Incidental Mutation 'R5928:Catsperg1'
ID |
460007 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Catsperg1
|
Ensembl Gene |
ENSMUSG00000049676 |
Gene Name |
cation channel sperm associated auxiliary subunit gamma 1 |
Synonyms |
A230107C01Rik, Catsperg |
MMRRC Submission |
044123-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.078)
|
Stock # |
R5928 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
7 |
Chromosomal Location |
28880746-28913460 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 28906040 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Threonine
at position 180
(S180T)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000129837
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000047846]
[ENSMUST00000069861]
[ENSMUST00000163782]
[ENSMUST00000164653]
[ENSMUST00000169143]
|
AlphaFold |
E9Q355 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000047846
AA Change: S180T
PolyPhen 2
Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000045233 Gene: ENSMUSG00000049676 AA Change: S180T
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: ENSMUST00000163445
|
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: ENSMUST00000172226
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000169143
AA Change: S180T
PolyPhen 2
Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000129837 Gene: ENSMUSG00000049676 AA Change: S180T
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: ENSMUST00000166654
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000165907
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000166419
|
Meta Mutation Damage Score |
0.6467 |
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.5%
- 10x: 97.8%
- 20x: 93.3%
|
Validation Efficiency |
97% (90/93) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 80 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca17 |
T |
A |
17: 24,537,159 (GRCm39) |
I475L |
probably benign |
Het |
Abcc2 |
C |
T |
19: 43,807,797 (GRCm39) |
R813W |
probably damaging |
Het |
Adam34 |
T |
C |
8: 44,105,067 (GRCm39) |
T193A |
probably benign |
Het |
Adgb |
T |
C |
10: 10,254,531 (GRCm39) |
D1118G |
probably damaging |
Het |
Adprh |
A |
C |
16: 38,267,746 (GRCm39) |
S180A |
probably benign |
Het |
Atad5 |
A |
T |
11: 79,985,003 (GRCm39) |
D30V |
probably damaging |
Het |
Best3 |
G |
A |
10: 116,843,532 (GRCm39) |
D303N |
probably damaging |
Het |
Bmp2k |
G |
C |
5: 97,235,595 (GRCm39) |
|
probably benign |
Het |
Btc |
A |
T |
5: 91,514,004 (GRCm39) |
V86E |
probably damaging |
Het |
Cacna2d4 |
G |
T |
6: 119,258,659 (GRCm39) |
A582S |
probably benign |
Het |
Carm1 |
A |
G |
9: 21,486,598 (GRCm39) |
|
probably benign |
Het |
Ccdc185 |
A |
T |
1: 182,575,047 (GRCm39) |
H547Q |
probably benign |
Het |
Ccl6 |
A |
G |
11: 83,479,658 (GRCm39) |
I115T |
possibly damaging |
Het |
Cd44 |
C |
T |
2: 102,654,648 (GRCm39) |
V470M |
probably damaging |
Het |
Cdc25a |
T |
C |
9: 109,718,861 (GRCm39) |
V354A |
probably damaging |
Het |
Cdhr2 |
C |
A |
13: 54,881,832 (GRCm39) |
Q1122K |
probably benign |
Het |
Cep290 |
A |
G |
10: 100,387,692 (GRCm39) |
K1958E |
probably damaging |
Het |
Cfap53 |
C |
T |
18: 74,492,811 (GRCm39) |
P512S |
possibly damaging |
Het |
Chrdl2 |
A |
T |
7: 99,659,200 (GRCm39) |
|
probably benign |
Het |
Cibar1 |
A |
G |
4: 12,171,919 (GRCm39) |
|
probably benign |
Het |
Clec7a |
A |
T |
6: 129,442,430 (GRCm39) |
F199Y |
probably damaging |
Het |
Cracd |
A |
C |
5: 76,989,581 (GRCm39) |
|
probably benign |
Het |
Dhx29 |
A |
G |
13: 113,101,002 (GRCm39) |
K1182E |
probably benign |
Het |
Dnah11 |
G |
T |
12: 117,878,371 (GRCm39) |
|
probably null |
Het |
Dnmt3a |
A |
G |
12: 3,916,096 (GRCm39) |
S94G |
possibly damaging |
Het |
Ecpas |
A |
T |
4: 58,849,948 (GRCm39) |
M425K |
possibly damaging |
Het |
Egfem1 |
T |
C |
3: 29,637,077 (GRCm39) |
V42A |
possibly damaging |
Het |
Eif3e |
T |
A |
15: 43,138,728 (GRCm39) |
|
probably null |
Het |
Exosc9 |
T |
A |
3: 36,609,774 (GRCm39) |
|
probably benign |
Het |
Fbxw18 |
T |
A |
9: 109,529,149 (GRCm39) |
T135S |
probably damaging |
Het |
Fbxw21 |
T |
C |
9: 108,972,893 (GRCm39) |
E347G |
possibly damaging |
Het |
Gcm2 |
A |
G |
13: 41,256,874 (GRCm39) |
Y292H |
probably benign |
Het |
Gltpd2 |
C |
A |
11: 70,410,179 (GRCm39) |
Q46K |
probably benign |
Het |
Gm6741 |
A |
G |
17: 91,544,528 (GRCm39) |
Y97C |
probably damaging |
Het |
Golgb1 |
T |
C |
16: 36,732,349 (GRCm39) |
L532S |
probably damaging |
Het |
Hdac3 |
C |
T |
18: 38,074,394 (GRCm39) |
|
probably benign |
Het |
Helz2 |
A |
T |
2: 180,872,177 (GRCm39) |
F2554L |
possibly damaging |
Het |
Hmbox1 |
T |
A |
14: 65,061,122 (GRCm39) |
H384L |
possibly damaging |
Het |
Hmcn1 |
G |
T |
1: 150,474,648 (GRCm39) |
D4746E |
possibly damaging |
Het |
Il17rb |
C |
A |
14: 29,726,232 (GRCm39) |
|
probably null |
Het |
Irak2 |
A |
T |
6: 113,653,587 (GRCm39) |
I252F |
probably damaging |
Het |
Khnyn |
C |
T |
14: 56,123,344 (GRCm39) |
R33C |
probably damaging |
Het |
Ksr1 |
G |
A |
11: 78,950,545 (GRCm39) |
P20L |
probably damaging |
Het |
Lamc3 |
T |
C |
2: 31,811,721 (GRCm39) |
Y903H |
probably benign |
Het |
Miga2 |
T |
C |
2: 30,258,875 (GRCm39) |
|
probably benign |
Het |
Mroh2a |
A |
C |
1: 88,169,340 (GRCm39) |
I672L |
probably benign |
Het |
Ncoa4 |
T |
C |
14: 31,888,678 (GRCm39) |
|
probably null |
Het |
Nphp3 |
T |
C |
9: 103,912,996 (GRCm39) |
Y925H |
probably benign |
Het |
Nr2c1 |
T |
G |
10: 94,024,055 (GRCm39) |
L420R |
probably damaging |
Het |
Onecut1 |
A |
G |
9: 74,770,066 (GRCm39) |
N163S |
probably benign |
Het |
Or5ac21 |
G |
A |
16: 59,123,521 (GRCm39) |
E2K |
probably damaging |
Het |
Or5d47 |
T |
A |
2: 87,804,380 (GRCm39) |
S210C |
probably benign |
Het |
Or7e166 |
A |
T |
9: 19,625,049 (GRCm39) |
T309S |
probably benign |
Het |
Pcdhb18 |
G |
A |
18: 37,623,537 (GRCm39) |
R289Q |
probably benign |
Het |
Per2 |
C |
T |
1: 91,372,373 (GRCm39) |
V234I |
probably damaging |
Het |
Pign |
A |
G |
1: 105,485,792 (GRCm39) |
V735A |
possibly damaging |
Het |
Plekha7 |
T |
C |
7: 115,727,809 (GRCm39) |
K85R |
probably benign |
Het |
Pnma2 |
C |
T |
14: 67,154,323 (GRCm39) |
T249I |
probably benign |
Het |
Polr2b |
A |
G |
5: 77,493,189 (GRCm39) |
D1057G |
probably damaging |
Het |
Polrmt |
A |
T |
10: 79,576,186 (GRCm39) |
L519H |
probably damaging |
Het |
Ptar1 |
T |
C |
19: 23,695,277 (GRCm39) |
I248T |
probably benign |
Het |
Ptprh |
A |
C |
7: 4,576,507 (GRCm39) |
L251R |
probably damaging |
Het |
Purg |
T |
C |
8: 33,876,980 (GRCm39) |
M206T |
probably benign |
Het |
Pwp2 |
A |
T |
10: 78,018,290 (GRCm39) |
F134I |
probably damaging |
Het |
Riok3 |
T |
A |
18: 12,286,075 (GRCm39) |
H434Q |
probably benign |
Het |
Sorbs2 |
A |
G |
8: 46,216,220 (GRCm39) |
I187V |
probably damaging |
Het |
Tbc1d2b |
T |
C |
9: 90,101,197 (GRCm39) |
I598V |
probably benign |
Het |
Tdg |
T |
A |
10: 82,477,204 (GRCm39) |
V85E |
probably benign |
Het |
Tfb1m |
C |
T |
17: 3,593,422 (GRCm39) |
V166I |
probably benign |
Het |
Tmem163 |
A |
T |
1: 127,419,383 (GRCm39) |
M274K |
probably damaging |
Het |
Tpr |
T |
C |
1: 150,303,878 (GRCm39) |
I1343T |
probably benign |
Het |
Ttn |
T |
A |
2: 76,719,794 (GRCm39) |
|
probably benign |
Het |
Tut7 |
G |
A |
13: 59,969,880 (GRCm39) |
A5V |
probably benign |
Het |
Usp34 |
A |
G |
11: 23,386,040 (GRCm39) |
T2156A |
probably damaging |
Het |
Vmn1r215 |
A |
T |
13: 23,260,487 (GRCm39) |
T176S |
possibly damaging |
Het |
Vps52 |
C |
T |
17: 34,180,100 (GRCm39) |
P268L |
possibly damaging |
Het |
Xbp1 |
G |
A |
11: 5,473,514 (GRCm39) |
|
probably benign |
Het |
Ythdc2 |
T |
A |
18: 44,966,272 (GRCm39) |
F169L |
probably benign |
Het |
Zfyve16 |
T |
C |
13: 92,658,625 (GRCm39) |
R429G |
probably benign |
Het |
Zzef1 |
A |
G |
11: 72,803,678 (GRCm39) |
E2504G |
probably damaging |
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 |
|
IGL02484:Catsperg1
|
APN |
7 |
28,910,345 (GRCm39) |
start gained |
probably benign |
|
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- TCATATTCACATAGAACCTGCAAGC -3'
(R):5'- CCAAACTGCTTGATGGTGGTG -3'
Sequencing Primer
(F):5'- TCCAGTGAGGAATGCCATCTCAG -3'
(R):5'- CTTGATGGTGGTGGGTGG -3'
|
Posted On |
2017-02-28 |