Incidental Mutation 'R1387:Catsperg1'
ID |
162424 |
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 |
039449-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.078)
|
Stock # |
R1387 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
7 |
Chromosomal Location |
28880746-28913460 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 28906289 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tyrosine to Cysteine
at position 138
(Y138C)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000129837
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000047846]
[ENSMUST00000069861]
[ENSMUST00000163782]
[ENSMUST00000169143]
[ENSMUST00000164653]
|
AlphaFold |
E9Q355 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000047846
AA Change: Y138C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000045233 Gene: ENSMUSG00000049676 AA Change: Y138C
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 damaging
Transcript: ENSMUST00000163782
AA Change: Y65C
PolyPhen 2
Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000127409 Gene: ENSMUSG00000049676 AA Change: Y65C
Domain | Start | End | E-Value | Type |
Pfam:CATSPERG
|
1 |
93 |
1.7e-52 |
PFAM |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000169143
AA Change: Y138C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000129837 Gene: ENSMUSG00000049676 AA Change: Y138C
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: ENSMUST00000172226
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000166419
|
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 |
|
Meta Mutation Damage Score |
0.1476 |
Coding Region Coverage |
- 1x: 98.9%
- 3x: 97.9%
- 10x: 95.1%
- 20x: 88.4%
|
Validation Efficiency |
99% (82/83) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 79 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
2610303G11Rik |
T |
A |
9: 98,068,812 (GRCm39) |
|
noncoding transcript |
Het |
4930447C04Rik |
C |
A |
12: 72,962,208 (GRCm39) |
R52L |
probably benign |
Het |
Abca13 |
C |
T |
11: 9,632,085 (GRCm39) |
Q5002* |
probably null |
Het |
Acacb |
T |
C |
5: 114,338,573 (GRCm39) |
I761T |
probably benign |
Het |
Acap3 |
G |
T |
4: 155,983,937 (GRCm39) |
L134F |
probably benign |
Het |
Adamtsl1 |
T |
C |
4: 86,293,230 (GRCm39) |
|
probably benign |
Het |
Adgrv1 |
A |
G |
13: 81,641,295 (GRCm39) |
V3278A |
possibly damaging |
Het |
Agxt2 |
T |
C |
15: 10,380,696 (GRCm39) |
Y196H |
probably damaging |
Het |
Akap13 |
T |
C |
7: 75,235,941 (GRCm39) |
V172A |
probably damaging |
Het |
Aqp8 |
A |
G |
7: 123,065,891 (GRCm39) |
I229V |
probably benign |
Het |
Atp8a2 |
T |
C |
14: 60,097,719 (GRCm39) |
K770E |
probably benign |
Het |
Brd10 |
A |
G |
19: 29,700,853 (GRCm39) |
I812T |
probably benign |
Het |
Cacng8 |
T |
C |
7: 3,463,672 (GRCm39) |
S275P |
possibly damaging |
Het |
Ccdc93 |
T |
G |
1: 121,418,918 (GRCm39) |
L491R |
probably damaging |
Het |
Cntnap2 |
T |
C |
6: 47,084,848 (GRCm39) |
V1103A |
probably benign |
Het |
Col12a1 |
C |
T |
9: 79,588,657 (GRCm39) |
|
probably benign |
Het |
Col6a3 |
A |
G |
1: 90,750,138 (GRCm39) |
|
probably benign |
Het |
Csf2rb2 |
C |
T |
15: 78,182,414 (GRCm39) |
A6T |
probably damaging |
Het |
Cyp2j5 |
T |
A |
4: 96,522,522 (GRCm39) |
S351C |
probably damaging |
Het |
Cyth1 |
A |
G |
11: 118,073,172 (GRCm39) |
|
probably benign |
Het |
Dock2 |
A |
G |
11: 34,223,309 (GRCm39) |
|
probably benign |
Het |
Duoxa1 |
T |
A |
2: 122,134,468 (GRCm39) |
I262F |
possibly damaging |
Het |
Dync2h1 |
T |
C |
9: 7,125,816 (GRCm39) |
D1930G |
probably benign |
Het |
Eeig1 |
T |
C |
2: 32,455,635 (GRCm39) |
S254P |
possibly damaging |
Het |
Eno1 |
C |
T |
4: 150,332,590 (GRCm39) |
|
probably benign |
Het |
Fam98a |
T |
A |
17: 75,845,264 (GRCm39) |
H494L |
unknown |
Het |
Fcamr |
C |
A |
1: 130,732,379 (GRCm39) |
T122K |
possibly damaging |
Het |
Foxq1 |
A |
G |
13: 31,743,288 (GRCm39) |
D130G |
probably damaging |
Het |
Glb1 |
T |
A |
9: 114,249,431 (GRCm39) |
W5R |
probably damaging |
Het |
Gm17661 |
GA |
GAA |
2: 90,917,709 (GRCm38) |
|
noncoding transcript |
Het |
Gm5431 |
T |
A |
11: 48,785,842 (GRCm39) |
R178W |
possibly damaging |
Het |
Gys2 |
C |
T |
6: 142,407,009 (GRCm39) |
V116M |
probably benign |
Het |
Hif1a |
C |
T |
12: 73,989,066 (GRCm39) |
T651I |
possibly damaging |
Het |
Itgb5 |
T |
A |
16: 33,720,885 (GRCm39) |
Y3* |
probably null |
Het |
Kank3 |
A |
G |
17: 34,035,205 (GRCm39) |
N7S |
possibly damaging |
Het |
Kdm2b |
G |
T |
5: 123,018,331 (GRCm39) |
H981Q |
probably damaging |
Het |
Kdm6a |
C |
T |
X: 18,120,235 (GRCm39) |
|
probably benign |
Het |
Kif1a |
A |
T |
1: 92,983,672 (GRCm39) |
|
probably benign |
Het |
Knl1 |
T |
A |
2: 118,901,211 (GRCm39) |
S971T |
possibly damaging |
Het |
Lcn6 |
T |
C |
2: 25,567,149 (GRCm39) |
V50A |
possibly damaging |
Het |
Llgl2 |
G |
T |
11: 115,743,958 (GRCm39) |
V762F |
probably damaging |
Het |
Lpcat4 |
T |
C |
2: 112,075,021 (GRCm39) |
F342L |
probably benign |
Het |
Lrp2 |
C |
A |
2: 69,287,262 (GRCm39) |
G3725V |
probably damaging |
Het |
Map1b |
T |
C |
13: 99,569,158 (GRCm39) |
T1188A |
unknown |
Het |
Mecp2 |
G |
A |
X: 73,079,394 (GRCm39) |
P362S |
possibly damaging |
Het |
Mideas |
C |
A |
12: 84,199,705 (GRCm39) |
R1005L |
probably damaging |
Het |
Mmp13 |
T |
A |
9: 7,282,033 (GRCm39) |
F445Y |
possibly damaging |
Het |
Myo5b |
G |
T |
18: 74,777,272 (GRCm39) |
|
probably benign |
Het |
Myo7b |
A |
G |
18: 32,116,805 (GRCm39) |
|
probably benign |
Het |
Nadk2 |
C |
A |
15: 9,106,870 (GRCm39) |
L384I |
possibly damaging |
Het |
Napg |
A |
G |
18: 63,119,283 (GRCm39) |
I98V |
possibly damaging |
Het |
Ncoa1 |
G |
T |
12: 4,324,790 (GRCm39) |
N1041K |
probably benign |
Het |
Nmu |
A |
T |
5: 76,497,992 (GRCm39) |
C64* |
probably null |
Het |
Nobox |
T |
A |
6: 43,284,132 (GRCm39) |
K13M |
probably damaging |
Het |
Nos1 |
T |
C |
5: 118,091,848 (GRCm39) |
|
probably benign |
Het |
Nrg2 |
A |
G |
18: 36,329,792 (GRCm39) |
V141A |
probably damaging |
Het |
Or1b1 |
T |
G |
2: 36,994,880 (GRCm39) |
I261L |
probably benign |
Het |
Or2aj5 |
T |
C |
16: 19,424,777 (GRCm39) |
I214V |
probably damaging |
Het |
Or55b4 |
T |
A |
7: 102,133,911 (GRCm39) |
I139L |
probably benign |
Het |
Phldb2 |
C |
T |
16: 45,646,357 (GRCm39) |
E71K |
possibly damaging |
Het |
Pik3r4 |
T |
A |
9: 105,521,490 (GRCm39) |
Y19N |
probably damaging |
Het |
Pkhd1 |
A |
C |
1: 20,625,447 (GRCm39) |
|
probably benign |
Het |
Pogk |
G |
T |
1: 166,227,707 (GRCm39) |
P148Q |
possibly damaging |
Het |
Pten |
G |
T |
19: 32,775,496 (GRCm39) |
A79S |
probably benign |
Het |
Ptpdc1 |
A |
T |
13: 48,739,796 (GRCm39) |
V545E |
possibly damaging |
Het |
Qdpr |
G |
C |
5: 45,607,480 (GRCm39) |
|
probably benign |
Het |
Rhbdd3 |
T |
A |
11: 5,054,121 (GRCm39) |
H83Q |
probably damaging |
Het |
Rnf6 |
A |
G |
5: 146,148,055 (GRCm39) |
V321A |
probably benign |
Het |
Rtf1 |
T |
A |
2: 119,536,126 (GRCm39) |
|
probably null |
Het |
Serpina10 |
C |
T |
12: 103,594,500 (GRCm39) |
V240I |
probably benign |
Het |
Siah2 |
A |
G |
3: 58,598,935 (GRCm39) |
V101A |
possibly damaging |
Het |
Taok3 |
A |
G |
5: 117,344,720 (GRCm39) |
K46R |
probably damaging |
Het |
Tcaf2 |
A |
C |
6: 42,601,512 (GRCm39) |
L849R |
probably damaging |
Het |
Upf3a |
T |
C |
8: 13,842,118 (GRCm39) |
F178S |
probably damaging |
Het |
Vmn1r218 |
G |
A |
13: 23,321,478 (GRCm39) |
G195D |
probably damaging |
Het |
Vmn2r59 |
A |
G |
7: 41,695,521 (GRCm39) |
V297A |
probably damaging |
Het |
Vmn2r70 |
T |
A |
7: 85,207,969 (GRCm39) |
Q836L |
probably benign |
Het |
Zfp473 |
A |
G |
7: 44,382,365 (GRCm39) |
V655A |
probably benign |
Het |
Zic5 |
A |
G |
14: 122,696,897 (GRCm39) |
S573P |
unknown |
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 |
|
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 |
|
Predicted Primers |
PCR Primer
(F):5'- GAGTGTGCCCACTACCAGAAACAG -3'
(R):5'- AGCTCCAGGTGTAGGACATTACTCC -3'
Sequencing Primer
(F):5'- TGTACCAGTTCAGGATGCAC -3'
(R):5'- TAGGACATTACTCCAGGGGTC -3'
|
Posted On |
2014-03-17 |