Incidental Mutation 'R6336:Whamm'
| ID |
510759 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Whamm
|
| Ensembl Gene |
ENSMUSG00000045795 |
| Gene Name |
WAS protein homolog associated with actin, golgi membranes and microtubules |
| Synonyms |
Whdc1 |
| MMRRC Submission |
044490-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R6336 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
81221014-81246584 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 81241512 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 274
(D274E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000146854
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000165460]
[ENSMUST00000207123]
[ENSMUST00000209044]
|
| AlphaFold |
Q571B6 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000165460
AA Change: D480E
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000128881
Gene: ENSMUSG00000045795
AA Change: D480E
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:WHAMM-JMY_N
|
5 |
54 |
1.1e-30 |
PFAM |
|
Pfam:JMY
|
67 |
435 |
1.3e-157 |
PFAM |
|
coiled coil region
|
448 |
470 |
N/A |
INTRINSIC |
|
low complexity region
|
509 |
522 |
N/A |
INTRINSIC |
|
low complexity region
|
631 |
656 |
N/A |
INTRINSIC |
|
WH2
|
698 |
716 |
5.69e2 |
SMART |
|
WH2
|
728 |
745 |
6.26e-2 |
SMART |
|
coiled coil region
|
758 |
785 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000207123
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000208537
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000209044
AA Change: D274E
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Meta Mutation Damage Score |
0.0635 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.4%
- 20x: 98.0%
|
| Validation Efficiency |
98% (45/46) |
| 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 a role in actin nucleation, Golgi membrane association and microtubule binding. The encoded protein is a nucleation-promoting factor that regulates the Actin-related protein 2/3 complex. The activated complex initiates growth of new actin filaments by binding to existing actin filaments. The encoded protein also functions in regulation of transport from the endoplasmic reticulum to the Golgi complex and in maintenance of the Golgi complex near the centrosome. Four pseudogenes of this gene are present on the same arm of chromosome 15 as this gene. [provided by RefSeq, Aug 2013]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 48 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2900026A02Rik |
G |
T |
5: 113,331,349 (GRCm39) |
P955Q |
possibly damaging |
Het |
| Adgrv1 |
T |
C |
13: 81,534,100 (GRCm39) |
N5827S |
probably benign |
Het |
| Akt3 |
T |
C |
1: 176,859,278 (GRCm39) |
D431G |
probably damaging |
Het |
| Anapc16 |
A |
T |
10: 59,824,651 (GRCm39) |
V76D |
possibly damaging |
Het |
| Ankib1 |
A |
T |
5: 3,750,377 (GRCm39) |
Y755* |
probably null |
Het |
| Ankrd6 |
A |
G |
4: 32,860,411 (GRCm39) |
S11P |
probably damaging |
Het |
| Card6 |
T |
A |
15: 5,128,646 (GRCm39) |
K917* |
probably null |
Het |
| Ccdc152 |
T |
C |
15: 3,330,611 (GRCm39) |
I21M |
probably damaging |
Het |
| Ccdc40 |
A |
G |
11: 119,122,819 (GRCm39) |
E207G |
possibly damaging |
Het |
| Clca3a2 |
G |
T |
3: 144,512,239 (GRCm39) |
A499E |
probably benign |
Het |
| Cntnap5b |
C |
T |
1: 100,286,394 (GRCm39) |
A383V |
probably benign |
Het |
| Ddo |
T |
C |
10: 40,509,027 (GRCm39) |
V89A |
probably damaging |
Het |
| Depdc5 |
T |
C |
5: 33,121,851 (GRCm39) |
176 |
probably null |
Het |
| Dlgap1 |
T |
A |
17: 71,122,284 (GRCm39) |
D904E |
probably damaging |
Het |
| Ephb4 |
T |
A |
5: 137,370,347 (GRCm39) |
L849H |
probably damaging |
Het |
| Fbxl13 |
A |
G |
5: 21,728,545 (GRCm39) |
|
probably null |
Het |
| Fer1l6 |
C |
A |
15: 58,431,081 (GRCm39) |
Y245* |
probably null |
Het |
| Foxred2 |
A |
G |
15: 77,839,964 (GRCm39) |
Y109H |
probably damaging |
Het |
| Gabarapl1 |
A |
G |
6: 129,514,491 (GRCm39) |
D43G |
probably benign |
Het |
| Gabrb1 |
A |
C |
5: 72,187,241 (GRCm39) |
E178A |
possibly damaging |
Het |
| Gbp11 |
A |
G |
5: 105,473,355 (GRCm39) |
|
|
Het |
| Grin3b |
C |
A |
10: 79,812,295 (GRCm39) |
A845E |
probably damaging |
Het |
| Hoxd4 |
A |
G |
2: 74,557,705 (GRCm39) |
Y28C |
probably damaging |
Het |
| Igsf10 |
G |
A |
3: 59,237,760 (GRCm39) |
T807M |
probably benign |
Het |
| Kcnt1 |
A |
G |
2: 25,778,767 (GRCm39) |
|
probably null |
Het |
| Kdm5a |
C |
A |
6: 120,375,939 (GRCm39) |
T565K |
probably damaging |
Het |
| Map7d1 |
A |
G |
4: 126,130,475 (GRCm39) |
S412P |
probably damaging |
Het |
| Mok |
A |
G |
12: 110,800,558 (GRCm39) |
|
probably null |
Het |
| Mto1 |
A |
T |
9: 78,381,117 (GRCm39) |
I73F |
probably damaging |
Het |
| Mtss2 |
G |
A |
8: 111,458,796 (GRCm39) |
D310N |
probably damaging |
Het |
| Ncf2 |
T |
C |
1: 152,709,821 (GRCm39) |
Y393H |
probably damaging |
Het |
| Or13c25 |
A |
T |
4: 52,911,459 (GRCm39) |
C112S |
probably damaging |
Het |
| Or2f1b |
T |
C |
6: 42,739,591 (GRCm39) |
S202P |
probably damaging |
Het |
| Or2y14 |
G |
T |
11: 49,405,369 (GRCm39) |
K301N |
probably damaging |
Het |
| Or4f47 |
A |
C |
2: 111,972,751 (GRCm39) |
I154L |
probably benign |
Het |
| Or4k49 |
A |
G |
2: 111,494,964 (GRCm39) |
H131R |
possibly damaging |
Het |
| Or52z1 |
T |
C |
7: 103,437,452 (GRCm39) |
T11A |
possibly damaging |
Het |
| Phxr2 |
T |
A |
10: 98,961,952 (GRCm39) |
|
probably benign |
Het |
| Potefam3f |
A |
G |
8: 20,499,951 (GRCm39) |
K242E |
unknown |
Het |
| Rnf17 |
A |
G |
14: 56,658,626 (GRCm39) |
|
probably null |
Het |
| Serpinb9d |
T |
C |
13: 33,378,677 (GRCm39) |
M41T |
probably damaging |
Het |
| Slc12a5 |
T |
A |
2: 164,834,384 (GRCm39) |
|
probably null |
Het |
| Slc22a6 |
G |
A |
19: 8,599,494 (GRCm39) |
R331H |
probably benign |
Het |
| Spg11 |
G |
C |
2: 121,943,440 (GRCm39) |
|
probably null |
Het |
| Src |
T |
A |
2: 157,299,075 (GRCm39) |
V24E |
probably benign |
Het |
| Srgap1 |
A |
T |
10: 121,761,846 (GRCm39) |
Y101N |
probably benign |
Het |
| Vmn2r30 |
T |
A |
7: 7,337,307 (GRCm39) |
T110S |
probably benign |
Het |
| Vwa3a |
A |
G |
7: 120,361,646 (GRCm39) |
E119G |
possibly damaging |
Het |
|
| Other mutations in Whamm |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00597:Whamm
|
APN |
7 |
81,228,014 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01139:Whamm
|
APN |
7 |
81,245,662 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01870:Whamm
|
APN |
7 |
81,245,722 (GRCm39) |
missense |
probably damaging |
0.96 |
|
IGL03153:Whamm
|
APN |
7 |
81,239,280 (GRCm39) |
splice site |
probably benign |
|
|
R0179:Whamm
|
UTSW |
7 |
81,243,763 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0364:Whamm
|
UTSW |
7 |
81,243,799 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0550:Whamm
|
UTSW |
7 |
81,235,972 (GRCm39) |
missense |
possibly damaging |
0.55 |
|
R0682:Whamm
|
UTSW |
7 |
81,235,886 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1388:Whamm
|
UTSW |
7 |
81,236,038 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1940:Whamm
|
UTSW |
7 |
81,228,047 (GRCm39) |
missense |
probably null |
0.94 |
|
R1991:Whamm
|
UTSW |
7 |
81,241,519 (GRCm39) |
nonsense |
probably null |
|
|
R1992:Whamm
|
UTSW |
7 |
81,241,519 (GRCm39) |
nonsense |
probably null |
|
|
R2103:Whamm
|
UTSW |
7 |
81,241,519 (GRCm39) |
nonsense |
probably null |
|
|
R2104:Whamm
|
UTSW |
7 |
81,241,519 (GRCm39) |
nonsense |
probably null |
|
|
R2162:Whamm
|
UTSW |
7 |
81,221,089 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2291:Whamm
|
UTSW |
7 |
81,241,519 (GRCm39) |
nonsense |
probably null |
|
|
R3078:Whamm
|
UTSW |
7 |
81,221,532 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4735:Whamm
|
UTSW |
7 |
81,221,122 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6723:Whamm
|
UTSW |
7 |
81,245,868 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6747:Whamm
|
UTSW |
7 |
81,228,050 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7029:Whamm
|
UTSW |
7 |
81,241,574 (GRCm39) |
missense |
probably benign |
0.09 |
|
R7286:Whamm
|
UTSW |
7 |
81,235,995 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7525:Whamm
|
UTSW |
7 |
81,243,598 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7732:Whamm
|
UTSW |
7 |
81,221,172 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8348:Whamm
|
UTSW |
7 |
81,224,295 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R8448:Whamm
|
UTSW |
7 |
81,224,295 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R8769:Whamm
|
UTSW |
7 |
81,234,933 (GRCm39) |
nonsense |
probably null |
|
|
R8890:Whamm
|
UTSW |
7 |
81,243,640 (GRCm39) |
missense |
probably benign |
0.39 |
|
R9226:Whamm
|
UTSW |
7 |
81,243,655 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9431:Whamm
|
UTSW |
7 |
81,236,035 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9436:Whamm
|
UTSW |
7 |
81,221,063 (GRCm39) |
unclassified |
probably benign |
|
|
| Predicted Primers |
PCR Primer
(F):5'- TCTCAACACACTCCATTGGG -3'
(R):5'- CCTTGTAAAATGCCCATAATTCCAC -3'
Sequencing Primer
(F):5'- TGGGAACAAATGGCACCTGTG -3'
(R):5'- TGTATTCACAAGGAAAGGAGACCCAC -3'
|
| Posted On |
2018-04-02 |
Incidental Mutation