Incidental Mutation 'IGL00233:Catsper3'
ID |
306834 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Catsper3
|
Ensembl Gene |
ENSMUSG00000021499 |
Gene Name |
cation channel, sperm associated 3 |
Synonyms |
4921522D01Rik |
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
IGL00233
|
Quality Score |
|
Status
|
|
Chromosome |
13 |
Chromosomal Location |
55932381-55956811 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 55946635 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Lysine to Glutamic Acid
at position 111
(K111E)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000021961
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000021961]
[ENSMUST00000109898]
|
AlphaFold |
Q80W99 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000021961
AA Change: K111E
PolyPhen 2
Score 0.936 (Sensitivity: 0.80; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000021961 Gene: ENSMUSG00000021499 AA Change: K111E
Domain | Start | End | E-Value | Type |
Pfam:Ion_trans
|
49 |
277 |
1.8e-33 |
PFAM |
Pfam:PKD_channel
|
144 |
273 |
5e-7 |
PFAM |
coiled coil region
|
283 |
311 |
N/A |
INTRINSIC |
low complexity region
|
387 |
395 |
N/A |
INTRINSIC |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000109898
AA Change: K98E
PolyPhen 2
Score 0.853 (Sensitivity: 0.83; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000105524 Gene: ENSMUSG00000021499 AA Change: K98E
Domain | Start | End | E-Value | Type |
Pfam:Ion_trans
|
72 |
254 |
4.9e-32 |
PFAM |
Pfam:PKD_channel
|
125 |
261 |
2.1e-7 |
PFAM |
coiled coil region
|
270 |
298 |
N/A |
INTRINSIC |
low complexity region
|
374 |
382 |
N/A |
INTRINSIC |
|
Coding Region Coverage |
|
Validation Efficiency |
|
MGI Phenotype |
PHENOTYPE: Mice homozygous for this mutation are viable and exhibit no gross physical or behavioral abnormality. Although wild-type and homozygous mutant females bred to wild-type males exhibit similar fertility, male homozygotes are infertile. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 34 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aimp1 |
A |
T |
3: 132,382,904 (GRCm39) |
|
probably benign |
Het |
Arpc5 |
A |
G |
1: 152,644,658 (GRCm39) |
I64V |
probably benign |
Het |
C030048H21Rik |
G |
A |
2: 26,146,632 (GRCm39) |
R1227W |
probably damaging |
Het |
Cacnb1 |
T |
C |
11: 97,913,190 (GRCm39) |
E21G |
possibly damaging |
Het |
Cda |
T |
C |
4: 138,095,157 (GRCm39) |
Y33C |
probably damaging |
Het |
Celsr3 |
A |
T |
9: 108,726,124 (GRCm39) |
R3118W |
probably damaging |
Het |
Clvs1 |
G |
A |
4: 9,281,939 (GRCm39) |
G128R |
probably damaging |
Het |
Col9a1 |
A |
G |
1: 24,224,306 (GRCm39) |
S163G |
unknown |
Het |
Cyp4v3 |
T |
C |
8: 45,760,040 (GRCm39) |
D64G |
probably benign |
Het |
Dst |
C |
A |
1: 34,290,920 (GRCm39) |
L837M |
probably damaging |
Het |
Eif2ak4 |
T |
A |
2: 118,294,536 (GRCm39) |
I1349N |
probably damaging |
Het |
Elob |
C |
A |
17: 24,043,954 (GRCm39) |
|
probably null |
Het |
Glipr1 |
T |
A |
10: 111,821,555 (GRCm39) |
I216L |
probably benign |
Het |
Gm3238 |
C |
T |
10: 77,607,126 (GRCm39) |
|
probably benign |
Het |
Gm43638 |
C |
T |
5: 87,608,258 (GRCm39) |
R527H |
probably damaging |
Het |
H2-M11 |
A |
G |
17: 36,858,445 (GRCm39) |
K80E |
probably benign |
Het |
Htt |
A |
G |
5: 35,053,370 (GRCm39) |
|
probably null |
Het |
Kif26a |
A |
G |
12: 112,124,066 (GRCm39) |
S224G |
probably damaging |
Het |
Mgat5b |
T |
A |
11: 116,822,488 (GRCm39) |
M74K |
probably damaging |
Het |
Ms4a7 |
A |
T |
19: 11,299,724 (GRCm39) |
V89D |
probably damaging |
Het |
Nlrx1 |
G |
A |
9: 44,175,365 (GRCm39) |
T137I |
probably benign |
Het |
Pcdhb12 |
A |
G |
18: 37,570,035 (GRCm39) |
T394A |
probably benign |
Het |
Pkhd1l1 |
T |
C |
15: 44,340,982 (GRCm39) |
I151T |
probably damaging |
Het |
Plcl1 |
T |
C |
1: 55,445,695 (GRCm39) |
V50A |
probably benign |
Het |
Prkd2 |
T |
C |
7: 16,599,787 (GRCm39) |
F750S |
probably damaging |
Het |
Psmd13 |
T |
C |
7: 140,477,534 (GRCm39) |
V311A |
probably damaging |
Het |
Rec8 |
C |
T |
14: 55,860,972 (GRCm39) |
Q334* |
probably null |
Het |
Rfx7 |
G |
A |
9: 72,514,972 (GRCm39) |
V157I |
probably damaging |
Het |
Sele |
G |
A |
1: 163,879,403 (GRCm39) |
C312Y |
probably damaging |
Het |
Sorcs3 |
A |
G |
19: 48,736,758 (GRCm39) |
T694A |
probably benign |
Het |
Tma16 |
G |
T |
8: 66,933,097 (GRCm39) |
Q95K |
probably benign |
Het |
Vmn1r191 |
T |
C |
13: 22,362,890 (GRCm39) |
D288G |
probably damaging |
Het |
Vmn1r231 |
A |
T |
17: 21,110,828 (GRCm39) |
I29N |
possibly damaging |
Het |
Vmn2r1 |
T |
A |
3: 64,012,389 (GRCm39) |
L750* |
probably null |
Het |
|
Other mutations in Catsper3 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01794:Catsper3
|
APN |
13 |
55,946,719 (GRCm39) |
missense |
possibly damaging |
0.84 |
IGL02419:Catsper3
|
APN |
13 |
55,955,881 (GRCm39) |
missense |
possibly damaging |
0.94 |
IGL03108:Catsper3
|
APN |
13 |
55,955,848 (GRCm39) |
missense |
probably benign |
0.01 |
R0241:Catsper3
|
UTSW |
13 |
55,952,667 (GRCm39) |
missense |
probably damaging |
1.00 |
R0241:Catsper3
|
UTSW |
13 |
55,952,667 (GRCm39) |
missense |
probably damaging |
1.00 |
R1870:Catsper3
|
UTSW |
13 |
55,953,561 (GRCm39) |
missense |
probably damaging |
1.00 |
R2229:Catsper3
|
UTSW |
13 |
55,955,867 (GRCm39) |
missense |
probably damaging |
1.00 |
R3055:Catsper3
|
UTSW |
13 |
55,956,709 (GRCm39) |
missense |
unknown |
|
R3056:Catsper3
|
UTSW |
13 |
55,956,709 (GRCm39) |
missense |
unknown |
|
R4092:Catsper3
|
UTSW |
13 |
55,932,484 (GRCm39) |
missense |
probably benign |
0.00 |
R4113:Catsper3
|
UTSW |
13 |
55,934,183 (GRCm39) |
missense |
probably damaging |
0.99 |
R5197:Catsper3
|
UTSW |
13 |
55,955,989 (GRCm39) |
critical splice donor site |
probably null |
|
R6011:Catsper3
|
UTSW |
13 |
55,934,305 (GRCm39) |
missense |
probably damaging |
0.96 |
R6064:Catsper3
|
UTSW |
13 |
55,954,065 (GRCm39) |
missense |
probably damaging |
0.99 |
R6385:Catsper3
|
UTSW |
13 |
55,934,239 (GRCm39) |
missense |
probably damaging |
0.99 |
R6966:Catsper3
|
UTSW |
13 |
55,946,672 (GRCm39) |
missense |
probably damaging |
0.98 |
R7128:Catsper3
|
UTSW |
13 |
55,946,662 (GRCm39) |
missense |
probably benign |
0.00 |
R7373:Catsper3
|
UTSW |
13 |
55,955,945 (GRCm39) |
missense |
possibly damaging |
0.87 |
R7565:Catsper3
|
UTSW |
13 |
55,932,538 (GRCm39) |
missense |
probably benign |
0.10 |
R8712:Catsper3
|
UTSW |
13 |
55,953,657 (GRCm39) |
missense |
probably benign |
0.20 |
R8879:Catsper3
|
UTSW |
13 |
55,952,708 (GRCm39) |
missense |
probably benign |
0.01 |
R9029:Catsper3
|
UTSW |
13 |
55,954,147 (GRCm39) |
missense |
probably damaging |
1.00 |
R9231:Catsper3
|
UTSW |
13 |
55,946,705 (GRCm39) |
missense |
possibly damaging |
0.78 |
R9397:Catsper3
|
UTSW |
13 |
55,946,725 (GRCm39) |
missense |
probably damaging |
0.99 |
R9570:Catsper3
|
UTSW |
13 |
55,953,669 (GRCm39) |
critical splice donor site |
probably null |
|
R9733:Catsper3
|
UTSW |
13 |
55,946,752 (GRCm39) |
missense |
probably damaging |
1.00 |
Z1088:Catsper3
|
UTSW |
13 |
55,955,917 (GRCm39) |
missense |
probably damaging |
0.99 |
|
Posted On |
2015-04-16 |