Incidental Mutation 'IGL01791:Catsperg2'
ID |
155235 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Catsperg2
|
Ensembl Gene |
ENSMUSG00000049123 |
Gene Name |
cation channel sperm associated auxiliary subunit gamma 2 |
Synonyms |
CATSPERG, 1700067C01Rik |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.081)
|
Stock # |
IGL01791
|
Quality Score |
|
Status
|
|
Chromosome |
7 |
Chromosomal Location |
29396644-29426457 bp(-) (GRCm39) |
Type of Mutation |
splice site (3 bp from exon) |
DNA Base Change (assembly) |
T to A
at 29404090 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000147099
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000061193]
[ENSMUST00000061193]
[ENSMUST00000207115]
[ENSMUST00000208371]
[ENSMUST00000208607]
[ENSMUST00000209126]
[ENSMUST00000209126]
|
AlphaFold |
C6KI89 |
Predicted Effect |
probably null
Transcript: ENSMUST00000061193
|
SMART Domains |
Protein: ENSMUSP00000052285 Gene: ENSMUSG00000049123
Domain | Start | End | E-Value | Type |
Pfam:CATSPERG
|
2 |
973 |
N/A |
PFAM |
transmembrane domain
|
1065 |
1087 |
N/A |
INTRINSIC |
low complexity region
|
1106 |
1118 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000061193
|
SMART Domains |
Protein: ENSMUSP00000052285 Gene: ENSMUSG00000049123
Domain | Start | End | E-Value | Type |
Pfam:CATSPERG
|
2 |
973 |
N/A |
PFAM |
transmembrane domain
|
1065 |
1087 |
N/A |
INTRINSIC |
low complexity region
|
1106 |
1118 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000207115
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000207483
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000208371
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000208607
|
Predicted Effect |
probably null
Transcript: ENSMUST00000209126
|
Predicted Effect |
probably null
Transcript: ENSMUST00000209126
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 38 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Arhgap32 |
A |
G |
9: 32,158,486 (GRCm39) |
I174V |
probably damaging |
Het |
Asb15 |
T |
A |
6: 24,567,211 (GRCm39) |
C511S |
probably damaging |
Het |
Atr |
C |
T |
9: 95,803,834 (GRCm39) |
A1896V |
probably benign |
Het |
B3gnt4 |
C |
T |
5: 123,649,162 (GRCm39) |
R176C |
probably damaging |
Het |
Brf1 |
T |
C |
12: 112,926,095 (GRCm39) |
D557G |
probably benign |
Het |
Cdip1 |
A |
G |
16: 4,586,729 (GRCm39) |
I122T |
probably damaging |
Het |
Ctrl |
C |
T |
8: 106,659,199 (GRCm39) |
E147K |
probably benign |
Het |
Dennd2c |
T |
C |
3: 103,073,741 (GRCm39) |
V829A |
probably benign |
Het |
Dync1h1 |
T |
A |
12: 110,625,364 (GRCm39) |
L3874Q |
probably damaging |
Het |
Dynlt4 |
T |
A |
4: 116,985,794 (GRCm39) |
S206T |
probably damaging |
Het |
Gm10521 |
T |
C |
1: 171,723,964 (GRCm39) |
S92P |
unknown |
Het |
Gm57858 |
T |
C |
3: 36,089,416 (GRCm39) |
|
probably benign |
Het |
Gzf1 |
G |
A |
2: 148,525,981 (GRCm39) |
A151T |
probably benign |
Het |
Hddc2 |
A |
G |
10: 31,202,022 (GRCm39) |
Y123C |
probably damaging |
Het |
Hyal4 |
T |
C |
6: 24,763,894 (GRCm39) |
|
probably benign |
Het |
Ighv16-1 |
T |
C |
12: 114,032,589 (GRCm39) |
N71S |
probably benign |
Het |
Ing2 |
A |
T |
8: 48,122,070 (GRCm39) |
S159R |
probably benign |
Het |
Itga1 |
A |
T |
13: 115,124,197 (GRCm39) |
N698K |
probably benign |
Het |
Lemd2 |
A |
T |
17: 27,409,702 (GRCm39) |
I483N |
probably damaging |
Het |
Lyst |
T |
C |
13: 13,809,887 (GRCm39) |
L519P |
probably damaging |
Het |
Mapk10 |
T |
C |
5: 103,144,514 (GRCm39) |
N101S |
probably damaging |
Het |
Nfatc4 |
A |
T |
14: 56,069,695 (GRCm39) |
E164V |
probably null |
Het |
Nfkb2 |
T |
G |
19: 46,298,278 (GRCm39) |
|
probably benign |
Het |
Nox3 |
A |
G |
17: 3,733,218 (GRCm39) |
V231A |
possibly damaging |
Het |
Nup160 |
G |
A |
2: 90,534,197 (GRCm39) |
G674D |
probably damaging |
Het |
Or1l4b |
A |
T |
2: 37,036,548 (GRCm39) |
D108V |
probably damaging |
Het |
Or56b1 |
C |
T |
7: 104,285,682 (GRCm39) |
T267I |
possibly damaging |
Het |
Otoa |
T |
G |
7: 120,755,072 (GRCm39) |
V998G |
probably benign |
Het |
Pcnx3 |
A |
T |
19: 5,723,295 (GRCm39) |
M1300K |
probably benign |
Het |
Pde4b |
A |
G |
4: 102,448,127 (GRCm39) |
|
probably benign |
Het |
Rfc1 |
T |
A |
5: 65,420,488 (GRCm39) |
K1104I |
probably benign |
Het |
Serpina1f |
G |
T |
12: 103,659,761 (GRCm39) |
Q174K |
probably damaging |
Het |
Serping1 |
T |
C |
2: 84,603,721 (GRCm39) |
N107D |
possibly damaging |
Het |
Speer4c2 |
C |
A |
5: 15,861,884 (GRCm39) |
|
probably benign |
Het |
Surf6 |
A |
G |
2: 26,789,759 (GRCm39) |
S94P |
probably benign |
Het |
Tigd4 |
T |
A |
3: 84,502,052 (GRCm39) |
I323N |
probably damaging |
Het |
Vmn2r28 |
T |
C |
7: 5,491,161 (GRCm39) |
D362G |
probably benign |
Het |
Wdfy3 |
A |
G |
5: 102,085,278 (GRCm39) |
S739P |
probably damaging |
Het |
|
Other mutations in Catsperg2 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00088:Catsperg2
|
APN |
7 |
29,404,829 (GRCm39) |
missense |
possibly damaging |
0.86 |
IGL00095:Catsperg2
|
APN |
7 |
29,397,483 (GRCm39) |
missense |
possibly damaging |
0.73 |
IGL00902:Catsperg2
|
APN |
7 |
29,400,568 (GRCm39) |
missense |
possibly damaging |
0.93 |
IGL01667:Catsperg2
|
APN |
7 |
29,409,558 (GRCm39) |
missense |
probably damaging |
0.98 |
IGL01961:Catsperg2
|
APN |
7 |
29,421,097 (GRCm39) |
splice site |
probably benign |
|
IGL02187:Catsperg2
|
APN |
7 |
29,420,791 (GRCm39) |
missense |
probably benign |
0.02 |
IGL02605:Catsperg2
|
APN |
7 |
29,418,990 (GRCm39) |
missense |
possibly damaging |
0.71 |
IGL03001:Catsperg2
|
APN |
7 |
29,424,504 (GRCm39) |
missense |
probably benign |
0.32 |
IGL03228:Catsperg2
|
APN |
7 |
29,397,650 (GRCm39) |
missense |
probably damaging |
0.96 |
IGL03239:Catsperg2
|
APN |
7 |
29,397,141 (GRCm39) |
missense |
probably benign |
0.04 |
IGL03242:Catsperg2
|
APN |
7 |
29,424,904 (GRCm39) |
unclassified |
probably benign |
|
IGL03247:Catsperg2
|
APN |
7 |
29,416,473 (GRCm39) |
missense |
possibly damaging |
0.71 |
IGL03256:Catsperg2
|
APN |
7 |
29,409,299 (GRCm39) |
missense |
probably damaging |
0.99 |
PIT4520001:Catsperg2
|
UTSW |
7 |
29,409,586 (GRCm39) |
missense |
possibly damaging |
0.93 |
R0052:Catsperg2
|
UTSW |
7 |
29,424,445 (GRCm39) |
splice site |
probably benign |
|
R0281:Catsperg2
|
UTSW |
7 |
29,405,996 (GRCm39) |
missense |
possibly damaging |
0.86 |
R0357:Catsperg2
|
UTSW |
7 |
29,414,326 (GRCm39) |
missense |
possibly damaging |
0.93 |
R0480:Catsperg2
|
UTSW |
7 |
29,420,723 (GRCm39) |
missense |
probably damaging |
0.98 |
R0578:Catsperg2
|
UTSW |
7 |
29,404,116 (GRCm39) |
missense |
possibly damaging |
0.71 |
R0732:Catsperg2
|
UTSW |
7 |
29,400,121 (GRCm39) |
missense |
probably damaging |
1.00 |
R0826:Catsperg2
|
UTSW |
7 |
29,405,049 (GRCm39) |
missense |
possibly damaging |
0.92 |
R1535:Catsperg2
|
UTSW |
7 |
29,397,671 (GRCm39) |
missense |
possibly damaging |
0.85 |
R1925:Catsperg2
|
UTSW |
7 |
29,397,189 (GRCm39) |
missense |
probably benign |
0.01 |
R1990:Catsperg2
|
UTSW |
7 |
29,420,470 (GRCm39) |
nonsense |
probably null |
|
R3433:Catsperg2
|
UTSW |
7 |
29,400,643 (GRCm39) |
missense |
possibly damaging |
0.71 |
R3721:Catsperg2
|
UTSW |
7 |
29,404,527 (GRCm39) |
missense |
probably benign |
0.02 |
R4020:Catsperg2
|
UTSW |
7 |
29,416,429 (GRCm39) |
missense |
probably damaging |
0.99 |
R4760:Catsperg2
|
UTSW |
7 |
29,405,060 (GRCm39) |
missense |
probably damaging |
0.99 |
R4829:Catsperg2
|
UTSW |
7 |
29,400,550 (GRCm39) |
missense |
probably damaging |
0.98 |
R5033:Catsperg2
|
UTSW |
7 |
29,409,559 (GRCm39) |
missense |
possibly damaging |
0.93 |
R5093:Catsperg2
|
UTSW |
7 |
29,416,423 (GRCm39) |
missense |
probably benign |
0.32 |
R5266:Catsperg2
|
UTSW |
7 |
29,416,491 (GRCm39) |
missense |
probably damaging |
0.98 |
R5267:Catsperg2
|
UTSW |
7 |
29,416,491 (GRCm39) |
missense |
probably damaging |
0.98 |
R5287:Catsperg2
|
UTSW |
7 |
29,397,263 (GRCm39) |
missense |
possibly damaging |
0.96 |
R5427:Catsperg2
|
UTSW |
7 |
29,414,275 (GRCm39) |
missense |
possibly damaging |
0.71 |
R5575:Catsperg2
|
UTSW |
7 |
29,405,015 (GRCm39) |
missense |
possibly damaging |
0.84 |
R5685:Catsperg2
|
UTSW |
7 |
29,400,613 (GRCm39) |
missense |
probably damaging |
1.00 |
R5844:Catsperg2
|
UTSW |
7 |
29,397,257 (GRCm39) |
missense |
possibly damaging |
0.96 |
R5982:Catsperg2
|
UTSW |
7 |
29,412,442 (GRCm39) |
missense |
possibly damaging |
0.51 |
R6662:Catsperg2
|
UTSW |
7 |
29,418,938 (GRCm39) |
start gained |
probably benign |
|
R6744:Catsperg2
|
UTSW |
7 |
29,409,244 (GRCm39) |
missense |
probably benign |
0.23 |
R7171:Catsperg2
|
UTSW |
7 |
29,404,750 (GRCm39) |
missense |
possibly damaging |
0.71 |
R7239:Catsperg2
|
UTSW |
7 |
29,409,507 (GRCm39) |
missense |
probably benign |
0.00 |
R7336:Catsperg2
|
UTSW |
7 |
29,406,026 (GRCm39) |
missense |
possibly damaging |
0.83 |
R7498:Catsperg2
|
UTSW |
7 |
29,416,527 (GRCm39) |
missense |
possibly damaging |
0.71 |
R7548:Catsperg2
|
UTSW |
7 |
29,409,251 (GRCm39) |
missense |
probably benign |
0.32 |
R7562:Catsperg2
|
UTSW |
7 |
29,397,144 (GRCm39) |
missense |
probably benign |
0.18 |
R7565:Catsperg2
|
UTSW |
7 |
29,412,406 (GRCm39) |
missense |
probably null |
0.71 |
R7600:Catsperg2
|
UTSW |
7 |
29,404,283 (GRCm39) |
missense |
probably benign |
0.32 |
R8460:Catsperg2
|
UTSW |
7 |
29,404,744 (GRCm39) |
missense |
possibly damaging |
0.92 |
R8461:Catsperg2
|
UTSW |
7 |
29,404,744 (GRCm39) |
missense |
possibly damaging |
0.92 |
R8751:Catsperg2
|
UTSW |
7 |
29,404,744 (GRCm39) |
missense |
possibly damaging |
0.92 |
R8752:Catsperg2
|
UTSW |
7 |
29,404,744 (GRCm39) |
missense |
possibly damaging |
0.92 |
R8829:Catsperg2
|
UTSW |
7 |
29,397,269 (GRCm39) |
missense |
probably benign |
0.33 |
R8832:Catsperg2
|
UTSW |
7 |
29,397,269 (GRCm39) |
missense |
probably benign |
0.33 |
R9264:Catsperg2
|
UTSW |
7 |
29,397,613 (GRCm39) |
missense |
possibly damaging |
0.72 |
R9284:Catsperg2
|
UTSW |
7 |
29,405,006 (GRCm39) |
critical splice donor site |
probably null |
|
R9468:Catsperg2
|
UTSW |
7 |
29,409,432 (GRCm39) |
critical splice donor site |
probably null |
|
Z1177:Catsperg2
|
UTSW |
7 |
29,397,207 (GRCm39) |
missense |
possibly damaging |
0.96 |
|
Posted On |
2014-02-04 |