Incidental Mutation 'IGL02484:Catsperg1'
ID |
295381 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Catsperg1
|
Ensembl Gene |
ENSMUSG00000049676 |
Gene Name |
cation channel sperm associated auxiliary subunit gamma 1 |
Synonyms |
A230107C01Rik, Catsperg |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.078)
|
Stock # |
IGL02484
|
Quality Score |
|
Status
|
|
Chromosome |
7 |
Chromosomal Location |
28880746-28913460 bp(-) (GRCm39) |
Type of Mutation |
start gained |
DNA Base Change (assembly) |
T to C
at 28910345 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000129837
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000047846]
[ENSMUST00000069861]
[ENSMUST00000163782]
[ENSMUST00000164653]
[ENSMUST00000169143]
|
AlphaFold |
E9Q355 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000047846
|
SMART Domains |
Protein: ENSMUSP00000045233 Gene: ENSMUSG00000049676
Domain | Start | End | E-Value | Type |
Pfam:CATSPERG
|
1 |
920 |
N/A |
PFAM |
transmembrane domain
|
1012 |
1034 |
N/A |
INTRINSIC |
low complexity region
|
1058 |
1073 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000069861
|
SMART Domains |
Protein: ENSMUSP00000067388 Gene: ENSMUSG00000049676
Domain | Start | End | E-Value | Type |
Pfam:CATSPERG
|
1 |
57 |
7.9e-14 |
PFAM |
Pfam:CATSPERG
|
73 |
205 |
7e-65 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000085819
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000163614
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000163782
|
SMART Domains |
Protein: ENSMUSP00000127409 Gene: ENSMUSG00000049676
Domain | Start | End | E-Value | Type |
Pfam:CATSPERG
|
1 |
93 |
1.7e-52 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000164653
|
SMART Domains |
Protein: ENSMUSP00000131827 Gene: ENSMUSG00000049676
Domain | Start | End | E-Value | Type |
Pfam:CATSPERG
|
1 |
111 |
1.4e-44 |
PFAM |
Pfam:CATSPERG
|
108 |
334 |
8.5e-93 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000165907
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000169143
|
SMART Domains |
Protein: ENSMUSP00000129837 Gene: ENSMUSG00000049676
Domain | Start | End | E-Value | Type |
Pfam:CATSPERG
|
2 |
973 |
N/A |
PFAM |
transmembrane domain
|
1065 |
1087 |
N/A |
INTRINSIC |
low complexity region
|
1111 |
1126 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000167064
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000172226
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000166654
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000166419
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 45 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4930432E11Rik |
A |
C |
7: 29,262,777 (GRCm39) |
|
noncoding transcript |
Het |
Araf |
A |
G |
X: 20,720,148 (GRCm39) |
|
probably benign |
Het |
Arrb2 |
T |
A |
11: 70,330,300 (GRCm39) |
V308E |
probably damaging |
Het |
Asap3 |
A |
G |
4: 135,956,768 (GRCm39) |
|
probably benign |
Het |
Astn2 |
G |
A |
4: 65,910,516 (GRCm39) |
|
probably benign |
Het |
Cactin |
T |
A |
10: 81,158,808 (GRCm39) |
I258N |
probably benign |
Het |
Calhm6 |
T |
C |
10: 34,002,400 (GRCm39) |
T228A |
probably benign |
Het |
Ccna1 |
C |
T |
3: 54,955,915 (GRCm39) |
D146N |
probably benign |
Het |
Chrna3 |
T |
C |
9: 54,922,821 (GRCm39) |
Y329C |
probably damaging |
Het |
Ctps2 |
G |
A |
X: 161,693,005 (GRCm39) |
G56D |
probably damaging |
Het |
Cyp4b1 |
T |
C |
4: 115,504,754 (GRCm39) |
D44G |
probably benign |
Het |
D3Ertd751e |
A |
G |
3: 41,708,155 (GRCm39) |
|
probably null |
Het |
Daxx |
T |
C |
17: 34,131,216 (GRCm39) |
V381A |
probably damaging |
Het |
Dhx37 |
T |
A |
5: 125,496,401 (GRCm39) |
I714F |
possibly damaging |
Het |
Dnah7b |
T |
C |
1: 46,234,478 (GRCm39) |
V1470A |
probably damaging |
Het |
Efl1 |
T |
C |
7: 82,332,247 (GRCm39) |
I297T |
probably damaging |
Het |
Fnd3c2 |
A |
T |
X: 105,289,092 (GRCm39) |
H442Q |
probably damaging |
Het |
Glp2r |
A |
C |
11: 67,630,992 (GRCm39) |
V126G |
possibly damaging |
Het |
Gm5699 |
G |
T |
1: 31,037,843 (GRCm39) |
|
noncoding transcript |
Het |
Gpt2 |
A |
G |
8: 86,242,862 (GRCm39) |
D298G |
probably damaging |
Het |
Gse1 |
G |
T |
8: 121,302,001 (GRCm39) |
|
probably benign |
Het |
Hand1 |
T |
C |
11: 57,722,420 (GRCm39) |
T65A |
probably benign |
Het |
Ints8 |
G |
A |
4: 11,208,834 (GRCm39) |
Q955* |
probably null |
Het |
Lrguk |
C |
T |
6: 34,069,726 (GRCm39) |
P534S |
probably damaging |
Het |
Lrp6 |
A |
G |
6: 134,518,886 (GRCm39) |
F60L |
probably benign |
Het |
Mamld1 |
T |
C |
X: 70,162,258 (GRCm39) |
I423T |
possibly damaging |
Het |
Mrpl22 |
G |
A |
11: 58,063,888 (GRCm39) |
S36N |
possibly damaging |
Het |
Mug2 |
A |
G |
6: 122,049,712 (GRCm39) |
E915G |
probably damaging |
Het |
Oosp2 |
T |
C |
19: 11,628,847 (GRCm39) |
T85A |
probably benign |
Het |
Or5b94 |
T |
C |
19: 12,652,223 (GRCm39) |
F218S |
possibly damaging |
Het |
Or5p68 |
C |
T |
7: 107,945,813 (GRCm39) |
R125Q |
probably damaging |
Het |
Pde4c |
T |
A |
8: 71,200,701 (GRCm39) |
|
probably benign |
Het |
Pdxdc1 |
T |
C |
16: 13,693,945 (GRCm39) |
E159G |
possibly damaging |
Het |
Poln |
T |
C |
5: 34,286,721 (GRCm39) |
E149G |
probably damaging |
Het |
Pou5f2 |
T |
G |
13: 78,174,024 (GRCm39) |
L322R |
probably damaging |
Het |
Ppm1k |
A |
T |
6: 57,501,997 (GRCm39) |
S55R |
possibly damaging |
Het |
Ptges2 |
T |
A |
2: 32,287,719 (GRCm39) |
I149N |
probably damaging |
Het |
Pus7l |
A |
G |
15: 94,427,369 (GRCm39) |
V471A |
possibly damaging |
Het |
Raet1e |
A |
T |
10: 22,056,666 (GRCm39) |
M81L |
probably benign |
Het |
Sipa1l3 |
A |
G |
7: 29,098,956 (GRCm39) |
S438P |
probably damaging |
Het |
Skint5 |
T |
A |
4: 113,799,750 (GRCm39) |
K126* |
probably null |
Het |
Stfa2 |
T |
C |
16: 36,225,569 (GRCm39) |
T37A |
probably damaging |
Het |
Ttll12 |
A |
G |
15: 83,465,897 (GRCm39) |
I433T |
possibly damaging |
Het |
Vmn2r32 |
C |
T |
7: 7,467,116 (GRCm39) |
G804D |
probably damaging |
Het |
Zc3h14 |
A |
G |
12: 98,740,560 (GRCm39) |
T84A |
probably benign |
Het |
|
Other mutations in Catsperg1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00808:Catsperg1
|
APN |
7 |
28,897,571 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01693:Catsperg1
|
APN |
7 |
28,884,523 (GRCm39) |
unclassified |
probably benign |
|
IGL01935:Catsperg1
|
APN |
7 |
28,895,296 (GRCm39) |
splice site |
probably null |
|
IGL02584:Catsperg1
|
APN |
7 |
28,884,146 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02880:Catsperg1
|
APN |
7 |
28,894,910 (GRCm39) |
missense |
possibly damaging |
0.75 |
IGL03268:Catsperg1
|
APN |
7 |
28,899,668 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03285:Catsperg1
|
APN |
7 |
28,897,597 (GRCm39) |
missense |
possibly damaging |
0.89 |
solid
|
UTSW |
7 |
28,889,723 (GRCm39) |
nonsense |
probably null |
|
K7894:Catsperg1
|
UTSW |
7 |
28,896,579 (GRCm39) |
intron |
probably benign |
|
R0180:Catsperg1
|
UTSW |
7 |
28,889,856 (GRCm39) |
splice site |
probably null |
|
R0344:Catsperg1
|
UTSW |
7 |
28,894,965 (GRCm39) |
missense |
probably damaging |
1.00 |
R0523:Catsperg1
|
UTSW |
7 |
28,884,615 (GRCm39) |
unclassified |
probably benign |
|
R0561:Catsperg1
|
UTSW |
7 |
28,881,737 (GRCm39) |
missense |
probably damaging |
1.00 |
R0610:Catsperg1
|
UTSW |
7 |
28,890,044 (GRCm39) |
missense |
probably damaging |
1.00 |
R0762:Catsperg1
|
UTSW |
7 |
28,889,377 (GRCm39) |
missense |
probably benign |
0.03 |
R1074:Catsperg1
|
UTSW |
7 |
28,906,274 (GRCm39) |
missense |
probably damaging |
1.00 |
R1201:Catsperg1
|
UTSW |
7 |
28,891,095 (GRCm39) |
missense |
possibly damaging |
0.77 |
R1346:Catsperg1
|
UTSW |
7 |
28,881,759 (GRCm39) |
splice site |
probably null |
|
R1387:Catsperg1
|
UTSW |
7 |
28,906,289 (GRCm39) |
missense |
probably damaging |
1.00 |
R1467:Catsperg1
|
UTSW |
7 |
28,884,433 (GRCm39) |
missense |
probably damaging |
1.00 |
R1467:Catsperg1
|
UTSW |
7 |
28,884,433 (GRCm39) |
missense |
probably damaging |
1.00 |
R1486:Catsperg1
|
UTSW |
7 |
28,884,920 (GRCm39) |
missense |
probably damaging |
1.00 |
R1883:Catsperg1
|
UTSW |
7 |
28,881,661 (GRCm39) |
critical splice donor site |
probably null |
|
R1932:Catsperg1
|
UTSW |
7 |
28,897,568 (GRCm39) |
missense |
probably damaging |
1.00 |
R1942:Catsperg1
|
UTSW |
7 |
28,906,232 (GRCm39) |
missense |
possibly damaging |
0.89 |
R2127:Catsperg1
|
UTSW |
7 |
28,884,465 (GRCm39) |
missense |
probably damaging |
1.00 |
R2205:Catsperg1
|
UTSW |
7 |
28,884,671 (GRCm39) |
nonsense |
probably null |
|
R4214:Catsperg1
|
UTSW |
7 |
28,895,357 (GRCm39) |
missense |
possibly damaging |
0.80 |
R4678:Catsperg1
|
UTSW |
7 |
28,889,721 (GRCm39) |
missense |
probably benign |
0.13 |
R5008:Catsperg1
|
UTSW |
7 |
28,894,859 (GRCm39) |
nonsense |
probably null |
|
R5217:Catsperg1
|
UTSW |
7 |
28,889,723 (GRCm39) |
nonsense |
probably null |
|
R5268:Catsperg1
|
UTSW |
7 |
28,894,672 (GRCm39) |
missense |
probably benign |
0.41 |
R5372:Catsperg1
|
UTSW |
7 |
28,910,137 (GRCm39) |
missense |
probably benign |
0.08 |
R5393:Catsperg1
|
UTSW |
7 |
28,884,924 (GRCm39) |
missense |
probably damaging |
1.00 |
R5406:Catsperg1
|
UTSW |
7 |
28,884,948 (GRCm39) |
missense |
probably damaging |
1.00 |
R5557:Catsperg1
|
UTSW |
7 |
28,895,296 (GRCm39) |
missense |
possibly damaging |
0.89 |
R5921:Catsperg1
|
UTSW |
7 |
28,889,948 (GRCm39) |
missense |
possibly damaging |
0.78 |
R5928:Catsperg1
|
UTSW |
7 |
28,906,040 (GRCm39) |
missense |
probably damaging |
0.99 |
R5960:Catsperg1
|
UTSW |
7 |
28,884,208 (GRCm39) |
unclassified |
probably benign |
|
R6053:Catsperg1
|
UTSW |
7 |
28,910,239 (GRCm39) |
nonsense |
probably null |
|
R6144:Catsperg1
|
UTSW |
7 |
28,910,120 (GRCm39) |
missense |
probably damaging |
0.99 |
R6215:Catsperg1
|
UTSW |
7 |
28,899,664 (GRCm39) |
missense |
probably damaging |
1.00 |
R6334:Catsperg1
|
UTSW |
7 |
28,905,782 (GRCm39) |
missense |
probably benign |
0.01 |
R6446:Catsperg1
|
UTSW |
7 |
28,905,992 (GRCm39) |
missense |
probably benign |
0.00 |
R6854:Catsperg1
|
UTSW |
7 |
28,881,127 (GRCm39) |
missense |
possibly damaging |
0.72 |
R7171:Catsperg1
|
UTSW |
7 |
28,884,637 (GRCm39) |
missense |
probably damaging |
1.00 |
R7326:Catsperg1
|
UTSW |
7 |
28,910,184 (GRCm39) |
missense |
possibly damaging |
0.82 |
R7382:Catsperg1
|
UTSW |
7 |
28,904,269 (GRCm39) |
missense |
probably benign |
0.02 |
R7473:Catsperg1
|
UTSW |
7 |
28,894,903 (GRCm39) |
missense |
probably damaging |
1.00 |
R7555:Catsperg1
|
UTSW |
7 |
28,889,239 (GRCm39) |
missense |
probably damaging |
0.97 |
R7714:Catsperg1
|
UTSW |
7 |
28,884,907 (GRCm39) |
missense |
probably null |
1.00 |
R7914:Catsperg1
|
UTSW |
7 |
28,894,851 (GRCm39) |
missense |
probably benign |
|
R7935:Catsperg1
|
UTSW |
7 |
28,895,344 (GRCm39) |
missense |
possibly damaging |
0.94 |
R8684:Catsperg1
|
UTSW |
7 |
28,897,825 (GRCm39) |
missense |
probably damaging |
1.00 |
R8733:Catsperg1
|
UTSW |
7 |
28,891,111 (GRCm39) |
missense |
possibly damaging |
0.95 |
R8821:Catsperg1
|
UTSW |
7 |
28,904,361 (GRCm39) |
splice site |
probably benign |
|
R9014:Catsperg1
|
UTSW |
7 |
28,906,066 (GRCm39) |
missense |
probably damaging |
1.00 |
R9016:Catsperg1
|
UTSW |
7 |
28,891,162 (GRCm39) |
missense |
probably benign |
|
R9093:Catsperg1
|
UTSW |
7 |
28,884,152 (GRCm39) |
missense |
probably damaging |
1.00 |
R9094:Catsperg1
|
UTSW |
7 |
28,884,152 (GRCm39) |
missense |
probably damaging |
1.00 |
R9096:Catsperg1
|
UTSW |
7 |
28,884,152 (GRCm39) |
missense |
probably damaging |
1.00 |
R9146:Catsperg1
|
UTSW |
7 |
28,909,912 (GRCm39) |
missense |
probably benign |
0.07 |
R9149:Catsperg1
|
UTSW |
7 |
28,909,912 (GRCm39) |
missense |
probably benign |
0.07 |
R9297:Catsperg1
|
UTSW |
7 |
28,891,085 (GRCm39) |
missense |
probably benign |
0.23 |
R9339:Catsperg1
|
UTSW |
7 |
28,894,885 (GRCm39) |
missense |
probably benign |
0.44 |
R9435:Catsperg1
|
UTSW |
7 |
28,889,751 (GRCm39) |
missense |
probably benign |
0.02 |
R9451:Catsperg1
|
UTSW |
7 |
28,897,772 (GRCm39) |
critical splice donor site |
probably null |
|
R9478:Catsperg1
|
UTSW |
7 |
28,897,777 (GRCm39) |
missense |
possibly damaging |
0.55 |
R9557:Catsperg1
|
UTSW |
7 |
28,904,223 (GRCm39) |
missense |
probably damaging |
1.00 |
Z1186:Catsperg1
|
UTSW |
7 |
28,881,287 (GRCm39) |
missense |
possibly damaging |
0.85 |
Z1186:Catsperg1
|
UTSW |
7 |
28,881,286 (GRCm39) |
missense |
possibly damaging |
0.85 |
Z1186:Catsperg1
|
UTSW |
7 |
28,889,675 (GRCm39) |
missense |
probably benign |
|
Z1186:Catsperg1
|
UTSW |
7 |
28,881,547 (GRCm39) |
missense |
probably benign |
0.00 |
Z1186:Catsperg1
|
UTSW |
7 |
28,881,477 (GRCm39) |
missense |
probably damaging |
1.00 |
Z1186:Catsperg1
|
UTSW |
7 |
28,881,297 (GRCm39) |
missense |
probably benign |
0.00 |
|
Posted On |
2015-04-16 |