Incidental Mutation 'R4892:Cep131'
| ID |
377356 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cep131
|
| Ensembl Gene |
ENSMUSG00000039781 |
| Gene Name |
centrosomal protein 131 |
| Synonyms |
Azi1, AZ1 |
| MMRRC Submission |
042497-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.947)
|
| Stock # |
R4892 (G1)
|
| Quality Score |
176 |
|
Status
|
Not validated
|
| Chromosome |
11 |
| Chromosomal Location |
119955256-119977653 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 119958883 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Histidine
at position 717
(R717H)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000136392
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000106227]
[ENSMUST00000106229]
[ENSMUST00000180242]
|
| AlphaFold |
Q62036 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000106227
AA Change: R716H
PolyPhen 2
Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000101834
Gene: ENSMUSG00000039781
AA Change: R716H
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
113 |
124 |
N/A |
INTRINSIC |
|
low complexity region
|
238 |
257 |
N/A |
INTRINSIC |
|
IQ
|
261 |
283 |
7.58e-2 |
SMART |
|
coiled coil region
|
306 |
344 |
N/A |
INTRINSIC |
|
low complexity region
|
395 |
409 |
N/A |
INTRINSIC |
|
low complexity region
|
440 |
459 |
N/A |
INTRINSIC |
|
low complexity region
|
561 |
576 |
N/A |
INTRINSIC |
|
SCOP:d1jila_
|
672 |
756 |
2e-3 |
SMART |
|
low complexity region
|
785 |
803 |
N/A |
INTRINSIC |
|
low complexity region
|
813 |
826 |
N/A |
INTRINSIC |
|
coiled coil region
|
874 |
1053 |
N/A |
INTRINSIC |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000106229
AA Change: R717H
PolyPhen 2
Score 0.954 (Sensitivity: 0.79; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000101836
Gene: ENSMUSG00000039781
AA Change: R717H
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
113 |
124 |
N/A |
INTRINSIC |
|
low complexity region
|
238 |
257 |
N/A |
INTRINSIC |
|
IQ
|
261 |
283 |
7.58e-2 |
SMART |
|
coiled coil region
|
306 |
342 |
N/A |
INTRINSIC |
|
low complexity region
|
396 |
410 |
N/A |
INTRINSIC |
|
low complexity region
|
441 |
460 |
N/A |
INTRINSIC |
|
low complexity region
|
562 |
577 |
N/A |
INTRINSIC |
|
SCOP:d1jila_
|
673 |
757 |
2e-3 |
SMART |
|
low complexity region
|
786 |
804 |
N/A |
INTRINSIC |
|
low complexity region
|
814 |
827 |
N/A |
INTRINSIC |
|
coiled coil region
|
875 |
1054 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000144128
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000145641
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000150463
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000156075
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000175334
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000180242
AA Change: R717H
PolyPhen 2
Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000136392
Gene: ENSMUSG00000039781
AA Change: R717H
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
113 |
124 |
N/A |
INTRINSIC |
|
low complexity region
|
238 |
257 |
N/A |
INTRINSIC |
|
IQ
|
261 |
283 |
7.58e-2 |
SMART |
|
coiled coil region
|
306 |
345 |
N/A |
INTRINSIC |
|
low complexity region
|
396 |
410 |
N/A |
INTRINSIC |
|
low complexity region
|
441 |
460 |
N/A |
INTRINSIC |
|
low complexity region
|
562 |
577 |
N/A |
INTRINSIC |
|
SCOP:d1jila_
|
673 |
757 |
2e-3 |
SMART |
|
low complexity region
|
786 |
804 |
N/A |
INTRINSIC |
|
low complexity region
|
814 |
827 |
N/A |
INTRINSIC |
|
coiled coil region
|
875 |
1054 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 96.6%
- 20x: 93.4%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: The protein encoding this gene is a centriolar satellite protein that localizes around the basal body via transport along microtubules. Knockdown in mouse fibroblasts results in a reduction in ciliogenesis. Null mutant mice display no discernible ciliary phenotypes and embryonic patterning and adult homeostasis are largely unaffected. Male mice are infertile, however, due to defects in microtubule trafficking in the sperm manchette and flagella. In addition, the protein binds to a complex of proteins associated with Bardet-Biedl syndrome called the BBSome, and depletion of this protein results in an accumulation of the BBSome in cilia. [provided by RefSeq, Oct 2014]
PHENOTYPE: Mice homozygous for a null allele exhibit partial preweaning lethality with no apparent defects in cilia formation or function. However, homozygotes display complete male infertility associated with spermiogenesis arrest, severe flagellar defects, and teratozoospermia. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 33 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc12 |
T |
C |
8: 87,236,431 (GRCm39) |
T1128A |
probably benign |
Het |
| Apol11a |
A |
T |
15: 77,401,190 (GRCm39) |
K226* |
probably null |
Het |
| Atp4a |
A |
G |
7: 30,411,899 (GRCm39) |
M45V |
probably benign |
Het |
| Babam1 |
T |
A |
8: 71,855,696 (GRCm39) |
M263K |
probably benign |
Het |
| Capn11 |
GACA |
GA |
17: 45,944,023 (GRCm39) |
|
probably null |
Het |
| Ccdc190 |
C |
A |
1: 169,757,678 (GRCm39) |
L46I |
possibly damaging |
Het |
| Cpt1c |
A |
G |
7: 44,609,012 (GRCm39) |
F770L |
probably benign |
Het |
| Dhx30 |
A |
T |
9: 109,914,924 (GRCm39) |
|
probably null |
Het |
| Dido1 |
G |
A |
2: 180,316,822 (GRCm39) |
Q662* |
probably null |
Het |
| Dip2a |
T |
C |
10: 76,116,593 (GRCm39) |
E910G |
probably benign |
Het |
| Dnah8 |
G |
A |
17: 30,967,542 (GRCm39) |
D2585N |
probably benign |
Het |
| Fmo3 |
T |
A |
1: 162,796,300 (GRCm39) |
I91F |
probably benign |
Het |
| Gdap1 |
A |
C |
1: 17,230,218 (GRCm39) |
D217A |
possibly damaging |
Het |
| Grm1 |
T |
C |
10: 10,595,331 (GRCm39) |
S766G |
possibly damaging |
Het |
| Kat8 |
T |
A |
7: 127,514,710 (GRCm39) |
I123N |
possibly damaging |
Het |
| Kcnt2 |
C |
A |
1: 140,440,763 (GRCm39) |
S23* |
probably null |
Het |
| Krt73 |
G |
A |
15: 101,704,244 (GRCm39) |
T432I |
probably damaging |
Het |
| Lgals9 |
T |
A |
11: 78,856,909 (GRCm39) |
I223L |
probably benign |
Het |
| Mpo |
T |
A |
11: 87,693,507 (GRCm39) |
N48K |
probably benign |
Het |
| Myo9a |
T |
G |
9: 59,731,525 (GRCm39) |
H632Q |
probably damaging |
Het |
| Or2y1c |
C |
A |
11: 49,361,043 (GRCm39) |
Q22K |
probably benign |
Het |
| Or9s27 |
A |
G |
1: 92,516,643 (GRCm39) |
N197S |
probably benign |
Het |
| Prelid2 |
A |
G |
18: 42,084,209 (GRCm39) |
F11S |
possibly damaging |
Het |
| Setd1a |
G |
T |
7: 127,377,696 (GRCm39) |
V57L |
probably damaging |
Het |
| Sgip1 |
A |
G |
4: 102,823,431 (GRCm39) |
D704G |
probably damaging |
Het |
| Spryd3 |
T |
C |
15: 102,026,537 (GRCm39) |
E378G |
probably benign |
Het |
| Stk17b |
A |
T |
1: 53,810,770 (GRCm39) |
Y112N |
probably damaging |
Het |
| Syndig1 |
A |
T |
2: 149,741,811 (GRCm39) |
K132N |
probably damaging |
Het |
| Tcf20 |
C |
T |
15: 82,738,400 (GRCm39) |
R1017Q |
possibly damaging |
Het |
| Tenm3 |
T |
A |
8: 48,729,896 (GRCm39) |
D1370V |
probably damaging |
Het |
| Tnrc6a |
C |
T |
7: 122,769,134 (GRCm39) |
T308I |
probably damaging |
Het |
| Ttc29 |
T |
C |
8: 79,060,274 (GRCm39) |
V398A |
probably damaging |
Het |
| Ubr4 |
A |
G |
4: 139,155,828 (GRCm39) |
T2218A |
probably benign |
Het |
|
| Other mutations in Cep131 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01432:Cep131
|
APN |
11 |
119,967,835 (GRCm39) |
missense |
possibly damaging |
0.55 |
|
IGL01522:Cep131
|
APN |
11 |
119,957,989 (GRCm39) |
missense |
probably benign |
0.09 |
|
IGL01524:Cep131
|
APN |
11 |
119,956,786 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02477:Cep131
|
APN |
11 |
119,961,406 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0565:Cep131
|
UTSW |
11 |
119,964,588 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R1731:Cep131
|
UTSW |
11 |
119,967,742 (GRCm39) |
splice site |
probably null |
|
|
R1739:Cep131
|
UTSW |
11 |
119,974,732 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1797:Cep131
|
UTSW |
11 |
119,964,562 (GRCm39) |
splice site |
probably null |
|
|
R2444:Cep131
|
UTSW |
11 |
119,961,321 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2899:Cep131
|
UTSW |
11 |
119,962,854 (GRCm39) |
missense |
probably benign |
0.01 |
|
R3854:Cep131
|
UTSW |
11 |
119,958,011 (GRCm39) |
nonsense |
probably null |
|
|
R3856:Cep131
|
UTSW |
11 |
119,958,011 (GRCm39) |
nonsense |
probably null |
|
|
R4446:Cep131
|
UTSW |
11 |
119,955,645 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4624:Cep131
|
UTSW |
11 |
119,961,658 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4838:Cep131
|
UTSW |
11 |
119,966,982 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5170:Cep131
|
UTSW |
11 |
119,961,435 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6128:Cep131
|
UTSW |
11 |
119,956,801 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6179:Cep131
|
UTSW |
11 |
119,956,837 (GRCm39) |
missense |
probably benign |
0.13 |
|
R6362:Cep131
|
UTSW |
11 |
119,955,516 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6630:Cep131
|
UTSW |
11 |
119,964,641 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6786:Cep131
|
UTSW |
11 |
119,956,218 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6846:Cep131
|
UTSW |
11 |
119,956,517 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6847:Cep131
|
UTSW |
11 |
119,956,517 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7210:Cep131
|
UTSW |
11 |
119,955,615 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R7569:Cep131
|
UTSW |
11 |
119,957,539 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8380:Cep131
|
UTSW |
11 |
119,967,854 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8794:Cep131
|
UTSW |
11 |
119,972,074 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9520:Cep131
|
UTSW |
11 |
119,968,157 (GRCm39) |
missense |
probably benign |
0.09 |
|
RF015:Cep131
|
UTSW |
11 |
119,963,794 (GRCm39) |
critical splice acceptor site |
probably benign |
|
|
RF054:Cep131
|
UTSW |
11 |
119,963,794 (GRCm39) |
critical splice acceptor site |
probably benign |
|
|
Z1177:Cep131
|
UTSW |
11 |
119,956,541 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- ACAGGAAGGTCACAGCACTG -3'
(R):5'- CGATCAGGTTTGCCATGCTG -3'
Sequencing Primer
(F):5'- ACACAGGCTGGTACGTTG -3'
(R):5'- CCATGCTGTGGGGCAGTG -3'
|
| Posted On |
2016-03-17 |
Incidental Mutation