Incidental Mutation 'R5372:Catsperg1'
ID |
428787 |
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 |
042948-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.068)
|
Stock # |
R5372 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
7 |
Chromosomal Location |
28880746-28913460 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 28910137 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Valine
at position 68
(D68V)
|
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
AA Change: D68V
PolyPhen 2
Score 0.081 (Sensitivity: 0.93; Specificity: 0.85)
|
SMART Domains |
Protein: ENSMUSP00000045233 Gene: ENSMUSG00000049676 AA Change: D68V
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
AA Change: D68V
PolyPhen 2
Score 0.081 (Sensitivity: 0.93; Specificity: 0.85)
|
SMART Domains |
Protein: ENSMUSP00000131827 Gene: ENSMUSG00000049676 AA Change: D68V
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 |
noncoding transcript
Transcript: ENSMUST00000167064
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000166419
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000166654
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000169143
AA Change: D68V
PolyPhen 2
Score 0.081 (Sensitivity: 0.93; Specificity: 0.85)
|
SMART Domains |
Protein: ENSMUSP00000129837 Gene: ENSMUSG00000049676 AA Change: D68V
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: ENSMUST00000172226
|
Meta Mutation Damage Score |
0.0898 |
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 95.2%
|
Validation Efficiency |
96% (89/93) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 79 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca4 |
T |
A |
3: 121,848,988 (GRCm39) |
D108E |
probably damaging |
Het |
Abhd12b |
A |
G |
12: 70,227,800 (GRCm39) |
D194G |
probably damaging |
Het |
Adck5 |
A |
G |
15: 76,478,707 (GRCm39) |
|
probably benign |
Het |
Adgrb3 |
C |
T |
1: 25,167,940 (GRCm39) |
V792I |
probably benign |
Het |
Anxa8 |
G |
A |
14: 33,815,868 (GRCm39) |
V174M |
probably damaging |
Het |
Apol9b |
A |
T |
15: 77,619,920 (GRCm39) |
R239W |
probably benign |
Het |
Arhgap26 |
A |
G |
18: 38,775,509 (GRCm39) |
|
noncoding transcript |
Het |
Atrnl1 |
A |
G |
19: 57,743,968 (GRCm39) |
Y1190C |
probably benign |
Het |
Brinp3 |
T |
G |
1: 146,707,464 (GRCm39) |
L376R |
probably damaging |
Het |
Btbd2 |
A |
T |
10: 80,484,475 (GRCm39) |
M132K |
probably damaging |
Het |
C130073F10Rik |
A |
T |
4: 101,747,684 (GRCm39) |
I115K |
probably damaging |
Het |
C1ra |
T |
A |
6: 124,498,584 (GRCm39) |
Y426N |
probably damaging |
Het |
Cacna1b |
A |
T |
2: 24,623,971 (GRCm39) |
V203E |
probably damaging |
Het |
Ccdc158 |
A |
C |
5: 92,780,419 (GRCm39) |
S885A |
possibly damaging |
Het |
Cdc42bpa |
T |
C |
1: 179,892,544 (GRCm39) |
V236A |
probably damaging |
Het |
Cdca7 |
A |
T |
2: 72,312,793 (GRCm39) |
E176D |
probably damaging |
Het |
Cdk17 |
A |
G |
10: 93,061,901 (GRCm39) |
D211G |
probably benign |
Het |
Clca3a2 |
A |
C |
3: 144,503,286 (GRCm39) |
M888R |
probably benign |
Het |
Clcn7 |
T |
A |
17: 25,376,153 (GRCm39) |
M568K |
possibly damaging |
Het |
Clip1 |
G |
T |
5: 123,768,303 (GRCm39) |
N811K |
probably benign |
Het |
Col12a1 |
T |
A |
9: 79,585,648 (GRCm39) |
Y1243F |
probably damaging |
Het |
Dctn1 |
T |
A |
6: 83,167,192 (GRCm39) |
D315E |
probably damaging |
Het |
Dgcr2 |
T |
C |
16: 17,690,508 (GRCm39) |
T41A |
probably benign |
Het |
Dync2h1 |
G |
A |
9: 7,176,962 (GRCm39) |
|
probably benign |
Het |
Ep300 |
A |
G |
15: 81,521,031 (GRCm39) |
I1264V |
unknown |
Het |
Fam167b |
A |
T |
4: 129,472,092 (GRCm39) |
L26Q |
possibly damaging |
Het |
Fam178b |
T |
A |
1: 36,603,929 (GRCm39) |
I457F |
possibly damaging |
Het |
Fgd4 |
A |
T |
16: 16,302,155 (GRCm39) |
N133K |
probably benign |
Het |
Fndc1 |
C |
G |
17: 7,984,042 (GRCm39) |
V1295L |
unknown |
Het |
Gad2 |
A |
T |
2: 22,580,255 (GRCm39) |
D552V |
possibly damaging |
Het |
Hars2 |
T |
C |
18: 36,923,534 (GRCm39) |
Y361H |
possibly damaging |
Het |
Heca |
T |
A |
10: 17,790,887 (GRCm39) |
S390C |
probably damaging |
Het |
Hephl1 |
G |
T |
9: 15,009,195 (GRCm39) |
Y132* |
probably null |
Het |
Hormad1 |
T |
A |
3: 95,483,735 (GRCm39) |
D182E |
probably damaging |
Het |
Ifna15 |
G |
A |
4: 88,476,338 (GRCm39) |
P49S |
probably damaging |
Het |
Khsrp |
T |
C |
17: 57,331,292 (GRCm39) |
T429A |
possibly damaging |
Het |
Magi2 |
A |
G |
5: 20,907,108 (GRCm39) |
Q1094R |
possibly damaging |
Het |
Map3k11 |
T |
A |
19: 5,740,990 (GRCm39) |
I239K |
probably damaging |
Het |
Mtus2 |
A |
G |
5: 148,250,222 (GRCm39) |
T1319A |
probably damaging |
Het |
Nup54 |
A |
G |
5: 92,565,716 (GRCm39) |
I406T |
probably damaging |
Het |
Nxpe2 |
T |
C |
9: 48,250,819 (GRCm39) |
T43A |
possibly damaging |
Het |
Nynrin |
A |
G |
14: 56,105,948 (GRCm39) |
E889G |
probably benign |
Het |
Opa1 |
A |
C |
16: 29,404,937 (GRCm39) |
H45P |
probably benign |
Het |
Or14c44 |
T |
A |
7: 86,062,176 (GRCm39) |
I202N |
possibly damaging |
Het |
Or4f60 |
A |
G |
2: 111,902,454 (GRCm39) |
I158T |
probably benign |
Het |
Or56b2j |
A |
G |
7: 104,353,002 (GRCm39) |
D76G |
probably benign |
Het |
Or8a1b |
T |
C |
9: 37,623,234 (GRCm39) |
M114V |
possibly damaging |
Het |
Otx1 |
C |
A |
11: 21,947,037 (GRCm39) |
A91S |
probably damaging |
Het |
Papola |
A |
G |
12: 105,793,309 (GRCm39) |
K543R |
probably benign |
Het |
Plcxd3 |
G |
A |
15: 4,604,270 (GRCm39) |
V293I |
probably benign |
Het |
Polr2g |
T |
C |
19: 8,774,667 (GRCm39) |
Y72C |
probably damaging |
Het |
Ppp1r21 |
A |
G |
17: 88,858,103 (GRCm39) |
K205E |
probably benign |
Het |
Ptpre |
A |
G |
7: 135,255,669 (GRCm39) |
K53E |
possibly damaging |
Het |
Rasal3 |
T |
C |
17: 32,610,318 (GRCm39) |
K990E |
probably benign |
Het |
Rgs3 |
A |
T |
4: 62,570,934 (GRCm39) |
|
probably benign |
Het |
Rhd |
A |
G |
4: 134,611,943 (GRCm39) |
T254A |
possibly damaging |
Het |
Rufy4 |
T |
C |
1: 74,186,822 (GRCm39) |
C537R |
probably damaging |
Het |
Scube3 |
G |
T |
17: 28,371,456 (GRCm39) |
C57F |
probably damaging |
Het |
Sh2d5 |
A |
G |
4: 137,982,010 (GRCm39) |
D57G |
possibly damaging |
Het |
Slc12a6 |
T |
A |
2: 112,177,705 (GRCm39) |
L608* |
probably null |
Het |
Slk |
A |
T |
19: 47,613,832 (GRCm39) |
N896I |
probably damaging |
Het |
Smc6 |
A |
G |
12: 11,332,431 (GRCm39) |
D211G |
probably damaging |
Het |
Sox6 |
A |
T |
7: 115,149,386 (GRCm39) |
Y371* |
probably null |
Het |
Srcap |
G |
A |
7: 127,156,785 (GRCm39) |
|
probably null |
Het |
Stard5 |
T |
A |
7: 83,282,428 (GRCm39) |
D80E |
probably damaging |
Het |
Supv3l1 |
C |
T |
10: 62,268,136 (GRCm39) |
V570M |
probably damaging |
Het |
Syt7 |
G |
T |
19: 10,403,985 (GRCm39) |
V180L |
probably damaging |
Het |
Tacc2 |
T |
A |
7: 130,224,990 (GRCm39) |
H558Q |
probably benign |
Het |
Tas2r120 |
T |
A |
6: 132,634,446 (GRCm39) |
M176K |
possibly damaging |
Het |
Tmem135 |
A |
T |
7: 88,814,382 (GRCm39) |
|
probably null |
Het |
Trim35 |
T |
C |
14: 66,534,715 (GRCm39) |
V66A |
possibly damaging |
Het |
Tspan12 |
A |
G |
6: 21,772,698 (GRCm39) |
S284P |
probably benign |
Het |
Ttll3 |
A |
T |
6: 113,378,382 (GRCm39) |
K257* |
probably null |
Het |
Uggt1 |
C |
A |
1: 36,283,141 (GRCm39) |
|
probably benign |
Het |
Vmn2r7 |
T |
A |
3: 64,623,745 (GRCm39) |
I283F |
probably damaging |
Het |
Wdfy2 |
T |
G |
14: 63,192,334 (GRCm39) |
H363Q |
probably damaging |
Het |
Wdr4 |
T |
A |
17: 31,729,554 (GRCm39) |
K95N |
probably damaging |
Het |
Zfp141 |
T |
C |
7: 42,126,620 (GRCm39) |
N91S |
possibly damaging |
Het |
Zfp383 |
C |
T |
7: 29,614,695 (GRCm39) |
R317* |
probably null |
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 |
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'- CCCGGACAGGAAAAGTTGATTTG -3'
(R):5'- TCTAGCTACATGGTGTCCCG -3'
Sequencing Primer
(F):5'- TTTGCAAGTAGTAAGGAAAGCTC -3'
(R):5'- TACATGGTGTCCCGGCCAG -3'
|
Posted On |
2016-09-06 |