Mutagenetix > Incidental Mutation

Incidental Mutation 'R2112:Hap1'

232689

Institutional Source

Beutler Lab

Gene Symbol

Hap1

Ensembl Gene

ENSMUSG00000006930

Gene Name

huntingtin-associated protein 1

Synonyms

HAP-1

MMRRC Submission

040116-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.801) question?

Stock #

R2112 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

100238153-100246954 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 100244825 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 240 (D240G)

Ref Sequence

ENSEMBL: ENSMUSP00000133356 (fasta)

Gene Model

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

AlphaFold

O35668

Predicted Effect

probably benign
Transcript: ENSMUST00000103124
AA Change: D240G

PolyPhen 2 Score 0.276 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000099413
Gene: ENSMUSG00000006930
AA Change: D240G

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 benign
Transcript: ENSMUST00000138603
AA Change: D240G

PolyPhen 2 Score 0.276 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000133356
Gene: ENSMUSG00000006930
AA Change: D240G

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
AA Change: D92G

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000134625
Gene: ENSMUSG00000006930
AA Change: D92G

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: D14G

SMART Domains

Protein: ENSMUSP00000134050
Gene: ENSMUSG00000006930
AA Change: D14G

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: 98.6%
10x: 97.3%
20x: 95.1%

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: 94 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam1b	A	G	5: 121,638,777 (GRCm39)		probably benign	Het
Adprhl1	A	G	8: 13,298,694 (GRCm39)	Y79H	probably damaging	Het
Ambra1	T	A	2: 91,706,132 (GRCm39)	W746R	probably damaging	Het
Ankhd1	A	T	18: 36,774,679 (GRCm39)	K1420I	probably damaging	Het
Ap1b1	T	C	11: 4,965,613 (GRCm39)	F51L	probably damaging	Het
Arhgap24	A	C	5: 103,040,366 (GRCm39)	R434S	probably damaging	Het
Arhgap29	T	C	3: 121,805,210 (GRCm39)	L525P	probably benign	Het
Arpc1b	T	C	5: 145,060,579 (GRCm39)	Y124H	probably damaging	Het
Arr3	T	A	X: 99,658,247 (GRCm39)	F269L	possibly damaging	Het
Atp11b	G	T	3: 35,891,677 (GRCm39)	V830F	probably damaging	Het
Ccdc71l	T	A	12: 32,429,229 (GRCm39)	F83I	probably damaging	Het
Cdh23	G	T	10: 60,141,362 (GRCm39)	F3127L	probably damaging	Het
Cfap251	G	A	5: 123,392,438 (GRCm39)		probably benign	Het
Cldn15	T	A	5: 136,997,016 (GRCm39)	M19K	possibly damaging	Het
Cog4	A	G	8: 111,585,214 (GRCm39)	Y292C	possibly damaging	Het
Col12a1	A	G	9: 79,551,181 (GRCm39)	V2145A	possibly damaging	Het
Col5a3	T	C	9: 20,721,073 (GRCm39)	I110V	unknown	Het
Cps1	T	A	1: 67,216,139 (GRCm39)	D821E	probably benign	Het
Crnkl1	A	T	2: 145,772,617 (GRCm39)	Y153*	probably null	Het
Dock10	T	A	1: 80,483,359 (GRCm39)	K2082M	probably damaging	Het
Dock10	T	C	1: 80,483,360 (GRCm39)	K2083E	probably damaging	Het
Dst	T	C	1: 34,208,259 (GRCm39)	S737P	probably damaging	Het
Dthd1	T	C	5: 63,000,222 (GRCm39)	S515P	probably damaging	Het
Dthd1	T	C	5: 62,979,251 (GRCm39)	Y304H	probably damaging	Het
Etf1	A	T	18: 35,042,154 (GRCm39)		probably null	Het
Fmnl2	A	G	2: 52,995,549 (GRCm39)	E424G	probably damaging	Het
Galt	A	G	4: 41,758,245 (GRCm39)	T337A	probably benign	Het
Gbp4	A	G	5: 105,283,042 (GRCm39)	L76P	possibly damaging	Het
Gcfc2	C	A	6: 81,900,759 (GRCm39)	D24E	probably benign	Het
Gigyf2	A	G	1: 87,368,452 (GRCm39)	H1044R	probably damaging	Het
Glg1	T	C	8: 111,919,178 (GRCm39)	D315G	probably damaging	Het
Gm4787	C	T	12: 81,424,607 (GRCm39)	C517Y	probably damaging	Het
Gnl3l	A	G	X: 149,780,290 (GRCm39)	S217P	probably damaging	Het
Gpr37	T	C	6: 25,669,380 (GRCm39)	Y488C	possibly damaging	Het
Hhla1	C	G	15: 65,808,232 (GRCm39)	W271S	probably benign	Het
Hmgxb3	T	C	18: 61,288,458 (GRCm39)	R470G	possibly damaging	Het
Inpp5a	A	G	7: 139,154,877 (GRCm39)	D332G	probably damaging	Het
Insr	A	G	8: 3,219,748 (GRCm39)	S925P	probably benign	Het
Isoc2b	T	A	7: 4,852,474 (GRCm39)	D171V	probably damaging	Het
Kif20b	T	C	19: 34,909,132 (GRCm39)	I223T	probably benign	Het
Krt6b	T	C	15: 101,586,999 (GRCm39)	T258A	possibly damaging	Het
Lipo4	G	A	19: 33,488,926 (GRCm39)	P219L	probably benign	Het
Luc7l	T	C	17: 26,474,101 (GRCm39)		probably null	Het
Madd	T	C	2: 91,007,321 (GRCm39)	K264E	possibly damaging	Het
Mcf2l	A	T	8: 13,051,867 (GRCm39)	K433N	probably damaging	Het
Mob3b	A	T	4: 35,083,795 (GRCm39)	N131K	probably damaging	Het
Mtus1	G	T	8: 41,475,608 (GRCm39)	P819T	probably damaging	Het
Myo15a	T	C	11: 60,384,994 (GRCm39)	F1699L	probably damaging	Het
Nav1	C	T	1: 135,376,742 (GRCm39)	R1694Q	probably damaging	Het
Neb	G	C	2: 52,218,776 (GRCm39)	T78S	probably damaging	Het
Nek2	T	C	1: 191,559,320 (GRCm39)	V275A	probably benign	Het
Nfatc1	A	T	18: 80,678,879 (GRCm39)	C836*	probably null	Het
Nos1	T	C	5: 118,074,636 (GRCm39)	V1060A	probably benign	Het
Notch3	T	A	17: 32,363,584 (GRCm39)	I1160F	probably benign	Het
Nox4	T	C	7: 87,021,216 (GRCm39)	L476P	probably damaging	Het
Npc1	A	T	18: 12,346,529 (GRCm39)	N222K	possibly damaging	Het
Nrn1l	C	A	8: 106,621,378 (GRCm39)	H109Q	possibly damaging	Het
Or4c11	T	C	2: 88,695,545 (GRCm39)	S199P	possibly damaging	Het
Or4k15	G	T	14: 50,364,080 (GRCm39)	L15F	probably damaging	Het
Or6d13	T	C	6: 116,517,611 (GRCm39)	Y66H	possibly damaging	Het
Or7a41	T	C	10: 78,871,248 (GRCm39)	L206P	probably damaging	Het
Or8g27	T	C	9: 39,129,075 (GRCm39)	Y141H	probably benign	Het
Or8g33	C	A	9: 39,337,966 (GRCm39)	V134L	probably benign	Het
Pcnt	T	C	10: 76,256,360 (GRCm39)	K627E	probably damaging	Het
Plch1	T	A	3: 63,630,227 (GRCm39)	T514S	probably damaging	Het
Ppargc1b	G	A	18: 61,444,321 (GRCm39)	P297S	probably benign	Het
Ppig	A	G	2: 69,580,451 (GRCm39)	T662A	unknown	Het
Prdm2	A	C	4: 142,858,506 (GRCm39)	S1595A	probably benign	Het
Ptpn5	T	A	7: 46,732,890 (GRCm39)	T318S	probably benign	Het
Ralgps2	A	G	1: 156,660,278 (GRCm39)	Y265H	probably damaging	Het
Seh1l	T	C	18: 67,920,249 (GRCm39)	I182T	probably damaging	Het
Slc12a6	T	C	2: 112,186,830 (GRCm39)	I943T	probably damaging	Het
Slc5a5	A	T	8: 71,342,395 (GRCm39)		probably null	Het
Sparcl1	T	A	5: 104,236,289 (GRCm39)	Q488L	probably damaging	Het
Sphkap	T	G	1: 83,253,602 (GRCm39)	K1382N	probably benign	Het
Sybu	T	C	15: 44,536,731 (GRCm39)	S532G	probably benign	Het
Syde2	G	A	3: 145,704,241 (GRCm39)	G131S	possibly damaging	Het
Taok1	C	T	11: 77,462,472 (GRCm39)	V206I	probably benign	Het
Tas1r2	G	T	4: 139,382,666 (GRCm39)	M101I	probably benign	Het
Trpc6	C	T	9: 8,656,613 (GRCm39)	T680I	probably damaging	Het
Trub1	T	C	19: 57,473,646 (GRCm39)		probably null	Het
Tspan1	G	T	4: 116,020,885 (GRCm39)		probably null	Het
Ttc28	G	A	5: 111,424,139 (GRCm39)	E1438K	probably damaging	Het
Ubr3	A	G	2: 69,808,136 (GRCm39)	T1206A	possibly damaging	Het
Ulbp3	C	T	10: 3,076,459 (GRCm39)		noncoding transcript	Het
Usp40	A	G	1: 87,877,936 (GRCm39)	I1117T	probably benign	Het
Usp43	G	T	11: 67,812,536 (GRCm39)	N113K	probably damaging	Het
Vcan	T	A	13: 89,841,422 (GRCm39)	D414V	probably damaging	Het
Vmn1r202	T	A	13: 22,685,904 (GRCm39)	Y171F	possibly damaging	Het
Zfp142	A	G	1: 74,612,795 (GRCm39)	S451P	probably damaging	Het
Zfp516	A	G	18: 82,975,536 (GRCm39)	D578G	probably damaging	Het
Zfp90	G	A	8: 107,152,120 (GRCm39)	C611Y	probably damaging	Het
Zfp954	A	G	7: 7,118,609 (GRCm39)	C312R	probably damaging	Het
Zmym3	A	T	X: 100,450,993 (GRCm39)	V1208D	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
R0463:Hap1	UTSW	11	100,240,131 (GRCm39)	missense	probably damaging	1.00
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
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'- ACTGTAAGGGCTGGAGGATC -3'
(R):5'- TTCCTAAGGACCAGGGAGAG -3'

Sequencing Primer
(F):5'- GATCCCAGTCCCCAAGGCTTC -3'
(R):5'- AGACTAGCACCCGTTCTGC -3'

Posted On

2014-09-18