Mutagenetix > Incidental Mutation

Incidental Mutation 'R1952:Hap1'

217403

Institutional Source

Beutler Lab

Gene Symbol

Hap1

Ensembl Gene

ENSMUSG00000006930

Gene Name

huntingtin-associated protein 1

Synonyms

HAP-1

MMRRC Submission

039966-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.757) question?

Stock #

R1952 (G1)

Quality Score

127

Status

Not validated

Chromosome

Chromosomal Location

100238153-100246954 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 100243105 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 174 (V174A)

Ref Sequence

ENSEMBL: ENSMUSP00000134625 (fasta)

Gene Model

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

AlphaFold

O35668

Predicted Effect

probably damaging
Transcript: ENSMUST00000103124
AA Change: V322A

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000099413
Gene: ENSMUSG00000006930
AA Change: V322A

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: V322A

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000133356
Gene: ENSMUSG00000006930
AA Change: V322A

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 damaging
Transcript: ENSMUST00000146878
AA Change: V174A

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

SMART Domains

Protein: ENSMUSP00000134625
Gene: ENSMUSG00000006930
AA Change: V174A

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: V96A

SMART Domains

Protein: ENSMUSP00000134050
Gene: ENSMUSG00000006930
AA Change: V96A

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: 99.1%
3x: 98.4%
10x: 96.7%
20x: 93.9%

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: 75 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700024G13Rik	A	G	14: 32,110,293 (GRCm39)	V6A	possibly damaging	Het
Accsl	G	T	2: 93,689,778 (GRCm39)	H376Q	probably damaging	Het
Adgrg1	T	C	8: 95,735,119 (GRCm39)		probably null	Het
Alyref	C	G	11: 120,486,758 (GRCm39)	V168L	probably damaging	Het
Ankrd12	T	C	17: 66,338,566 (GRCm39)	D128G	probably damaging	Het
Bcl2l14	A	G	6: 134,409,329 (GRCm39)	Y301C	probably damaging	Het
Camsap3	A	G	8: 3,654,789 (GRCm39)	T804A	probably damaging	Het
Capn11	A	T	17: 45,953,885 (GRCm39)	W154R	probably damaging	Het
Cd44	T	A	2: 102,683,432 (GRCm39)	T201S	probably damaging	Het
Cers4	G	A	8: 4,573,461 (GRCm39)	W319*	probably null	Het
Col27a1	T	A	4: 63,202,130 (GRCm39)		probably null	Het
Crnkl1	G	A	2: 145,770,120 (GRCm39)	A241V	probably damaging	Het
Cyp2c68	T	C	19: 39,700,972 (GRCm39)	Y282C	probably benign	Het
Dmd	T	A	X: 82,874,123 (GRCm39)	I1342N	probably damaging	Het
Dusp7	T	A	9: 106,248,028 (GRCm39)	C219S	probably benign	Het
Epha7	A	G	4: 28,950,474 (GRCm39)	N759S	probably damaging	Het
Fat1	T	C	8: 45,486,963 (GRCm39)	V3413A	probably benign	Het
Gls2	A	G	10: 128,045,231 (GRCm39)	H576R	probably benign	Het
Gm4884	G	A	7: 40,693,671 (GRCm39)	V547M	probably benign	Het
Il12rb2	A	G	6: 67,269,300 (GRCm39)	S838P	probably damaging	Het
Ints8	T	C	4: 11,221,150 (GRCm39)	I742V	probably benign	Het
Katnal2	G	T	18: 77,067,707 (GRCm39)	S411R	probably benign	Het
Lrp1	A	C	10: 127,403,300 (GRCm39)	V2091G	probably damaging	Het
Mettl21c	A	T	1: 44,056,368 (GRCm39)	D20E	probably damaging	Het
Mib1	A	T	18: 10,812,077 (GRCm39)	E991D	possibly damaging	Het
Mip	T	C	10: 128,061,772 (GRCm39)	S8P	possibly damaging	Het
Mllt6	T	C	11: 97,568,048 (GRCm39)	S826P	probably damaging	Het
Mlst8	AT	ATT	17: 24,696,987 (GRCm39)		probably null	Het
Myrfl	C	T	10: 116,658,716 (GRCm39)	V414I	probably benign	Het
Nbeal1	T	C	1: 60,273,999 (GRCm39)	V409A	probably damaging	Het
Nin	T	A	12: 70,077,700 (GRCm39)	Q1035L	probably damaging	Het
Nlgn1	T	A	3: 25,490,464 (GRCm39)	D421V	probably damaging	Het
Nlrp10	A	G	7: 108,523,770 (GRCm39)	V570A	probably benign	Het
Olfm3	A	T	3: 114,895,589 (GRCm39)	E157V	probably null	Het
Or8g24	T	A	9: 38,989,580 (GRCm39)	I154F	probably benign	Het
Or8g37	T	C	9: 39,731,363 (GRCm39)	S143P	probably benign	Het
Otud7a	A	G	7: 63,300,624 (GRCm39)	D21G	probably damaging	Het
Pax2	A	G	19: 44,777,271 (GRCm39)	T155A	probably benign	Het
Pcf11	A	T	7: 92,310,546 (GRCm39)	S481T	probably damaging	Het
Prkab2	T	C	3: 97,573,943 (GRCm39)	V194A	probably benign	Het
Prl3a1	G	A	13: 27,454,136 (GRCm39)	G38E	possibly damaging	Het
Psmb8	T	C	17: 34,419,884 (GRCm39)	V246A	probably damaging	Het
Ptpn12	A	T	5: 21,203,308 (GRCm39)	V490E	probably benign	Het
Ptprm	A	T	17: 67,247,575 (GRCm39)	S587T	probably benign	Het
Qars1	G	A	9: 108,390,380 (GRCm39)	R427H	probably benign	Het
R3hdml	T	C	2: 163,340,216 (GRCm39)	F128L	probably benign	Het
Rapgef4	A	G	2: 72,038,471 (GRCm39)	M541V	probably benign	Het
Rhbdf1	G	A	11: 32,164,277 (GRCm39)	R234*	probably null	Het
Rufy1	A	T	11: 50,297,233 (GRCm39)	D406E	probably benign	Het
Satb1	A	T	17: 52,047,173 (GRCm39)	L683Q	probably damaging	Het
Satb2	T	C	1: 56,938,229 (GRCm39)	T132A	probably damaging	Het
Sbspon	A	G	1: 15,930,519 (GRCm39)	S156P	probably damaging	Het
Shb	A	T	4: 45,458,347 (GRCm39)		probably null	Het
She	A	G	3: 89,756,792 (GRCm39)	K282R	possibly damaging	Het
Slc25a13	A	G	6: 6,152,482 (GRCm39)	L85P	probably damaging	Het
Slc7a13	A	T	4: 19,841,578 (GRCm39)	H475L	probably benign	Het
Sorl1	C	T	9: 41,957,920 (GRCm39)	V575I	probably benign	Het
Spag9	T	A	11: 93,988,184 (GRCm39)	C833S	possibly damaging	Het
Speer2	A	C	16: 69,654,052 (GRCm39)	N232K	probably damaging	Het
Syncrip	A	T	9: 88,358,927 (GRCm39)	M194K	probably damaging	Het
Sytl3	A	C	17: 6,995,732 (GRCm39)	T171P	probably damaging	Het
Taar7f	T	A	10: 23,925,747 (GRCm39)	Y114N	probably damaging	Het
Tamalin	T	C	15: 101,122,381 (GRCm39)	Y67H	probably benign	Het
Tap1	C	G	17: 34,412,481 (GRCm39)	P506R	probably damaging	Het
Tle6	T	C	10: 81,431,319 (GRCm39)	D212G	possibly damaging	Het
Trim80	G	T	11: 115,332,155 (GRCm39)	E116*	probably null	Het
Ttll4	A	G	1: 74,726,718 (GRCm39)	R745G	probably damaging	Het
Vdac2	A	T	14: 21,887,947 (GRCm39)	I85F	possibly damaging	Het
Vmn1r188	A	G	13: 22,272,309 (GRCm39)	R88G	probably damaging	Het
Washc2	T	C	6: 116,232,052 (GRCm39)	S821P	possibly damaging	Het
Wdhd1	T	C	14: 47,507,647 (GRCm39)	Y213C	probably damaging	Het
Wdr55	C	A	18: 36,893,437 (GRCm39)	P33Q	probably damaging	Het
Yrdc	C	T	4: 124,745,739 (GRCm39)	A32V	probably benign	Het
Zfp608	T	A	18: 55,030,851 (GRCm39)	K1030*	probably null	Het
Zfp618	T	A	4: 63,050,555 (GRCm39)		probably null	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
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'- TGAACAGCTCTCCCGTCATC -3'
(R):5'- TGACACTGGCTCCATTGTACC -3'

Sequencing Primer
(F):5'- GTCATCTCTGCCAACTCTGATG -3'
(R):5'- TGGACAAGGGATCAGGTCTTACC -3'

Posted On

2014-08-01