Incidental Mutation 'IGL02312:Hunk'
| ID |
287859 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Hunk
|
| Ensembl Gene |
ENSMUSG00000053414 |
| Gene Name |
hormonally upregulated Neu-associated kinase |
| Synonyms |
Mak-v, Bstk1 |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL02312
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
16 |
| Chromosomal Location |
90182901-90296441 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 90272829 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Histidine
at position 302
(Y302H)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000156104
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000065856]
[ENSMUST00000231719]
|
| AlphaFold |
O88866 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000065856
AA Change: Y378H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000068007
Gene: ENSMUSG00000053414
AA Change: Y378H
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
2 |
24 |
N/A |
INTRINSIC |
|
S_TKc
|
62 |
320 |
8.72e-97 |
SMART |
|
low complexity region
|
521 |
534 |
N/A |
INTRINSIC |
|
low complexity region
|
599 |
615 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000231603
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000231719
AA Change: Y302H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
PHENOTYPE: Mutations in this gene result in no abnormal phenotype, however in combination with Tg(MMTV-Myc)Led mice, metastatic potential of mammary tumors is decreased. [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 |
|---|
| Adamts19 |
T |
A |
18: 59,060,369 (GRCm39) |
V454E |
probably damaging |
Het |
| Atp7b |
G |
T |
8: 22,484,786 (GRCm39) |
Q1424K |
probably damaging |
Het |
| Bicra |
T |
C |
7: 15,727,066 (GRCm39) |
D30G |
possibly damaging |
Het |
| Cdhr2 |
A |
G |
13: 54,865,701 (GRCm39) |
D233G |
probably null |
Het |
| Clint1 |
C |
T |
11: 45,784,883 (GRCm39) |
T294M |
probably damaging |
Het |
| Cntnap5c |
C |
T |
17: 58,445,694 (GRCm39) |
T578I |
probably benign |
Het |
| Col12a1 |
G |
T |
9: 79,588,797 (GRCm39) |
T1106N |
probably damaging |
Het |
| Csta3 |
A |
G |
16: 36,030,847 (GRCm39) |
|
probably benign |
Het |
| Dnah10 |
A |
G |
5: 124,896,430 (GRCm39) |
Y3598C |
probably damaging |
Het |
| Dnaja3 |
A |
G |
16: 4,512,300 (GRCm39) |
T235A |
probably benign |
Het |
| Eif2s1 |
T |
C |
12: 78,926,790 (GRCm39) |
I180T |
probably damaging |
Het |
| Ergic1 |
C |
A |
17: 26,848,601 (GRCm39) |
P108Q |
probably damaging |
Het |
| Fat2 |
T |
A |
11: 55,161,085 (GRCm39) |
D3215V |
probably damaging |
Het |
| Galnt17 |
A |
T |
5: 131,335,371 (GRCm39) |
I23N |
probably benign |
Het |
| Gpr20 |
C |
T |
15: 73,568,275 (GRCm39) |
R38Q |
probably benign |
Het |
| Grin2b |
T |
C |
6: 135,716,088 (GRCm39) |
D743G |
probably damaging |
Het |
| H2-T5 |
T |
C |
17: 36,476,299 (GRCm39) |
I350V |
probably benign |
Het |
| Hmbs |
A |
G |
9: 44,252,510 (GRCm39) |
|
probably null |
Het |
| Mybph |
A |
T |
1: 134,125,188 (GRCm39) |
I239F |
probably damaging |
Het |
| Ncoa3 |
G |
A |
2: 165,899,120 (GRCm39) |
A821T |
probably benign |
Het |
| Nf1 |
A |
G |
11: 79,335,474 (GRCm39) |
I979V |
possibly damaging |
Het |
| Or5w14 |
T |
C |
2: 87,541,353 (GRCm39) |
E299G |
probably benign |
Het |
| Or7h8 |
A |
T |
9: 20,124,377 (GRCm39) |
H244L |
probably damaging |
Het |
| Pdilt |
G |
A |
7: 119,118,890 (GRCm39) |
T53M |
probably benign |
Het |
| Pdlim1 |
T |
C |
19: 40,211,505 (GRCm39) |
T263A |
probably benign |
Het |
| Pik3cg |
A |
T |
12: 32,244,820 (GRCm39) |
M878K |
possibly damaging |
Het |
| Plod1 |
T |
C |
4: 148,010,614 (GRCm39) |
K279R |
probably benign |
Het |
| Plxna4 |
T |
C |
6: 32,142,052 (GRCm39) |
T1602A |
possibly damaging |
Het |
| Rb1cc1 |
T |
A |
1: 6,335,847 (GRCm39) |
|
probably null |
Het |
| Rnls |
G |
A |
19: 33,145,783 (GRCm39) |
T112I |
probably benign |
Het |
| Ropn1 |
G |
A |
16: 34,497,647 (GRCm39) |
V180I |
probably benign |
Het |
| Rptor |
T |
C |
11: 119,737,741 (GRCm39) |
Y605H |
possibly damaging |
Het |
| Sidt2 |
T |
C |
9: 45,858,299 (GRCm39) |
Y80C |
probably benign |
Het |
| Slit1 |
A |
T |
19: 41,590,119 (GRCm39) |
V1389E |
possibly damaging |
Het |
| Spz1 |
G |
A |
13: 92,712,393 (GRCm39) |
P28S |
probably benign |
Het |
| Sult1c2 |
T |
A |
17: 54,269,458 (GRCm39) |
M257L |
probably benign |
Het |
| Tent2 |
C |
T |
13: 93,312,041 (GRCm39) |
V220I |
probably benign |
Het |
| Tm2d3 |
T |
C |
7: 65,348,917 (GRCm39) |
|
probably null |
Het |
| Uqcr10 |
T |
C |
11: 4,654,153 (GRCm39) |
|
probably null |
Het |
|
| Other mutations in Hunk |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02850:Hunk
|
APN |
16 |
90,229,460 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0067:Hunk
|
UTSW |
16 |
90,244,200 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0436:Hunk
|
UTSW |
16 |
90,261,042 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1385:Hunk
|
UTSW |
16 |
90,269,374 (GRCm39) |
missense |
possibly damaging |
0.61 |
|
R1392:Hunk
|
UTSW |
16 |
90,269,352 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1392:Hunk
|
UTSW |
16 |
90,269,352 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1487:Hunk
|
UTSW |
16 |
90,183,525 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1707:Hunk
|
UTSW |
16 |
90,183,295 (GRCm39) |
start gained |
probably benign |
|
|
R1781:Hunk
|
UTSW |
16 |
90,229,448 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2063:Hunk
|
UTSW |
16 |
90,290,368 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2066:Hunk
|
UTSW |
16 |
90,278,133 (GRCm39) |
splice site |
probably null |
|
|
R2101:Hunk
|
UTSW |
16 |
90,229,388 (GRCm39) |
splice site |
probably null |
|
|
R2144:Hunk
|
UTSW |
16 |
90,229,420 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2213:Hunk
|
UTSW |
16 |
90,229,505 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4444:Hunk
|
UTSW |
16 |
90,229,679 (GRCm39) |
missense |
probably benign |
0.07 |
|
R4646:Hunk
|
UTSW |
16 |
90,272,791 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4661:Hunk
|
UTSW |
16 |
90,244,196 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R4834:Hunk
|
UTSW |
16 |
90,293,086 (GRCm39) |
missense |
probably benign |
0.05 |
|
R5094:Hunk
|
UTSW |
16 |
90,293,554 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5766:Hunk
|
UTSW |
16 |
90,250,627 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5809:Hunk
|
UTSW |
16 |
90,272,791 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6189:Hunk
|
UTSW |
16 |
90,284,769 (GRCm39) |
missense |
probably benign |
|
|
R6194:Hunk
|
UTSW |
16 |
90,293,283 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6235:Hunk
|
UTSW |
16 |
90,229,594 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6468:Hunk
|
UTSW |
16 |
90,290,320 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R6835:Hunk
|
UTSW |
16 |
90,269,412 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7127:Hunk
|
UTSW |
16 |
90,272,779 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7329:Hunk
|
UTSW |
16 |
90,183,570 (GRCm39) |
missense |
probably benign |
0.37 |
|
R7331:Hunk
|
UTSW |
16 |
90,269,450 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
R7473:Hunk
|
UTSW |
16 |
90,250,588 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7719:Hunk
|
UTSW |
16 |
90,293,554 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7827:Hunk
|
UTSW |
16 |
90,278,214 (GRCm39) |
missense |
possibly damaging |
0.58 |
|
R7894:Hunk
|
UTSW |
16 |
90,269,353 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8467:Hunk
|
UTSW |
16 |
90,293,508 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8701:Hunk
|
UTSW |
16 |
90,183,498 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9626:Hunk
|
UTSW |
16 |
90,272,791 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1176:Hunk
|
UTSW |
16 |
90,269,461 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1177:Hunk
|
UTSW |
16 |
90,278,209 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
| Posted On |
2015-04-16 |
Incidental Mutation