Incidental Mutation 'R4038:Wipf3'
| ID |
313795 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Wipf3
|
| Ensembl Gene |
ENSMUSG00000086040 |
| Gene Name |
WAS/WASL interacting protein family, member 3 |
| Synonyms |
|
| MMRRC Submission |
040965-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.297)
|
| Stock # |
R4038 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
6 |
| Chromosomal Location |
54406588-54480753 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 54458813 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glycine to Aspartic acid
at position 56
(G56D)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000132022
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000126637]
[ENSMUST00000132855]
[ENSMUST00000163746]
[ENSMUST00000172046]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000126637
AA Change: G56D
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000116325
Gene: ENSMUSG00000086040
AA Change: G56D
| 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 |
probably damaging
Transcript: ENSMUST00000132855
AA Change: G56D
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000120240
Gene: ENSMUSG00000086040
AA Change: G56D
| 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: ENSMUST00000163746
AA Change: G56D
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000132022
Gene: ENSMUSG00000086040
AA Change: G56D
| 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: G56D
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000132138
Gene: ENSMUSG00000086040
AA Change: G56D
| 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 |
|
| Meta Mutation Damage Score |
0.1883 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 96.7%
- 20x: 93.1%
|
| Validation Efficiency |
93% (39/42) |
| 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: 38 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ate1 |
A |
G |
7: 130,106,495 (GRCm39) |
S282P |
probably damaging |
Het |
| Cacna1d |
T |
A |
14: 29,788,040 (GRCm39) |
Q1610L |
probably damaging |
Het |
| Carmil2 |
C |
A |
8: 106,422,039 (GRCm39) |
R1103S |
probably damaging |
Het |
| Clca3a1 |
T |
A |
3: 144,460,994 (GRCm39) |
Y219F |
probably benign |
Het |
| Creb3l3 |
A |
G |
10: 80,925,172 (GRCm39) |
V224A |
probably benign |
Het |
| Crnkl1 |
T |
A |
2: 145,774,247 (GRCm39) |
D72V |
possibly damaging |
Het |
| Dhcr24 |
T |
C |
4: 106,431,075 (GRCm39) |
F255L |
probably benign |
Het |
| Eef2kmt |
A |
T |
16: 5,063,135 (GRCm39) |
V335D |
probably damaging |
Het |
| Elp2 |
T |
A |
18: 24,767,405 (GRCm39) |
W696R |
probably damaging |
Het |
| Glb1l3 |
A |
C |
9: 26,740,343 (GRCm39) |
M329R |
probably damaging |
Het |
| Gm4787 |
A |
T |
12: 81,425,132 (GRCm39) |
F342Y |
probably damaging |
Het |
| Gpr137c |
C |
A |
14: 45,457,687 (GRCm39) |
L80I |
probably damaging |
Het |
| Gpr83 |
A |
G |
9: 14,772,073 (GRCm39) |
I82V |
possibly damaging |
Het |
| Greb1l |
C |
T |
18: 10,515,209 (GRCm39) |
T558I |
possibly damaging |
Het |
| Hnrnpul2 |
T |
A |
19: 8,800,591 (GRCm39) |
|
probably benign |
Het |
| Hspa2 |
T |
C |
12: 76,452,542 (GRCm39) |
V412A |
probably damaging |
Het |
| Iqcd |
T |
C |
5: 120,740,587 (GRCm39) |
V306A |
probably damaging |
Het |
| Lmod3 |
T |
C |
6: 97,225,275 (GRCm39) |
N182S |
probably benign |
Het |
| Metrn |
T |
C |
17: 26,013,984 (GRCm39) |
T281A |
probably benign |
Het |
| Mid1-ps1 |
G |
A |
Y: 90,773,563 (GRCm39) |
|
noncoding transcript |
Het |
| Mmachc |
T |
A |
4: 116,563,215 (GRCm39) |
T47S |
probably damaging |
Het |
| Nfia |
C |
A |
4: 97,909,074 (GRCm39) |
R277S |
probably damaging |
Het |
| Or9m2 |
T |
A |
2: 87,821,262 (GRCm39) |
I269N |
possibly damaging |
Het |
| Pcdha8 |
T |
C |
18: 37,125,914 (GRCm39) |
M132T |
probably benign |
Het |
| Prkaa2 |
T |
C |
4: 104,908,444 (GRCm39) |
N144D |
probably damaging |
Het |
| Ptprf |
C |
T |
4: 118,114,805 (GRCm39) |
R150H |
probably damaging |
Het |
| Sfmbt1 |
T |
G |
14: 30,509,449 (GRCm39) |
D309E |
probably damaging |
Het |
| Skint5 |
G |
T |
4: 113,743,011 (GRCm39) |
T352K |
unknown |
Het |
| Slc16a10 |
G |
C |
10: 39,932,620 (GRCm39) |
H314D |
possibly damaging |
Het |
| Slc28a2 |
C |
A |
2: 122,284,996 (GRCm39) |
A328E |
probably benign |
Het |
| Ssc4d |
C |
A |
5: 135,999,170 (GRCm39) |
W11L |
possibly damaging |
Het |
| Sycp2 |
C |
A |
2: 178,022,720 (GRCm39) |
M470I |
possibly damaging |
Het |
| Tfap2c |
A |
T |
2: 172,398,110 (GRCm39) |
S413C |
probably damaging |
Het |
| Unc13c |
A |
G |
9: 73,441,188 (GRCm39) |
|
probably null |
Het |
| Vmn1r218 |
T |
C |
13: 23,320,971 (GRCm39) |
V26A |
possibly damaging |
Het |
| Wiz |
T |
C |
17: 32,578,198 (GRCm39) |
E429G |
probably damaging |
Het |
| Zer1 |
T |
C |
2: 29,997,535 (GRCm39) |
N457S |
probably damaging |
Het |
| Zfp931 |
T |
A |
2: 177,709,777 (GRCm39) |
Q203L |
possibly damaging |
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 |
|
R2246:Wipf3
|
UTSW |
6 |
54,466,058 (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 |
|
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'- ATGTCCCAGACAGAGAAGTGTG -3'
(R):5'- CATGGGTCACAAATGCAGACC -3'
Sequencing Primer
(F):5'- AGATAATGGTATGAAGTTCCTGGCC -3'
(R):5'- ACCAGCTAGGGTTGAGTCTGAC -3'
|
| Posted On |
2015-04-30 |
Incidental Mutation