Incidental Mutation 'R0180:Catsperg1'
| ID |
23815 |
| Institutional Source |
Beutler Lab
|
| 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: 0.078)
|
| Stock # |
R0180 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
7 |
| Chromosomal Location |
28880746-28913460 bp(-) (GRCm39) |
| Type of Mutation |
splice site (6 bp from exon) |
| DNA Base Change (assembly) |
A to T
at 28889856 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000129837
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000047846]
[ENSMUST00000163782]
[ENSMUST00000164653]
[ENSMUST00000169143]
|
| AlphaFold |
E9Q355 |
| Predicted Effect |
probably null
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 |
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 |
noncoding transcript
Transcript: ENSMUST00000166654
|
| Predicted Effect |
probably null
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 |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000172226
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000171102
|
| Coding Region Coverage |
- 1x: 99.0%
- 3x: 98.1%
- 10x: 95.8%
- 20x: 89.5%
|
| Validation Efficiency |
77% (53/69) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 74 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1110059E24Rik |
T |
A |
19: 21,630,003 (GRCm39) |
N24Y |
probably damaging |
Het |
| 2810408A11Rik |
A |
T |
11: 69,789,702 (GRCm39) |
M311K |
probably benign |
Het |
| Ackr2 |
T |
C |
9: 121,737,982 (GRCm39) |
I119T |
probably benign |
Het |
| Adamtsl3 |
A |
G |
7: 82,225,198 (GRCm39) |
M336V |
probably benign |
Het |
| Adhfe1 |
T |
A |
1: 9,634,082 (GRCm39) |
F374I |
probably benign |
Het |
| Apob |
C |
T |
12: 8,058,285 (GRCm39) |
Q2256* |
probably null |
Het |
| Arg1 |
T |
C |
10: 24,792,728 (GRCm39) |
I169V |
probably benign |
Het |
| Atxn1 |
A |
G |
13: 45,711,024 (GRCm39) |
V636A |
probably damaging |
Het |
| B3gnt5 |
T |
A |
16: 19,587,850 (GRCm39) |
I23K |
possibly damaging |
Het |
| Celf3 |
T |
A |
3: 94,392,647 (GRCm39) |
F115L |
probably damaging |
Het |
| Cep192 |
T |
A |
18: 67,968,559 (GRCm39) |
H984Q |
probably damaging |
Het |
| Col18a1 |
A |
G |
10: 76,932,351 (GRCm39) |
V493A |
probably benign |
Het |
| Col5a2 |
C |
T |
1: 45,450,620 (GRCm39) |
G376S |
probably damaging |
Het |
| Colec12 |
A |
G |
18: 9,848,890 (GRCm39) |
H356R |
probably damaging |
Het |
| Colec12 |
C |
T |
18: 9,858,921 (GRCm39) |
P568L |
unknown |
Het |
| Cracr2a |
T |
C |
6: 127,581,037 (GRCm39) |
|
probably null |
Het |
| Ctsr |
T |
C |
13: 61,310,559 (GRCm39) |
H62R |
probably damaging |
Het |
| Cyp4f40 |
G |
T |
17: 32,878,641 (GRCm39) |
W61L |
probably benign |
Het |
| Dnah9 |
T |
G |
11: 66,038,116 (GRCm39) |
H140P |
probably damaging |
Het |
| Dnai7 |
A |
G |
6: 145,128,944 (GRCm39) |
|
probably benign |
Het |
| Dnm1 |
T |
G |
2: 32,218,005 (GRCm39) |
I464L |
probably damaging |
Het |
| Dnmt1 |
G |
A |
9: 20,819,916 (GRCm39) |
T1409I |
probably damaging |
Het |
| Dock1 |
G |
A |
7: 134,700,566 (GRCm39) |
D1109N |
probably damaging |
Het |
| Efhc1 |
A |
G |
1: 21,037,713 (GRCm39) |
M297V |
probably benign |
Het |
| Emcn |
A |
T |
3: 137,124,755 (GRCm39) |
|
probably null |
Het |
| Ephb1 |
A |
T |
9: 101,804,703 (GRCm39) |
M905K |
probably damaging |
Het |
| Fbxw10 |
A |
G |
11: 62,743,922 (GRCm39) |
Y276C |
probably benign |
Het |
| Fermt3 |
C |
A |
19: 6,979,711 (GRCm39) |
S474I |
possibly damaging |
Het |
| Frg1 |
T |
A |
8: 41,852,105 (GRCm39) |
|
probably null |
Het |
| Gbf1 |
T |
C |
19: 46,274,161 (GRCm39) |
S1732P |
probably benign |
Het |
| Gbp8 |
A |
C |
5: 105,179,142 (GRCm39) |
L119R |
probably damaging |
Het |
| Gldc |
C |
T |
19: 30,078,217 (GRCm39) |
A927T |
possibly damaging |
Het |
| Gm8836 |
T |
A |
6: 70,237,389 (GRCm39) |
|
probably benign |
Het |
| Grhl3 |
C |
T |
4: 135,281,841 (GRCm39) |
V344I |
probably benign |
Het |
| Hhipl1 |
T |
A |
12: 108,294,329 (GRCm39) |
L745H |
probably damaging |
Het |
| Ido1 |
T |
C |
8: 25,083,156 (GRCm39) |
I90V |
possibly damaging |
Het |
| Itpr2 |
T |
A |
6: 146,403,407 (GRCm39) |
|
probably benign |
Het |
| Kif1b |
T |
G |
4: 149,298,116 (GRCm39) |
S1029R |
probably damaging |
Het |
| Kmt2a |
G |
A |
9: 44,738,148 (GRCm39) |
|
probably benign |
Het |
| Limk1 |
T |
C |
5: 134,698,115 (GRCm39) |
N215D |
probably damaging |
Het |
| Lims2 |
A |
G |
18: 32,089,368 (GRCm39) |
K144E |
probably benign |
Het |
| Mfsd6l |
A |
T |
11: 68,447,371 (GRCm39) |
Q74L |
possibly damaging |
Het |
| Mroh1 |
T |
A |
15: 76,312,450 (GRCm39) |
S546T |
probably damaging |
Het |
| Ncbp3 |
T |
A |
11: 72,955,804 (GRCm39) |
|
probably null |
Het |
| Nlrx1 |
G |
A |
9: 44,166,756 (GRCm39) |
H776Y |
possibly damaging |
Het |
| Nptxr |
T |
C |
15: 79,678,604 (GRCm39) |
M228V |
probably benign |
Het |
| Nsf |
T |
A |
11: 103,821,606 (GRCm39) |
L13F |
probably damaging |
Het |
| Nyap1 |
T |
C |
5: 137,736,283 (GRCm39) |
E68G |
probably damaging |
Het |
| Or10p22 |
A |
T |
10: 128,826,703 (GRCm39) |
R307S |
possibly damaging |
Het |
| Or51r1 |
A |
G |
7: 102,228,239 (GRCm39) |
Y179C |
probably damaging |
Het |
| Pcdhb9 |
A |
G |
18: 37,535,307 (GRCm39) |
N434D |
probably damaging |
Het |
| Pgm5 |
T |
C |
19: 24,793,127 (GRCm39) |
D313G |
probably damaging |
Het |
| Pkdcc |
G |
A |
17: 83,529,299 (GRCm39) |
|
probably null |
Het |
| Pkp1 |
T |
C |
1: 135,814,538 (GRCm39) |
K261R |
probably benign |
Het |
| Pnpla6 |
A |
G |
8: 3,574,250 (GRCm39) |
|
probably null |
Het |
| Polr3b |
A |
G |
10: 84,458,379 (GRCm39) |
T17A |
probably benign |
Het |
| Ppt2 |
A |
T |
17: 34,845,477 (GRCm39) |
M98K |
probably damaging |
Het |
| Rasal3 |
T |
C |
17: 32,618,379 (GRCm39) |
D142G |
probably benign |
Het |
| Rbm17 |
G |
A |
2: 11,592,590 (GRCm39) |
S295L |
probably benign |
Het |
| Rhbdf1 |
A |
T |
11: 32,160,042 (GRCm39) |
V153D |
possibly damaging |
Het |
| Slc6a3 |
C |
T |
13: 73,710,455 (GRCm39) |
T355M |
probably damaging |
Het |
| Snrnp35 |
A |
T |
5: 124,628,883 (GRCm39) |
|
probably benign |
Het |
| Sorcs2 |
A |
T |
5: 36,311,189 (GRCm39) |
I37N |
probably damaging |
Het |
| Tecta |
G |
T |
9: 42,278,109 (GRCm39) |
P1133Q |
probably benign |
Het |
| Tmem145 |
A |
G |
7: 25,014,124 (GRCm39) |
I413V |
probably benign |
Het |
| Trappc11 |
G |
T |
8: 47,981,009 (GRCm39) |
T144K |
possibly damaging |
Het |
| Triml2 |
A |
T |
8: 43,643,346 (GRCm39) |
I223L |
probably benign |
Het |
| Ube2g2 |
T |
A |
10: 77,466,573 (GRCm39) |
N19K |
possibly damaging |
Het |
| Ubqln3 |
A |
G |
7: 103,791,047 (GRCm39) |
Y348H |
probably damaging |
Het |
| Wfs1 |
A |
G |
5: 37,124,372 (GRCm39) |
F840L |
probably damaging |
Het |
| Zc3h11a |
T |
C |
1: 133,549,349 (GRCm39) |
I771V |
probably benign |
Het |
| Zdhhc23 |
G |
A |
16: 43,794,066 (GRCm39) |
P203S |
probably benign |
Het |
| Zfp106 |
T |
G |
2: 120,364,356 (GRCm39) |
T684P |
probably damaging |
Het |
| Zfp217 |
A |
T |
2: 169,962,057 (GRCm39) |
L90Q |
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 |
|
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- AGTCGCAGTTACTGAAAGGCACTC -3'
(R):5'- ACTAGCTGACCATCCTGTGCATCC -3'
Sequencing Primer
(F):5'- CTTGATGCCTGATACCTACACC -3'
(R):5'- TACCTGTTCAGCAACCGGC -3'
|
| Posted On |
2013-04-16 |
Incidental Mutation