Incidental Mutation 'R8136:Wipf1'
ID |
632243 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Wipf1
|
Ensembl Gene |
ENSMUSG00000075284 |
Gene Name |
WAS/WASL interacting protein family, member 1 |
Synonyms |
Waspip, WIP, D2Ertd120e |
MMRRC Submission |
067564-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.153)
|
Stock # |
R8136 (G1)
|
Quality Score |
210.009 |
Status
|
Validated
|
Chromosome |
2 |
Chromosomal Location |
73259954-73359831 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to A
at 73267879 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Proline to Leucine
at position 173
(P173L)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000092268
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000094681]
[ENSMUST00000102679]
[ENSMUST00000102680]
[ENSMUST00000141264]
|
AlphaFold |
Q8K1I7 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000094681
AA Change: P173L
PolyPhen 2
Score 0.670 (Sensitivity: 0.86; Specificity: 0.91)
|
SMART Domains |
Protein: ENSMUSP00000092268 Gene: ENSMUSG00000075284 AA Change: P173L
Domain | Start | End | E-Value | Type |
low complexity region
|
2 |
13 |
N/A |
INTRINSIC |
WH2
|
32 |
49 |
9.78e-4 |
SMART |
low complexity region
|
64 |
108 |
N/A |
INTRINSIC |
low complexity region
|
141 |
157 |
N/A |
INTRINSIC |
low complexity region
|
162 |
175 |
N/A |
INTRINSIC |
low complexity region
|
185 |
196 |
N/A |
INTRINSIC |
low complexity region
|
232 |
249 |
N/A |
INTRINSIC |
low complexity region
|
274 |
317 |
N/A |
INTRINSIC |
low complexity region
|
329 |
374 |
N/A |
INTRINSIC |
low complexity region
|
398 |
424 |
N/A |
INTRINSIC |
PDB:2IFS|A
|
441 |
470 |
1e-11 |
PDB |
low complexity region
|
471 |
484 |
N/A |
INTRINSIC |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000102679
AA Change: P173L
PolyPhen 2
Score 0.670 (Sensitivity: 0.86; Specificity: 0.91)
|
SMART Domains |
Protein: ENSMUSP00000099740 Gene: ENSMUSG00000075284 AA Change: P173L
Domain | Start | End | E-Value | Type |
low complexity region
|
2 |
13 |
N/A |
INTRINSIC |
WH2
|
32 |
49 |
9.78e-4 |
SMART |
low complexity region
|
64 |
108 |
N/A |
INTRINSIC |
low complexity region
|
141 |
157 |
N/A |
INTRINSIC |
low complexity region
|
162 |
175 |
N/A |
INTRINSIC |
low complexity region
|
185 |
196 |
N/A |
INTRINSIC |
low complexity region
|
232 |
249 |
N/A |
INTRINSIC |
low complexity region
|
274 |
317 |
N/A |
INTRINSIC |
low complexity region
|
329 |
374 |
N/A |
INTRINSIC |
low complexity region
|
398 |
424 |
N/A |
INTRINSIC |
PDB:2IFS|A
|
441 |
470 |
1e-11 |
PDB |
low complexity region
|
471 |
484 |
N/A |
INTRINSIC |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000102680
AA Change: P173L
PolyPhen 2
Score 0.670 (Sensitivity: 0.86; Specificity: 0.91)
|
SMART Domains |
Protein: ENSMUSP00000099741 Gene: ENSMUSG00000075284 AA Change: P173L
Domain | Start | End | E-Value | Type |
low complexity region
|
2 |
13 |
N/A |
INTRINSIC |
WH2
|
32 |
49 |
9.78e-4 |
SMART |
low complexity region
|
64 |
108 |
N/A |
INTRINSIC |
low complexity region
|
141 |
157 |
N/A |
INTRINSIC |
low complexity region
|
162 |
175 |
N/A |
INTRINSIC |
low complexity region
|
185 |
196 |
N/A |
INTRINSIC |
low complexity region
|
232 |
249 |
N/A |
INTRINSIC |
low complexity region
|
274 |
317 |
N/A |
INTRINSIC |
low complexity region
|
329 |
374 |
N/A |
INTRINSIC |
low complexity region
|
398 |
424 |
N/A |
INTRINSIC |
PDB:2IFS|A
|
441 |
470 |
1e-11 |
PDB |
low complexity region
|
471 |
484 |
N/A |
INTRINSIC |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000141264
AA Change: P173L
PolyPhen 2
Score 0.670 (Sensitivity: 0.86; Specificity: 0.91)
|
SMART Domains |
Protein: ENSMUSP00000119190 Gene: ENSMUSG00000075284 AA Change: P173L
Domain | Start | End | E-Value | Type |
low complexity region
|
2 |
13 |
N/A |
INTRINSIC |
WH2
|
32 |
49 |
9.78e-4 |
SMART |
low complexity region
|
64 |
108 |
N/A |
INTRINSIC |
low complexity region
|
141 |
157 |
N/A |
INTRINSIC |
low complexity region
|
162 |
175 |
N/A |
INTRINSIC |
low complexity region
|
185 |
196 |
N/A |
INTRINSIC |
|
Meta Mutation Damage Score |
0.0737 |
Coding Region Coverage |
- 1x: 99.8%
- 3x: 99.6%
- 10x: 98.9%
- 20x: 96.7%
|
Validation Efficiency |
98% (40/41) |
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein that plays an important role in the organization of the actin cytoskeleton. The encoded protein binds to a region of Wiskott-Aldrich syndrome protein that is frequently mutated in Wiskott-Aldrich syndrome, an X-linked recessive disorder. Impairment of the interaction between these two proteins may contribute to the disease. Two transcript variants encoding the same protein have been identified for this gene. [provided by RefSeq, Jul 2008] PHENOTYPE: Homozygous mutants have immunological abnormalities, although lymphocyte development appears normal. Mutants show abnormal B and T cell proliferative responses, high serum immunoglobulin levels and impaired immunological synapse formation. [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 |
Abca12 |
T |
A |
1: 71,287,556 (GRCm39) |
M2462L |
probably benign |
Het |
Aptx |
A |
G |
4: 40,688,107 (GRCm39) |
|
probably null |
Het |
Bmpr1b |
A |
G |
3: 141,562,143 (GRCm39) |
I348T |
probably damaging |
Het |
Btnl1 |
T |
A |
17: 34,599,014 (GRCm39) |
|
probably null |
Het |
Col27a1 |
T |
A |
4: 63,202,190 (GRCm39) |
D960E |
probably benign |
Het |
Crygn |
G |
T |
5: 24,956,090 (GRCm39) |
R172S |
probably benign |
Het |
Cyp26a1 |
T |
C |
19: 37,689,654 (GRCm39) |
I450T |
probably benign |
Het |
Emc2 |
A |
G |
15: 43,375,202 (GRCm39) |
Y233C |
probably benign |
Het |
Esyt2 |
C |
A |
12: 116,327,079 (GRCm39) |
T549K |
probably benign |
Het |
Garin5a |
T |
C |
7: 44,149,704 (GRCm39) |
F142L |
probably damaging |
Het |
Gatm |
T |
C |
2: 122,426,018 (GRCm39) |
D411G |
probably damaging |
Het |
Gpr65 |
T |
C |
12: 98,241,415 (GRCm39) |
Y23H |
probably damaging |
Het |
Itpr1 |
A |
G |
6: 108,415,321 (GRCm39) |
R1752G |
probably benign |
Het |
Krtap4-1 |
GGCAGCAGGGGCTGCAGCAAGGGCTGCAGCAGGGGC |
GGCAGCAGGGGCTGCAGCAAGGGCTGCAGCAGGGGCTGCAGCAAGGGCTGCAGCAGGGGC |
11: 99,518,660 (GRCm39) |
|
probably benign |
Het |
Map3k19 |
A |
C |
1: 127,751,492 (GRCm39) |
S620A |
probably damaging |
Het |
Mcm9 |
A |
G |
10: 53,487,439 (GRCm39) |
*543Q |
probably null |
Het |
Mfsd2a |
A |
T |
4: 122,845,660 (GRCm39) |
C164S |
probably benign |
Het |
Mta1 |
C |
A |
12: 113,095,298 (GRCm39) |
R484S |
probably damaging |
Het |
Nlrp9a |
T |
G |
7: 26,256,678 (GRCm39) |
F99V |
probably benign |
Het |
Notch2 |
G |
A |
3: 98,031,537 (GRCm39) |
C1137Y |
probably damaging |
Het |
Or51a6 |
A |
T |
7: 102,604,448 (GRCm39) |
M120K |
probably damaging |
Het |
Pcnx1 |
A |
G |
12: 81,964,780 (GRCm39) |
T316A |
probably benign |
Het |
Peds1 |
A |
C |
2: 167,486,879 (GRCm39) |
Y167D |
probably benign |
Het |
Phf11a |
A |
G |
14: 59,515,018 (GRCm39) |
V221A |
probably benign |
Het |
Pigb |
A |
G |
9: 72,929,602 (GRCm39) |
L327P |
possibly damaging |
Het |
Rab3c |
A |
T |
13: 110,317,554 (GRCm39) |
Y110* |
probably null |
Het |
Sdk2 |
G |
A |
11: 113,742,539 (GRCm39) |
T790M |
probably damaging |
Het |
Skic3 |
A |
G |
13: 76,261,222 (GRCm39) |
K131R |
probably benign |
Het |
Slc22a2 |
C |
T |
17: 12,824,917 (GRCm39) |
P260S |
probably damaging |
Het |
Sppl2a |
T |
C |
2: 126,755,201 (GRCm39) |
|
probably null |
Het |
Tnn |
T |
A |
1: 159,934,630 (GRCm39) |
Q1261L |
probably damaging |
Het |
Treml4 |
C |
A |
17: 48,571,745 (GRCm39) |
Y49* |
probably null |
Het |
Ubr3 |
T |
C |
2: 69,851,523 (GRCm39) |
I1827T |
probably damaging |
Het |
Vrtn |
C |
T |
12: 84,696,809 (GRCm39) |
R520C |
probably damaging |
Het |
Wls |
C |
A |
3: 159,578,761 (GRCm39) |
Q108K |
probably damaging |
Het |
Zfp217 |
G |
A |
2: 169,961,571 (GRCm39) |
S252F |
possibly damaging |
Het |
Zfp39 |
A |
T |
11: 58,782,228 (GRCm39) |
V178D |
probably damaging |
Het |
Zfp777 |
C |
A |
6: 48,021,559 (GRCm39) |
R21L |
probably benign |
Het |
|
Other mutations in Wipf1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01634:Wipf1
|
APN |
2 |
73,278,225 (GRCm39) |
missense |
unknown |
|
IGL02391:Wipf1
|
APN |
2 |
73,264,487 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02992:Wipf1
|
APN |
2 |
73,264,427 (GRCm39) |
missense |
probably damaging |
1.00 |
PIT1430001:Wipf1
|
UTSW |
2 |
73,267,946 (GRCm39) |
missense |
probably damaging |
1.00 |
R1553:Wipf1
|
UTSW |
2 |
73,267,870 (GRCm39) |
missense |
possibly damaging |
0.96 |
R1920:Wipf1
|
UTSW |
2 |
73,270,499 (GRCm39) |
missense |
probably benign |
0.11 |
R3154:Wipf1
|
UTSW |
2 |
73,267,834 (GRCm39) |
missense |
possibly damaging |
0.86 |
R3161:Wipf1
|
UTSW |
2 |
73,265,293 (GRCm39) |
missense |
probably damaging |
0.99 |
R3975:Wipf1
|
UTSW |
2 |
73,267,513 (GRCm39) |
missense |
probably benign |
0.00 |
R4996:Wipf1
|
UTSW |
2 |
73,270,418 (GRCm39) |
unclassified |
probably benign |
|
R5218:Wipf1
|
UTSW |
2 |
73,274,812 (GRCm39) |
missense |
probably damaging |
1.00 |
R6916:Wipf1
|
UTSW |
2 |
73,267,748 (GRCm39) |
missense |
probably damaging |
1.00 |
R7006:Wipf1
|
UTSW |
2 |
73,267,441 (GRCm39) |
missense |
probably damaging |
1.00 |
R7259:Wipf1
|
UTSW |
2 |
73,265,425 (GRCm39) |
missense |
probably damaging |
0.99 |
R7486:Wipf1
|
UTSW |
2 |
73,270,418 (GRCm39) |
unclassified |
probably benign |
|
R7689:Wipf1
|
UTSW |
2 |
73,262,789 (GRCm39) |
missense |
probably damaging |
0.98 |
R7712:Wipf1
|
UTSW |
2 |
73,274,805 (GRCm39) |
missense |
probably damaging |
1.00 |
R8094:Wipf1
|
UTSW |
2 |
73,267,879 (GRCm39) |
missense |
possibly damaging |
0.67 |
R8095:Wipf1
|
UTSW |
2 |
73,267,879 (GRCm39) |
missense |
possibly damaging |
0.67 |
R8120:Wipf1
|
UTSW |
2 |
73,267,879 (GRCm39) |
missense |
possibly damaging |
0.67 |
R8150:Wipf1
|
UTSW |
2 |
73,267,879 (GRCm39) |
missense |
possibly damaging |
0.67 |
R8152:Wipf1
|
UTSW |
2 |
73,267,879 (GRCm39) |
missense |
possibly damaging |
0.67 |
R9558:Wipf1
|
UTSW |
2 |
73,268,020 (GRCm39) |
missense |
probably damaging |
1.00 |
Z1177:Wipf1
|
UTSW |
2 |
73,267,708 (GRCm39) |
missense |
possibly damaging |
0.49 |
|
Predicted Primers |
PCR Primer
(F):5'- AAGGCACTGGAGGTTTGCTG -3'
(R):5'- TCAGTGCTCAGTGGGAAAGG -3'
Sequencing Primer
(F):5'- ACCGCTTCTCTGTGCATGGAG -3'
(R):5'- GGGGGCTCCTCACTTTTCAATC -3'
|
Posted On |
2020-06-30 |