Incidental Mutation 'R9575:Catsperd'
| ID |
722257 |
| 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 # |
R9575 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
17 |
| Chromosomal Location |
56935143-56971456 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 56935231 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Glycine
at position 15
(R15G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000108603
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000047226]
[ENSMUST00000112979]
|
| AlphaFold |
E9Q9F6 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000047226
|
| SMART Domains |
Protein: ENSMUSP00000041814
Gene: ENSMUSG00000041168
| Domain | Start | End | E-Value | Type |
|---|
|
LON
|
111 |
357 |
3.95e-62 |
SMART |
|
low complexity region
|
389 |
404 |
N/A |
INTRINSIC |
|
AAA
|
504 |
649 |
1.81e-14 |
SMART |
|
Pfam:Lon_C
|
725 |
938 |
1e-71 |
PFAM |
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000112979
AA Change: R15G
|
| SMART Domains |
Protein: ENSMUSP00000108603
Gene: ENSMUSG00000040828
AA Change: R15G
| 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: 99.6%
- 20x: 98.8%
|
| Validation Efficiency |
|
| 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: 27 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| B4galt4 |
T |
C |
16: 38,583,513 (GRCm39) |
Y253H |
probably damaging |
Het |
| Cep350 |
G |
A |
1: 155,751,113 (GRCm39) |
P2020S |
probably benign |
Het |
| Cip2a |
T |
A |
16: 48,838,754 (GRCm39) |
M857K |
probably benign |
Het |
| Fancm |
T |
A |
12: 65,152,314 (GRCm39) |
D923E |
possibly damaging |
Het |
| Fastk |
A |
G |
5: 24,650,067 (GRCm39) |
S27P |
probably benign |
Het |
| Flnc |
A |
G |
6: 29,454,399 (GRCm39) |
H1937R |
probably damaging |
Het |
| Gfm2 |
T |
C |
13: 97,285,906 (GRCm39) |
W132R |
probably damaging |
Het |
| Grhl1 |
T |
C |
12: 24,636,082 (GRCm39) |
I348T |
probably damaging |
Het |
| Gstcd |
G |
T |
3: 132,704,708 (GRCm39) |
H515Q |
probably damaging |
Het |
| Igsf3 |
A |
G |
3: 101,338,625 (GRCm39) |
Y313C |
probably damaging |
Het |
| Mbtd1 |
G |
A |
11: 93,799,764 (GRCm39) |
|
probably null |
Het |
| Myo9a |
T |
C |
9: 59,813,190 (GRCm39) |
S2130P |
probably damaging |
Het |
| Or3a10 |
A |
T |
11: 73,935,840 (GRCm39) |
C87S |
probably benign |
Het |
| Plpp4 |
T |
A |
7: 128,925,211 (GRCm39) |
F149I |
probably benign |
Het |
| Poglut1 |
T |
C |
16: 38,363,285 (GRCm39) |
T165A |
probably benign |
Het |
| Potefam3b |
A |
T |
8: 21,159,090 (GRCm39) |
D148V |
probably damaging |
Het |
| Rhbdf1 |
A |
G |
11: 32,163,101 (GRCm39) |
I425T |
probably benign |
Het |
| Sf3a2 |
ACTCCAGGGGTGCACCCACCAGCTCCAGGGGTGCACCCACCAGCTCCAGGGGTGCACCCACCAGCTCCAGGGGT |
ACTCCAGGGGTGCACCCACCAGCTCCAGGGGTGCACCCACCAGCTCCAGGGGT |
10: 80,640,271 (GRCm39) |
|
probably benign |
Het |
| Slc6a9 |
T |
C |
4: 117,714,603 (GRCm39) |
S175P |
probably benign |
Het |
| Slitrk3 |
C |
T |
3: 72,956,127 (GRCm39) |
G882S |
probably benign |
Het |
| Spag9 |
A |
G |
11: 93,962,409 (GRCm39) |
I356M |
probably damaging |
Het |
| Spef2 |
A |
T |
15: 9,596,672 (GRCm39) |
L1459Q |
probably damaging |
Het |
| Tenm3 |
A |
T |
8: 48,688,796 (GRCm39) |
F2264I |
possibly damaging |
Het |
| Vmn2r3 |
T |
C |
3: 64,178,735 (GRCm39) |
N510S |
probably benign |
Het |
| Zfp866 |
A |
T |
8: 70,219,288 (GRCm39) |
C111S |
probably damaging |
Het |
| Zfp971 |
T |
A |
2: 177,675,303 (GRCm39) |
C301S |
probably damaging |
Het |
| Zfp976 |
T |
C |
7: 42,262,041 (GRCm39) |
T600A |
unknown |
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 |
|
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 |
|
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'- TGCTAGTGGCCTTCTTACCTGG -3'
(R):5'- TATGCCTGGGCTCCAACAAG -3'
Sequencing Primer
(F):5'- TTACCTGGTGCGCGTGC -3'
(R):5'- ATGGTGGCTCACAACCATCTG -3'
|
| Posted On |
2022-08-09 |
Incidental Mutation