Incidental Mutation 'R6491:Cep41'
| ID |
522867 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cep41
|
| Ensembl Gene |
ENSMUSG00000029790 |
| Gene Name |
centrosomal protein 41 |
| Synonyms |
2810431D15Rik, Cep41, Tsga14, 1700017E11Rik |
| MMRRC Submission |
044623-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R6491 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
6 |
| Chromosomal Location |
30653456-30693748 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 30656483 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Serine
at position 323
(N323S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000031810
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000031810]
[ENSMUST00000115131]
[ENSMUST00000140211]
[ENSMUST00000140252]
|
| AlphaFold |
Q99NF3 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000031810
AA Change: N323S
PolyPhen 2
Score 0.097 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000031810
Gene: ENSMUSG00000029790
AA Change: N323S
| Domain | Start | End | E-Value | Type |
|---|
|
RHOD
|
151 |
263 |
9.88e-8 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000115131
|
| SMART Domains |
Protein: ENSMUSP00000110784
Gene: ENSMUSG00000029790
| Domain | Start | End | E-Value | Type |
|---|
|
RHOD
|
151 |
263 |
1.62e-3 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000132763
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000140211
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000140252
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000146951
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000153107
|
| Meta Mutation Damage Score |
0.0846 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.1%
- 20x: 94.5%
|
| Validation Efficiency |
100% (35/35) |
| MGI Phenotype |
FUNCTION: This gene encodes a centrosomal protein which may be required for tubulin glutamylation in cilia during ciliogenesis. Mutations in a similar gene in human have been associated with Joubert Syndrome 15, an autosomal recessive ciliopathy and neurological disorder. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2015]
PHENOTYPE: Homozygous disruption of this gene causes an abnormal gait, increased thermal nociceptive threshold, and alterations in fertility/fecundity and eye morphology. Some embryos homozygous for a gene trapped allele die at E10-E12 exhibiting turning failure, dilated pericardial sacs, and brain anomalies. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 34 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4833420G17Rik |
T |
C |
13: 119,612,508 (GRCm39) |
L431P |
probably damaging |
Het |
| Acad10 |
A |
C |
5: 121,768,220 (GRCm39) |
W779G |
probably damaging |
Het |
| Acrbp |
A |
G |
6: 125,028,442 (GRCm39) |
|
probably benign |
Het |
| Ank3 |
G |
A |
10: 69,827,459 (GRCm39) |
A565T |
probably benign |
Het |
| Ap2a1 |
A |
T |
7: 44,565,588 (GRCm39) |
I93K |
probably damaging |
Het |
| Arnt |
T |
A |
3: 95,383,454 (GRCm39) |
M240K |
probably damaging |
Het |
| Ceacam12 |
A |
T |
7: 17,803,185 (GRCm39) |
K197M |
probably damaging |
Het |
| Dst |
A |
G |
1: 34,232,093 (GRCm39) |
T2904A |
probably benign |
Het |
| Eml1 |
G |
A |
12: 108,479,330 (GRCm39) |
|
probably null |
Het |
| Fbln2 |
A |
G |
6: 91,236,732 (GRCm39) |
N749S |
possibly damaging |
Het |
| Irf2bpl |
A |
G |
12: 86,930,238 (GRCm39) |
V145A |
probably benign |
Het |
| Itga2b |
T |
C |
11: 102,350,695 (GRCm39) |
|
probably null |
Het |
| Itga8 |
T |
C |
2: 12,209,587 (GRCm39) |
D466G |
probably damaging |
Het |
| Kdm4c |
G |
T |
4: 74,291,873 (GRCm39) |
C830F |
probably damaging |
Het |
| Mrps27 |
T |
C |
13: 99,499,538 (GRCm39) |
S73P |
probably damaging |
Het |
| Mtdh |
T |
G |
15: 34,116,473 (GRCm39) |
N17K |
probably damaging |
Het |
| Muc3a |
A |
G |
5: 137,246,591 (GRCm39) |
S9P |
probably benign |
Het |
| Or8b46 |
A |
G |
9: 38,558,751 (GRCm39) |
L23P |
probably damaging |
Het |
| Oxgr1 |
T |
A |
14: 120,259,419 (GRCm39) |
I263F |
probably benign |
Het |
| Phc1 |
A |
G |
6: 122,311,923 (GRCm39) |
|
|
Het |
| Ppp2r5d |
A |
G |
17: 46,996,509 (GRCm39) |
F388S |
probably damaging |
Het |
| Pxmp4 |
A |
G |
2: 154,434,083 (GRCm39) |
|
probably null |
Het |
| Rnd2 |
C |
T |
11: 101,359,825 (GRCm39) |
L57F |
probably damaging |
Het |
| Ror1 |
A |
G |
4: 100,267,109 (GRCm39) |
N270S |
possibly damaging |
Het |
| Slc7a14 |
T |
C |
3: 31,278,093 (GRCm39) |
Y504C |
probably damaging |
Het |
| Snx9 |
A |
G |
17: 5,970,437 (GRCm39) |
D391G |
probably benign |
Het |
| St18 |
T |
A |
1: 6,898,209 (GRCm39) |
Y670* |
probably null |
Het |
| Tjp1 |
A |
T |
7: 64,986,865 (GRCm39) |
F207I |
possibly damaging |
Het |
| Trappc3 |
A |
G |
4: 126,169,022 (GRCm39) |
I171V |
probably benign |
Het |
| Ugt2b5 |
A |
T |
5: 87,273,328 (GRCm39) |
L446* |
probably null |
Het |
| Vmn2r105 |
A |
T |
17: 20,447,992 (GRCm39) |
Y277* |
probably null |
Het |
| Vmn2r11 |
A |
T |
5: 109,196,800 (GRCm39) |
N557K |
possibly damaging |
Het |
| Yod1 |
G |
A |
1: 130,645,275 (GRCm39) |
G19S |
probably damaging |
Het |
| Zfp938 |
A |
G |
10: 82,063,363 (GRCm39) |
*65Q |
probably null |
Het |
|
| Other mutations in Cep41 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00953:Cep41
|
APN |
6 |
30,660,966 (GRCm39) |
missense |
probably benign |
0.29 |
|
IGL02640:Cep41
|
APN |
6 |
30,658,867 (GRCm39) |
missense |
probably benign |
0.00 |
|
PIT4480001:Cep41
|
UTSW |
6 |
30,658,412 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0627:Cep41
|
UTSW |
6 |
30,656,630 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1416:Cep41
|
UTSW |
6 |
30,657,356 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R1856:Cep41
|
UTSW |
6 |
30,661,005 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R2265:Cep41
|
UTSW |
6 |
30,660,915 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
R3881:Cep41
|
UTSW |
6 |
30,658,397 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4488:Cep41
|
UTSW |
6 |
30,655,688 (GRCm39) |
utr 3 prime |
probably benign |
|
|
R4678:Cep41
|
UTSW |
6 |
30,671,318 (GRCm39) |
splice site |
probably null |
|
|
R4758:Cep41
|
UTSW |
6 |
30,671,368 (GRCm39) |
splice site |
probably benign |
|
|
R7344:Cep41
|
UTSW |
6 |
30,693,655 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7973:Cep41
|
UTSW |
6 |
30,680,130 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8353:Cep41
|
UTSW |
6 |
30,658,891 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8998:Cep41
|
UTSW |
6 |
30,666,165 (GRCm39) |
missense |
probably benign |
0.19 |
|
R8999:Cep41
|
UTSW |
6 |
30,666,165 (GRCm39) |
missense |
probably benign |
0.19 |
|
R9313:Cep41
|
UTSW |
6 |
30,680,345 (GRCm39) |
missense |
probably null |
0.00 |
|
R9407:Cep41
|
UTSW |
6 |
30,655,841 (GRCm39) |
missense |
probably benign |
0.08 |
|
R9744:Cep41
|
UTSW |
6 |
30,656,603 (GRCm39) |
missense |
probably benign |
|
|
| Predicted Primers |
PCR Primer
(F):5'- GTGTCCTCTCTGCCTAAGACAC -3'
(R):5'- CAGAAGGACTGGTCACTGGTTC -3'
Sequencing Primer
(F):5'- ACACAGGCTCCCCATGCTTG -3'
(R):5'- GACTGGTCACTGGTTCCCTGC -3'
|
| Posted On |
2018-06-06 |
Incidental Mutation