Incidental Mutation 'R2246:Wipf3'
ID |
240854 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Wipf3
|
Ensembl Gene |
ENSMUSG00000086040 |
Gene Name |
WAS/WASL interacting protein family, member 3 |
Synonyms |
|
MMRRC Submission |
040246-MU
|
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.275)
|
Stock # |
R2246 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
6 |
Chromosomal Location |
54406588-54480753 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 54466058 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Proline to Serine
at position 439
(P439S)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000132138
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000126637]
[ENSMUST00000132855]
[ENSMUST00000163746]
[ENSMUST00000172046]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably benign
Transcript: ENSMUST00000126637
|
SMART Domains |
Protein: ENSMUSP00000116325 Gene: ENSMUSG00000086040
Domain | Start | End | E-Value | Type |
low complexity region
|
2 |
42 |
N/A |
INTRINSIC |
WH2
|
56 |
73 |
2.16e-5 |
SMART |
low complexity region
|
94 |
105 |
N/A |
INTRINSIC |
low complexity region
|
175 |
204 |
N/A |
INTRINSIC |
low complexity region
|
221 |
251 |
N/A |
INTRINSIC |
low complexity region
|
257 |
276 |
N/A |
INTRINSIC |
low complexity region
|
296 |
312 |
N/A |
INTRINSIC |
low complexity region
|
334 |
348 |
N/A |
INTRINSIC |
low complexity region
|
384 |
390 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000128480
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000131043
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000132855
AA Change: P439S
PolyPhen 2
Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000120240 Gene: ENSMUSG00000086040 AA Change: P439S
Domain | Start | End | E-Value | Type |
low complexity region
|
2 |
42 |
N/A |
INTRINSIC |
WH2
|
56 |
73 |
2.16e-5 |
SMART |
low complexity region
|
94 |
105 |
N/A |
INTRINSIC |
low complexity region
|
175 |
204 |
N/A |
INTRINSIC |
low complexity region
|
221 |
251 |
N/A |
INTRINSIC |
low complexity region
|
257 |
276 |
N/A |
INTRINSIC |
low complexity region
|
296 |
312 |
N/A |
INTRINSIC |
low complexity region
|
334 |
348 |
N/A |
INTRINSIC |
low complexity region
|
384 |
390 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000163746
|
SMART Domains |
Protein: ENSMUSP00000132022 Gene: ENSMUSG00000086040
Domain | Start | End | E-Value | Type |
low complexity region
|
2 |
42 |
N/A |
INTRINSIC |
WH2
|
56 |
73 |
2.16e-5 |
SMART |
low complexity region
|
94 |
105 |
N/A |
INTRINSIC |
low complexity region
|
175 |
204 |
N/A |
INTRINSIC |
low complexity region
|
221 |
251 |
N/A |
INTRINSIC |
low complexity region
|
257 |
276 |
N/A |
INTRINSIC |
low complexity region
|
296 |
312 |
N/A |
INTRINSIC |
low complexity region
|
334 |
348 |
N/A |
INTRINSIC |
low complexity region
|
384 |
390 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000172046
AA Change: P439S
PolyPhen 2
Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000132138 Gene: ENSMUSG00000086040 AA Change: P439S
Domain | Start | End | E-Value | Type |
low complexity region
|
2 |
42 |
N/A |
INTRINSIC |
WH2
|
56 |
73 |
2.16e-5 |
SMART |
low complexity region
|
94 |
105 |
N/A |
INTRINSIC |
low complexity region
|
175 |
204 |
N/A |
INTRINSIC |
low complexity region
|
221 |
251 |
N/A |
INTRINSIC |
low complexity region
|
257 |
276 |
N/A |
INTRINSIC |
low complexity region
|
296 |
312 |
N/A |
INTRINSIC |
low complexity region
|
334 |
348 |
N/A |
INTRINSIC |
low complexity region
|
384 |
390 |
N/A |
INTRINSIC |
|
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.4%
- 20x: 95.3%
|
Validation Efficiency |
|
MGI Phenotype |
PHENOTYPE: Mice homozygous for a knock-out allele display impaired spermatogenesis, abnormal sperm head morphology, and significantly reduced male fertility. Female fertility is not affected. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 39 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Alms1 |
T |
G |
6: 85,599,949 (GRCm39) |
S1592A |
possibly damaging |
Het |
Anapc16 |
G |
T |
10: 59,832,298 (GRCm39) |
Y38* |
probably null |
Het |
Clec7a |
T |
A |
6: 129,444,532 (GRCm39) |
H101L |
probably benign |
Het |
Cwf19l2 |
A |
G |
9: 3,430,661 (GRCm39) |
D331G |
probably benign |
Het |
Dcaf1 |
A |
G |
9: 106,731,376 (GRCm39) |
T618A |
possibly damaging |
Het |
Dysf |
G |
A |
6: 84,163,491 (GRCm39) |
|
probably null |
Het |
Fn1 |
A |
T |
1: 71,667,694 (GRCm39) |
D766E |
probably benign |
Het |
Ggta1 |
T |
C |
2: 35,292,121 (GRCm39) |
*395W |
probably null |
Het |
Grik2 |
C |
T |
10: 49,411,532 (GRCm39) |
R202H |
probably damaging |
Het |
Hcls1 |
G |
T |
16: 36,782,984 (GRCm39) |
S445I |
probably damaging |
Het |
Hip1 |
A |
C |
5: 135,481,698 (GRCm39) |
S166R |
probably damaging |
Het |
Hivep2 |
C |
A |
10: 14,004,713 (GRCm39) |
T437K |
probably benign |
Het |
Igsf9 |
T |
A |
1: 172,319,216 (GRCm39) |
S236R |
probably benign |
Het |
Knl1 |
C |
T |
2: 118,902,708 (GRCm39) |
P1470S |
probably damaging |
Het |
Ldb3 |
A |
T |
14: 34,251,432 (GRCm39) |
H675Q |
probably damaging |
Het |
Or10ab4 |
C |
T |
7: 107,654,989 (GRCm39) |
R267C |
probably benign |
Het |
Or10ag57 |
T |
A |
2: 87,218,195 (GRCm39) |
S49T |
probably benign |
Het |
Or6c3b |
A |
G |
10: 129,527,812 (GRCm39) |
Y33H |
probably damaging |
Het |
Palld |
T |
C |
8: 62,330,169 (GRCm39) |
D236G |
probably benign |
Het |
Pank3 |
A |
G |
11: 35,674,333 (GRCm39) |
K332R |
probably benign |
Het |
Phaf1 |
T |
A |
8: 105,973,132 (GRCm39) |
D247E |
possibly damaging |
Het |
Pramel11 |
A |
G |
4: 143,623,790 (GRCm39) |
V128A |
probably benign |
Het |
Prrc2c |
A |
G |
1: 162,535,360 (GRCm39) |
|
probably benign |
Het |
Ror2 |
C |
T |
13: 53,265,638 (GRCm39) |
G473S |
probably damaging |
Het |
Shisal1 |
T |
A |
15: 84,301,400 (GRCm39) |
H81L |
probably damaging |
Het |
Slc15a2 |
A |
T |
16: 36,582,723 (GRCm39) |
Y222N |
probably damaging |
Het |
Slc38a7 |
A |
T |
8: 96,570,468 (GRCm39) |
M269K |
probably damaging |
Het |
Srrd |
A |
T |
5: 112,487,622 (GRCm39) |
L159H |
probably damaging |
Het |
Tap2 |
C |
A |
17: 34,427,775 (GRCm39) |
S218Y |
possibly damaging |
Het |
Tex15 |
G |
A |
8: 34,072,540 (GRCm39) |
V2696I |
possibly damaging |
Het |
Tmem67 |
G |
A |
4: 12,040,651 (GRCm39) |
T1030I |
probably damaging |
Het |
Traf5 |
T |
C |
1: 191,751,190 (GRCm39) |
|
probably null |
Het |
Try4 |
C |
T |
6: 41,282,406 (GRCm39) |
T242I |
possibly damaging |
Het |
Ubqln3 |
C |
T |
7: 103,791,518 (GRCm39) |
V191I |
probably damaging |
Het |
Vmn2r67 |
T |
C |
7: 84,785,764 (GRCm39) |
Y747C |
probably damaging |
Het |
Zbed5 |
A |
T |
5: 129,931,592 (GRCm39) |
M514L |
probably benign |
Het |
Zfp592 |
A |
G |
7: 80,691,361 (GRCm39) |
D1180G |
possibly damaging |
Het |
Zfyve9 |
A |
T |
4: 108,546,461 (GRCm39) |
D790E |
possibly damaging |
Het |
Zkscan16 |
A |
G |
4: 58,957,329 (GRCm39) |
K537R |
probably benign |
Het |
|
Other mutations in Wipf3 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
R0234:Wipf3
|
UTSW |
6 |
54,473,486 (GRCm39) |
missense |
probably damaging |
0.99 |
R0234:Wipf3
|
UTSW |
6 |
54,473,486 (GRCm39) |
missense |
probably damaging |
0.99 |
R0427:Wipf3
|
UTSW |
6 |
54,460,882 (GRCm39) |
missense |
possibly damaging |
0.65 |
R0529:Wipf3
|
UTSW |
6 |
54,462,348 (GRCm39) |
missense |
probably damaging |
0.97 |
R0699:Wipf3
|
UTSW |
6 |
54,460,817 (GRCm39) |
missense |
probably damaging |
0.99 |
R3809:Wipf3
|
UTSW |
6 |
54,458,780 (GRCm39) |
missense |
probably damaging |
0.96 |
R4037:Wipf3
|
UTSW |
6 |
54,458,813 (GRCm39) |
missense |
probably damaging |
1.00 |
R4038:Wipf3
|
UTSW |
6 |
54,458,813 (GRCm39) |
missense |
probably damaging |
1.00 |
R4613:Wipf3
|
UTSW |
6 |
54,462,540 (GRCm39) |
missense |
probably damaging |
1.00 |
R5144:Wipf3
|
UTSW |
6 |
54,462,660 (GRCm39) |
missense |
probably damaging |
1.00 |
R5408:Wipf3
|
UTSW |
6 |
54,458,896 (GRCm39) |
missense |
probably benign |
0.25 |
R5464:Wipf3
|
UTSW |
6 |
54,462,308 (GRCm39) |
missense |
possibly damaging |
0.46 |
R7116:Wipf3
|
UTSW |
6 |
54,458,904 (GRCm39) |
critical splice donor site |
probably null |
|
R7383:Wipf3
|
UTSW |
6 |
54,462,263 (GRCm39) |
missense |
probably benign |
0.04 |
R7577:Wipf3
|
UTSW |
6 |
54,462,509 (GRCm39) |
missense |
possibly damaging |
0.91 |
R7752:Wipf3
|
UTSW |
6 |
54,458,896 (GRCm39) |
missense |
probably benign |
0.25 |
R8117:Wipf3
|
UTSW |
6 |
54,460,816 (GRCm39) |
missense |
probably benign |
0.27 |
R8472:Wipf3
|
UTSW |
6 |
54,466,070 (GRCm39) |
missense |
probably benign |
0.02 |
R9264:Wipf3
|
UTSW |
6 |
54,460,866 (GRCm39) |
missense |
probably benign |
0.05 |
R9694:Wipf3
|
UTSW |
6 |
54,466,004 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
Predicted Primers |
PCR Primer
(F):5'- AAGCAGGTGGACTCTTGGAG -3'
(R):5'- TCAGTGAACCATTAGGCATCAG -3'
Sequencing Primer
(F):5'- GGACTCTTGGAGAAATAACTCTGCC -3'
(R):5'- TTAGGCATCAGGACAAATACATCTC -3'
|
Posted On |
2014-10-15 |