Incidental Mutation 'R6515:Cabyr'
| ID |
520637 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cabyr
|
| Ensembl Gene |
ENSMUSG00000024430 |
| Gene Name |
calcium binding tyrosine phosphorylation regulated |
| Synonyms |
FSP-2, 1700016C01Rik, 4933421A18Rik, CBP86 |
| MMRRC Submission |
044642-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.091)
|
| Stock # |
R6515 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
18 |
| Chromosomal Location |
12874141-12888203 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 12887340 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Glycine
at position 324
(S324G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000113131
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000074352]
[ENSMUST00000080415]
[ENSMUST00000115857]
[ENSMUST00000117361]
[ENSMUST00000118313]
[ENSMUST00000119043]
[ENSMUST00000119108]
[ENSMUST00000121018]
[ENSMUST00000150758]
[ENSMUST00000119512]
[ENSMUST00000121808]
[ENSMUST00000191078]
[ENSMUST00000186263]
[ENSMUST00000121774]
[ENSMUST00000121888]
|
| AlphaFold |
Q9D424 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000074352
|
| SMART Domains |
Protein: ENSMUSP00000073957
Gene: ENSMUSG00000044252
| Domain | Start | End | E-Value | Type |
|---|
|
ANK
|
47 |
76 |
2.05e-6 |
SMART |
|
ANK
|
80 |
109 |
1.29e-3 |
SMART |
|
low complexity region
|
141 |
153 |
N/A |
INTRINSIC |
|
ANK
|
175 |
204 |
1.31e-4 |
SMART |
|
PH
|
236 |
336 |
6.02e-8 |
SMART |
|
low complexity region
|
345 |
354 |
N/A |
INTRINSIC |
|
coiled coil region
|
430 |
463 |
N/A |
INTRINSIC |
|
Pfam:Oxysterol_BP
|
548 |
940 |
6.7e-149 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000080415
|
| SMART Domains |
Protein: ENSMUSP00000079277
Gene: ENSMUSG00000024430
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:RIIa
|
12 |
46 |
2.3e-12 |
PFAM |
|
low complexity region
|
77 |
96 |
N/A |
INTRINSIC |
|
low complexity region
|
141 |
172 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000115857
|
| SMART Domains |
Protein: ENSMUSP00000111523
Gene: ENSMUSG00000024430
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:RIIa
|
12 |
46 |
2.2e-12 |
PFAM |
|
low complexity region
|
77 |
96 |
N/A |
INTRINSIC |
|
low complexity region
|
141 |
172 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000117361
|
| SMART Domains |
Protein: ENSMUSP00000112681
Gene: ENSMUSG00000044252
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Oxysterol_BP
|
35 |
428 |
5.1e-150 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000118313
|
| SMART Domains |
Protein: ENSMUSP00000113735
Gene: ENSMUSG00000044252
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Oxysterol_BP
|
35 |
428 |
5.1e-150 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000119043
|
| SMART Domains |
Protein: ENSMUSP00000113357
Gene: ENSMUSG00000044252
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Oxysterol_BP
|
35 |
428 |
5.1e-150 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000119108
|
| SMART Domains |
Protein: ENSMUSP00000113760
Gene: ENSMUSG00000024430
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:RIIa
|
12 |
46 |
8.5e-13 |
PFAM |
|
low complexity region
|
77 |
96 |
N/A |
INTRINSIC |
|
low complexity region
|
141 |
172 |
N/A |
INTRINSIC |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000121018
AA Change: S324G
PolyPhen 2
Score 0.925 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000113131
Gene: ENSMUSG00000024430
AA Change: S324G
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:RIIa
|
12 |
46 |
6.7e-12 |
PFAM |
|
low complexity region
|
77 |
96 |
N/A |
INTRINSIC |
|
low complexity region
|
141 |
172 |
N/A |
INTRINSIC |
|
low complexity region
|
213 |
223 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000150758
|
| SMART Domains |
Protein: ENSMUSP00000118330
Gene: ENSMUSG00000024430
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:RIIa
|
12 |
46 |
2.3e-12 |
PFAM |
|
low complexity region
|
77 |
96 |
N/A |
INTRINSIC |
|
low complexity region
|
141 |
172 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000119512
|
| SMART Domains |
Protein: ENSMUSP00000113914
Gene: ENSMUSG00000044252
| Domain | Start | End | E-Value | Type |
|---|
|
coiled coil region
|
38 |
71 |
N/A |
INTRINSIC |
|
Pfam:Oxysterol_BP
|
156 |
549 |
1.2e-149 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000121808
|
| SMART Domains |
Protein: ENSMUSP00000113841
Gene: ENSMUSG00000044252
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Oxysterol_BP
|
35 |
428 |
5.1e-150 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000191078
|
| SMART Domains |
Protein: ENSMUSP00000140894
Gene: ENSMUSG00000024430
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:RIIa
|
12 |
46 |
2.3e-12 |
PFAM |
|
low complexity region
|
77 |
96 |
N/A |
INTRINSIC |
|
low complexity region
|
141 |
172 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000186263
|
| SMART Domains |
Protein: ENSMUSP00000140870
Gene: ENSMUSG00000024430
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:RIIa
|
12 |
46 |
2.3e-12 |
PFAM |
|
low complexity region
|
77 |
96 |
N/A |
INTRINSIC |
|
low complexity region
|
141 |
172 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000121774
|
| SMART Domains |
Protein: ENSMUSP00000113268
Gene: ENSMUSG00000044252
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Oxysterol_BP
|
8 |
401 |
4e-150 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000121888
|
| SMART Domains |
Protein: ENSMUSP00000112895
Gene: ENSMUSG00000044252
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Oxysterol_BP
|
35 |
428 |
5.1e-150 |
PFAM |
|
| Meta Mutation Damage Score |
0.0623 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 97.8%
- 20x: 93.1%
|
| Validation Efficiency |
100% (41/41) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] To reach fertilization competence, spermatozoa undergo a series of morphological and molecular maturational processes, termed capacitation, involving protein tyrosine phosphorylation and increased intracellular calcium. The protein encoded by this gene localizes to the principal piece of the sperm flagellum in association with the fibrous sheath and exhibits calcium-binding when phosphorylated during capacitation. A pseudogene on chromosome 3 has been identified for this gene. Alternatively spliced transcript variants encoding distinct protein isoforms have been found for this gene. [provided by RefSeq, Jul 2013]
PHENOTYPE: Homozygous knockout affects sperm flagellum morphology, resulting in reduced sperm motility. These mutant males are subfertile. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 43 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ap1s3 |
T |
C |
1: 79,592,044 (GRCm39) |
D102G |
probably damaging |
Het |
| Apcdd1 |
T |
A |
18: 63,084,910 (GRCm39) |
M369K |
probably damaging |
Het |
| Atp4a |
A |
G |
7: 30,411,903 (GRCm39) |
K46R |
possibly damaging |
Het |
| Bcl9l |
A |
G |
9: 44,419,171 (GRCm39) |
|
probably null |
Het |
| Casp8ap2 |
A |
G |
4: 32,646,423 (GRCm39) |
D1832G |
possibly damaging |
Het |
| Cdk4 |
C |
T |
10: 126,902,052 (GRCm39) |
P256S |
probably null |
Het |
| Cnot6l |
C |
A |
5: 96,309,537 (GRCm39) |
|
probably benign |
Het |
| Cox17 |
C |
A |
16: 38,167,557 (GRCm39) |
A32E |
probably damaging |
Het |
| Cyp27b1 |
G |
T |
10: 126,884,119 (GRCm39) |
|
probably benign |
Het |
| Enpp2 |
T |
A |
15: 54,723,489 (GRCm39) |
N628I |
possibly damaging |
Het |
| Ggcx |
T |
C |
6: 72,402,815 (GRCm39) |
C258R |
probably benign |
Het |
| Hbb-bh1 |
T |
C |
7: 103,491,974 (GRCm39) |
D80G |
probably damaging |
Het |
| Hoxb5 |
A |
T |
11: 96,195,908 (GRCm39) |
D252V |
probably damaging |
Het |
| Hspa4l |
A |
G |
3: 40,736,014 (GRCm39) |
D545G |
possibly damaging |
Het |
| Hspa5 |
T |
A |
2: 34,662,416 (GRCm39) |
V28E |
probably benign |
Het |
| Ifit1bl1 |
T |
C |
19: 34,571,899 (GRCm39) |
Y186C |
probably damaging |
Het |
| Itpr3 |
C |
T |
17: 27,310,344 (GRCm39) |
A403V |
probably benign |
Het |
| Kif19b |
T |
C |
5: 140,480,779 (GRCm39) |
S970P |
possibly damaging |
Het |
| Klra17 |
A |
T |
6: 129,808,462 (GRCm39) |
I257N |
probably damaging |
Het |
| Megf6 |
C |
T |
4: 154,343,376 (GRCm39) |
H662Y |
possibly damaging |
Het |
| Mfsd6 |
T |
C |
1: 52,700,120 (GRCm39) |
K676R |
probably damaging |
Het |
| Nutm1 |
A |
C |
2: 112,086,665 (GRCm39) |
L22R |
probably benign |
Het |
| Oas1f |
T |
C |
5: 120,986,497 (GRCm39) |
V150A |
probably damaging |
Het |
| Or10ak13 |
T |
C |
4: 118,639,467 (GRCm39) |
Y105C |
probably benign |
Het |
| Or4f62 |
T |
C |
2: 111,986,710 (GRCm39) |
L138P |
probably benign |
Het |
| Pik3ap1 |
A |
G |
19: 41,364,585 (GRCm39) |
Y45H |
probably benign |
Het |
| Pnlip |
T |
C |
19: 58,661,547 (GRCm39) |
S79P |
probably damaging |
Het |
| Ppfia3 |
T |
C |
7: 44,989,657 (GRCm39) |
D1185G |
possibly damaging |
Het |
| Pphln1-ps1 |
G |
A |
16: 13,494,820 (GRCm39) |
|
probably benign |
Het |
| Rbm34 |
A |
T |
8: 127,688,682 (GRCm39) |
S217T |
possibly damaging |
Het |
| Rbm44 |
T |
C |
1: 91,092,860 (GRCm39) |
I820T |
probably damaging |
Het |
| Rnf151 |
A |
T |
17: 24,935,391 (GRCm39) |
L180Q |
probably benign |
Het |
| Sec24d |
G |
A |
3: 123,136,719 (GRCm39) |
R484Q |
possibly damaging |
Het |
| Spop |
C |
A |
11: 95,376,761 (GRCm39) |
D271E |
possibly damaging |
Het |
| Svep1 |
C |
T |
4: 58,088,280 (GRCm39) |
G1723D |
probably damaging |
Het |
| Tenm3 |
G |
C |
8: 48,870,257 (GRCm39) |
Q179E |
probably benign |
Het |
| Thap12 |
A |
G |
7: 98,356,302 (GRCm39) |
E63G |
probably damaging |
Het |
| Thsd7a |
T |
A |
6: 12,501,085 (GRCm39) |
T441S |
possibly damaging |
Het |
| Tle6 |
G |
A |
10: 81,427,810 (GRCm39) |
H482Y |
probably damaging |
Het |
| Tmem184a |
A |
G |
5: 139,794,193 (GRCm39) |
F177L |
probably benign |
Het |
| Uggt2 |
A |
T |
14: 119,315,131 (GRCm39) |
S313T |
possibly damaging |
Het |
| Unc13a |
A |
G |
8: 72,100,584 (GRCm39) |
I1068T |
probably benign |
Het |
| Xirp1 |
T |
C |
9: 119,845,983 (GRCm39) |
R967G |
probably benign |
Het |
|
| Other mutations in Cabyr |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00544:Cabyr
|
APN |
18 |
12,877,667 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0547:Cabyr
|
UTSW |
18 |
12,884,073 (GRCm39) |
missense |
probably benign |
0.07 |
|
R0571:Cabyr
|
UTSW |
18 |
12,883,909 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1556:Cabyr
|
UTSW |
18 |
12,877,837 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3084:Cabyr
|
UTSW |
18 |
12,884,023 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3085:Cabyr
|
UTSW |
18 |
12,884,023 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3086:Cabyr
|
UTSW |
18 |
12,884,023 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3824:Cabyr
|
UTSW |
18 |
12,884,747 (GRCm39) |
missense |
probably benign |
0.04 |
|
R3898:Cabyr
|
UTSW |
18 |
12,884,580 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4869:Cabyr
|
UTSW |
18 |
12,884,875 (GRCm39) |
makesense |
probably null |
|
|
R4933:Cabyr
|
UTSW |
18 |
12,877,549 (GRCm39) |
splice site |
probably benign |
|
|
R5036:Cabyr
|
UTSW |
18 |
12,884,303 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5482:Cabyr
|
UTSW |
18 |
12,884,496 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R5932:Cabyr
|
UTSW |
18 |
12,887,407 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6556:Cabyr
|
UTSW |
18 |
12,884,073 (GRCm39) |
missense |
probably benign |
0.07 |
|
R6852:Cabyr
|
UTSW |
18 |
12,887,154 (GRCm39) |
missense |
probably benign |
0.35 |
|
R6907:Cabyr
|
UTSW |
18 |
12,883,969 (GRCm39) |
missense |
probably benign |
0.05 |
|
R7193:Cabyr
|
UTSW |
18 |
12,884,815 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7565:Cabyr
|
UTSW |
18 |
12,877,656 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
R7777:Cabyr
|
UTSW |
18 |
12,877,828 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7941:Cabyr
|
UTSW |
18 |
12,877,825 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8243:Cabyr
|
UTSW |
18 |
12,883,759 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8406:Cabyr
|
UTSW |
18 |
12,883,804 (GRCm39) |
missense |
probably benign |
0.04 |
|
R8914:Cabyr
|
UTSW |
18 |
12,884,077 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R9224:Cabyr
|
UTSW |
18 |
12,887,278 (GRCm39) |
missense |
possibly damaging |
0.64 |
|
R9635:Cabyr
|
UTSW |
18 |
12,883,816 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9697:Cabyr
|
UTSW |
18 |
12,884,407 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
| Predicted Primers |
PCR Primer
(F):5'- GGCTCAAATGTTCAGGAAGC -3'
(R):5'- AGGCTCAAGTGTGTCACAGC -3'
Sequencing Primer
(F):5'- CGCAGGATTGGAACCCTCTTC -3'
(R):5'- AGTGTGTCACAGCCCACATG -3'
|
| Posted On |
2018-06-06 |
Incidental Mutation