Mutagenetix > Incidental Mutation

Incidental Mutation 'R3923:Hypk'

307019

Institutional Source

Beutler Lab

Gene Symbol

Hypk

Ensembl Gene

ENSMUSG00000027245

Gene Name

huntingtin interacting protein K

Synonyms

2310003F16Rik

MMRRC Submission

040820-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.951) question?

Stock #

R3923 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

121287569-121288921 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 121288683 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Glutamine at position 116 (H116Q)

Ref Sequence

ENSEMBL: ENSMUSP00000117946 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000056312] [ENSMUST00000056732] [ENSMUST00000110612] [ENSMUST00000110613] [ENSMUST00000126764] [ENSMUST00000148575] [ENSMUST00000139253] [ENSMUST00000154418]

AlphaFold

Q9CR41

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000028677

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: ENSMUST00000056732

SMART Domains

Protein: ENSMUSP00000049548
Gene: ENSMUSG00000048222

Domain	Start	End	E-Value	Type
low complexity region	51	59	N/A	INTRINSIC
low complexity region	64	84	N/A	INTRINSIC
low complexity region	108	123	N/A	INTRINSIC
coiled coil region	134	150	N/A	INTRINSIC
Pfam:MFAP1	190	399	1.6e-81	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000110612
AA Change: H116Q

PolyPhen 2 Score 0.655 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000106242
Gene: ENSMUSG00000027245
AA Change: H116Q

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

noncoding transcript
Transcript: ENSMUST00000125849

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000126678

Predicted Effect

possibly damaging
Transcript: ENSMUST00000126764
AA Change: H116Q

PolyPhen 2 Score 0.655 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000117946
Gene: ENSMUSG00000027245
AA Change: H116Q

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000131870

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: 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: ENSMUST00000154418

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: ENSMUST00000127435

SMART Domains

Protein: ENSMUSP00000119373
Gene: ENSMUSG00000046110

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

Coding Region Coverage

1x: 99.3%
3x: 98.6%
10x: 97.1%
20x: 94.3%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam22	T	C	5: 8,180,514 (GRCm39)	M528V	possibly damaging	Het
Ano3	T	A	2: 110,601,304 (GRCm39)	Y318F	probably damaging	Het
Asic4	T	A	1: 75,427,871 (GRCm39)	D132E	probably damaging	Het
Atp2b2	A	G	6: 113,774,069 (GRCm39)		probably null	Het
Cast	T	C	13: 74,876,532 (GRCm39)	E447G	probably damaging	Het
Ccdc110	T	C	8: 46,395,426 (GRCm39)	I439T	probably damaging	Het
Ccdc50	A	T	16: 27,263,294 (GRCm39)	R264S	probably damaging	Het
Cdhr18	T	A	14: 13,865,990 (GRCm38)	K300*	probably null	Het
Chd9	T	A	8: 91,660,147 (GRCm39)	V369E	probably benign	Het
Cnnm1	A	G	19: 43,428,884 (GRCm39)	M1V	probably null	Het
Col4a1	T	A	8: 11,251,665 (GRCm39)		probably benign	Het
Crtac1	A	G	19: 42,322,386 (GRCm39)	V118A	probably damaging	Het
Ddx59	T	A	1: 136,344,482 (GRCm39)	V51D	probably benign	Het
Dipk1c	A	T	18: 84,748,812 (GRCm39)	T137S	probably damaging	Het
Dtd2	G	C	12: 52,051,734 (GRCm39)		probably null	Het
Ehmt1	A	T	2: 24,774,347 (GRCm39)		probably null	Het
Emc1	T	A	4: 139,090,496 (GRCm39)	L412*	probably null	Het
Ep400	T	C	5: 110,904,389 (GRCm39)	N70S	possibly damaging	Het
Ercc6l2	T	C	13: 64,018,549 (GRCm39)		probably benign	Het
Fry	T	C	5: 150,336,814 (GRCm39)	V1395A	probably benign	Het
Gps1	A	G	11: 120,677,259 (GRCm39)	N186S	possibly damaging	Het
Hdgf	T	A	3: 87,821,535 (GRCm39)	D128E	probably benign	Het
Hipk3	A	G	2: 104,301,107 (GRCm39)	S362P	probably damaging	Het
Ifna9	T	A	4: 88,510,508 (GRCm39)	T39S	possibly damaging	Het
Itgae	A	C	11: 73,006,969 (GRCm39)	D405A	probably damaging	Het
Itprid1	T	C	6: 55,945,045 (GRCm39)	S589P	probably benign	Het
Kdm5a	T	C	6: 120,358,625 (GRCm39)	S223P	probably benign	Het
Kif21a	C	T	15: 90,821,497 (GRCm39)	S1432N	possibly damaging	Het
Klhl1	A	T	14: 96,584,316 (GRCm39)	C305S	possibly damaging	Het
Lrrn2	A	G	1: 132,866,230 (GRCm39)	S432G	probably benign	Het
Mlana	T	A	19: 29,682,098 (GRCm39)	S50R	probably damaging	Het
Mycbp2	A	T	14: 103,364,149 (GRCm39)	H4383Q	probably damaging	Het
Ncor1	A	G	11: 62,216,442 (GRCm39)	S1469P	probably damaging	Het
Nol6	G	T	4: 41,121,531 (GRCm39)	F270L	probably benign	Het
Nr2c2	T	A	6: 92,137,382 (GRCm39)	M431K	probably damaging	Het
Nrap	T	C	19: 56,368,688 (GRCm39)	I243V	probably damaging	Het
Obscn	T	C	11: 58,951,754 (GRCm39)	I4297V	possibly damaging	Het
Onecut2	A	G	18: 64,474,591 (GRCm39)	K381E	probably damaging	Het
Or52n1	T	A	7: 104,383,396 (GRCm39)	E58D	probably benign	Het
Or8k23	T	C	2: 86,186,205 (GRCm39)	I174V	probably benign	Het
Palb2	A	T	7: 121,716,583 (GRCm39)		probably null	Het
Plod1	T	C	4: 148,000,280 (GRCm39)	K260E	possibly damaging	Het
Rgsl1	T	C	1: 153,679,876 (GRCm39)		probably null	Het
Rpe65	T	A	3: 159,310,037 (GRCm39)	F103L	probably benign	Het
Ryr3	C	T	2: 112,672,218 (GRCm39)	A1438T	possibly damaging	Het
Slc17a3	G	A	13: 24,042,037 (GRCm39)	V402M	possibly damaging	Het
Slc19a3	A	T	1: 83,000,678 (GRCm39)	F113Y	probably damaging	Het
Snph	C	T	2: 151,435,431 (GRCm39)	C430Y	probably damaging	Het
Tarbp1	T	C	8: 127,167,510 (GRCm39)	I1101V	probably benign	Het
Tatdn1	G	A	15: 58,793,020 (GRCm39)	L120F	possibly damaging	Het
Trav3-3	A	G	14: 53,903,828 (GRCm39)	K49E	probably benign	Het
Trpv5	T	C	6: 41,630,183 (GRCm39)	T636A	probably benign	Het
Ube2l6	A	G	2: 84,639,418 (GRCm39)	D127G	possibly damaging	Het
Usp33	T	A	3: 152,080,428 (GRCm39)		probably null	Het
Usp53	A	T	3: 122,727,954 (GRCm39)	F876Y	probably benign	Het
Utrn	A	T	10: 12,615,223 (GRCm39)	I316K	probably benign	Het
Zfp106	G	T	2: 120,365,337 (GRCm39)	Q357K	probably damaging	Het
Zfp143	T	C	7: 109,673,398 (GRCm39)	V138A	probably damaging	Het
Zfp451	T	C	1: 33,818,126 (GRCm39)	R118G	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
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
R7274:Hypk	UTSW	2	121,284,805 (GRCm39)	intron	probably benign
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'- ACTGGCGAAGGTCACTATCAAG -3'
(R):5'- CACACAGTTTCATCAAGGTCC -3'

Sequencing Primer
(F):5'- TCACTATCAAGAAGGAAGATCTGG -3'
(R):5'- CAGTCAGTCAGTCCAGAA -3'

Posted On

2015-04-17