Mutagenetix > Incidental Mutation

Incidental Mutation 'R8701:Hunk'

669093

Institutional Source

Beutler Lab

Gene Symbol

Hunk

Ensembl Gene

ENSMUSG00000053414

Gene Name

hormonally upregulated Neu-associated kinase

Synonyms

Bstk1, Mak-v

MMRRC Submission

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8701 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

90386013-90499553 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 90386610 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Tyrosine at position 52 (F52Y)

Ref Sequence

ENSEMBL: ENSMUSP00000068007 (fasta)

Gene Model

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

AlphaFold

O88866

Predicted Effect

probably damaging
Transcript: ENSMUST00000065856
AA Change: F52Y

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

SMART Domains

Protein: ENSMUSP00000068007
Gene: ENSMUSG00000053414
AA Change: F52Y

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.8%

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: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4931408C20Rik	A	T	1: 26,685,445	V218D	probably benign	Het
Abcc4	T	C	14: 118,599,373	I659V	probably benign	Het
Adamtsl4	T	A	3: 95,684,966	D24V	possibly damaging	Het
Agtr1b	A	T	3: 20,316,092	F117I	probably damaging	Het
Aldh3b2	A	G	19: 3,978,448	E116G	probably damaging	Het
Alox5	T	A	6: 116,413,826	I455F	possibly damaging	Het
Arnt	C	T	3: 95,493,765	S675F	possibly damaging	Het
C330027C09Rik	T	A	16: 49,007,141	Y456*	probably null	Het
Camkv	A	G	9: 107,948,041	T414A	possibly damaging	Het
Cd209c	C	T	8: 3,945,892	R6H	probably benign	Het
Cnr1	A	G	4: 33,944,739	I376V	probably benign	Het
Cyp2j12	T	A	4: 96,121,573	K183M	possibly damaging	Het
Dact3	G	T	7: 16,885,276	R232L	probably damaging	Het
Dlg5	G	A	14: 24,176,700	T378M	probably benign	Het
Dnah10	T	A	5: 124,726,847	D79E	probably benign	Het
Dsc1	A	T	18: 20,107,682	Y195*	probably null	Het
Elovl1	A	T	4: 118,430,510	M1L	probably benign	Het
Fam107a	A	G	14: 8,298,755	F124L	probably damaging	Het
Fam219a	A	G	4: 41,520,283	M155T	probably damaging	Het
Gm28308	C	G	6: 52,163,450		probably benign	Het
Gpr153	C	T	4: 152,279,101		probably benign	Het
Gtf2ird2	T	A	5: 134,216,235	I445N	probably damaging	Het
Gzmb	A	T	14: 56,260,360	V141E	probably benign	Het
Hmcn1	A	T	1: 150,755,257	M930K	probably benign	Het
Il18rap	A	G	1: 40,539,341	E304G	probably benign	Het
Klk14	A	G	7: 43,694,142	S133G	possibly damaging	Het
Man2b1	T	C	8: 85,095,153	S695P	probably damaging	Het
Mccc1	A	T	3: 35,995,784	D86E	probably benign	Het
Mcu	T	A	10: 59,467,653	I121F	probably damaging	Het
Mlxipl	T	C	5: 135,107,191	F90S	possibly damaging	Het
Muc2	A	G	7: 141,695,607	D536G	probably damaging	Het
Naa11	T	C	5: 97,391,958	S114G	possibly damaging	Het
Ncaph	T	C	2: 127,106,138	K676E	probably benign	Het
Neurl2	C	T	2: 164,833,134	D103N	probably benign	Het
Nup210l	T	C	3: 90,122,814	M278T	probably benign	Het
Olfr1192-ps1	A	G	2: 88,652,487	I112V	possibly damaging	Het
Olfr550	A	T	7: 102,578,692	M66L	possibly damaging	Het
Olfr897-ps1	A	T	9: 38,309,438	L214F	unknown	Het
Olfr967	A	T	9: 39,750,914	H176L	probably damaging	Het
Olfr981	A	G	9: 40,022,519	N42S	probably damaging	Het
Pcdh20	A	T	14: 88,468,413	Y484N	possibly damaging	Het
Pkhd1l1	A	G	15: 44,574,683	Y3598C	probably damaging	Het
Plcg2	T	A	8: 117,581,677	L336Q	probably damaging	Het
Ppp1r8	T	C	4: 132,830,642	D207G	possibly damaging	Het
Prdm13	C	T	4: 21,678,615	C625Y	probably damaging	Het
Ptcd3	T	C	6: 71,885,511	D480G	possibly damaging	Het
Rbm39	T	A	2: 156,161,587	K291M	probably damaging	Het
Repin1	G	T	6: 48,597,345	E403*	probably null	Het
Rnf220	T	C	4: 117,489,993	H74R	probably damaging	Het
Sp6	A	T	11: 97,022,264	T268S	probably damaging	Het
Sphk2	A	T	7: 45,710,825	V585E	probably damaging	Het
Syne1	G	A	10: 5,205,026	Q5638*	probably null	Het
Tas1r3	C	T	4: 155,861,046	V573I	probably benign	Het
Tdrd1	T	C	19: 56,851,484	S659P	possibly damaging	Het
Tead4	T	A	6: 128,242,566	K237N	probably damaging	Het
Tex24	T	A	8: 27,345,124	C227S	probably benign	Het
Tom1	A	T	8: 75,052,168	T174S	probably benign	Het
Tpm3	C	T	3: 90,087,680	R168C	possibly damaging	Het
Trpv3	A	G	11: 73,278,936	E111G	possibly damaging	Het
Unc80	A	G	1: 66,638,032	D2040G	possibly damaging	Het
Usp47	A	G	7: 112,093,195	T955A	probably damaging	Het
Vmn2r11	G	A	5: 109,047,690	A590V	probably damaging	Het
Wisp2	G	T	2: 163,828,866	G98W	probably damaging	Het
Zfp112	A	G	7: 24,125,740	R382G	probably damaging	Het
Zfp606	T	A	7: 12,481,098	D84E	unknown	Het

Other mutations in Hunk

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02312:Hunk	APN	16	90475941	missense	probably damaging	1.00
IGL02850:Hunk	APN	16	90432572	missense	probably damaging	1.00
R0067:Hunk	UTSW	16	90447312	missense	probably damaging	1.00
R0436:Hunk	UTSW	16	90464154	missense	probably damaging	1.00
R1385:Hunk	UTSW	16	90472486	missense	possibly damaging	0.61
R1392:Hunk	UTSW	16	90472464	missense	probably damaging	0.99
R1392:Hunk	UTSW	16	90472464	missense	probably damaging	0.99
R1487:Hunk	UTSW	16	90386637	missense	probably damaging	0.99
R1707:Hunk	UTSW	16	90386407	start gained	probably benign
R1781:Hunk	UTSW	16	90432560	missense	probably damaging	1.00
R2063:Hunk	UTSW	16	90493480	missense	probably damaging	0.99
R2066:Hunk	UTSW	16	90481245	splice site	probably null
R2101:Hunk	UTSW	16	90432500	splice site	probably null
R2144:Hunk	UTSW	16	90432532	missense	probably damaging	0.99
R2213:Hunk	UTSW	16	90432617	missense	probably damaging	1.00
R4444:Hunk	UTSW	16	90432791	missense	probably benign	0.07
R4646:Hunk	UTSW	16	90475903	missense	probably damaging	0.99
R4661:Hunk	UTSW	16	90447308	critical splice acceptor site	probably null
R4834:Hunk	UTSW	16	90496198	missense	probably benign	0.05
R5094:Hunk	UTSW	16	90496666	missense	probably benign	0.01
R5766:Hunk	UTSW	16	90453739	missense	probably damaging	1.00
R5809:Hunk	UTSW	16	90475903	missense	probably damaging	0.99
R6189:Hunk	UTSW	16	90487881	missense	probably benign
R6194:Hunk	UTSW	16	90496395	missense	probably damaging	0.99
R6235:Hunk	UTSW	16	90432706	missense	probably damaging	1.00
R6468:Hunk	UTSW	16	90493432	missense	possibly damaging	0.88
R6835:Hunk	UTSW	16	90472524	missense	probably damaging	1.00
R7127:Hunk	UTSW	16	90475891	missense	probably damaging	0.99
R7329:Hunk	UTSW	16	90386682	missense	probably benign	0.37
R7331:Hunk	UTSW	16	90472562	missense	possibly damaging	0.78
R7473:Hunk	UTSW	16	90453700	missense	probably damaging	1.00
R7719:Hunk	UTSW	16	90496666	missense	probably benign	0.01
R7827:Hunk	UTSW	16	90481326	missense	possibly damaging	0.58
R7894:Hunk	UTSW	16	90472465	missense	probably damaging	1.00
R8467:Hunk	UTSW	16	90496620	missense	probably damaging	1.00
R9626:Hunk	UTSW	16	90475903	missense	probably damaging	1.00
Z1176:Hunk	UTSW	16	90472573	missense	probably damaging	1.00
Z1177:Hunk	UTSW	16	90481321	missense	possibly damaging	0.88

Predicted Primers

PCR Primer
(F):5'- GTCGCCAGCTATTGTCTGCG -3'
(R):5'- ACTAGGAGAGCCTGAGCGTG -3'

Sequencing Primer
(F):5'- CTATTGTCTGCGCGCGG -3'
(R):5'- ACACTGGGTTGGAGAGCC -3'

Posted On

2021-04-30