Incidental Mutation 'R5217:Catsperg1'
ID |
403539 |
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 |
042790-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.078)
|
Stock # |
R5217 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
7 |
Chromosomal Location |
28880746-28913460 bp(-) (GRCm39) |
Type of Mutation |
nonsense |
DNA Base Change (assembly) |
A to T
at 28889723 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Leucine to Stop codon
at position 793
(L793*)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000129837
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000047846]
[ENSMUST00000163782]
[ENSMUST00000164653]
[ENSMUST00000169143]
|
AlphaFold |
E9Q355 |
Predicted Effect |
probably null
Transcript: ENSMUST00000047846
AA Change: L740*
|
SMART Domains |
Protein: ENSMUSP00000045233 Gene: ENSMUSG00000049676 AA Change: L740*
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 |
noncoding transcript
Transcript: ENSMUST00000085819
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000163445
|
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: ENSMUST00000166419
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000166654
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000172226
|
Predicted Effect |
probably null
Transcript: ENSMUST00000169143
AA Change: L793*
|
SMART Domains |
Protein: ENSMUSP00000129837 Gene: ENSMUSG00000049676 AA Change: L793*
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: ENSMUST00000171102
|
Meta Mutation Damage Score |
0.9755 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.8%
- 20x: 93.7%
|
Validation Efficiency |
100% (80/80) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 73 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4933428M09Rik |
G |
T |
X: 138,080,282 (GRCm39) |
G16* |
probably null |
Het |
Abhd11 |
T |
A |
5: 135,040,398 (GRCm39) |
W144R |
probably damaging |
Het |
Abhd2 |
A |
G |
7: 78,973,378 (GRCm39) |
E119G |
probably benign |
Het |
Acbd3 |
A |
G |
1: 180,553,938 (GRCm39) |
Y91C |
probably benign |
Het |
Aox4 |
C |
A |
1: 58,285,400 (GRCm39) |
S628* |
probably null |
Het |
Bahcc1 |
T |
A |
11: 120,165,285 (GRCm39) |
Y905* |
probably null |
Het |
Baiap2l2 |
T |
G |
15: 79,154,687 (GRCm39) |
S211R |
probably benign |
Het |
Cab39l |
T |
A |
14: 59,764,258 (GRCm39) |
Y206* |
probably null |
Het |
Cacna1i |
A |
T |
15: 80,275,041 (GRCm39) |
T1830S |
possibly damaging |
Het |
Cdh10 |
G |
T |
15: 18,966,108 (GRCm39) |
V198F |
probably damaging |
Het |
Cenpk |
A |
T |
13: 104,385,917 (GRCm39) |
I271F |
probably damaging |
Het |
Chchd4 |
A |
T |
6: 91,442,260 (GRCm39) |
C53S |
probably damaging |
Het |
Cluh |
T |
G |
11: 74,550,531 (GRCm39) |
C252W |
probably damaging |
Het |
Cmklr1 |
G |
T |
5: 113,752,710 (GRCm39) |
A97E |
probably damaging |
Het |
Coil |
C |
A |
11: 88,871,987 (GRCm39) |
A116D |
possibly damaging |
Het |
Eif1ad9 |
A |
G |
12: 88,296,196 (GRCm39) |
H58R |
probably benign |
Het |
F830045P16Rik |
C |
A |
2: 129,305,493 (GRCm39) |
V294F |
probably damaging |
Het |
Fgd6 |
T |
A |
10: 93,969,939 (GRCm39) |
M1196K |
possibly damaging |
Het |
Gabra5 |
G |
A |
7: 57,140,604 (GRCm39) |
S31L |
probably benign |
Het |
Gm7135 |
A |
T |
1: 97,362,790 (GRCm39) |
|
noncoding transcript |
Het |
Gon4l |
C |
A |
3: 88,794,882 (GRCm39) |
T695K |
probably damaging |
Het |
Hectd4 |
A |
G |
5: 121,491,614 (GRCm39) |
H3684R |
possibly damaging |
Het |
Ica1l |
T |
A |
1: 60,054,917 (GRCm39) |
M105L |
probably benign |
Het |
Ift70a1 |
A |
G |
2: 75,811,147 (GRCm39) |
L312P |
probably damaging |
Het |
Igkv8-24 |
A |
T |
6: 70,194,386 (GRCm39) |
V7D |
probably damaging |
Het |
Klf10 |
G |
A |
15: 38,296,331 (GRCm39) |
R420W |
probably damaging |
Het |
Klrc2 |
C |
A |
6: 129,633,843 (GRCm39) |
W177C |
probably damaging |
Het |
Krit1 |
T |
A |
5: 3,856,451 (GRCm39) |
C15* |
probably null |
Het |
Lamc1 |
C |
A |
1: 153,103,442 (GRCm39) |
V1375L |
probably damaging |
Het |
Lrrc37a |
C |
T |
11: 103,347,780 (GRCm39) |
V2972I |
unknown |
Het |
Mapkapk5 |
T |
C |
5: 121,672,492 (GRCm39) |
D13G |
probably damaging |
Het |
Mcph1 |
T |
A |
8: 18,838,489 (GRCm39) |
L804I |
probably damaging |
Het |
Mdn1 |
C |
T |
4: 32,723,690 (GRCm39) |
P2542L |
probably damaging |
Het |
Mrto4 |
A |
G |
4: 139,075,770 (GRCm39) |
Y119H |
probably benign |
Het |
Nbeal2 |
G |
T |
9: 110,461,158 (GRCm39) |
A1635E |
possibly damaging |
Het |
Ndc1 |
T |
C |
4: 107,246,773 (GRCm39) |
S399P |
probably benign |
Het |
Ndufv2 |
A |
G |
17: 66,394,424 (GRCm39) |
I147T |
probably damaging |
Het |
Neb |
C |
A |
2: 52,052,142 (GRCm39) |
E382* |
probably null |
Het |
Nhsl3 |
C |
T |
4: 129,116,478 (GRCm39) |
E729K |
probably damaging |
Het |
Nme8 |
T |
A |
13: 19,880,861 (GRCm39) |
I32F |
probably damaging |
Het |
Obox5 |
T |
A |
7: 15,491,793 (GRCm39) |
|
probably null |
Het |
Or8g23 |
A |
G |
9: 38,971,065 (GRCm39) |
V299A |
probably benign |
Het |
Pcdhb19 |
A |
T |
18: 37,630,939 (GRCm39) |
M245L |
probably benign |
Het |
Pex5l |
A |
T |
3: 33,061,477 (GRCm39) |
|
probably null |
Het |
Phrf1 |
T |
G |
7: 140,840,616 (GRCm39) |
D1270E |
probably damaging |
Het |
Pik3r5 |
A |
G |
11: 68,382,790 (GRCm39) |
K277E |
possibly damaging |
Het |
Ppan |
T |
C |
9: 20,802,221 (GRCm39) |
V204A |
possibly damaging |
Het |
Ppp1r9a |
A |
T |
6: 5,115,367 (GRCm39) |
N830I |
probably damaging |
Het |
Pxn |
C |
G |
5: 115,682,974 (GRCm39) |
A92G |
probably benign |
Het |
Qsox1 |
A |
G |
1: 155,666,742 (GRCm39) |
V249A |
probably benign |
Het |
Rgl3 |
T |
A |
9: 21,898,944 (GRCm39) |
*88C |
probably null |
Het |
Rps6kc1 |
A |
T |
1: 190,515,802 (GRCm39) |
W975R |
probably damaging |
Het |
Sash1 |
G |
T |
10: 8,656,368 (GRCm39) |
A208D |
possibly damaging |
Het |
Simc1 |
A |
T |
13: 54,687,709 (GRCm39) |
|
probably benign |
Het |
Sox7 |
T |
C |
14: 64,185,449 (GRCm39) |
Y162H |
probably damaging |
Het |
Srp72 |
T |
A |
5: 77,128,375 (GRCm39) |
L171H |
probably damaging |
Het |
Stab1 |
T |
A |
14: 30,881,476 (GRCm39) |
Y577F |
probably benign |
Het |
Stam2 |
G |
A |
2: 52,626,305 (GRCm39) |
|
probably benign |
Het |
Tagln |
T |
C |
9: 45,842,177 (GRCm39) |
T139A |
probably benign |
Het |
Thbs3 |
T |
C |
3: 89,130,471 (GRCm39) |
|
probably null |
Het |
Tmem216 |
G |
A |
19: 10,529,155 (GRCm39) |
T131M |
possibly damaging |
Het |
Tmprss11c |
A |
G |
5: 86,404,249 (GRCm39) |
V142A |
probably benign |
Het |
Trarg1 |
C |
G |
11: 76,585,102 (GRCm39) |
A164G |
possibly damaging |
Het |
Ttn |
A |
T |
2: 76,641,587 (GRCm39) |
L5176Q |
possibly damaging |
Het |
Ubtf |
T |
C |
11: 102,199,128 (GRCm39) |
M511V |
probably null |
Het |
Ugt2b36 |
A |
T |
5: 87,214,114 (GRCm39) |
V510E |
probably damaging |
Het |
Vars2 |
G |
C |
17: 35,969,041 (GRCm39) |
P887A |
probably damaging |
Het |
Vmn2r80 |
A |
G |
10: 79,004,980 (GRCm39) |
M206V |
possibly damaging |
Het |
Zbtb5 |
A |
G |
4: 44,993,990 (GRCm39) |
F465L |
probably benign |
Het |
Zfp119a |
G |
A |
17: 56,172,425 (GRCm39) |
Q473* |
probably null |
Het |
Zfp607a |
T |
G |
7: 27,577,269 (GRCm39) |
I113R |
probably damaging |
Het |
Zfp998 |
A |
T |
13: 66,581,787 (GRCm39) |
L28H |
probably damaging |
Het |
Zmym6 |
C |
A |
4: 126,999,167 (GRCm39) |
N450K |
possibly 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 |
|
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'- TGGATAACTGGGACTCAGAGTG -3'
(R):5'- AACTGGTTCACCTTCACTGTGG -3'
Sequencing Primer
(F):5'- GGGGTAAGAAGATCTGTGGATTTCC -3'
(R):5'- GGTCTTATTGTCACATCAGGATACC -3'
|
Posted On |
2016-07-22 |