Incidental Mutation 'R8684:Catsperg1'
ID |
661943 |
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 |
068539-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.078)
|
Stock # |
R8684 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
7 |
Chromosomal Location |
28880746-28913460 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 28897825 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Methionine
at position 181
(V181M)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000067388
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000047846]
[ENSMUST00000069861]
[ENSMUST00000163782]
[ENSMUST00000164653]
[ENSMUST00000169143]
|
AlphaFold |
E9Q355 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000047846
AA Change: V383M
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000045233 Gene: ENSMUSG00000049676 AA Change: V383M
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 damaging
Transcript: ENSMUST00000069861
AA Change: V181M
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000067388 Gene: ENSMUSG00000049676 AA Change: V181M
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: V383M
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000129837 Gene: ENSMUSG00000049676 AA Change: V383M
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: 99.5%
- 20x: 98.3%
|
Validation Efficiency |
100% (47/47) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 47 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4933421I07Rik |
C |
T |
7: 42,097,413 (GRCm39) |
R27H |
probably benign |
Het |
Abca2 |
T |
A |
2: 25,336,508 (GRCm39) |
L2229Q |
possibly damaging |
Het |
Adamts4 |
A |
T |
1: 171,086,541 (GRCm39) |
T778S |
probably damaging |
Het |
AY358078 |
T |
G |
14: 52,059,597 (GRCm39) |
Y311* |
probably null |
Het |
Cdcp3 |
C |
A |
7: 130,837,688 (GRCm39) |
S528* |
probably null |
Het |
Cep70 |
A |
G |
9: 99,145,842 (GRCm39) |
K170E |
possibly damaging |
Het |
Coro1b |
T |
A |
19: 4,199,527 (GRCm39) |
V62E |
probably damaging |
Het |
Dnajc11 |
T |
C |
4: 152,065,183 (GRCm39) |
*560Q |
probably null |
Het |
Eci3 |
T |
C |
13: 35,143,874 (GRCm39) |
N84D |
probably damaging |
Het |
F5 |
T |
A |
1: 164,045,111 (GRCm39) |
V2133E |
probably benign |
Het |
Fancl |
C |
A |
11: 26,420,826 (GRCm39) |
P116Q |
|
Het |
Gm10801 |
ATTTTCAGTTTTCTTGCCATATTCCACGTCCTGCACTGGACATTTCTAAATTTTCCACCTTTTTCAGTTTTC |
ATTTTCAGTTTTC |
2: 98,492,669 (GRCm39) |
|
probably null |
Het |
Golgb1 |
C |
T |
16: 36,734,764 (GRCm39) |
T1378M |
possibly damaging |
Het |
Hdac5 |
T |
C |
11: 102,096,147 (GRCm39) |
N342S |
probably benign |
Het |
Herc3 |
A |
G |
6: 58,864,561 (GRCm39) |
K732E |
probably damaging |
Het |
Lce1e |
A |
T |
3: 92,615,269 (GRCm39) |
I26N |
unknown |
Het |
Lingo1 |
T |
C |
9: 56,528,106 (GRCm39) |
Y167C |
probably damaging |
Het |
Loxl3 |
A |
G |
6: 83,012,566 (GRCm39) |
E35G |
probably benign |
Het |
Mmp13 |
A |
G |
9: 7,282,089 (GRCm39) |
M464V |
possibly damaging |
Het |
Mov10 |
T |
C |
3: 104,711,690 (GRCm39) |
H199R |
probably benign |
Het |
Nbas |
A |
G |
12: 13,386,368 (GRCm39) |
T765A |
probably damaging |
Het |
Nlgn3 |
C |
T |
X: 100,363,425 (GRCm39) |
R679* |
probably null |
Het |
Nrp1 |
C |
T |
8: 129,085,885 (GRCm39) |
|
probably benign |
Het |
Nup88 |
C |
A |
11: 70,860,687 (GRCm39) |
V31L |
probably benign |
Het |
Or2r11 |
T |
C |
6: 42,437,827 (GRCm39) |
N42S |
probably damaging |
Het |
Or5d39 |
T |
C |
2: 87,979,872 (GRCm39) |
T164A |
probably benign |
Het |
Or7a36 |
A |
T |
10: 78,820,212 (GRCm39) |
D196V |
probably benign |
Het |
Pah |
A |
G |
10: 87,414,827 (GRCm39) |
N393S |
probably benign |
Het |
Peli3 |
T |
C |
19: 4,985,022 (GRCm39) |
Y163C |
probably damaging |
Het |
Rasgef1b |
A |
T |
5: 99,524,994 (GRCm39) |
M55K |
probably benign |
Het |
Ror2 |
T |
C |
13: 53,264,302 (GRCm39) |
D930G |
possibly damaging |
Het |
Rpgrip1l |
T |
G |
8: 92,000,329 (GRCm39) |
M537L |
probably benign |
Het |
Ryr2 |
A |
T |
13: 11,702,875 (GRCm39) |
V2871E |
probably damaging |
Het |
Smco1 |
A |
T |
16: 32,092,841 (GRCm39) |
N171Y |
probably damaging |
Het |
Sorbs1 |
G |
C |
19: 40,365,244 (GRCm39) |
R180G |
probably benign |
Het |
Sox2 |
T |
A |
3: 34,705,016 (GRCm39) |
L151Q |
probably benign |
Het |
Spink5 |
A |
G |
18: 44,143,305 (GRCm39) |
E754G |
probably benign |
Het |
Sulf1 |
A |
T |
1: 12,867,004 (GRCm39) |
M63L |
probably benign |
Het |
Traf2 |
A |
G |
2: 25,410,458 (GRCm39) |
M390T |
probably damaging |
Het |
Trav13d-4 |
T |
C |
14: 53,310,266 (GRCm39) |
V16A |
probably damaging |
Het |
Trmo |
C |
T |
4: 46,386,251 (GRCm39) |
W84* |
probably null |
Het |
Trmo |
T |
C |
4: 46,386,253 (GRCm39) |
|
probably null |
Het |
Ttyh1 |
T |
A |
7: 4,133,791 (GRCm39) |
|
probably benign |
Het |
Ush2a |
A |
G |
1: 188,643,220 (GRCm39) |
N4194S |
possibly damaging |
Het |
Vmn2r45 |
T |
C |
7: 8,486,511 (GRCm39) |
Y259C |
probably damaging |
Het |
Vmn2r94 |
T |
A |
17: 18,497,912 (GRCm39) |
|
probably benign |
Het |
Zfp101 |
A |
G |
17: 33,600,977 (GRCm39) |
S260P |
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 |
|
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 |
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'- ATGTAGCCCAGTCGATGCTG -3'
(R):5'- TGGCCTGTATTGGTCACACC -3'
Sequencing Primer
(F):5'- AGTCGATGCTGCAGTTTTTACC -3'
(R):5'- TGGTCACACCTCCATATCTAAAAAGG -3'
|
Posted On |
2021-03-08 |