sequencing Primer
(F):5'- AACACGGAGTTTTCGCTGC -3'
(R):5'- ACTTCTGTGGGGGAAAAGCTC -3'
|
| Posted On |
2019-05-13 |
Incidental Mutation