Incidental Mutation 'IGL02584:Catsperg1'
| ID |
299462 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Catsperg1
|
| Ensembl Gene |
ENSMUSG00000049676 |
| Gene Name |
cation channel sperm associated auxiliary subunit gamma 1 |
| Synonyms |
A230107C01Rik, Catsperg |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.068)
|
| Stock # |
IGL02584
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
7 |
| Chromosomal Location |
28880746-28913460 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 28884146 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 989
(D989G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000129837
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000047846]
[ENSMUST00000059642]
[ENSMUST00000163782]
[ENSMUST00000164653]
[ENSMUST00000169143]
[ENSMUST00000209034]
[ENSMUST00000182328]
[ENSMUST00000186182]
|
| AlphaFold |
E9Q355 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000047846
AA Change: D936G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000045233
Gene: ENSMUSG00000049676
AA Change: D936G
| 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: ENSMUST00000059642
|
| SMART Domains |
Protein: ENSMUSP00000051657
Gene: ENSMUSG00000030591
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
11 |
23 |
N/A |
INTRINSIC |
|
low complexity region
|
60 |
82 |
N/A |
INTRINSIC |
|
low complexity region
|
117 |
129 |
N/A |
INTRINSIC |
|
Pfam:CSN8_PSD8_EIF3K
|
189 |
330 |
1.2e-40 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000085819
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000163445
|
| 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 |
noncoding transcript
Transcript: ENSMUST00000166419
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000169143
AA Change: D989G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000129837
Gene: ENSMUSG00000049676
AA Change: D989G
| 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: ENSMUST00000166654
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000172226
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000170118
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000209034
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000171102
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000182328
|
| SMART Domains |
Protein: ENSMUSP00000138613
Gene: ENSMUSG00000030591
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
2 |
18 |
N/A |
INTRINSIC |
|
Pfam:SAC3_GANP
|
49 |
232 |
1.2e-37 |
PFAM |
|
Pfam:PCI_Csn8
|
125 |
266 |
4.1e-42 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000186182
|
| SMART Domains |
Protein: ENSMUSP00000139514
Gene: ENSMUSG00000030591
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
11 |
23 |
N/A |
INTRINSIC |
|
low complexity region
|
60 |
82 |
N/A |
INTRINSIC |
|
Pfam:SAC3_GANP
|
113 |
296 |
1.3e-37 |
PFAM |
|
Pfam:PCI_Csn8
|
189 |
330 |
2.3e-42 |
PFAM |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 37 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1110057P08Rik |
A |
T |
16: 88,971,744 (GRCm39) |
Y22F |
unknown |
Het |
| Adgrb3 |
A |
G |
1: 25,544,065 (GRCm39) |
L312P |
probably damaging |
Het |
| Anpep |
T |
C |
7: 79,475,141 (GRCm39) |
|
probably benign |
Het |
| Arhgef6 |
T |
G |
X: 56,291,738 (GRCm39) |
|
probably benign |
Het |
| Ccnj |
T |
A |
19: 40,833,185 (GRCm39) |
V121E |
probably benign |
Het |
| Cdyl |
T |
C |
13: 35,867,769 (GRCm39) |
L15P |
probably benign |
Het |
| Cnrip1 |
T |
A |
11: 17,028,536 (GRCm39) |
M156K |
probably damaging |
Het |
| Cryga |
T |
A |
1: 65,142,175 (GRCm39) |
S73C |
probably benign |
Het |
| Dennd4a |
A |
G |
9: 64,758,580 (GRCm39) |
T240A |
probably damaging |
Het |
| Eml6 |
A |
G |
11: 29,699,387 (GRCm39) |
S1789P |
probably damaging |
Het |
| Esr2 |
A |
T |
12: 76,192,036 (GRCm39) |
W331R |
probably damaging |
Het |
| Fbh1 |
A |
T |
2: 11,764,769 (GRCm39) |
L455H |
probably benign |
Het |
| Gm21698 |
T |
A |
5: 26,192,391 (GRCm39) |
E65V |
probably damaging |
Het |
| Grm8 |
G |
T |
6: 27,762,438 (GRCm39) |
F262L |
probably benign |
Het |
| Haus3 |
A |
T |
5: 34,323,602 (GRCm39) |
L336* |
probably null |
Het |
| Hfm1 |
A |
C |
5: 107,026,528 (GRCm39) |
|
probably null |
Het |
| Hgfac |
T |
C |
5: 35,201,305 (GRCm39) |
|
probably benign |
Het |
| Ighv1-22 |
T |
C |
12: 114,709,942 (GRCm39) |
E101G |
probably benign |
Het |
| Impg2 |
A |
G |
16: 56,085,374 (GRCm39) |
E1027G |
probably damaging |
Het |
| Lypd5 |
A |
T |
7: 24,052,993 (GRCm39) |
T217S |
possibly damaging |
Het |
| Myrf |
A |
G |
19: 10,189,587 (GRCm39) |
|
probably benign |
Het |
| Mzf1 |
A |
G |
7: 12,786,744 (GRCm39) |
W109R |
probably damaging |
Het |
| Ndufb4 |
A |
T |
16: 37,469,532 (GRCm39) |
|
probably benign |
Het |
| Ntn1 |
A |
G |
11: 68,168,356 (GRCm39) |
V367A |
probably damaging |
Het |
| Oprk1 |
A |
G |
1: 5,668,827 (GRCm39) |
K91R |
probably damaging |
Het |
| Or5m11b |
C |
T |
2: 85,806,219 (GRCm39) |
L211F |
probably damaging |
Het |
| Pdlim1 |
A |
G |
19: 40,231,844 (GRCm39) |
|
probably null |
Het |
| Ppp1r11 |
G |
A |
17: 37,260,781 (GRCm39) |
R61C |
probably damaging |
Het |
| Racgap1 |
T |
C |
15: 99,521,515 (GRCm39) |
D547G |
probably benign |
Het |
| Sema4b |
A |
G |
7: 79,874,736 (GRCm39) |
T709A |
probably benign |
Het |
| Srrm1 |
G |
A |
4: 135,052,415 (GRCm39) |
P658L |
unknown |
Het |
| Supt5 |
T |
C |
7: 28,025,592 (GRCm39) |
H218R |
probably benign |
Het |
| Tmem132c |
T |
A |
5: 127,582,063 (GRCm39) |
I426N |
probably damaging |
Het |
| Tpcn1 |
T |
C |
5: 120,677,097 (GRCm39) |
N696S |
probably damaging |
Het |
| Ttn |
T |
C |
2: 76,566,506 (GRCm39) |
N26383S |
possibly damaging |
Het |
| Vax2 |
A |
G |
6: 83,688,495 (GRCm39) |
T73A |
probably benign |
Het |
| Zfp518a |
G |
A |
19: 40,903,061 (GRCm39) |
G997R |
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 |
|
|
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 |
|
|
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 |
|
| Posted On |
2015-04-16 |
Incidental Mutation