Incidental Mutation 'R7006:Wipf1'
| ID |
544705 |
| 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 |
045011-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.153)
|
| Stock # |
R7006 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
2 |
| Chromosomal Location |
73259954-73359831 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 73267441 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 319
(D319G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000099741
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000094681]
[ENSMUST00000102679]
[ENSMUST00000102680]
[ENSMUST00000141264]
|
| AlphaFold |
Q8K1I7 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000094681
AA Change: D319G
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000092268
Gene: ENSMUSG00000075284
AA Change: D319G
| 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 |
probably damaging
Transcript: ENSMUST00000102679
AA Change: D319G
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000099740
Gene: ENSMUSG00000075284
AA Change: D319G
| 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 |
probably damaging
Transcript: ENSMUST00000102680
AA Change: D319G
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000099741
Gene: ENSMUSG00000075284
AA Change: D319G
| 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 |
probably benign
Transcript: ENSMUST00000141264
|
| SMART Domains |
Protein: ENSMUSP00000119190
Gene: ENSMUSG00000075284
| 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 |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.0%
|
| Validation Efficiency |
|
| 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: 45 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| AAdacl4fm3 |
A |
G |
4: 144,447,853 (GRCm39) |
V41A |
probably benign |
Het |
| Adcy2 |
G |
A |
13: 69,036,139 (GRCm39) |
T174M |
probably damaging |
Het |
| Ankfy1 |
T |
A |
11: 72,631,290 (GRCm39) |
I412N |
probably benign |
Het |
| AW146154 |
T |
C |
7: 41,130,648 (GRCm39) |
E156G |
possibly damaging |
Het |
| B4galnt1 |
T |
C |
10: 127,005,700 (GRCm39) |
L267P |
probably benign |
Het |
| Bod1l |
T |
C |
5: 41,989,895 (GRCm39) |
E276G |
probably damaging |
Het |
| Ccdc187 |
T |
C |
2: 26,171,102 (GRCm39) |
T459A |
probably benign |
Het |
| Ccdc196 |
T |
A |
12: 78,255,702 (GRCm39) |
*177R |
probably null |
Het |
| Cep72 |
G |
A |
13: 74,198,427 (GRCm39) |
Q311* |
probably null |
Het |
| Cir1 |
T |
C |
2: 73,140,834 (GRCm39) |
Q45R |
probably damaging |
Het |
| Ciz1 |
T |
C |
2: 32,261,127 (GRCm39) |
|
probably null |
Het |
| Crtap |
G |
T |
9: 114,215,391 (GRCm39) |
A166E |
probably damaging |
Het |
| Dipk1a |
A |
G |
5: 108,058,027 (GRCm39) |
V132A |
probably benign |
Het |
| Dmp1 |
A |
G |
5: 104,360,188 (GRCm39) |
D288G |
probably benign |
Het |
| Fhad1 |
CGG |
CG |
4: 141,645,602 (GRCm39) |
|
probably null |
Het |
| Fmnl2 |
C |
A |
2: 52,998,266 (GRCm39) |
Q544K |
probably benign |
Het |
| Gpsm1 |
T |
C |
2: 26,212,572 (GRCm39) |
L72P |
probably damaging |
Het |
| Gys1 |
G |
A |
7: 45,089,437 (GRCm39) |
A199T |
probably damaging |
Het |
| Kcnq3 |
A |
C |
15: 65,892,165 (GRCm39) |
Y403* |
probably null |
Het |
| Kcp |
A |
C |
6: 29,499,169 (GRCm39) |
Y298D |
probably damaging |
Het |
| Kif5c |
T |
C |
2: 49,625,526 (GRCm39) |
S599P |
probably damaging |
Het |
| Krt20 |
A |
T |
11: 99,328,587 (GRCm39) |
Y113N |
probably benign |
Het |
| Mcm8 |
T |
G |
2: 132,665,181 (GRCm39) |
V191G |
probably damaging |
Het |
| Msr1 |
T |
A |
8: 40,042,423 (GRCm39) |
D384V |
probably damaging |
Het |
| Mtpap |
A |
C |
18: 4,380,873 (GRCm39) |
S184R |
possibly damaging |
Het |
| Npc1l1 |
G |
A |
11: 6,167,731 (GRCm39) |
T1020M |
probably benign |
Het |
| Nphp4 |
A |
G |
4: 152,573,259 (GRCm39) |
T66A |
probably benign |
Het |
| Or1o3 |
T |
A |
17: 37,573,625 (GRCm39) |
*310L |
probably null |
Het |
| Or4f14 |
C |
A |
2: 111,742,601 (GRCm39) |
V225L |
probably benign |
Het |
| Or8h10 |
G |
A |
2: 86,808,303 (GRCm39) |
T279I |
probably damaging |
Het |
| Or8k18 |
T |
A |
2: 86,085,572 (GRCm39) |
Q155L |
probably benign |
Het |
| Phf11d |
G |
T |
14: 59,590,823 (GRCm39) |
T178K |
probably benign |
Het |
| Ppm1d |
A |
G |
11: 85,227,977 (GRCm39) |
K298E |
possibly damaging |
Het |
| Rab2b |
A |
T |
14: 52,503,690 (GRCm39) |
I144K |
probably benign |
Het |
| Stoml1 |
A |
G |
9: 58,167,523 (GRCm39) |
D5G |
probably damaging |
Het |
| Styxl2 |
T |
C |
1: 165,926,663 (GRCm39) |
N983S |
probably benign |
Het |
| Tanc1 |
T |
C |
2: 59,626,188 (GRCm39) |
V515A |
probably damaging |
Het |
| Tas1r3 |
A |
G |
4: 155,947,361 (GRCm39) |
V108A |
possibly damaging |
Het |
| Tifab |
T |
C |
13: 56,324,059 (GRCm39) |
Y128C |
probably benign |
Het |
| Tmc6 |
G |
T |
11: 117,665,083 (GRCm39) |
R397S |
probably damaging |
Het |
| Tnpo3 |
C |
T |
6: 29,589,162 (GRCm39) |
A63T |
probably damaging |
Het |
| Trgc4 |
T |
A |
13: 19,528,995 (GRCm39) |
|
probably benign |
Het |
| Usp16 |
G |
T |
16: 87,268,724 (GRCm39) |
C284F |
probably damaging |
Het |
| Xpnpep3 |
T |
A |
15: 81,326,649 (GRCm39) |
W347R |
probably damaging |
Het |
| Zfp180 |
G |
T |
7: 23,804,537 (GRCm39) |
E319* |
probably null |
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 |
|
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 |
|
R8136: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'- TTAGAGAGGTGACATCCCCG -3'
(R):5'- AACCGAGGTGCTGCTTTTG -3'
Sequencing Primer
(F):5'- GCGTTGCCATACCTGATCTG -3'
(R):5'- AAGCCGAGCCTTGGATGAC -3'
|
| Posted On |
2019-05-13 |
Incidental Mutation