Incidental Mutation 'IGL02640:Cep41'
ID |
301693 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Cep41
|
Ensembl Gene |
ENSMUSG00000029790 |
Gene Name |
centrosomal protein 41 |
Synonyms |
2810431D15Rik, Cep41, Tsga14, 1700017E11Rik |
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
IGL02640
|
Quality Score |
|
Status
|
|
Chromosome |
6 |
Chromosomal Location |
30653456-30693748 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 30658867 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamic Acid to Glycine
at position 160
(E160G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000110784
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000031810]
[ENSMUST00000115131]
[ENSMUST00000140211]
[ENSMUST00000140252]
|
AlphaFold |
Q99NF3 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000031810
AA Change: E160G
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
SMART Domains |
Protein: ENSMUSP00000031810 Gene: ENSMUSG00000029790 AA Change: E160G
Domain | Start | End | E-Value | Type |
RHOD
|
151 |
263 |
9.88e-8 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000115131
AA Change: E160G
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
SMART Domains |
Protein: ENSMUSP00000110784 Gene: ENSMUSG00000029790 AA Change: E160G
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
|
Coding Region Coverage |
|
Validation Efficiency |
|
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 |
Alkbh3 |
C |
A |
2: 93,826,706 (GRCm39) |
R165L |
possibly damaging |
Het |
Arap3 |
A |
G |
18: 38,120,855 (GRCm39) |
V730A |
possibly damaging |
Het |
Arcn1 |
A |
C |
9: 44,662,614 (GRCm39) |
I344S |
probably damaging |
Het |
Ascc3 |
A |
C |
10: 50,643,470 (GRCm39) |
D1807A |
possibly damaging |
Het |
Atp2b3 |
A |
G |
X: 72,585,811 (GRCm39) |
S615G |
probably benign |
Het |
Ccdc40 |
A |
G |
11: 119,128,904 (GRCm39) |
N450S |
probably benign |
Het |
Cxxc1 |
T |
C |
18: 74,354,254 (GRCm39) |
L654P |
probably damaging |
Het |
Dusp29 |
T |
A |
14: 21,753,123 (GRCm39) |
T8S |
probably damaging |
Het |
Gnb4 |
C |
T |
3: 32,645,374 (GRCm39) |
A106T |
probably benign |
Het |
Gosr1 |
T |
C |
11: 76,645,603 (GRCm39) |
N59S |
probably benign |
Het |
Itgav |
A |
G |
2: 83,622,283 (GRCm39) |
T622A |
probably benign |
Het |
Lamc2 |
A |
G |
1: 153,027,803 (GRCm39) |
I207T |
probably damaging |
Het |
Lce1c |
C |
A |
3: 92,587,845 (GRCm39) |
|
probably benign |
Het |
Mcm3ap |
G |
T |
10: 76,342,255 (GRCm39) |
D1583Y |
probably damaging |
Het |
Mphosph9 |
A |
T |
5: 124,453,563 (GRCm39) |
F220I |
possibly damaging |
Het |
Or14j2 |
A |
G |
17: 37,885,912 (GRCm39) |
V134A |
possibly damaging |
Het |
Or2ag16 |
A |
T |
7: 106,352,559 (GRCm39) |
F12Y |
probably damaging |
Het |
Plcb1 |
T |
G |
2: 135,062,779 (GRCm39) |
|
probably benign |
Het |
Polr3c |
G |
A |
3: 96,624,002 (GRCm39) |
T312M |
probably damaging |
Het |
Ppp4r3c2 |
T |
C |
X: 88,796,210 (GRCm39) |
V14A |
probably benign |
Het |
Ptpn12 |
G |
T |
5: 21,224,244 (GRCm39) |
D116E |
probably damaging |
Het |
Ptprb |
A |
G |
10: 116,174,569 (GRCm39) |
D747G |
probably damaging |
Het |
Scn9a |
A |
G |
2: 66,366,440 (GRCm39) |
|
probably null |
Het |
Slit3 |
T |
C |
11: 35,591,172 (GRCm39) |
V1328A |
probably benign |
Het |
Sucla2 |
C |
A |
14: 73,819,246 (GRCm39) |
S264Y |
probably benign |
Het |
Tagln3 |
T |
C |
16: 45,544,596 (GRCm39) |
D25G |
probably benign |
Het |
Tbck |
A |
G |
3: 132,480,247 (GRCm39) |
T709A |
probably benign |
Het |
Tead1 |
C |
T |
7: 112,460,663 (GRCm39) |
A189V |
probably benign |
Het |
Tmem234 |
A |
G |
4: 129,494,896 (GRCm39) |
Q46R |
probably damaging |
Het |
Trpm1 |
T |
A |
7: 63,868,881 (GRCm39) |
L395Q |
probably damaging |
Het |
Tti2 |
T |
A |
8: 31,645,942 (GRCm39) |
W419R |
probably damaging |
Het |
Vmn2r3 |
A |
T |
3: 64,194,816 (GRCm39) |
M34K |
probably benign |
Het |
Vps13c |
G |
T |
9: 67,793,530 (GRCm39) |
|
probably benign |
Het |
Zfp521 |
A |
T |
18: 13,977,987 (GRCm39) |
Y809N |
probably benign |
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 |
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 |
|
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 |
|
|
Posted On |
2015-04-16 |