Mutagenetix > Incidental Mutation

Incidental Mutation 'R7274:Hypk'

565436

Institutional Source

Beutler Lab

Gene Symbol

Hypk

Ensembl Gene

ENSMUSG00000027245

Gene Name

huntingtin interacting protein K

Synonyms

2310003F16Rik

MMRRC Submission

067851-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.951) question?

Stock #

R7274 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

121287569-121288921 bp(+) (GRCm39)

Type of Mutation

intron

DNA Base Change (assembly)

A to G at 121284805 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000123257 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000056312] [ENSMUST00000099475] [ENSMUST00000110612] [ENSMUST00000110613] [ENSMUST00000110615] [ENSMUST00000126764] [ENSMUST00000139253] [ENSMUST00000148575] [ENSMUST00000154418]

AlphaFold

Q9CR41

Predicted Effect

probably benign
Transcript: ENSMUST00000056312

SMART Domains

Protein: ENSMUSP00000051261
Gene: ENSMUSG00000046110

Domain	Start	End	E-Value	Type
Pfam:Serinc	33	488	3e-125	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000099475

SMART Domains

Protein: ENSMUSP00000097074
Gene: ENSMUSG00000074884

Domain	Start	End	E-Value	Type
Pfam:4F5	1	38	3.1e-14	PFAM
low complexity region	49	68	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000110612

SMART Domains

Protein: ENSMUSP00000106242
Gene: ENSMUSG00000027245

Domain	Start	End	E-Value	Type
coiled coil region	69	111	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000110613

SMART Domains

Protein: ENSMUSP00000106243
Gene: ENSMUSG00000046110

Domain	Start	End	E-Value	Type
Pfam:Serinc	34	280	5.6e-67	PFAM
low complexity region	342	364	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000110615

Predicted Effect

probably benign
Transcript: ENSMUST00000126764

SMART Domains

Protein: ENSMUSP00000117946
Gene: ENSMUSG00000027245

Domain	Start	End	E-Value	Type
coiled coil region	69	111	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000127435

SMART Domains

Protein: ENSMUSP00000119373
Gene: ENSMUSG00000046110

Domain	Start	End	E-Value	Type
Pfam:Serinc	2	192	7.7e-61	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000139253

SMART Domains

Protein: ENSMUSP00000123181
Gene: ENSMUSG00000074884

Domain	Start	End	E-Value	Type
Pfam:4F5	1	38	1e-14	PFAM
low complexity region	45	59	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000140135

SMART Domains

Protein: ENSMUSP00000117054
Gene: ENSMUSG00000046110

Domain	Start	End	E-Value	Type
Pfam:Serinc	1	75	8.2e-14	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000140752

SMART Domains

Protein: ENSMUSP00000116676
Gene: ENSMUSG00000046110

Domain	Start	End	E-Value	Type
Pfam:Serinc	2	78	7.3e-14	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000148575

SMART Domains

Protein: ENSMUSP00000121895
Gene: ENSMUSG00000074884

Domain	Start	End	E-Value	Type
Pfam:4F5	1	38	2.9e-14	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000154418

Coding Region Coverage

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

Validation Efficiency

100% (61/61)

Allele List at MGI

Other mutations in this stock

Total: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1190005I06Rik	T	C	8: 121,338,005 (GRCm39)	S69G	possibly damaging	Het
Alg12	G	A	15: 88,690,910 (GRCm39)	S337F	probably damaging	Het
Bcl11a	T	C	11: 24,113,985 (GRCm39)	S443P	probably damaging	Het
C1qtnf4	T	C	2: 90,719,885 (GRCm39)	Y53H	probably damaging	Het
Cacna1d	T	A	14: 29,864,600 (GRCm39)	E454V	probably damaging	Het
Cacna1h	A	G	17: 25,597,811 (GRCm39)	F1761S	probably damaging	Het
Cacna1i	A	T	15: 80,261,023 (GRCm39)	I1344F	possibly damaging	Het
Cat	T	C	2: 103,307,235 (GRCm39)	N33D	probably benign	Het
Cdh17	C	T	4: 11,783,174 (GRCm39)	Q172*	probably null	Het
Chrna2	A	G	14: 66,386,675 (GRCm39)	I274V	probably benign	Het
Cog2	T	G	8: 125,262,258 (GRCm39)	S299A	possibly damaging	Het
Cpa6	C	A	1: 10,479,524 (GRCm39)	M236I	probably damaging	Het
Crym	T	A	7: 119,789,742 (GRCm39)	Q242L	probably benign	Het
Ddx60	T	C	8: 62,393,142 (GRCm39)		probably null	Het
Eif4a3l1	A	G	6: 136,306,396 (GRCm39)	T286A	possibly damaging	Het
Epdr1	A	T	13: 19,777,458 (GRCm39)	I180N	possibly damaging	Het
Fancd2os	G	A	6: 113,574,851 (GRCm39)	L52F	probably benign	Het
Fbxo16	C	A	14: 65,558,716 (GRCm39)	R292S	probably benign	Het
Fn1	T	C	1: 71,667,272 (GRCm39)	Q820R	probably benign	Het
Gm4131	T	A	14: 62,704,301 (GRCm39)	Y140F	possibly damaging	Het
Grin2a	T	C	16: 9,396,986 (GRCm39)	R1034G	possibly damaging	Het
Ighmbp2	A	G	19: 3,314,951 (GRCm39)	V823A	probably benign	Het
Irf5	A	G	6: 29,534,039 (GRCm39)	N95S	probably damaging	Het
Kdr	A	T	5: 76,125,360 (GRCm39)	M379K	probably benign	Het
Kif19a	G	T	11: 114,656,281 (GRCm39)		probably benign	Het
Klhdc4	T	C	8: 122,526,397 (GRCm39)		probably null	Het
Lama2	A	T	10: 26,995,976 (GRCm39)	I1717N	probably damaging	Het
Lama4	A	T	10: 38,968,295 (GRCm39)	Q1479L	probably benign	Het
Lgr5	T	A	10: 115,288,410 (GRCm39)	T745S	probably damaging	Het
Lifr	T	A	15: 7,196,540 (GRCm39)		probably null	Het
Llgl1	C	T	11: 60,596,812 (GRCm39)	R138C	possibly damaging	Het
Mccc1	A	T	3: 36,044,005 (GRCm39)	V246E	probably damaging	Het
Mdn1	T	A	4: 32,725,944 (GRCm39)	L2621H	probably benign	Het
Mecr	C	A	4: 131,581,089 (GRCm39)	A80D	probably damaging	Het
Mia2	A	G	12: 59,154,905 (GRCm39)	E206G	probably damaging	Het
Nubpl	A	G	12: 52,179,203 (GRCm39)		probably benign	Het
Obscn	C	T	11: 59,024,053 (GRCm39)	R539H	probably damaging	Het
Or4n4b	T	A	14: 50,535,879 (GRCm39)	T296S	probably benign	Het
Or8h10	A	G	2: 86,808,867 (GRCm39)	V91A	probably benign	Het
Pde5a	A	T	3: 122,648,895 (GRCm39)	K838*	probably null	Het
Pgm3	A	G	9: 86,444,650 (GRCm39)	L295P	probably damaging	Het
Pkp2	T	C	16: 16,064,793 (GRCm39)	L439P	possibly damaging	Het
Polr1a	T	A	6: 71,897,500 (GRCm39)	C205*	probably null	Het
Rab3gap1	T	A	1: 127,855,249 (GRCm39)	I429K	probably benign	Het
Rassf8	T	C	6: 145,761,295 (GRCm39)	V207A	probably benign	Het
Sacs	T	A	14: 61,451,530 (GRCm39)	D4525E	possibly damaging	Het
Sec24a	A	T	11: 51,598,082 (GRCm39)	L864Q	probably damaging	Het
Spats2l	C	A	1: 57,918,672 (GRCm39)	Y35*	probably null	Het
Sptlc2	A	T	12: 87,388,380 (GRCm39)	D367E	probably benign	Het
Ssc4d	T	C	5: 135,996,810 (GRCm39)	D97G	possibly damaging	Het
Tjp1	A	G	7: 65,177,400 (GRCm39)	Y3H	possibly damaging	Het
Tkt	T	A	14: 30,291,102 (GRCm39)		probably null	Het
Trim60	T	A	8: 65,453,133 (GRCm39)	N372I	possibly damaging	Het
Trpm2	T	C	10: 77,759,389 (GRCm39)	N1132D	probably benign	Het
Tsc22d1	T	C	14: 76,654,154 (GRCm39)	I211T	probably damaging	Het
Ttc39b	T	C	4: 83,180,088 (GRCm39)	K132E	possibly damaging	Het
Ttn	C	T	2: 76,553,932 (GRCm39)	V30924I	probably damaging	Het
Tubgcp6	G	A	15: 88,987,173 (GRCm39)	Q1267*	probably null	Het
Zfp30	C	A	7: 29,492,043 (GRCm39)	T180N	probably benign	Het
Zp2	A	G	7: 119,731,614 (GRCm39)	*714R	probably null	Het

Other mutations in Hypk

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01543:Hypk	APN	2	121,287,776 (GRCm39)	splice site	probably null
IGL03309:Hypk	APN	2	121,288,674 (GRCm39)	missense	probably damaging	1.00
IGL03309:Hypk	APN	2	121,288,673 (GRCm39)	nonsense	probably null
R2230:Hypk	UTSW	2	121,287,773 (GRCm39)	critical splice donor site	probably null
R3923:Hypk	UTSW	2	121,288,683 (GRCm39)	missense	possibly damaging	0.65
R4060:Hypk	UTSW	2	121,284,160 (GRCm39)	intron	probably benign
R4438:Hypk	UTSW	2	121,288,475 (GRCm39)	missense	probably damaging	0.98
R4551:Hypk	UTSW	2	121,283,961 (GRCm39)	critical splice donor site	probably null
R4791:Hypk	UTSW	2	121,288,136 (GRCm39)	splice site	probably null
R5075:Hypk	UTSW	2	121,286,111 (GRCm39)	utr 3 prime	probably benign
R7133:Hypk	UTSW	2	121,283,961 (GRCm39)	critical splice donor site	probably null
R8130:Hypk	UTSW	2	121,286,859 (GRCm39)	utr 3 prime	probably benign
R9136:Hypk	UTSW	2	121,287,636 (GRCm39)	nonsense	probably null
R9203:Hypk	UTSW	2	121,288,163 (GRCm39)	nonsense	probably null
R9610:Hypk	UTSW	2	121,288,154 (GRCm39)	missense	probably damaging	1.00
R9611:Hypk	UTSW	2	121,288,154 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TAGAACCCTAGTGTGGCCAGTG -3'
(R):5'- AGGGAGTTCCAAAGTCAGCC -3'

Sequencing Primer
(F):5'- TAGTGTGGCCAGTGACACAC -3'
(R):5'- CAGGGGGATTTCTGAGTTCAAGAC -3'

Posted On

2019-06-26