Incidental Mutation 'R4488:Cep41'
| ID |
330590 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cep41
|
| Ensembl Gene |
ENSMUSG00000029790 |
| Gene Name |
centrosomal protein 41 |
| Synonyms |
2810431D15Rik, Cep41, Tsga14, 1700017E11Rik |
| MMRRC Submission |
041744-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R4488 (G1)
|
| Quality Score |
202 |
|
Status
|
Validated
|
| Chromosome |
6 |
| Chromosomal Location |
30653456-30693748 bp(-) (GRCm39) |
| Type of Mutation |
utr 3 prime |
| DNA Base Change (assembly) |
A to T
at 30655688 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000138696
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000031810]
[ENSMUST00000115131]
[ENSMUST00000140211]
|
| AlphaFold |
Q99NF3 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000031810
|
| SMART Domains |
Protein: ENSMUSP00000031810
Gene: ENSMUSG00000029790
| 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 |
noncoding transcript
Transcript: ENSMUST00000146951
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000153107
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.5%
|
| Validation Efficiency |
95% (38/40) |
| 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: 33 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Alkal1 |
A |
T |
1: 6,429,631 (GRCm39) |
Q26L |
probably benign |
Het |
| Bltp1 |
A |
T |
3: 37,058,082 (GRCm39) |
Q3224L |
probably null |
Het |
| Brox |
A |
G |
1: 183,062,514 (GRCm39) |
L280S |
probably benign |
Het |
| Cryz |
C |
A |
3: 154,324,094 (GRCm39) |
|
probably benign |
Het |
| Cyp26c1 |
T |
C |
19: 37,681,658 (GRCm39) |
V487A |
probably benign |
Het |
| Dlx6 |
T |
C |
6: 6,867,207 (GRCm39) |
M270T |
probably damaging |
Het |
| Glb1 |
T |
C |
9: 114,272,182 (GRCm39) |
I273T |
probably damaging |
Het |
| Glp1r |
A |
C |
17: 31,137,905 (GRCm39) |
H112P |
probably benign |
Het |
| Grm6 |
T |
C |
11: 50,750,816 (GRCm39) |
S660P |
probably damaging |
Het |
| Hao2 |
T |
A |
3: 98,789,341 (GRCm39) |
I116F |
probably damaging |
Het |
| Hcrtr1 |
A |
G |
4: 130,029,556 (GRCm39) |
V175A |
probably benign |
Het |
| Homer3 |
G |
A |
8: 70,742,793 (GRCm39) |
|
probably null |
Het |
| Kifbp |
A |
G |
10: 62,398,806 (GRCm39) |
|
probably benign |
Het |
| Mki67 |
G |
A |
7: 135,299,400 (GRCm39) |
T1878I |
probably benign |
Het |
| Ncoa6 |
A |
G |
2: 155,249,396 (GRCm39) |
F1303L |
possibly damaging |
Het |
| Ngf |
G |
A |
3: 102,428,015 (GRCm39) |
D255N |
probably damaging |
Het |
| Nutf2 |
T |
A |
8: 106,603,059 (GRCm39) |
|
probably null |
Het |
| Or52e7 |
T |
C |
7: 104,684,510 (GRCm39) |
F35S |
probably benign |
Het |
| Rbm45 |
T |
C |
2: 76,206,740 (GRCm39) |
S251P |
probably damaging |
Het |
| Rnaset2b |
A |
G |
17: 7,265,469 (GRCm39) |
Y155C |
probably damaging |
Het |
| Rnf122 |
A |
G |
8: 31,618,283 (GRCm39) |
T92A |
probably damaging |
Het |
| Rnf220 |
A |
G |
4: 117,347,011 (GRCm39) |
S134P |
probably damaging |
Het |
| Shprh |
A |
T |
10: 11,036,215 (GRCm39) |
I351F |
probably benign |
Het |
| Smchd1 |
T |
C |
17: 71,714,230 (GRCm39) |
T878A |
probably benign |
Het |
| Sulf1 |
G |
T |
1: 12,856,739 (GRCm39) |
|
probably benign |
Het |
| Svil |
T |
C |
18: 5,049,067 (GRCm39) |
Y202H |
probably damaging |
Het |
| Tek |
A |
G |
4: 94,737,993 (GRCm39) |
D681G |
possibly damaging |
Het |
| Tra2a |
A |
G |
6: 49,229,428 (GRCm39) |
|
probably benign |
Het |
| Vcp |
A |
T |
4: 42,993,826 (GRCm39) |
I102N |
probably damaging |
Het |
| Vmn2r25 |
A |
T |
6: 123,799,819 (GRCm39) |
I841N |
probably damaging |
Het |
| Zfp949 |
T |
C |
9: 88,452,142 (GRCm39) |
S571P |
probably damaging |
Het |
| Zkscan16 |
A |
G |
4: 58,957,431 (GRCm39) |
E571G |
possibly damaging |
Het |
| Zup1 |
G |
A |
10: 33,824,960 (GRCm39) |
T174I |
probably damaging |
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 |
|
R4678:Cep41
|
UTSW |
6 |
30,671,318 (GRCm39) |
splice site |
probably null |
|
|
R4758:Cep41
|
UTSW |
6 |
30,671,368 (GRCm39) |
splice site |
probably benign |
|
|
R6491:Cep41
|
UTSW |
6 |
30,656,483 (GRCm39) |
missense |
probably benign |
0.10 |
|
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'- GTGGTCATCTGTCAGACTCC -3'
(R):5'- AAGTGGTCTTGGCTGACTTTCC -3'
Sequencing Primer
(F):5'- GTCAGACTCCTTCCTGAGTGAAG -3'
(R):5'- GGCTGACTTTCCTTGGAGACC -3'
|
| Posted On |
2015-07-21 |
Incidental Mutation