Incidental Mutation 'R9179:Catsperd'
| ID |
696917 |
| 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 # |
R9179 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
17 |
| Chromosomal Location |
56935143-56971456 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 56968252 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Asparagine
at position 546
(D546N)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000108603
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000112979]
|
| AlphaFold |
E9Q9F6 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000112979
AA Change: D546N
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
| SMART Domains |
Protein: ENSMUSP00000108603
Gene: ENSMUSG00000040828
AA Change: D546N
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
16 |
N/A |
INTRINSIC |
|
Pfam:CATSPERD
|
38 |
766 |
N/A |
PFAM |
|
| Meta Mutation Damage Score |
0.1780 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 98.9%
|
| Validation Efficiency |
98% (54/55) |
| 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: 57 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700013D24Rik |
T |
A |
6: 124,333,882 (GRCm39) |
M33L |
probably benign |
Het |
| 2310003L06Rik |
A |
G |
5: 88,119,890 (GRCm39) |
T216A |
probably benign |
Het |
| 9330161L09Rik |
A |
C |
12: 103,373,837 (GRCm39) |
C12G |
unknown |
Het |
| Ahdc1 |
T |
A |
4: 132,788,929 (GRCm39) |
F57I |
possibly damaging |
Het |
| Amotl1 |
C |
A |
9: 14,461,787 (GRCm39) |
A809S |
possibly damaging |
Het |
| Ankfn1 |
C |
T |
11: 89,414,011 (GRCm39) |
M121I |
probably benign |
Het |
| Aspm |
A |
G |
1: 139,404,453 (GRCm39) |
D1261G |
probably damaging |
Het |
| Axl |
T |
C |
7: 25,469,658 (GRCm39) |
T502A |
probably damaging |
Het |
| Ccdc102a |
A |
G |
8: 95,639,748 (GRCm39) |
V182A |
possibly damaging |
Het |
| Cdh23 |
C |
T |
10: 60,153,664 (GRCm39) |
A2309T |
probably benign |
Het |
| Cfap69 |
A |
T |
5: 5,676,064 (GRCm39) |
N210K |
probably benign |
Het |
| Cnot1 |
A |
G |
8: 96,500,054 (GRCm39) |
S147P |
probably benign |
Het |
| Cntnap5c |
T |
C |
17: 58,600,912 (GRCm39) |
S752P |
probably benign |
Het |
| Cyp3a41a |
A |
T |
5: 145,642,654 (GRCm39) |
M235K |
probably benign |
Het |
| Cyp4f15 |
A |
G |
17: 32,919,185 (GRCm39) |
D336G |
possibly damaging |
Het |
| Dagla |
A |
G |
19: 10,228,525 (GRCm39) |
I631T |
possibly damaging |
Het |
| Dph6 |
C |
T |
2: 114,353,591 (GRCm39) |
C199Y |
probably damaging |
Het |
| Ermard |
T |
A |
17: 15,273,495 (GRCm39) |
L360Q |
probably damaging |
Het |
| F830045P16Rik |
T |
C |
2: 129,314,708 (GRCm39) |
T190A |
probably benign |
Het |
| Fgfr3 |
G |
T |
5: 33,887,316 (GRCm39) |
V212L |
possibly damaging |
Het |
| Flnb |
C |
A |
14: 7,887,541 (GRCm38) |
C450* |
probably null |
Het |
| Gls |
T |
C |
1: 52,239,015 (GRCm39) |
Y362C |
probably damaging |
Het |
| Gngt1 |
A |
G |
6: 3,994,246 (GRCm39) |
D8G |
possibly damaging |
Het |
| Gns |
T |
C |
10: 121,216,080 (GRCm39) |
F276L |
|
Het |
| Grin2d |
A |
G |
7: 45,506,176 (GRCm39) |
S572P |
probably damaging |
Het |
| Impa2 |
C |
T |
18: 67,422,473 (GRCm39) |
|
probably benign |
Het |
| Itgal |
A |
T |
7: 126,905,883 (GRCm39) |
D355V |
probably benign |
Het |
| Kdm6b |
A |
T |
11: 69,297,521 (GRCm39) |
|
probably null |
Het |
| Klk1b1 |
T |
A |
7: 43,618,715 (GRCm39) |
C31S |
probably damaging |
Het |
| Ldb3 |
A |
T |
14: 34,277,312 (GRCm39) |
V354E |
probably benign |
Het |
| Mettl21c |
T |
A |
1: 44,049,142 (GRCm39) |
Y135F |
probably benign |
Het |
| Mocs1 |
A |
G |
17: 49,740,303 (GRCm39) |
T77A |
probably damaging |
Het |
| Ndufs1 |
T |
C |
1: 63,209,274 (GRCm39) |
N30D |
probably benign |
Het |
| Or1j11 |
T |
C |
2: 36,312,126 (GRCm39) |
S239P |
probably damaging |
Het |
| Or4a71 |
T |
A |
2: 89,358,494 (GRCm39) |
K87* |
probably null |
Het |
| Otog |
C |
A |
7: 45,937,885 (GRCm39) |
P1865T |
possibly damaging |
Het |
| Pabpc1l |
T |
C |
2: 163,873,140 (GRCm39) |
S137P |
probably damaging |
Het |
| Pilrb1 |
C |
A |
5: 137,855,657 (GRCm39) |
W78L |
probably damaging |
Het |
| Plekha6 |
A |
G |
1: 133,214,085 (GRCm39) |
Y832C |
possibly damaging |
Het |
| Ppan |
C |
A |
9: 20,803,199 (GRCm39) |
Q424K |
probably benign |
Het |
| Ppp1r12a |
T |
A |
10: 108,087,782 (GRCm39) |
N544K |
probably damaging |
Het |
| Pramel16 |
T |
C |
4: 143,676,294 (GRCm39) |
E270G |
probably benign |
Het |
| Pstpip2 |
A |
G |
18: 77,961,155 (GRCm39) |
D246G |
possibly damaging |
Het |
| Rasef |
G |
A |
4: 73,662,356 (GRCm39) |
T198I |
probably damaging |
Het |
| Rbm12 |
T |
C |
2: 155,938,463 (GRCm39) |
H603R |
probably benign |
Het |
| Rims1 |
T |
C |
1: 22,482,490 (GRCm39) |
R179G |
probably damaging |
Het |
| Scel |
T |
C |
14: 103,811,836 (GRCm39) |
L288P |
possibly damaging |
Het |
| Sel1l |
A |
T |
12: 91,778,726 (GRCm39) |
D696E |
probably benign |
Het |
| Slc4a8 |
A |
G |
15: 100,689,482 (GRCm39) |
K416R |
possibly damaging |
Het |
| Tmem132b |
A |
T |
5: 125,700,115 (GRCm39) |
M218L |
probably benign |
Het |
| Tnrc6a |
T |
C |
7: 122,791,881 (GRCm39) |
S1800P |
probably benign |
Het |
| Tpcn1 |
A |
C |
5: 120,680,015 (GRCm39) |
L576R |
probably damaging |
Het |
| Vmn2r34 |
T |
G |
7: 7,675,723 (GRCm39) |
Q555P |
possibly damaging |
Het |
| Vwa8 |
C |
T |
14: 79,335,801 (GRCm39) |
T1419I |
probably benign |
Het |
| Xrn2 |
T |
C |
2: 146,855,081 (GRCm39) |
Y14H |
probably benign |
Het |
| Zfp1007 |
A |
G |
5: 109,823,708 (GRCm39) |
C581R |
probably damaging |
Het |
| Zfyve28 |
A |
T |
5: 34,382,376 (GRCm39) |
D241E |
probably benign |
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 |
|
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 |
|
R9419:Catsperd
|
UTSW |
17 |
56,958,821 (GRCm39) |
missense |
probably benign |
0.00 |
|
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'- TATAGAACCTAGGACCACCGGC -3'
(R):5'- CAGAGTTGGTGTGAAAGGCC -3'
Sequencing Primer
(F):5'- GATGGCTCCACCCACAATGG -3'
(R):5'- TTGGTGTGAAAGGCCAGTGAG -3'
|
| Posted On |
2022-02-07 |
Incidental Mutation