Incidental Mutation 'R9478:Catsperg1'
| ID |
715927 |
| 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 |
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.078)
|
| Stock # |
R9478 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
7 |
| Chromosomal Location |
28880746-28913460 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 28897777 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Proline to Threonine
at position 197
(P197T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000067388
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000047846]
[ENSMUST00000069861]
[ENSMUST00000163782]
[ENSMUST00000164653]
[ENSMUST00000169143]
|
| AlphaFold |
E9Q355 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000047846
AA Change: P399T
PolyPhen 2
Score 0.351 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000045233
Gene: ENSMUSG00000049676
AA Change: P399T
| 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 |
possibly damaging
Transcript: ENSMUST00000069861
AA Change: P197T
PolyPhen 2
Score 0.548 (Sensitivity: 0.88; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000067388
Gene: ENSMUSG00000049676
AA Change: P197T
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:CATSPERG
|
1 |
57 |
7.9e-14 |
PFAM |
|
Pfam:CATSPERG
|
73 |
205 |
7e-65 |
PFAM |
|
| 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 |
possibly damaging
Transcript: ENSMUST00000169143
AA Change: P399T
PolyPhen 2
Score 0.653 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000129837
Gene: ENSMUSG00000049676
AA Change: P399T
| 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 |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.9%
- 20x: 99.6%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 60 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2210408I21Rik |
A |
T |
13: 77,451,573 (GRCm39) |
I886F |
possibly damaging |
Het |
| 3100002H09Rik |
A |
G |
4: 124,504,151 (GRCm39) |
S134P |
unknown |
Het |
| Abcf2 |
A |
G |
5: 24,770,940 (GRCm39) |
L604P |
possibly damaging |
Het |
| Arih2 |
C |
G |
9: 108,488,938 (GRCm39) |
R260P |
probably damaging |
Het |
| Atg14 |
G |
T |
14: 47,783,138 (GRCm39) |
H373Q |
probably damaging |
Het |
| Atmin |
C |
T |
8: 117,681,537 (GRCm39) |
H179Y |
probably damaging |
Het |
| Ccdc7b |
C |
T |
8: 129,837,473 (GRCm39) |
Q155* |
probably null |
Het |
| Cep85l |
T |
G |
10: 53,224,875 (GRCm39) |
E238A |
possibly damaging |
Het |
| Cfap119 |
T |
C |
7: 127,184,087 (GRCm39) |
|
probably null |
Het |
| Cntln |
G |
A |
4: 84,897,630 (GRCm39) |
V406I |
probably benign |
Het |
| Csf2rb2 |
C |
A |
15: 78,168,965 (GRCm39) |
G730V |
probably benign |
Het |
| Cyp3a59 |
T |
A |
5: 146,034,997 (GRCm39) |
L225Q |
probably damaging |
Het |
| Dock1 |
T |
A |
7: 134,367,962 (GRCm39) |
F511I |
probably damaging |
Het |
| Dsg1b |
A |
T |
18: 20,531,008 (GRCm39) |
Y453F |
|
Het |
| Dync1h1 |
T |
C |
12: 110,625,137 (GRCm39) |
F3829L |
probably benign |
Het |
| Epha8 |
G |
T |
4: 136,665,897 (GRCm39) |
L420M |
probably damaging |
Het |
| Esco2 |
C |
A |
14: 66,068,657 (GRCm39) |
G218* |
probably null |
Het |
| Gale |
C |
T |
4: 135,692,574 (GRCm39) |
|
probably benign |
Het |
| Grid1 |
G |
A |
14: 35,043,664 (GRCm39) |
D340N |
probably damaging |
Het |
| Hgf |
A |
G |
5: 16,766,029 (GRCm39) |
D55G |
possibly damaging |
Het |
| Il17ra |
A |
G |
6: 120,451,336 (GRCm39) |
D170G |
possibly damaging |
Het |
| Inha |
A |
G |
1: 75,486,562 (GRCm39) |
S286G |
probably benign |
Het |
| Kif1b |
C |
T |
4: 149,345,616 (GRCm39) |
|
probably null |
Het |
| Klhl24 |
T |
G |
16: 19,941,763 (GRCm39) |
S570R |
possibly damaging |
Het |
| Krt87 |
G |
A |
15: 101,385,449 (GRCm39) |
R308W |
probably benign |
Het |
| Lama2 |
T |
A |
10: 26,891,478 (GRCm39) |
E2545V |
probably damaging |
Het |
| Lztfl1 |
T |
C |
9: 123,537,167 (GRCm39) |
K165E |
possibly damaging |
Het |
| Mab21l3 |
A |
T |
3: 101,725,987 (GRCm39) |
D336E |
probably damaging |
Het |
| Matn2 |
T |
C |
15: 34,345,242 (GRCm39) |
I83T |
probably damaging |
Het |
| Mfsd9 |
T |
C |
1: 40,812,941 (GRCm39) |
D458G |
probably benign |
Het |
| Ncbp3 |
A |
G |
11: 72,968,768 (GRCm39) |
D513G |
probably damaging |
Het |
| Neb |
T |
A |
2: 52,078,788 (GRCm39) |
K5818N |
probably benign |
Het |
| Nol4 |
G |
A |
18: 23,053,934 (GRCm39) |
P120S |
probably damaging |
Het |
| Oit3 |
C |
A |
10: 59,274,464 (GRCm39) |
C112F |
probably damaging |
Het |
| Or11g27 |
A |
T |
14: 50,771,051 (GRCm39) |
T61S |
probably benign |
Het |
| Or4b1 |
C |
A |
2: 89,979,595 (GRCm39) |
A252S |
possibly damaging |
Het |
| Or5p52 |
G |
A |
7: 107,502,238 (GRCm39) |
V105M |
probably damaging |
Het |
| Or6c6 |
T |
A |
10: 129,186,960 (GRCm39) |
M176K |
possibly damaging |
Het |
| Pank4 |
G |
A |
4: 155,064,565 (GRCm39) |
R708Q |
probably benign |
Het |
| Plch1 |
T |
A |
3: 63,606,825 (GRCm39) |
L1026F |
probably benign |
Het |
| Poglut3 |
T |
C |
9: 53,303,236 (GRCm39) |
F232L |
probably damaging |
Het |
| Ptpn3 |
A |
T |
4: 57,197,573 (GRCm39) |
I772N |
probably damaging |
Het |
| Purb |
A |
G |
11: 6,425,424 (GRCm39) |
F155L |
probably damaging |
Het |
| Rcor2 |
C |
T |
19: 7,248,794 (GRCm39) |
R256W |
probably damaging |
Het |
| Rp1 |
A |
G |
1: 4,417,545 (GRCm39) |
L1189P |
probably benign |
Het |
| Scn1a |
T |
C |
2: 66,156,493 (GRCm39) |
E472G |
probably benign |
Het |
| Sema3e |
T |
C |
5: 14,286,386 (GRCm39) |
Y536H |
probably damaging |
Het |
| Serpina3n |
A |
T |
12: 104,378,672 (GRCm39) |
I331F |
possibly damaging |
Het |
| Sertad3 |
T |
C |
7: 27,175,679 (GRCm39) |
S38P |
probably damaging |
Het |
| Sfrp4 |
G |
T |
13: 19,807,610 (GRCm39) |
R3L |
unknown |
Het |
| Slc35a5 |
T |
C |
16: 44,964,426 (GRCm39) |
E269G |
probably damaging |
Het |
| Snrnp200 |
G |
A |
2: 127,076,993 (GRCm39) |
|
probably null |
Het |
| Sumo1 |
A |
G |
1: 59,694,615 (GRCm39) |
|
probably null |
Het |
| Syne2 |
A |
G |
12: 76,154,387 (GRCm39) |
K2020E |
probably damaging |
Het |
| Tcp10a |
A |
T |
17: 7,601,740 (GRCm39) |
T247S |
probably benign |
Het |
| Tgds |
T |
C |
14: 118,352,544 (GRCm39) |
D290G |
possibly damaging |
Het |
| Trav7d-3 |
A |
T |
14: 52,982,054 (GRCm39) |
I32F |
possibly damaging |
Het |
| Vps41 |
A |
G |
13: 19,046,913 (GRCm39) |
N788D |
|
Het |
| Zfp521 |
G |
A |
18: 13,950,372 (GRCm39) |
T1194I |
probably damaging |
Het |
| Zmynd8 |
C |
A |
2: 165,649,569 (GRCm39) |
K841N |
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 |
|
R5921:Catsperg1
|
UTSW |
7 |
28,889,948 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
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 |
|
|
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'- TGACTAGGTAAAATTGCCCAGAG -3'
(R):5'- ACCCCTGGACTAAGAGGTTC -3'
Sequencing Primer
(F):5'- AGCAGGTTCCTCTCATCAGTGATG -3'
(R):5'- TTCAAGGTGTGGAGGACCC -3'
|
| Posted On |
2022-06-15 |
Incidental Mutation