Incidental Mutation 'R9014:Catsperg1'
| ID |
685835 |
| 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 |
068844-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.078)
|
| Stock # |
R9014 (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 28906066 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Cysteine
at position 171
(Y171C)
|
| 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: Y171C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000045233
Gene: ENSMUSG00000049676
AA Change: Y171C
| 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: Y171C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000129837
Gene: ENSMUSG00000049676
AA Change: Y171C
| 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: 98.7%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 71 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aco2 |
A |
G |
15: 81,798,857 (GRCm39) |
N746S |
probably benign |
Het |
| Ahnak2 |
T |
C |
12: 112,740,170 (GRCm39) |
T1301A |
possibly damaging |
Het |
| Akap6 |
T |
A |
12: 53,186,403 (GRCm39) |
N1272K |
possibly damaging |
Het |
| Apc |
G |
T |
18: 34,354,074 (GRCm39) |
|
probably benign |
Het |
| Arap1 |
A |
G |
7: 101,053,540 (GRCm39) |
S1290G |
probably damaging |
Het |
| Arhgef25 |
T |
C |
10: 127,019,607 (GRCm39) |
Y483C |
probably damaging |
Het |
| Arpp21 |
G |
T |
9: 112,006,796 (GRCm39) |
Q138K |
probably damaging |
Het |
| Bahcc1 |
C |
T |
11: 120,163,715 (GRCm39) |
A671V |
probably benign |
Het |
| Bahcc1 |
T |
C |
11: 120,173,048 (GRCm39) |
S1557P |
probably benign |
Het |
| Bltp2 |
T |
C |
11: 78,160,488 (GRCm39) |
L649P |
possibly damaging |
Het |
| Brca2 |
C |
A |
5: 150,465,219 (GRCm39) |
T1661K |
probably benign |
Het |
| Casq1 |
T |
A |
1: 172,038,064 (GRCm39) |
S356C |
probably damaging |
Het |
| Ccdc88c |
G |
C |
12: 100,879,323 (GRCm39) |
Q1926E |
probably benign |
Het |
| Cdc42bpg |
T |
A |
19: 6,372,289 (GRCm39) |
M1425K |
possibly damaging |
Het |
| Chac2 |
C |
T |
11: 30,936,158 (GRCm39) |
R30Q |
probably damaging |
Het |
| Clca3a1 |
T |
C |
3: 144,442,731 (GRCm39) |
D771G |
probably benign |
Het |
| Cyp26c1 |
T |
C |
19: 37,675,844 (GRCm39) |
|
probably null |
Het |
| Dcaf8 |
T |
C |
1: 172,007,530 (GRCm39) |
V333A |
possibly damaging |
Het |
| Dennd4c |
G |
A |
4: 86,739,702 (GRCm39) |
S997N |
probably benign |
Het |
| Dennd4c |
A |
C |
4: 86,754,666 (GRCm39) |
I1559L |
probably benign |
Het |
| Dgcr8 |
T |
G |
16: 18,077,514 (GRCm39) |
H632P |
possibly damaging |
Het |
| Dhx16 |
C |
A |
17: 36,193,490 (GRCm39) |
R278S |
probably benign |
Het |
| Dsel |
A |
T |
1: 111,788,509 (GRCm39) |
Y675* |
probably null |
Het |
| Dsp |
T |
C |
13: 38,376,700 (GRCm39) |
I1495T |
possibly damaging |
Het |
| Fam227a |
T |
A |
15: 79,504,958 (GRCm39) |
N495I |
possibly damaging |
Het |
| Fcgbpl1 |
A |
G |
7: 27,854,876 (GRCm39) |
E1834G |
probably damaging |
Het |
| Focad |
T |
A |
4: 88,275,763 (GRCm39) |
M1124K |
unknown |
Het |
| Foxi3 |
A |
G |
6: 70,937,815 (GRCm39) |
H349R |
probably damaging |
Het |
| Foxp1 |
TTGCTGCTGCTGCTGCTGCTGTTGCTGCTGCTGCTGTTGTTGCTGCTGCTGTTGCTGCTGTTGCTGCTGCTGCTGCTGCTGCTGTTGCTGCTGCTGCTGTTGCTGCTGCTG |
TTGCTGCTGCTGCTGCTGTTGCTGCTGCTGCTGTTGTTGCTGCTGCTGTTGCTGCTGTTGCTGCTGCTGCTGCTGCTGCTGTTGCTGCTGCTGCTGTTGCTGCTGCTG |
6: 99,052,866 (GRCm39) |
|
probably benign |
Het |
| Fsip2 |
C |
A |
2: 82,806,898 (GRCm39) |
D1072E |
probably benign |
Het |
| Fsip2 |
T |
G |
2: 82,817,075 (GRCm39) |
H4269Q |
possibly damaging |
Het |
| Fzd10 |
C |
G |
5: 128,679,369 (GRCm39) |
P363R |
probably damaging |
Het |
| Gm49383 |
A |
C |
12: 69,243,425 (GRCm39) |
Y151* |
probably null |
Het |
| Ighv1-26 |
T |
A |
12: 114,752,033 (GRCm39) |
S104C |
probably damaging |
Het |
| Kat6a |
A |
G |
8: 23,430,087 (GRCm39) |
N1814S |
unknown |
Het |
| Kif18a |
T |
A |
2: 109,123,414 (GRCm39) |
H229Q |
probably damaging |
Het |
| Klk1b4 |
C |
T |
7: 43,859,098 (GRCm39) |
R39C |
probably benign |
Het |
| Lgr6 |
T |
C |
1: 134,931,248 (GRCm39) |
I269V |
probably damaging |
Het |
| Lrtm2 |
A |
G |
6: 119,294,219 (GRCm39) |
V304A |
probably damaging |
Het |
| Lsm8 |
A |
G |
6: 18,853,632 (GRCm39) |
D78G |
possibly damaging |
Het |
| Mroh2b |
T |
C |
15: 4,928,670 (GRCm39) |
M1T |
probably null |
Het |
| Ms4a14 |
T |
C |
19: 11,278,871 (GRCm39) |
E1229G |
possibly damaging |
Het |
| Nbeal1 |
G |
A |
1: 60,329,118 (GRCm39) |
D2179N |
probably damaging |
Het |
| Nfix |
G |
A |
8: 85,448,405 (GRCm39) |
T366M |
possibly damaging |
Het |
| Or12j4 |
A |
T |
7: 140,045,883 (GRCm39) |
|
probably benign |
Het |
| Or56b1b |
A |
G |
7: 108,164,882 (GRCm39) |
L40P |
possibly damaging |
Het |
| Or8b49 |
T |
C |
9: 38,506,123 (GRCm39) |
V202A |
probably damaging |
Het |
| Or8h9 |
T |
A |
2: 86,789,035 (GRCm39) |
I256F |
probably benign |
Het |
| Pear1 |
T |
C |
3: 87,658,479 (GRCm39) |
Q964R |
probably benign |
Het |
| Pgk2 |
T |
G |
17: 40,518,687 (GRCm39) |
E247A |
probably benign |
Het |
| Ppfia2 |
C |
T |
10: 106,763,666 (GRCm39) |
P1220S |
probably benign |
Het |
| Ppp1r1b |
T |
C |
11: 98,241,449 (GRCm39) |
S46P |
probably damaging |
Het |
| Ppp2ca |
C |
A |
11: 52,009,510 (GRCm39) |
H167Q |
probably damaging |
Het |
| Scel |
A |
T |
14: 103,822,575 (GRCm39) |
R396S |
probably benign |
Het |
| Siae |
T |
C |
9: 37,557,639 (GRCm39) |
V482A |
possibly damaging |
Het |
| Skint2 |
A |
G |
4: 112,483,026 (GRCm39) |
M144V |
probably benign |
Het |
| Slc23a3 |
A |
G |
1: 75,109,274 (GRCm39) |
F219L |
probably benign |
Het |
| Slc4a4 |
G |
T |
5: 89,280,245 (GRCm39) |
A348S |
probably damaging |
Het |
| Spin1 |
G |
T |
13: 51,282,010 (GRCm39) |
|
probably null |
Het |
| Tab2 |
G |
A |
10: 7,794,920 (GRCm39) |
R521W |
probably damaging |
Het |
| Tas2r118 |
G |
A |
6: 23,970,049 (GRCm39) |
T4M |
probably benign |
Het |
| Tet2 |
T |
A |
3: 133,172,949 (GRCm39) |
D1771V |
probably damaging |
Het |
| Tmprss15 |
T |
C |
16: 78,872,691 (GRCm39) |
T172A |
probably benign |
Het |
| Trav7-6 |
A |
G |
14: 53,954,604 (GRCm39) |
K65E |
probably benign |
Het |
| Txnrd3 |
A |
G |
6: 89,631,091 (GRCm39) |
Y129C |
probably damaging |
Het |
| Ulk4 |
A |
G |
9: 121,017,294 (GRCm39) |
I728T |
probably benign |
Het |
| Vmn1r44 |
G |
A |
6: 89,870,997 (GRCm39) |
V248M |
possibly damaging |
Het |
| Wdr64 |
A |
G |
1: 175,526,395 (GRCm39) |
I15V |
probably benign |
Het |
| Zdhhc17 |
T |
C |
10: 110,785,544 (GRCm39) |
T423A |
probably benign |
Het |
| Zfp619 |
T |
C |
7: 39,187,246 (GRCm39) |
I1092T |
probably benign |
Het |
| Zfp729b |
A |
T |
13: 67,740,274 (GRCm39) |
Y664N |
probably 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 |
|
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 |
|
|
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'- GTGAGGAATGCCATCTCAGG -3'
(R):5'- CAGATTCTGATGGAGGCTGCTC -3'
Sequencing Primer
(F):5'- AGCTCACAGCCACCTTTC -3'
(R):5'- GCTGCTCCAATGCGCAG -3'
|
| Posted On |
2021-10-11 |
Incidental Mutation