Mutagenetix > Incidental Mutation

Incidental Mutation 'R7127:Hunk'

552423

Institutional Source

Beutler Lab

Gene Symbol

Hunk

Ensembl Gene

ENSMUSG00000053414

Gene Name

hormonally upregulated Neu-associated kinase

Synonyms

Mak-v, Bstk1

MMRRC Submission

045246-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7127 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

90182901-90296441 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 90272779 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 361 (D361G)

Ref Sequence

ENSEMBL: ENSMUSP00000068007 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000065856] [ENSMUST00000231719]

AlphaFold

O88866

Predicted Effect

probably damaging
Transcript: ENSMUST00000065856
AA Change: D361G

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000068007
Gene: ENSMUSG00000053414
AA Change: D361G

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

probably damaging
Transcript: ENSMUST00000231719
AA Change: D285G

PolyPhen 2 Score 0.977 (Sensitivity: 0.76; Specificity: 0.96)

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.9%

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: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca15	C	T	7: 119,931,825 (GRCm39)	T26I	probably benign	Het
Adam5	A	T	8: 25,300,797 (GRCm39)	I244N	probably damaging	Het
Adam7	A	G	14: 68,752,218 (GRCm39)		probably null	Het
Aox4	T	A	1: 58,268,033 (GRCm39)	N204K	probably benign	Het
Arl13b	C	T	16: 62,622,102 (GRCm39)	G397D	probably damaging	Het
AU041133	T	C	10: 81,986,700 (GRCm39)	F118L	probably benign	Het
Brinp1	C	T	4: 68,711,260 (GRCm39)	R316H	probably benign	Het
Cabcoco1	C	T	10: 68,272,160 (GRCm39)	V268I	probably benign	Het
Car15	T	C	16: 17,656,060 (GRCm39)		probably benign	Het
Ccdc185	G	T	1: 182,576,421 (GRCm39)	D89E	possibly damaging	Het
Cckar	T	A	5: 53,863,817 (GRCm39)	Y48F	probably damaging	Het
Cdyl	T	A	13: 36,040,651 (GRCm39)	S282T	probably benign	Het
Clca3a1	T	C	3: 144,711,806 (GRCm39)	T730A	probably damaging	Het
Cracr2b	T	C	7: 141,045,695 (GRCm39)	S318P	possibly damaging	Het
Depdc1b	T	C	13: 108,460,462 (GRCm39)	F24S	probably damaging	Het
Duox2	C	T	2: 122,122,430 (GRCm39)	G565D	probably benign	Het
Ehbp1	A	T	11: 22,003,529 (GRCm39)	Y1073*	probably null	Het
Epg5	A	T	18: 78,072,140 (GRCm39)	N2384I	probably damaging	Het
Fam171b	A	G	2: 83,710,110 (GRCm39)	D594G	probably benign	Het
Flad1	A	G	3: 89,310,725 (GRCm39)	Y441H	probably damaging	Het
Fn1	T	C	1: 71,636,703 (GRCm39)	T2150A	probably benign	Het
Fnta	C	A	8: 26,497,231 (GRCm39)	R206L	probably damaging	Het
Gadd45b	A	T	10: 80,766,999 (GRCm39)	M95L	probably benign	Het
Gbp8	A	T	5: 105,165,578 (GRCm39)	H358Q	probably benign	Het
Glipr1l3	C	A	10: 111,983,995 (GRCm39)	G157V	probably damaging	Het
Hoxc13	T	C	15: 102,829,903 (GRCm39)	I94T	possibly damaging	Het
Igkv3-4	T	A	6: 70,649,155 (GRCm39)	Y51*	probably null	Het
Kif26a	C	T	12: 112,144,579 (GRCm39)	P1611L	probably damaging	Het
Lamb1	T	C	12: 31,374,314 (GRCm39)	L1559P	probably damaging	Het
Lrrc8d	T	C	5: 105,960,829 (GRCm39)	V413A	probably damaging	Het
Med6	C	T	12: 81,635,774 (GRCm39)	R86Q	probably damaging	Het
Myrf	A	T	19: 10,192,705 (GRCm39)	S605T	probably benign	Het
Or6c66b	T	A	10: 129,376,936 (GRCm39)	C177S	probably damaging	Het
Plk3	A	T	4: 116,987,767 (GRCm39)	V429E	probably benign	Het
Plrg1	C	T	3: 82,967,222 (GRCm39)	P131L	probably damaging	Het
Plscr4	C	T	9: 92,372,831 (GRCm39)	R318*	probably null	Het
Rab34	A	T	11: 78,082,056 (GRCm39)	K152*	probably null	Het
Rasef	A	T	4: 73,662,369 (GRCm39)	S194T	probably damaging	Het
Rcc1	A	G	4: 132,062,107 (GRCm39)	S269P	probably damaging	Het
Resf1	T	C	6: 149,229,443 (GRCm39)	F830L	possibly damaging	Het
Rsf1	CGGCGGCGG	CGGCGGCGGGGGCGGCGG	7: 97,229,121 (GRCm39)		probably benign	Het
Ryr2	C	T	13: 11,670,599 (GRCm39)	V3466M	probably damaging	Het
Scin	A	G	12: 40,155,071 (GRCm39)	I174T	possibly damaging	Het
Serpinb8	A	G	1: 107,525,200 (GRCm39)	M1V	probably null	Het
Smok3c	A	T	5: 138,062,971 (GRCm39)	I153F	probably damaging	Het
Spen	G	A	4: 141,203,419 (GRCm39)	S1736L	possibly damaging	Het
Sspo	T	A	6: 48,426,446 (GRCm39)	M155K	probably benign	Het
Stip1	C	T	19: 6,999,178 (GRCm39)	G467S	possibly damaging	Het
Sun2	T	C	15: 79,612,100 (GRCm39)	I528M	probably benign	Het
Syne1	G	A	10: 5,193,180 (GRCm39)	A3956V	probably damaging	Het
Taok2	G	T	7: 126,466,326 (GRCm39)	A831E	possibly damaging	Het
Tas2r126	T	C	6: 42,411,739 (GRCm39)	F91L	probably damaging	Het
Tas2r140	A	G	6: 133,031,922 (GRCm39)	S279P	possibly damaging	Het
Tiam1	A	T	16: 89,657,148 (GRCm39)	L696H	probably damaging	Het
Trank1	T	G	9: 111,194,864 (GRCm39)	S963A	possibly damaging	Het
Trf	A	G	9: 103,102,326 (GRCm39)	V184A	probably benign	Het
Ttll13	T	A	7: 79,903,406 (GRCm39)	M231K	possibly damaging	Het
Tuba1a	T	G	15: 98,849,455 (GRCm39)	T41P	probably benign	Het
Zfhx4	A	G	3: 5,478,104 (GRCm39)	Q3573R	probably damaging	Het
Zfp141	G	A	7: 42,124,853 (GRCm39)	H540Y	probably damaging	Het

Other mutations in Hunk

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02312:Hunk	APN	16	90,272,829 (GRCm39)	missense	probably damaging	1.00
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
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

Predicted Primers

PCR Primer
(F):5'- GTAAACCCACAACTGTCCTATATATG -3'
(R):5'- GCTTCGCCACACTAGACAG -3'

Sequencing Primer
(F):5'- ATGAGCCCTGGATTCCATCG -3'
(R):5'- CAGAAGATGCTGCTGTGCG -3'

Posted On

2019-05-15