Incidental Mutation 'R5921:Catsperg1'
ID |
461579 |
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 |
044118-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.078)
|
Stock # |
R5921 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
7 |
Chromosomal Location |
28880746-28913460 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 28889948 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Leucine to Histidine
at position 700
(L700H)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000045233
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000047846]
[ENSMUST00000163782]
[ENSMUST00000164653]
[ENSMUST00000169143]
|
AlphaFold |
E9Q355 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000047846
AA Change: L700H
PolyPhen 2
Score 0.776 (Sensitivity: 0.85; Specificity: 0.92)
|
SMART Domains |
Protein: ENSMUSP00000045233 Gene: ENSMUSG00000049676 AA Change: L700H
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 benign
Transcript: ENSMUST00000169143
AA Change: L753H
PolyPhen 2
Score 0.049 (Sensitivity: 0.94; Specificity: 0.83)
|
SMART Domains |
Protein: ENSMUSP00000129837 Gene: ENSMUSG00000049676 AA Change: L753H
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
|
Meta Mutation Damage Score |
0.1795 |
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.1%
- 20x: 94.7%
|
Validation Efficiency |
95% (70/74) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 63 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Ablim2 |
G |
A |
5: 35,969,555 (GRCm39) |
V223M |
probably damaging |
Het |
Adamts7 |
T |
C |
9: 90,070,747 (GRCm39) |
S623P |
probably benign |
Het |
Aqp7 |
G |
T |
4: 41,036,093 (GRCm39) |
N48K |
probably benign |
Het |
Asic4 |
A |
G |
1: 75,428,017 (GRCm39) |
N181S |
probably benign |
Het |
Blvra |
A |
T |
2: 126,929,283 (GRCm39) |
|
probably benign |
Het |
Bmf |
C |
A |
2: 118,363,034 (GRCm39) |
|
probably benign |
Het |
Bnc2 |
A |
T |
4: 84,211,292 (GRCm39) |
I454N |
possibly damaging |
Het |
Ccdc14 |
T |
C |
16: 34,526,761 (GRCm39) |
V222A |
probably damaging |
Het |
Cfap97d2 |
G |
T |
8: 13,784,840 (GRCm39) |
A34S |
probably damaging |
Het |
Clstn3 |
A |
T |
6: 124,408,539 (GRCm39) |
|
probably benign |
Het |
Col15a1 |
A |
T |
4: 47,300,602 (GRCm39) |
I1066F |
probably damaging |
Het |
Dcdc2c |
T |
C |
12: 28,574,774 (GRCm39) |
E116G |
possibly damaging |
Het |
Dop1a |
G |
A |
9: 86,383,975 (GRCm39) |
S310N |
probably damaging |
Het |
Dync1h1 |
T |
A |
12: 110,584,802 (GRCm39) |
V735E |
probably damaging |
Het |
Eva1a |
T |
C |
6: 82,069,140 (GRCm39) |
Y156H |
probably damaging |
Het |
Fbxw26 |
A |
G |
9: 109,575,086 (GRCm39) |
I13T |
probably damaging |
Het |
Fermt2 |
A |
T |
14: 45,702,203 (GRCm39) |
L527Q |
probably damaging |
Het |
Fxyd4 |
G |
A |
6: 117,913,099 (GRCm39) |
|
probably benign |
Het |
Gal |
A |
G |
19: 3,460,100 (GRCm39) |
S124P |
probably damaging |
Het |
Glmp |
T |
C |
3: 88,233,283 (GRCm39) |
S56P |
probably benign |
Het |
Gm5600 |
T |
C |
7: 113,307,413 (GRCm39) |
|
noncoding transcript |
Het |
Golga2 |
A |
G |
2: 32,187,767 (GRCm39) |
N194S |
probably benign |
Het |
Gon4l |
T |
C |
3: 88,817,254 (GRCm39) |
|
probably benign |
Het |
Gtf2ird2 |
T |
A |
5: 134,246,426 (GRCm39) |
Y895N |
probably damaging |
Het |
Hsd3b1 |
C |
A |
3: 98,765,215 (GRCm39) |
M22I |
probably benign |
Het |
Ipo13 |
A |
C |
4: 117,769,286 (GRCm39) |
L169V |
probably benign |
Het |
Kif13a |
G |
T |
13: 46,978,776 (GRCm39) |
T208K |
probably damaging |
Het |
Klhl5 |
G |
T |
5: 65,320,299 (GRCm39) |
A618S |
probably damaging |
Het |
Lrig2 |
A |
T |
3: 104,370,070 (GRCm39) |
L496* |
probably null |
Het |
Macf1 |
A |
G |
4: 123,420,504 (GRCm39) |
I250T |
probably benign |
Het |
Man1a |
A |
G |
10: 53,783,606 (GRCm39) |
I632T |
probably damaging |
Het |
Nav2 |
A |
G |
7: 48,954,324 (GRCm39) |
|
probably benign |
Het |
Nek8 |
A |
G |
11: 78,063,885 (GRCm39) |
M40T |
probably damaging |
Het |
Oas3 |
T |
C |
5: 120,908,046 (GRCm39) |
D298G |
probably damaging |
Het |
Ociad1 |
A |
G |
5: 73,467,725 (GRCm39) |
D167G |
probably benign |
Het |
Or14j4 |
A |
T |
17: 37,921,110 (GRCm39) |
C177* |
probably null |
Het |
Or8s5 |
T |
C |
15: 98,238,310 (GRCm39) |
T187A |
probably benign |
Het |
Or9s13 |
T |
A |
1: 92,548,344 (GRCm39) |
S239T |
probably benign |
Het |
Pafah2 |
G |
T |
4: 134,145,380 (GRCm39) |
V255L |
probably benign |
Het |
Pde10a |
A |
G |
17: 9,149,369 (GRCm39) |
Y407C |
probably damaging |
Het |
Pirb |
A |
C |
7: 3,719,693 (GRCm39) |
Y484* |
probably null |
Het |
Prl8a6 |
A |
G |
13: 27,621,171 (GRCm39) |
S20P |
probably damaging |
Het |
R3hdm4 |
A |
T |
10: 79,749,453 (GRCm39) |
V52E |
probably damaging |
Het |
Rab3ip |
A |
G |
10: 116,775,152 (GRCm39) |
Y69H |
probably damaging |
Het |
Rxrg |
T |
C |
1: 167,466,808 (GRCm39) |
M330T |
possibly damaging |
Het |
Sema4g |
G |
T |
19: 44,987,143 (GRCm39) |
G460V |
probably benign |
Het |
Sidt1 |
T |
C |
16: 44,094,098 (GRCm39) |
|
probably benign |
Het |
Slc12a2 |
T |
A |
18: 58,065,595 (GRCm39) |
D943E |
probably benign |
Het |
Slc12a4 |
T |
C |
8: 106,671,876 (GRCm39) |
|
probably null |
Het |
Slc4a3 |
T |
G |
1: 75,534,088 (GRCm39) |
|
probably null |
Het |
Slc4a8 |
C |
T |
15: 100,712,328 (GRCm39) |
|
probably benign |
Het |
Srcap |
T |
A |
7: 127,158,005 (GRCm39) |
|
probably benign |
Het |
Stk39 |
A |
G |
2: 68,196,449 (GRCm39) |
S327P |
probably damaging |
Het |
Tbc1d5 |
G |
A |
17: 51,270,721 (GRCm39) |
T170M |
probably damaging |
Het |
Trim13 |
T |
A |
14: 61,842,538 (GRCm39) |
F185Y |
probably benign |
Het |
Ttc17 |
A |
G |
2: 94,209,193 (GRCm39) |
V87A |
probably damaging |
Het |
Ttn |
A |
T |
2: 76,551,207 (GRCm39) |
M31395K |
possibly damaging |
Het |
Usp34 |
T |
A |
11: 23,414,686 (GRCm39) |
D2876E |
probably damaging |
Het |
Uvssa |
T |
C |
5: 33,547,096 (GRCm39) |
S221P |
probably benign |
Het |
Vmn2r93 |
T |
A |
17: 18,546,030 (GRCm39) |
L634Q |
probably damaging |
Het |
Vmp1 |
C |
T |
11: 86,477,336 (GRCm39) |
A355T |
probably benign |
Het |
Xpo5 |
A |
T |
17: 46,532,347 (GRCm39) |
M461L |
probably benign |
Het |
Zfp759 |
T |
A |
13: 67,288,558 (GRCm39) |
F703Y |
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 |
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'- CAATGACAGCTTCTTGTCCAC -3'
(R):5'- GGACAGCACTGAGGTACATTC -3'
Sequencing Primer
(F):5'- CCACATTAATAGTGGGTCCTGCAG -3'
(R):5'- AGGTACATTCCTCCTGGCAG -3'
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Posted On |
2017-02-28 |