Incidental Mutation 'R9419:Catsperd'
| ID |
712247 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Catsperd
|
| Ensembl Gene |
ENSMUSG00000040828 |
| Gene Name |
cation channel sperm associated auxiliary subunit delta |
| Synonyms |
4933402B14Rik, Gm6095, 4921529N20Rik, Tmem146 |
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.053)
|
| Stock # |
R9419 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
17 |
| Chromosomal Location |
56935143-56971456 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 56958821 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Leucine
at position 276
(I276L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000108603
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000112979]
|
| AlphaFold |
E9Q9F6 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000112979
AA Change: I276L
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000108603
Gene: ENSMUSG00000040828
AA Change: I276L
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
16 |
N/A |
INTRINSIC |
|
Pfam:CATSPERD
|
38 |
766 |
N/A |
PFAM |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.1%
|
| Validation Efficiency |
100% (47/47) |
| MGI Phenotype |
PHENOTYPE: Mice homozygous for a deletion in this gene display male infertility. Hyperactivity of sperm fails to develop under capacitating conditions. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 48 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700064H15Rik |
T |
C |
3: 19,682,685 (GRCm39) |
T30A |
unknown |
Het |
| Abca12 |
A |
G |
1: 71,342,649 (GRCm39) |
Y944H |
possibly damaging |
Het |
| Adgrv1 |
T |
C |
13: 81,656,887 (GRCm39) |
N2869S |
probably benign |
Het |
| Ank1 |
C |
A |
8: 23,574,825 (GRCm39) |
Q140K |
probably damaging |
Het |
| Aspm |
T |
A |
1: 139,384,923 (GRCm39) |
M189K |
probably benign |
Het |
| Atp2b1 |
G |
T |
10: 98,837,178 (GRCm39) |
R539L |
possibly damaging |
Het |
| Camsap1 |
A |
G |
2: 25,845,304 (GRCm39) |
S152P |
|
Het |
| Cbarp |
A |
G |
10: 79,967,861 (GRCm39) |
V460A |
probably damaging |
Het |
| Ccdc168 |
T |
C |
1: 44,096,935 (GRCm39) |
I1388V |
probably benign |
Het |
| Cd40 |
A |
T |
2: 164,904,162 (GRCm39) |
|
probably benign |
Het |
| Cdk11b |
A |
T |
4: 155,724,302 (GRCm39) |
T307S |
unknown |
Het |
| Chfr |
C |
T |
5: 110,317,056 (GRCm39) |
T643I |
probably damaging |
Het |
| Cnbd1 |
T |
C |
4: 19,098,156 (GRCm39) |
Q88R |
probably benign |
Het |
| Col15a1 |
G |
C |
4: 47,288,200 (GRCm39) |
|
probably benign |
Het |
| Ghdc |
G |
T |
11: 100,661,081 (GRCm39) |
A28D |
probably damaging |
Het |
| Gm5114 |
T |
C |
7: 39,057,540 (GRCm39) |
H693R |
possibly damaging |
Het |
| H2-M1 |
G |
T |
17: 36,981,231 (GRCm39) |
A268E |
probably damaging |
Het |
| Hsf5 |
A |
G |
11: 87,528,935 (GRCm39) |
N557D |
probably benign |
Het |
| Ighg2c |
A |
G |
12: 113,251,015 (GRCm39) |
|
probably benign |
Het |
| Il17ra |
C |
A |
6: 120,458,255 (GRCm39) |
Q469K |
possibly damaging |
Het |
| Ipo8 |
T |
A |
6: 148,686,064 (GRCm39) |
N809Y |
probably benign |
Het |
| Klra10 |
T |
A |
6: 130,256,435 (GRCm39) |
Q73L |
probably damaging |
Het |
| Lamb2 |
T |
C |
9: 108,356,959 (GRCm39) |
V3A |
unknown |
Het |
| Map3k9 |
T |
C |
12: 81,827,341 (GRCm39) |
Y103C |
probably damaging |
Het |
| Map4 |
T |
C |
9: 109,882,029 (GRCm39) |
S298P |
possibly damaging |
Het |
| Mtus2 |
T |
A |
5: 148,243,451 (GRCm39) |
N1254K |
probably damaging |
Het |
| Nap1l5 |
T |
A |
6: 58,883,952 (GRCm39) |
M1L |
probably benign |
Het |
| Nfxl1 |
G |
A |
5: 72,716,641 (GRCm39) |
|
probably benign |
Het |
| Nmd3 |
T |
C |
3: 69,643,349 (GRCm39) |
I227T |
probably benign |
Het |
| Or8c10 |
T |
G |
9: 38,279,162 (GRCm39) |
C97G |
probably damaging |
Het |
| Pramel39-ps |
G |
T |
5: 94,451,001 (GRCm39) |
P375H |
probably damaging |
Het |
| Ptchd3 |
G |
A |
11: 121,732,356 (GRCm39) |
M415I |
possibly damaging |
Het |
| Rab28 |
A |
T |
5: 41,793,182 (GRCm39) |
S154R |
possibly damaging |
Het |
| Rin1 |
A |
G |
19: 5,103,735 (GRCm39) |
E567G |
probably damaging |
Het |
| Rrbp1 |
A |
C |
2: 143,811,436 (GRCm39) |
V806G |
probably benign |
Het |
| Sec63 |
T |
A |
10: 42,679,901 (GRCm39) |
L326Q |
probably damaging |
Het |
| Serinc2 |
T |
C |
4: 130,149,315 (GRCm39) |
T296A |
probably damaging |
Het |
| Skint10 |
G |
A |
4: 112,572,981 (GRCm39) |
L272F |
probably damaging |
Het |
| Slc4a11 |
C |
T |
2: 130,533,664 (GRCm39) |
A100T |
probably damaging |
Het |
| Stag1 |
A |
G |
9: 100,811,967 (GRCm39) |
Q815R |
probably benign |
Het |
| Stat3 |
A |
G |
11: 100,780,357 (GRCm39) |
M735T |
possibly damaging |
Het |
| Stat3 |
A |
G |
11: 100,784,738 (GRCm39) |
I576T |
probably benign |
Het |
| Styxl2 |
T |
C |
1: 165,927,755 (GRCm39) |
Q619R |
probably damaging |
Het |
| Syne1 |
T |
C |
10: 5,155,071 (GRCm39) |
K5623E |
probably benign |
Het |
| Tas1r2 |
T |
C |
4: 139,387,036 (GRCm39) |
V165A |
possibly damaging |
Het |
| Tcaf3 |
A |
T |
6: 42,573,716 (GRCm39) |
D165E |
probably benign |
Het |
| Tex2 |
G |
A |
11: 106,457,835 (GRCm39) |
Q532* |
probably null |
Het |
| Utrn |
T |
C |
10: 12,564,125 (GRCm39) |
E1245G |
probably damaging |
Het |
|
| Other mutations in Catsperd |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02514:Catsperd
|
APN |
17 |
56,968,271 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL02598:Catsperd
|
APN |
17 |
56,954,815 (GRCm39) |
splice site |
probably null |
|
|
IGL03037:Catsperd
|
APN |
17 |
56,948,583 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
IGL03330:Catsperd
|
APN |
17 |
56,939,316 (GRCm39) |
missense |
possibly damaging |
0.45 |
|
R0391:Catsperd
|
UTSW |
17 |
56,969,821 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0463:Catsperd
|
UTSW |
17 |
56,966,554 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0506:Catsperd
|
UTSW |
17 |
56,965,078 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R0538:Catsperd
|
UTSW |
17 |
56,969,828 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0550:Catsperd
|
UTSW |
17 |
56,970,427 (GRCm39) |
critical splice donor site |
probably null |
|
|
R1503:Catsperd
|
UTSW |
17 |
56,961,525 (GRCm39) |
missense |
possibly damaging |
0.63 |
|
R1705:Catsperd
|
UTSW |
17 |
56,940,521 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R1919:Catsperd
|
UTSW |
17 |
56,942,548 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2851:Catsperd
|
UTSW |
17 |
56,967,169 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R2852:Catsperd
|
UTSW |
17 |
56,967,169 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R3147:Catsperd
|
UTSW |
17 |
56,971,039 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R3148:Catsperd
|
UTSW |
17 |
56,971,039 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R4084:Catsperd
|
UTSW |
17 |
56,961,453 (GRCm39) |
missense |
probably benign |
0.14 |
|
R4329:Catsperd
|
UTSW |
17 |
56,961,517 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R4940:Catsperd
|
UTSW |
17 |
56,969,736 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R4944:Catsperd
|
UTSW |
17 |
56,969,744 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R4952:Catsperd
|
UTSW |
17 |
56,939,303 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5079:Catsperd
|
UTSW |
17 |
56,965,153 (GRCm39) |
critical splice donor site |
probably null |
|
|
R5259:Catsperd
|
UTSW |
17 |
56,967,235 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R5635:Catsperd
|
UTSW |
17 |
56,939,335 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R5929:Catsperd
|
UTSW |
17 |
56,959,493 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6789:Catsperd
|
UTSW |
17 |
56,961,426 (GRCm39) |
splice site |
probably null |
|
|
R6909:Catsperd
|
UTSW |
17 |
56,957,781 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R6920:Catsperd
|
UTSW |
17 |
56,962,175 (GRCm39) |
nonsense |
probably null |
|
|
R7099:Catsperd
|
UTSW |
17 |
56,935,811 (GRCm39) |
splice site |
probably null |
|
|
R7106:Catsperd
|
UTSW |
17 |
56,965,070 (GRCm39) |
splice site |
probably null |
|
|
R7371:Catsperd
|
UTSW |
17 |
56,957,801 (GRCm39) |
missense |
probably benign |
0.22 |
|
R7405:Catsperd
|
UTSW |
17 |
56,939,335 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R7478:Catsperd
|
UTSW |
17 |
56,971,055 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7781:Catsperd
|
UTSW |
17 |
56,971,072 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7918:Catsperd
|
UTSW |
17 |
56,938,564 (GRCm39) |
missense |
probably benign |
0.06 |
|
R7981:Catsperd
|
UTSW |
17 |
56,938,562 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R8200:Catsperd
|
UTSW |
17 |
56,939,368 (GRCm39) |
critical splice donor site |
probably null |
|
|
R8487:Catsperd
|
UTSW |
17 |
56,970,419 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8974:Catsperd
|
UTSW |
17 |
56,959,525 (GRCm39) |
missense |
possibly damaging |
0.45 |
|
R9025:Catsperd
|
UTSW |
17 |
56,962,156 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R9179:Catsperd
|
UTSW |
17 |
56,968,252 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9180:Catsperd
|
UTSW |
17 |
56,968,252 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9185:Catsperd
|
UTSW |
17 |
56,968,252 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9200:Catsperd
|
UTSW |
17 |
56,935,229 (GRCm39) |
missense |
unknown |
|
|
R9328:Catsperd
|
UTSW |
17 |
56,965,074 (GRCm39) |
missense |
possibly damaging |
0.51 |
|
R9443:Catsperd
|
UTSW |
17 |
56,969,720 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R9575:Catsperd
|
UTSW |
17 |
56,935,231 (GRCm39) |
missense |
unknown |
|
|
R9617:Catsperd
|
UTSW |
17 |
56,968,252 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9663:Catsperd
|
UTSW |
17 |
56,960,751 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
| Predicted Primers |
PCR Primer
(F):5'- TCAGAGGGGTTCCATTTCCC -3'
(R):5'- AGGCAAAGCTTCAGCCAATC -3'
Sequencing Primer
(F):5'- ATCAGGTATCCGCAGAGCTC -3'
(R):5'- GCTTCAGCCAATCACAGGG -3'
|
| Posted On |
2022-05-16 |
Incidental Mutation