Mutagenetix > Incidental Mutation

Incidental Mutation 'R0463:Hap1'

41511

Institutional Source

Beutler Lab

Gene Symbol

Hap1

Ensembl Gene

ENSMUSG00000006930

Gene Name

huntingtin-associated protein 1

Synonyms

HAP-1

MMRRC Submission

038663-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.757) question?

Stock #

R0463 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

100238153-100246954 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 100240131 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 555 (L555P)

Ref Sequence

ENSEMBL: ENSMUSP00000133356 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000103124] [ENSMUST00000138603] [ENSMUST00000146878] [ENSMUST00000174635]

AlphaFold

O35668

Predicted Effect

probably damaging
Transcript: ENSMUST00000103124
AA Change: L555P

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000099413
Gene: ENSMUSG00000006930
AA Change: L555P

Domain	Start	End	E-Value	Type
low complexity region	33	46	N/A	INTRINSIC
Pfam:HAP1_N	79	403	5e-111	PFAM
low complexity region	481	499	N/A	INTRINSIC
low complexity region	506	530	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000138603
AA Change: L555P

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000133356
Gene: ENSMUSG00000006930
AA Change: L555P

Domain	Start	End	E-Value	Type
low complexity region	33	46	N/A	INTRINSIC
Pfam:HAP1_N	80	402	1.4e-109	PFAM
low complexity region	481	499	N/A	INTRINSIC
low complexity region	506	530	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000146878

SMART Domains

Protein: ENSMUSP00000134625
Gene: ENSMUSG00000006930

Domain	Start	End	E-Value	Type
Pfam:HAP1_N	1	181	2.2e-63	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000173304

Predicted Effect

unknown
Transcript: ENSMUST00000173630
AA Change: L323P

SMART Domains

Protein: ENSMUSP00000134050
Gene: ENSMUSG00000006930
AA Change: L323P

Domain	Start	End	E-Value	Type
Pfam:HAP1_N	1	177	1e-46	PFAM
low complexity region	250	268	N/A	INTRINSIC
low complexity region	275	299	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000174635

SMART Domains

Protein: ENSMUSP00000133831
Gene: ENSMUSG00000006930

Domain	Start	End	E-Value	Type
low complexity region	119	137	N/A	INTRINSIC
low complexity region	143	155	N/A	INTRINSIC

Coding Region Coverage

1x: 99.2%
3x: 98.4%
10x: 96.5%
20x: 93.5%

Validation Efficiency

MGI Phenotype

FUNCTION: The protein encoded by this gene was first identified as a neuronal protein that binds the HD protein huntingtin. The protein also interacts with kinesin light chain, 14-3-3 proteins, and Abelson helper integration site 1 protein. The protein is involved in intracellular trafficking of vesicles and organelles, and lack of the protein results in neuronal death resembling the hypothalamic degeneration that occurs in Huntington's disease. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Apr 2009]
PHENOTYPE: Homozygous inactivation of this gene results in abnormal feeding and/or suckling behavior, absent gastric milk in neonates, slow postnatal weight gain, and postnatal death. Degeneration in hypothalamic regions that control feeding behavior has been observed. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 92 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930522L14Rik	A	G	5: 109,884,926 (GRCm39)		probably benign	Het
Abcd2	C	T	15: 91,043,327 (GRCm39)	M620I	probably benign	Het
Ada	T	A	2: 163,572,271 (GRCm39)	I243F	probably benign	Het
Adam12	T	C	7: 133,576,145 (GRCm39)		probably null	Het
Adarb2	A	T	13: 8,253,224 (GRCm39)		probably benign	Het
Adk	A	C	14: 21,473,604 (GRCm39)	Q287P	probably benign	Het
Ahnak	A	G	19: 8,986,771 (GRCm39)		probably benign	Het
Aoc3	C	T	11: 101,222,432 (GRCm39)	R223W	probably damaging	Het
Aqp11	T	C	7: 97,378,228 (GRCm39)	D229G	probably benign	Het
Arhgap28	A	G	17: 68,203,220 (GRCm39)	S78P	probably damaging	Het
Bfsp2	T	A	9: 103,303,854 (GRCm39)	E383D	possibly damaging	Het
Bmpr1b	A	T	3: 141,563,191 (GRCm39)	V251D	possibly damaging	Het
Calhm1	C	T	19: 47,132,280 (GRCm39)	V112I	probably benign	Het
Catsperd	A	G	17: 56,966,554 (GRCm39)	D508G	probably damaging	Het
Cfap54	A	G	10: 92,710,805 (GRCm39)		probably null	Het
Cfap70	A	T	14: 20,498,631 (GRCm39)	Y19N	probably damaging	Het
Chga	A	T	12: 102,529,210 (GRCm39)	R396*	probably null	Het
Cntnap3	T	C	13: 64,926,690 (GRCm39)	E560G	probably damaging	Het
Csmd1	T	C	8: 15,971,759 (GRCm39)	T3024A	probably damaging	Het
Csrnp1	CCCTCCTCCTCCTCCTCCTC	CCCTCCTCCTCCTCCTC	9: 119,801,841 (GRCm39)		probably benign	Het
Cysltr1	A	G	X: 105,622,261 (GRCm39)	V75A	possibly damaging	Het
Dnaaf11	T	A	15: 66,252,323 (GRCm39)	M448L	probably benign	Het
Dnah2	A	T	11: 69,313,952 (GRCm39)	M4140K	probably damaging	Het
Dph5	A	G	3: 115,722,352 (GRCm39)	S277G	probably benign	Het
Eftud2	A	T	11: 102,755,597 (GRCm39)	D203E	probably damaging	Het
Egf	A	G	3: 129,499,882 (GRCm39)	Y252H	probably benign	Het
Egf	A	G	3: 129,531,198 (GRCm39)	S126P	probably damaging	Het
Faf1	C	T	4: 109,748,138 (GRCm39)	A481V	probably benign	Het
Fat2	A	T	11: 55,153,655 (GRCm39)	V3519D	probably damaging	Het
Fbln7	C	A	2: 128,719,431 (GRCm39)	A76E	probably benign	Het
Galnt1	A	T	18: 24,387,582 (GRCm39)	K49N	probably benign	Het
Glb1	ACCC	ACC	9: 114,250,812 (GRCm39)		probably null	Het
Grk1	T	C	8: 13,459,279 (GRCm39)	Y277H	probably damaging	Het
Ier3	T	C	17: 36,133,000 (GRCm39)	I94T	possibly damaging	Het
Il11	T	C	7: 4,779,023 (GRCm39)	T36A	probably damaging	Het
Il5ra	A	T	6: 106,708,851 (GRCm39)	D296E	probably damaging	Het
Itk	A	T	11: 46,222,816 (GRCm39)	V551E	probably damaging	Het
Kcna2	T	A	3: 107,012,476 (GRCm39)	D352E	probably benign	Het
Kif5a	A	T	10: 127,071,521 (GRCm39)	S776T	probably benign	Het
Klrb1c	T	C	6: 128,757,366 (GRCm39)	E233G	probably benign	Het
Kpna7	T	C	5: 144,944,804 (GRCm39)	K12R	possibly damaging	Het
Lhpp	C	T	7: 132,212,406 (GRCm39)		probably benign	Het
Lhx8	A	T	3: 154,033,808 (GRCm39)		probably null	Het
Magel2	T	A	7: 62,027,778 (GRCm39)	H227Q	possibly damaging	Het
Man1a	A	G	10: 53,950,594 (GRCm39)	V176A	probably damaging	Het
Mapkbp1	T	A	2: 119,853,632 (GRCm39)	M1152K	probably benign	Het
Mcoln3	T	A	3: 145,846,331 (GRCm39)	L547*	probably null	Het
Myof	T	C	19: 37,904,952 (GRCm39)	D1624G	probably damaging	Het
Myom2	T	C	8: 15,154,123 (GRCm39)	V687A	probably benign	Het
Nav1	C	A	1: 135,379,945 (GRCm39)	V1586F	possibly damaging	Het
Ndufb8	T	C	19: 44,538,784 (GRCm39)	E179G	possibly damaging	Het
Nfam1	T	C	15: 82,885,684 (GRCm39)	T223A	probably damaging	Het
Nrcam	T	A	12: 44,598,124 (GRCm39)	V371E	probably damaging	Het
Nup210l	A	G	3: 90,087,518 (GRCm39)	Q1097R	probably null	Het
Obox5	T	A	7: 15,491,571 (GRCm39)	M37K	probably damaging	Het
Obscn	A	T	11: 58,952,356 (GRCm39)	N4270K	probably benign	Het
Or4d2	G	A	11: 87,784,022 (GRCm39)	H243Y	probably damaging	Het
Or5ak25	T	A	2: 85,268,630 (GRCm39)	S291C	probably damaging	Het
Or6c1	A	G	10: 129,517,708 (GRCm39)	M300T	probably benign	Het
Or8c15	G	A	9: 38,120,360 (GRCm39)	A2T	probably benign	Het
Or8k16	T	C	2: 85,520,183 (GRCm39)	S137P	possibly damaging	Het
Patj	G	A	4: 98,562,545 (GRCm39)	E1505K	probably damaging	Het
Pnliprp1	T	A	19: 58,726,628 (GRCm39)	Y328*	probably null	Het
Ppp1r36	G	A	12: 76,465,741 (GRCm39)	E43K	probably damaging	Het
Ptch1	C	T	13: 63,668,121 (GRCm39)	V939I	probably damaging	Het
Rgs22	C	A	15: 36,093,084 (GRCm39)	K396N	probably damaging	Het
Rsrc1	A	T	3: 67,088,194 (GRCm39)	H176L	probably damaging	Het
Ryr3	A	T	2: 112,492,046 (GRCm39)	F3743L	probably damaging	Het
Scn7a	C	T	2: 66,506,084 (GRCm39)	G1602R	probably benign	Het
Sftpc	A	T	14: 70,760,110 (GRCm39)	V49E	probably damaging	Het
Slc16a10	A	G	10: 39,916,612 (GRCm39)	V430A	probably benign	Het
Slco4c1	A	C	1: 96,795,645 (GRCm39)	S138A	possibly damaging	Het
Snd1	T	C	6: 28,724,955 (GRCm39)	I501T	probably benign	Het
Stxbp2	T	A	8: 3,682,559 (GRCm39)	D49E	probably damaging	Het
Sytl4	A	T	X: 132,862,936 (GRCm39)	D16E	probably benign	Het
Tbc1d9b	G	A	11: 50,035,894 (GRCm39)	G130E	probably benign	Het
Tdrd6	T	A	17: 43,936,452 (GRCm39)	D1532V	probably damaging	Het
Tekt1	T	C	11: 72,242,778 (GRCm39)	D243G	probably damaging	Het
Tet2	A	G	3: 133,192,427 (GRCm39)	L669S	possibly damaging	Het
Tnnt3	A	G	7: 142,066,072 (GRCm39)	N201S	probably benign	Het
Trdn	A	G	10: 33,342,417 (GRCm39)		probably null	Het
Trim36	T	C	18: 46,311,523 (GRCm39)	E259G	possibly damaging	Het
Trpm1	C	T	7: 63,870,002 (GRCm39)	P436S	probably benign	Het
Vmn1r183	T	A	7: 23,754,926 (GRCm39)	L243Q	probably damaging	Het
Vps13b	T	C	15: 35,597,555 (GRCm39)	S1032P	probably damaging	Het
Vps37d	T	C	5: 135,105,395 (GRCm39)	E76G	probably damaging	Het
Vps72	A	G	3: 95,028,615 (GRCm39)	H202R	probably benign	Het
Wdr75	T	C	1: 45,858,762 (GRCm39)	S644P	probably damaging	Het
Wrn	T	A	8: 33,770,843 (GRCm39)	E697V	possibly damaging	Het
Xirp2	A	G	2: 67,345,262 (GRCm39)	D2501G	probably benign	Het
Zfp472	T	C	17: 33,194,936 (GRCm39)	W24R	probably damaging	Het
Zmym6	T	C	4: 127,016,565 (GRCm39)	V782A	probably damaging	Het

Other mutations in Hap1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01022:Hap1	APN	11	100,240,374 (GRCm39)	missense	probably benign	0.00
IGL01320:Hap1	APN	11	100,240,206 (GRCm39)	missense	probably damaging	0.96
IGL01790:Hap1	APN	11	100,242,732 (GRCm39)	splice site	probably null
IGL01949:Hap1	APN	11	100,239,588 (GRCm39)	missense	probably damaging	0.96
IGL02325:Hap1	APN	11	100,245,190 (GRCm39)	critical splice acceptor site	probably null
IGL03399:Hap1	APN	11	100,245,093 (GRCm39)	missense	possibly damaging	0.90
R0346:Hap1	UTSW	11	100,246,855 (GRCm39)	missense	probably benign
R0608:Hap1	UTSW	11	100,240,131 (GRCm39)	missense	probably damaging	1.00
R1112:Hap1	UTSW	11	100,245,143 (GRCm39)	missense	probably damaging	1.00
R1682:Hap1	UTSW	11	100,240,302 (GRCm39)	missense	possibly damaging	0.46
R1952:Hap1	UTSW	11	100,243,105 (GRCm39)	missense	probably damaging	1.00
R2079:Hap1	UTSW	11	100,244,572 (GRCm39)	missense	probably damaging	1.00
R2088:Hap1	UTSW	11	100,246,828 (GRCm39)	missense	probably benign
R2112:Hap1	UTSW	11	100,244,825 (GRCm39)	missense	probably benign	0.28
R2211:Hap1	UTSW	11	100,245,550 (GRCm39)	missense	probably benign	0.21
R2354:Hap1	UTSW	11	100,245,541 (GRCm39)	missense	probably damaging	1.00
R3829:Hap1	UTSW	11	100,246,847 (GRCm39)	missense	probably damaging	0.99
R4259:Hap1	UTSW	11	100,242,668 (GRCm39)	critical splice donor site	probably null
R4429:Hap1	UTSW	11	100,245,098 (GRCm39)	missense	probably benign	0.00
R4585:Hap1	UTSW	11	100,245,550 (GRCm39)	missense	probably benign	0.21
R4586:Hap1	UTSW	11	100,245,550 (GRCm39)	missense	probably benign	0.21
R5085:Hap1	UTSW	11	100,246,537 (GRCm39)	missense	probably damaging	1.00
R5133:Hap1	UTSW	11	100,242,357 (GRCm39)	missense	probably benign	0.00
R5762:Hap1	UTSW	11	100,246,600 (GRCm39)	missense	probably damaging	1.00
R6118:Hap1	UTSW	11	100,246,620 (GRCm39)	missense	probably benign	0.24
R6148:Hap1	UTSW	11	100,240,218 (GRCm39)	missense	probably damaging	1.00
R7221:Hap1	UTSW	11	100,239,655 (GRCm39)	missense	probably benign	0.02
R7683:Hap1	UTSW	11	100,242,374 (GRCm39)	missense	probably damaging	1.00
R8350:Hap1	UTSW	11	100,240,107 (GRCm39)	missense	probably damaging	0.96
R8450:Hap1	UTSW	11	100,240,107 (GRCm39)	missense	probably damaging	0.96
R8516:Hap1	UTSW	11	100,246,893 (GRCm39)	missense	possibly damaging	0.66
R8855:Hap1	UTSW	11	100,246,864 (GRCm39)	missense	probably damaging	1.00
R9517:Hap1	UTSW	11	100,240,188 (GRCm39)	missense	possibly damaging	0.92
R9720:Hap1	UTSW	11	100,246,696 (GRCm39)	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- ACTGAGGCAGCAGTTCTAGCCAAG -3'
(R):5'- GCTCAAGATCTCAAGCCACCTGAAG -3'

Sequencing Primer
(F):5'- CCTAGTTAAGGTAAGCGATCACTG -3'
(R):5'- ACCTGAAGATTTTGAGGCTCCAG -3'

Posted On

2013-05-23