Incidental Mutation 'R6144:Catsperg1'
| ID |
488736 |
| 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 |
044291-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.068)
|
| Stock # |
R6144 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
28880746-28913460 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 28910120 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 74
(T74A)
|
| 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: T74A
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000045233
Gene: ENSMUSG00000049676
AA Change: T74A
| 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 |
noncoding transcript
Transcript: ENSMUST00000085819
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000163614
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000163782
AA Change: T1A
PolyPhen 2
Score 0.707 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000127409
Gene: ENSMUSG00000049676
AA Change: T1A
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:CATSPERG
|
1 |
93 |
1.7e-52 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000164653
AA Change: T74A
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000131827
Gene: ENSMUSG00000049676
AA Change: T74A
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:CATSPERG
|
1 |
111 |
1.4e-44 |
PFAM |
|
Pfam:CATSPERG
|
108 |
334 |
8.5e-93 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000165907
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000169143
AA Change: T74A
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000129837
Gene: ENSMUSG00000049676
AA Change: T74A
| 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 |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000167064
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000172226
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000166419
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000166654
|
| Meta Mutation Damage Score |
0.1024 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.4%
- 20x: 95.6%
|
| Validation Efficiency |
96% (65/68) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 69 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 3300002I08Rik |
A |
T |
2: 150,186,564 (GRCm39) |
D40E |
possibly damaging |
Het |
| 4921517D22Rik |
C |
T |
13: 59,837,347 (GRCm39) |
R246H |
probably damaging |
Het |
| Agbl1 |
A |
G |
7: 76,069,832 (GRCm39) |
T203A |
probably benign |
Het |
| Alms1 |
T |
A |
6: 85,600,056 (GRCm39) |
D2096E |
probably damaging |
Het |
| Ankrd53 |
T |
C |
6: 83,739,639 (GRCm39) |
|
probably benign |
Het |
| Arap3 |
C |
A |
18: 38,118,486 (GRCm39) |
G814C |
probably damaging |
Het |
| Armc9 |
T |
G |
1: 86,172,301 (GRCm39) |
I5S |
probably benign |
Het |
| Cdca7l |
T |
A |
12: 117,837,446 (GRCm39) |
|
probably null |
Het |
| Cfhr2 |
T |
A |
1: 139,733,153 (GRCm39) |
|
probably benign |
Het |
| Chpt1 |
A |
G |
10: 88,288,955 (GRCm39) |
|
probably benign |
Het |
| Cntrl |
A |
C |
2: 35,055,745 (GRCm39) |
D1213A |
possibly damaging |
Het |
| Col7a1 |
C |
T |
9: 108,803,148 (GRCm39) |
R2149C |
unknown |
Het |
| Cpa4 |
T |
C |
6: 30,585,082 (GRCm39) |
S289P |
probably damaging |
Het |
| Cpsf3 |
G |
A |
12: 21,356,887 (GRCm39) |
|
probably null |
Het |
| Creb3l1 |
T |
C |
2: 91,822,350 (GRCm39) |
H212R |
possibly damaging |
Het |
| Cybb |
C |
G |
X: 9,316,989 (GRCm39) |
D246H |
probably benign |
Het |
| Cyp2c29 |
A |
G |
19: 39,310,053 (GRCm39) |
D254G |
possibly damaging |
Het |
| Dennd1b |
A |
G |
1: 139,008,993 (GRCm39) |
H232R |
probably damaging |
Het |
| Dhx29 |
T |
C |
13: 113,101,105 (GRCm39) |
L1216P |
probably damaging |
Het |
| Dsg1b |
T |
C |
18: 20,529,476 (GRCm39) |
I307T |
possibly damaging |
Het |
| Ep300 |
A |
G |
15: 81,485,435 (GRCm39) |
S141G |
unknown |
Het |
| Evl |
A |
C |
12: 108,619,290 (GRCm39) |
K101T |
probably damaging |
Het |
| Exph5 |
G |
A |
9: 53,284,328 (GRCm39) |
G470R |
probably benign |
Het |
| Flg |
A |
T |
3: 93,190,515 (GRCm39) |
|
probably benign |
Het |
| Gm45704 |
T |
A |
8: 73,510,920 (GRCm39) |
|
|
Het |
| Grm1 |
T |
C |
10: 10,955,640 (GRCm39) |
M215V |
probably benign |
Het |
| Hadha |
T |
C |
5: 30,345,994 (GRCm39) |
D210G |
probably benign |
Het |
| Hmcn1 |
T |
C |
1: 150,598,175 (GRCm39) |
Y1709C |
probably damaging |
Het |
| Hrc |
A |
T |
7: 44,986,157 (GRCm39) |
H436L |
possibly damaging |
Het |
| Hycc1 |
T |
C |
5: 24,171,367 (GRCm39) |
S352G |
possibly damaging |
Het |
| Ido1 |
T |
A |
8: 25,075,306 (GRCm39) |
T259S |
possibly damaging |
Het |
| Itgb7 |
C |
A |
15: 102,131,917 (GRCm39) |
R222L |
probably benign |
Het |
| Khnyn |
T |
C |
14: 56,125,296 (GRCm39) |
V485A |
probably damaging |
Het |
| Kifc5b |
T |
C |
17: 27,140,826 (GRCm39) |
V100A |
probably benign |
Het |
| Lsm10 |
T |
C |
4: 125,991,794 (GRCm39) |
M50T |
probably damaging |
Het |
| Map3k6 |
T |
G |
4: 132,972,986 (GRCm39) |
W382G |
probably damaging |
Het |
| Mink1 |
T |
A |
11: 70,501,478 (GRCm39) |
F922I |
possibly damaging |
Het |
| Mrap2 |
T |
C |
9: 87,057,871 (GRCm39) |
V53A |
probably damaging |
Het |
| Mrps7 |
C |
A |
11: 115,495,000 (GRCm39) |
A5E |
probably benign |
Het |
| Muc4 |
A |
G |
16: 32,587,298 (GRCm39) |
N2713S |
possibly damaging |
Het |
| Nckipsd |
T |
C |
9: 108,689,585 (GRCm39) |
S249P |
probably damaging |
Het |
| Neil3 |
T |
C |
8: 54,052,447 (GRCm39) |
T384A |
probably benign |
Het |
| Noc3l |
A |
T |
19: 38,787,399 (GRCm39) |
I504K |
probably damaging |
Het |
| Nudt13 |
A |
G |
14: 20,357,839 (GRCm39) |
N107S |
probably benign |
Het |
| Or11h4b |
C |
A |
14: 50,918,392 (GRCm39) |
R233L |
probably benign |
Het |
| Or2n1 |
T |
A |
17: 38,486,116 (GRCm39) |
L47H |
probably damaging |
Het |
| Or5c1 |
T |
A |
2: 37,222,125 (GRCm39) |
M122K |
probably damaging |
Het |
| Otub1 |
G |
T |
19: 7,176,518 (GRCm39) |
Y205* |
probably null |
Het |
| Pals1 |
T |
C |
12: 78,871,563 (GRCm39) |
V381A |
possibly damaging |
Het |
| Pierce2 |
C |
A |
9: 72,887,270 (GRCm39) |
C79F |
probably damaging |
Het |
| Plpp7 |
T |
A |
2: 31,986,100 (GRCm39) |
S93T |
probably damaging |
Het |
| Pxk |
T |
G |
14: 8,138,011 (GRCm38) |
Y188D |
probably damaging |
Het |
| Rigi |
T |
C |
4: 40,229,551 (GRCm39) |
I78V |
probably benign |
Het |
| Rnd2 |
C |
T |
11: 101,359,825 (GRCm39) |
L57F |
probably damaging |
Het |
| Rpap1 |
A |
T |
2: 119,603,128 (GRCm39) |
C602* |
probably null |
Het |
| Sbds |
T |
C |
5: 130,275,185 (GRCm39) |
K248E |
probably benign |
Het |
| Serpina10 |
A |
T |
12: 103,595,092 (GRCm39) |
N42K |
probably benign |
Het |
| Slc7a8 |
A |
G |
14: 54,966,797 (GRCm39) |
L368P |
probably damaging |
Het |
| Srrm1 |
T |
C |
4: 135,065,184 (GRCm39) |
|
probably benign |
Het |
| Sun2 |
C |
T |
15: 79,614,533 (GRCm39) |
V288I |
probably benign |
Het |
| Tas2r107 |
C |
A |
6: 131,636,966 (GRCm39) |
A28S |
possibly damaging |
Het |
| Tbc1d9b |
T |
C |
11: 50,037,155 (GRCm39) |
I268T |
probably benign |
Het |
| Tjp2 |
A |
G |
19: 24,097,437 (GRCm39) |
F495L |
probably damaging |
Het |
| Top2b |
T |
C |
14: 16,423,740 (GRCm38) |
L1434P |
possibly damaging |
Het |
| Top3b |
A |
G |
16: 16,697,005 (GRCm39) |
|
probably null |
Het |
| Trdv2-2 |
A |
T |
14: 54,198,761 (GRCm39) |
E17V |
possibly damaging |
Het |
| Ttc6 |
T |
A |
12: 57,719,886 (GRCm39) |
L819Q |
possibly damaging |
Het |
| Txlnb |
A |
G |
10: 17,718,914 (GRCm39) |
T582A |
probably benign |
Het |
| Zfp788 |
T |
C |
7: 41,299,193 (GRCm39) |
S558P |
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 |
|
|
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 |
|
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'- ATACTGTAAACTCTTACCTGTCCCG -3'
(R):5'- CAAACCTTTGGGCATTCTGG -3'
Sequencing Primer
(F):5'- TCCCGGACAGGAAAAGTTGATTTG -3'
(R):5'- CATTCTGGGTACTGCGGC -3'
|
| Posted On |
2017-10-10 |
Incidental Mutation