Incidental Mutation 'R8821:Catsperg1'
| ID |
686587 |
| 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 |
068654-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.078)
|
| Stock # |
R8821 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
28880746-28913460 bp(-) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
A to T
at 28904361 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| 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
|
| SMART Domains |
Protein: ENSMUSP00000045233
Gene: ENSMUSG00000049676
| 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 benign
Transcript: ENSMUST00000169143
|
| SMART Domains |
Protein: ENSMUSP00000129837
Gene: ENSMUSG00000049676
| 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 |
|
| Meta Mutation Damage Score |
0.0846 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.1%
|
| Validation Efficiency |
100% (74/74) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 76 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A230072I06Rik |
A |
T |
8: 12,329,688 (GRCm39) |
I48L |
unknown |
Het |
| Abca8a |
A |
T |
11: 109,949,362 (GRCm39) |
I927K |
probably damaging |
Het |
| Abcc3 |
A |
C |
11: 94,241,787 (GRCm39) |
C1415G |
probably damaging |
Het |
| Abcf3 |
C |
T |
16: 20,369,214 (GRCm39) |
R205C |
probably damaging |
Het |
| Aldh3a1 |
A |
G |
11: 61,107,142 (GRCm39) |
Y282C |
probably damaging |
Het |
| Alyref |
CCCGCGCGGCGGCCTGCACTGCGCCGCCGCGGCCGCCCTGGGAGCCGGCCCTGCCGCG |
CCCGCG |
11: 120,489,023 (GRCm39) |
|
probably null |
Het |
| Arfgef3 |
A |
G |
10: 18,528,491 (GRCm39) |
S299P |
possibly damaging |
Het |
| Asic2 |
A |
T |
11: 81,858,726 (GRCm39) |
N95K |
probably damaging |
Het |
| Atp2c2 |
A |
G |
8: 120,476,033 (GRCm39) |
|
probably null |
Het |
| Btbd18 |
A |
G |
2: 84,497,601 (GRCm39) |
D413G |
probably damaging |
Het |
| C8b |
A |
G |
4: 104,647,874 (GRCm39) |
Y355C |
probably damaging |
Het |
| Carm1 |
A |
G |
9: 21,491,663 (GRCm39) |
E244G |
probably damaging |
Het |
| Castor2 |
T |
A |
5: 134,164,092 (GRCm39) |
V96E |
possibly damaging |
Het |
| Cish |
T |
A |
9: 107,177,671 (GRCm39) |
F116I |
probably damaging |
Het |
| Ckmt1 |
G |
A |
2: 121,191,302 (GRCm39) |
|
probably benign |
Het |
| Clasrp |
C |
T |
7: 19,320,362 (GRCm39) |
R432H |
unknown |
Het |
| Clstn1 |
G |
A |
4: 149,730,780 (GRCm39) |
R837Q |
probably benign |
Het |
| Col27a1 |
A |
G |
4: 63,143,148 (GRCm39) |
T279A |
probably benign |
Het |
| Cox10 |
A |
G |
11: 63,855,306 (GRCm39) |
F325S |
probably damaging |
Het |
| Cpne5 |
T |
C |
17: 29,430,668 (GRCm39) |
I81V |
probably benign |
Het |
| Ctps1 |
A |
T |
4: 120,424,507 (GRCm39) |
S36T |
possibly damaging |
Het |
| Dchs2 |
T |
C |
3: 83,192,670 (GRCm39) |
L1705P |
probably benign |
Het |
| Dcstamp |
A |
G |
15: 39,618,185 (GRCm39) |
H198R |
probably benign |
Het |
| Dhx58 |
T |
A |
11: 100,594,806 (GRCm39) |
K30M |
probably damaging |
Het |
| Dnah1 |
C |
T |
14: 31,018,455 (GRCm39) |
A1392T |
probably benign |
Het |
| Dnah14 |
C |
A |
1: 181,619,569 (GRCm39) |
Y3964* |
probably null |
Het |
| Dnah8 |
T |
C |
17: 31,013,712 (GRCm39) |
S3818P |
probably damaging |
Het |
| Dnmt3b |
T |
A |
2: 153,518,734 (GRCm39) |
N632K |
probably benign |
Het |
| Drc7 |
G |
A |
8: 95,788,845 (GRCm39) |
R301Q |
probably damaging |
Het |
| Dsg1a |
T |
C |
18: 20,453,365 (GRCm39) |
V21A |
probably damaging |
Het |
| Dtd1 |
T |
C |
2: 144,459,261 (GRCm39) |
L95P |
probably benign |
Het |
| Efhb |
A |
T |
17: 53,707,772 (GRCm39) |
|
probably benign |
Het |
| Fam186b |
T |
A |
15: 99,178,733 (GRCm39) |
M198L |
possibly damaging |
Het |
| Fam193a |
A |
G |
5: 34,616,374 (GRCm39) |
T850A |
probably benign |
Het |
| Fan1 |
G |
A |
7: 64,004,249 (GRCm39) |
P739L |
probably damaging |
Het |
| Flii |
A |
T |
11: 60,616,074 (GRCm39) |
N28K |
probably benign |
Het |
| Fmo3 |
T |
C |
1: 162,796,407 (GRCm39) |
Y55C |
probably damaging |
Het |
| Gfi1 |
G |
A |
5: 107,868,138 (GRCm39) |
R377C |
probably damaging |
Het |
| Gm9195 |
C |
T |
14: 72,717,536 (GRCm39) |
E266K |
possibly damaging |
Het |
| Hdac1-ps |
T |
A |
17: 78,799,969 (GRCm39) |
L320Q |
probably damaging |
Het |
| Helz |
A |
T |
11: 107,525,919 (GRCm39) |
M825L |
probably damaging |
Het |
| Hsd3b9 |
A |
T |
3: 98,354,047 (GRCm39) |
W151R |
probably benign |
Het |
| Ift80 |
G |
A |
3: 68,869,583 (GRCm39) |
A236V |
probably damaging |
Het |
| Il1rn |
A |
T |
2: 24,239,505 (GRCm39) |
T134S |
possibly damaging |
Het |
| Imp4 |
T |
C |
1: 34,483,445 (GRCm39) |
M257T |
probably benign |
Het |
| Impdh2 |
T |
C |
9: 108,441,957 (GRCm39) |
L377S |
probably damaging |
Het |
| Kcnrg |
T |
C |
14: 61,844,981 (GRCm39) |
V7A |
possibly damaging |
Het |
| Kdm1b |
C |
A |
13: 47,217,617 (GRCm39) |
L359I |
possibly damaging |
Het |
| Lima1 |
T |
A |
15: 99,704,306 (GRCm39) |
T288S |
probably benign |
Het |
| Lrrc37 |
A |
T |
11: 103,510,470 (GRCm39) |
D499E |
unknown |
Het |
| Lrrc4c |
A |
T |
2: 97,460,040 (GRCm39) |
D222V |
possibly damaging |
Het |
| Mybpc3 |
T |
A |
2: 90,948,524 (GRCm39) |
V4E |
probably null |
Het |
| Ncor1 |
A |
T |
11: 62,260,234 (GRCm39) |
D505E |
probably benign |
Het |
| Nell1 |
A |
G |
7: 50,476,097 (GRCm39) |
S579G |
probably damaging |
Het |
| Npc1 |
T |
A |
18: 12,333,877 (GRCm39) |
M735L |
probably benign |
Het |
| Or1j13 |
G |
A |
2: 36,369,794 (GRCm39) |
T116I |
possibly damaging |
Het |
| Or2at4 |
A |
G |
7: 99,384,893 (GRCm39) |
H181R |
possibly damaging |
Het |
| Or4a73 |
A |
G |
2: 89,420,880 (GRCm39) |
I193T |
probably damaging |
Het |
| Pcdhb12 |
A |
G |
18: 37,570,386 (GRCm39) |
M511V |
probably benign |
Het |
| Peli2 |
G |
A |
14: 48,490,130 (GRCm39) |
E201K |
possibly damaging |
Het |
| Phf3 |
T |
A |
1: 30,860,347 (GRCm39) |
K828* |
probably null |
Het |
| Pih1d1 |
A |
G |
7: 44,806,196 (GRCm39) |
D44G |
possibly damaging |
Het |
| Prag1 |
A |
T |
8: 36,613,891 (GRCm39) |
T1148S |
probably benign |
Het |
| Ptpn18 |
A |
T |
1: 34,511,271 (GRCm39) |
R338W |
probably null |
Het |
| Slc7a6os |
A |
T |
8: 106,937,189 (GRCm39) |
D90E |
probably benign |
Het |
| Sp7 |
T |
A |
15: 102,267,227 (GRCm39) |
H211L |
possibly damaging |
Het |
| Ssh3 |
A |
G |
19: 4,319,053 (GRCm39) |
V19A |
possibly damaging |
Het |
| Tcp11l2 |
A |
G |
10: 84,449,522 (GRCm39) |
I496V |
probably damaging |
Het |
| Tenm3 |
C |
T |
8: 48,729,417 (GRCm39) |
A1530T |
|
Het |
| Tmem232 |
A |
G |
17: 65,743,367 (GRCm39) |
L308P |
probably damaging |
Het |
| Tulp4 |
A |
G |
17: 6,189,409 (GRCm39) |
N77S |
probably damaging |
Het |
| Unc13d |
AATGCCTCCCATGCC |
AATGCCTCCCATGCCTCCCATGCC |
11: 115,958,998 (GRCm39) |
|
probably benign |
Het |
| Usp48 |
A |
T |
4: 137,341,080 (GRCm39) |
D360V |
probably damaging |
Het |
| Vmn2r84 |
G |
A |
10: 130,226,968 (GRCm39) |
A290V |
probably benign |
Het |
| Zfp1007 |
A |
T |
5: 109,824,174 (GRCm39) |
S425R |
probably benign |
Het |
| Zfp512b |
T |
C |
2: 181,228,525 (GRCm39) |
N738S |
probably benign |
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 |
|
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'- AAGCCAAGCCTGAATCTGC -3'
(R):5'- AGGCCGCTGCTGTAAAATC -3'
Sequencing Primer
(F):5'- AAGCCTGAATCTGCCTGCTATC -3'
(R):5'- GCTGCTGTAAAATCCCTGGAG -3'
|
| Posted On |
2021-11-17 |
Incidental Mutation