Incidental Mutation 'R7473:Catsperg1'
| ID |
579265 |
| 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 |
045547-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.068)
|
| Stock # |
R7473 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
28880746-28913460 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 28894903 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 565
(S565P)
|
| 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 damaging
Transcript: ENSMUST00000169143
AA Change: S565P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000129837
Gene: ENSMUSG00000049676
AA Change: S565P
| 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: 100.0%
- 10x: 99.7%
- 20x: 99.1%
|
| Validation Efficiency |
96% (80/83) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 82 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4933434E20Rik |
T |
C |
3: 89,965,960 (GRCm39) |
|
probably null |
Het |
| A630095N17Rik |
G |
A |
1: 75,208,675 (GRCm39) |
T15I |
unknown |
Het |
| Actr1b |
A |
G |
1: 36,748,900 (GRCm39) |
V12A |
probably benign |
Het |
| Add1 |
A |
G |
5: 34,776,697 (GRCm39) |
T473A |
possibly damaging |
Het |
| Akap11 |
A |
T |
14: 78,751,328 (GRCm39) |
V353E |
|
Het |
| Alcam |
G |
A |
16: 52,272,882 (GRCm39) |
|
probably benign |
Het |
| Alpi |
A |
G |
1: 87,027,369 (GRCm39) |
|
probably null |
Het |
| Ap3s2 |
A |
G |
7: 79,565,779 (GRCm39) |
F49S |
probably damaging |
Het |
| Arpc1a |
A |
G |
5: 145,037,886 (GRCm39) |
K174E |
probably benign |
Het |
| Bbox1 |
A |
T |
2: 110,095,843 (GRCm39) |
S374T |
probably damaging |
Het |
| Bean1 |
CT |
C |
8: 104,908,664 (GRCm39) |
|
probably null |
Het |
| Bltp2 |
T |
C |
11: 78,157,941 (GRCm39) |
S368P |
possibly damaging |
Het |
| Bmp2k |
A |
G |
5: 97,204,871 (GRCm39) |
N402S |
probably benign |
Het |
| Bmper |
C |
A |
9: 23,286,926 (GRCm39) |
A284D |
probably benign |
Het |
| Bnip5 |
G |
A |
17: 29,124,298 (GRCm39) |
R335W |
probably damaging |
Het |
| Bpifb2 |
A |
T |
2: 153,723,116 (GRCm39) |
H124L |
possibly damaging |
Het |
| Bsn |
C |
T |
9: 107,989,449 (GRCm39) |
R2101Q |
probably damaging |
Het |
| Cacng1 |
T |
A |
11: 107,607,018 (GRCm39) |
D67V |
probably damaging |
Het |
| Cep126 |
C |
T |
9: 8,101,779 (GRCm39) |
E252K |
probably damaging |
Het |
| Cep55 |
G |
A |
19: 38,058,384 (GRCm39) |
E326K |
probably damaging |
Het |
| Cfap58 |
T |
A |
19: 47,963,064 (GRCm39) |
Y491* |
probably null |
Het |
| Cpeb2 |
T |
C |
5: 43,434,848 (GRCm39) |
S747P |
|
Het |
| Cryz |
T |
A |
3: 154,312,157 (GRCm39) |
S85T |
probably benign |
Het |
| D2hgdh |
T |
C |
1: 93,765,800 (GRCm39) |
V367A |
probably damaging |
Het |
| Dgkh |
T |
C |
14: 78,836,483 (GRCm39) |
N703S |
probably benign |
Het |
| Dnah11 |
T |
C |
12: 117,866,911 (GRCm39) |
S4077G |
probably benign |
Het |
| Dnah14 |
A |
G |
1: 181,579,704 (GRCm39) |
H3079R |
probably damaging |
Het |
| Dnah2 |
T |
A |
11: 69,382,484 (GRCm39) |
T1209S |
probably damaging |
Het |
| Dnmt3b |
A |
G |
2: 153,526,370 (GRCm39) |
D804G |
probably damaging |
Het |
| Ell2 |
A |
G |
13: 75,898,154 (GRCm39) |
E143G |
probably damaging |
Het |
| Exoc2 |
A |
G |
13: 31,006,613 (GRCm39) |
|
probably null |
Het |
| Fahd2a |
A |
T |
2: 127,282,376 (GRCm39) |
I131N |
probably damaging |
Het |
| Fer1l5 |
A |
G |
1: 36,460,689 (GRCm39) |
N1976D |
possibly damaging |
Het |
| Flt1 |
A |
G |
5: 147,531,405 (GRCm39) |
S853P |
probably damaging |
Het |
| Frg2f1 |
C |
T |
4: 119,387,990 (GRCm39) |
V170I |
probably benign |
Het |
| Gcn1 |
G |
A |
5: 115,719,863 (GRCm39) |
V373M |
probably benign |
Het |
| Gm19965 |
A |
G |
1: 116,749,602 (GRCm39) |
T428A |
unknown |
Het |
| Gm4792 |
A |
G |
10: 94,129,730 (GRCm39) |
I124T |
unknown |
Het |
| Grik2 |
A |
T |
10: 48,989,618 (GRCm39) |
C804S |
probably benign |
Het |
| Heatr6 |
T |
A |
11: 83,672,217 (GRCm39) |
I1075N |
probably damaging |
Het |
| Hunk |
G |
A |
16: 90,250,588 (GRCm39) |
A211T |
probably damaging |
Het |
| Ighe |
T |
C |
12: 113,234,976 (GRCm39) |
I395V |
probably damaging |
Het |
| Ino80e |
A |
T |
7: 126,456,484 (GRCm39) |
S104T |
probably damaging |
Het |
| Inpp4a |
A |
G |
1: 37,408,534 (GRCm39) |
Y305C |
probably benign |
Het |
| Insrr |
T |
A |
3: 87,711,838 (GRCm39) |
|
probably null |
Het |
| Itgae |
T |
G |
11: 73,031,504 (GRCm39) |
D1073E |
possibly damaging |
Het |
| Klf11 |
G |
T |
12: 24,705,141 (GRCm39) |
|
probably null |
Het |
| Lrguk |
A |
T |
6: 34,006,630 (GRCm39) |
K80M |
probably benign |
Het |
| Map2 |
A |
T |
1: 66,454,617 (GRCm39) |
D1169V |
probably damaging |
Het |
| Mpst |
G |
T |
15: 78,297,726 (GRCm39) |
C248F |
probably damaging |
Het |
| Myo9a |
C |
A |
9: 59,802,527 (GRCm39) |
Q2005K |
probably benign |
Het |
| Nfatc4 |
C |
T |
14: 56,069,421 (GRCm39) |
T649I |
probably benign |
Het |
| Nmt1 |
A |
G |
11: 102,937,226 (GRCm39) |
R88G |
probably benign |
Het |
| Nqo1 |
G |
A |
8: 108,129,729 (GRCm39) |
|
probably benign |
Het |
| Nudt2 |
T |
G |
4: 41,477,576 (GRCm39) |
M19R |
probably benign |
Het |
| Or10a49 |
T |
A |
7: 108,467,476 (GRCm39) |
K295M |
probably damaging |
Het |
| Or12d2 |
T |
A |
17: 37,624,522 (GRCm39) |
Y251F |
probably benign |
Het |
| Or9q2 |
C |
T |
19: 13,772,526 (GRCm39) |
V150M |
probably benign |
Het |
| P2ry1 |
T |
A |
3: 60,911,509 (GRCm39) |
I216N |
probably damaging |
Het |
| Pcx |
T |
A |
19: 4,669,589 (GRCm39) |
L823* |
probably null |
Het |
| Pkhd1 |
A |
G |
1: 20,619,980 (GRCm39) |
V880A |
probably damaging |
Het |
| Plcb1 |
A |
T |
2: 135,186,196 (GRCm39) |
N721I |
probably damaging |
Het |
| Prdm15 |
T |
C |
16: 97,623,046 (GRCm39) |
K269E |
possibly damaging |
Het |
| Prl7b1 |
A |
G |
13: 27,785,996 (GRCm39) |
V224A |
possibly damaging |
Het |
| Reln |
A |
G |
5: 22,134,125 (GRCm39) |
V2601A |
probably benign |
Het |
| Rspo4 |
G |
A |
2: 151,714,993 (GRCm39) |
R210Q |
unknown |
Het |
| Slc7a5 |
A |
T |
8: 122,615,162 (GRCm39) |
D228E |
probably benign |
Het |
| Spopfm2 |
T |
A |
3: 94,083,509 (GRCm39) |
K101* |
probably null |
Het |
| Tas2r115 |
A |
G |
6: 132,714,214 (GRCm39) |
S246P |
probably damaging |
Het |
| Tenm4 |
A |
G |
7: 96,423,353 (GRCm39) |
Y716C |
probably damaging |
Het |
| Tgfb3 |
T |
C |
12: 86,108,923 (GRCm39) |
K269E |
possibly damaging |
Het |
| Thoc6 |
A |
G |
17: 23,889,841 (GRCm39) |
I27T |
probably benign |
Het |
| Tigd5 |
G |
A |
15: 75,781,748 (GRCm39) |
G37S |
probably benign |
Het |
| Tmem259 |
C |
T |
10: 79,815,506 (GRCm39) |
D102N |
possibly damaging |
Het |
| Tpo |
T |
G |
12: 30,142,589 (GRCm39) |
I712L |
probably benign |
Het |
| Ttn |
G |
A |
2: 76,700,892 (GRCm39) |
T21M |
possibly damaging |
Het |
| Utp20 |
A |
T |
10: 88,656,572 (GRCm39) |
|
probably null |
Het |
| Xrcc5 |
A |
G |
1: 72,351,748 (GRCm39) |
D106G |
probably damaging |
Het |
| Xrn1 |
T |
A |
9: 95,861,194 (GRCm39) |
F451L |
probably benign |
Het |
| Zar1l |
T |
A |
5: 150,441,203 (GRCm39) |
D141V |
probably damaging |
Het |
| Zfp27 |
A |
T |
7: 29,595,324 (GRCm39) |
C214S |
possibly damaging |
Het |
| Znfx1 |
A |
T |
2: 166,880,744 (GRCm39) |
C1211S |
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 |
|
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'- CAGGAGCCTCTTGACTAAACG -3'
(R):5'- GGGGACTTTTCCAAAGAGTACAC -3'
Sequencing Primer
(F):5'- CGTTCTTTTCCAACGTCAAAAAG -3'
(R):5'- TTCCAAAGAGTACACATCCTTGG -3'
|
| Posted On |
2019-10-07 |
Incidental Mutation