Incidental Mutation 'R9557:Catsperg1'
ID |
720799 |
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 |
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.078)
|
Stock # |
R9557 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
7 |
Chromosomal Location |
28880746-28913460 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 28904223 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Glycine
at position 266
(D266G)
|
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: D266G
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
SMART Domains |
Protein: ENSMUSP00000045233 Gene: ENSMUSG00000049676 AA Change: D266G
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 |
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 |
probably damaging
Transcript: ENSMUST00000169143
AA Change: D266G
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000129837 Gene: ENSMUSG00000049676 AA Change: D266G
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 |
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 99.0%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 66 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aadacl2fm2 |
T |
A |
3: 59,659,160 (GRCm39) |
N204K |
possibly damaging |
Het |
Aadacl2fm3 |
T |
G |
3: 59,784,654 (GRCm39) |
F376V |
possibly damaging |
Het |
Abca5 |
A |
G |
11: 110,197,109 (GRCm39) |
L523P |
probably damaging |
Het |
Adcy5 |
T |
C |
16: 35,091,327 (GRCm39) |
V590A |
probably damaging |
Het |
Alg1 |
A |
T |
16: 5,057,820 (GRCm39) |
D238V |
probably damaging |
Het |
Ankrd55 |
C |
A |
13: 112,485,347 (GRCm39) |
P187H |
probably damaging |
Het |
Aox4 |
G |
T |
1: 58,285,095 (GRCm39) |
V616F |
probably benign |
Het |
Apc |
C |
A |
18: 34,451,412 (GRCm39) |
H2769Q |
probably damaging |
Het |
Bach1 |
C |
G |
16: 87,516,603 (GRCm39) |
S381R |
probably benign |
Het |
C2cd2l |
G |
A |
9: 44,231,127 (GRCm39) |
A20V |
probably benign |
Het |
Ces4a |
A |
G |
8: 105,869,527 (GRCm39) |
S233G |
possibly damaging |
Het |
Comp |
T |
A |
8: 70,829,854 (GRCm39) |
D359E |
probably benign |
Het |
Cyp2b13 |
A |
C |
7: 25,780,123 (GRCm39) |
N91T |
probably benign |
Het |
Dhx9 |
A |
C |
1: 153,333,292 (GRCm39) |
M1151R |
probably benign |
Het |
Dync2i2 |
G |
A |
2: 29,922,534 (GRCm39) |
A366V |
possibly damaging |
Het |
E2f5 |
G |
T |
3: 14,653,311 (GRCm39) |
L142F |
probably benign |
Het |
Egflam |
G |
T |
15: 7,241,656 (GRCm39) |
N917K |
probably damaging |
Het |
Ercc6l2 |
C |
T |
13: 63,989,936 (GRCm39) |
R254C |
probably damaging |
Het |
Erh |
G |
A |
12: 80,689,571 (GRCm39) |
P18S |
probably benign |
Het |
Fam110b |
T |
C |
4: 5,799,064 (GRCm39) |
S161P |
probably damaging |
Het |
Fam210a |
TAAAATGTTCCAAA |
TAAA |
18: 68,408,848 (GRCm39) |
|
probably null |
Het |
Fbn1 |
T |
C |
2: 125,180,458 (GRCm39) |
I1775V |
probably damaging |
Het |
Fry |
C |
A |
5: 150,389,781 (GRCm39) |
Q137K |
|
Het |
Gm4787 |
A |
T |
12: 81,426,074 (GRCm39) |
L28* |
probably null |
Het |
Gpr179 |
A |
G |
11: 97,235,029 (GRCm39) |
F434L |
probably damaging |
Het |
Grik2 |
T |
C |
10: 49,404,105 (GRCm39) |
Y252C |
probably damaging |
Het |
H1f0 |
C |
T |
15: 78,912,947 (GRCm39) |
P9L |
probably damaging |
Het |
Hectd4 |
A |
G |
5: 121,459,617 (GRCm39) |
T829A |
possibly damaging |
Het |
Ing4 |
A |
G |
6: 125,025,354 (GRCm39) |
E245G |
probably benign |
Het |
Lgr4 |
C |
T |
2: 109,827,084 (GRCm39) |
A196V |
probably damaging |
Het |
Lrrc51 |
T |
A |
7: 101,562,329 (GRCm39) |
K176N |
probably benign |
Het |
Lrrc9 |
T |
A |
12: 72,532,981 (GRCm39) |
M950K |
probably benign |
Het |
Lrrd1 |
A |
T |
5: 3,901,432 (GRCm39) |
D579V |
probably damaging |
Het |
Magi3 |
C |
T |
3: 103,922,473 (GRCm39) |
A1415T |
probably benign |
Het |
Magi3 |
A |
C |
3: 103,924,933 (GRCm39) |
I1072S |
probably damaging |
Het |
Mast1 |
G |
A |
8: 85,657,474 (GRCm39) |
T101I |
probably damaging |
Het |
Mccc1 |
A |
T |
3: 36,049,976 (GRCm39) |
V72E |
probably damaging |
Het |
Mcm5 |
C |
T |
8: 75,844,168 (GRCm39) |
S313F |
probably benign |
Het |
Megf8 |
A |
T |
7: 25,058,511 (GRCm39) |
Q2169L |
possibly damaging |
Het |
Mllt6 |
A |
G |
11: 97,564,310 (GRCm39) |
D342G |
probably benign |
Het |
Mycbp2 |
T |
A |
14: 103,372,697 (GRCm39) |
T4050S |
probably benign |
Het |
Nbeal1 |
A |
G |
1: 60,274,509 (GRCm39) |
T307A |
probably benign |
Het |
Or11g27 |
A |
G |
14: 50,771,552 (GRCm39) |
T228A |
probably benign |
Het |
Or52d3 |
T |
C |
7: 104,229,768 (GRCm39) |
I305T |
probably damaging |
Het |
Plat |
T |
C |
8: 23,262,669 (GRCm39) |
F125L |
probably benign |
Het |
Ppm1b |
T |
A |
17: 85,301,501 (GRCm39) |
M127K |
probably benign |
Het |
Ppp4r1 |
C |
A |
17: 66,110,258 (GRCm39) |
D52E |
probably benign |
Het |
Rasgrp3 |
T |
G |
17: 75,807,139 (GRCm39) |
I201S |
probably damaging |
Het |
Rfpl4b |
T |
A |
10: 38,696,870 (GRCm39) |
M244L |
probably benign |
Het |
Rhbdl3 |
A |
T |
11: 80,244,277 (GRCm39) |
H328L |
probably benign |
Het |
Rsad2 |
T |
A |
12: 26,495,521 (GRCm39) |
I325F |
probably damaging |
Het |
Shank2 |
T |
C |
7: 143,963,847 (GRCm39) |
V485A |
probably benign |
Het |
Slc6a5 |
A |
G |
7: 49,561,474 (GRCm39) |
N2S |
probably benign |
Het |
Sox4 |
G |
T |
13: 29,136,913 (GRCm39) |
A31E |
probably damaging |
Het |
Suv39h2 |
A |
T |
2: 3,475,451 (GRCm39) |
C2S |
|
Het |
Tet2 |
A |
G |
3: 133,191,566 (GRCm39) |
I956T |
probably benign |
Het |
Topaz1 |
A |
G |
9: 122,578,530 (GRCm39) |
D480G |
possibly damaging |
Het |
Ttn |
C |
T |
2: 76,715,357 (GRCm39) |
E7912K |
unknown |
Het |
Ugt1a6b |
G |
T |
1: 88,034,820 (GRCm39) |
G53* |
probably null |
Het |
Vmn1r173 |
T |
C |
7: 23,402,209 (GRCm39) |
V148A |
probably damaging |
Het |
Vnn1 |
G |
A |
10: 23,776,723 (GRCm39) |
C358Y |
probably damaging |
Het |
Wdr89 |
A |
G |
12: 75,679,666 (GRCm39) |
V196A |
probably damaging |
Het |
Wfdc6a |
T |
A |
2: 164,425,758 (GRCm39) |
D71V |
possibly damaging |
Het |
Zc3h3 |
T |
C |
15: 75,711,145 (GRCm39) |
K439E |
probably damaging |
Het |
Zfp367 |
T |
C |
13: 64,300,586 (GRCm39) |
H73R |
probably damaging |
Het |
Zfp955a |
G |
A |
17: 33,461,107 (GRCm39) |
R342* |
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 |
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 |
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'- ATGCCCCAAGAAGTGTCTTTA -3'
(R):5'- AGATGAGAACGTTGGCTGTG -3'
Sequencing Primer
(F):5'- GCTGTACACTGGCATATC -3'
(R):5'- AACGTTGGCTGTGGCAGAG -3'
|
Posted On |
2022-08-09 |