Mutagenetix > Incidental Mutation

Incidental Mutation 'R2079:Hap1'

229372

Institutional Source

Beutler Lab

Gene Symbol

Hap1

Ensembl Gene

ENSMUSG00000006930

Gene Name

huntingtin-associated protein 1

Synonyms

HAP-1

MMRRC Submission

040084-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.801) question?

Stock #

R2079 (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 100244572 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 120 (E120G)

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: E268G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000099413
Gene: ENSMUSG00000006930
AA Change: E268G

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: E268G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000133356
Gene: ENSMUSG00000006930
AA Change: E268G

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: E120G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000134625
Gene: ENSMUSG00000006930
AA Change: E120G

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: E42G

SMART Domains

Protein: ENSMUSP00000134050
Gene: ENSMUSG00000006930
AA Change: E42G

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: 97.4%
20x: 95.4%

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: 72 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts6	A	T	13: 104,598,746 (GRCm39)	R862S	probably benign	Het
Aldoa	T	C	7: 126,396,076 (GRCm39)	D164G	probably null	Het
Ankle2	T	C	5: 110,392,371 (GRCm39)	V459A	probably damaging	Het
Atp11a	A	G	8: 12,907,902 (GRCm39)	Y482C	probably damaging	Het
BC035947	A	G	1: 78,488,561 (GRCm39)		probably benign	Het
Cfap65	G	A	1: 74,956,358 (GRCm39)	R1074C	probably benign	Het
Ciart	G	T	3: 95,786,350 (GRCm39)	H242N	probably damaging	Het
Cidec	T	A	6: 113,402,615 (GRCm39)	M220L	probably benign	Het
Clca3a1	A	G	3: 144,713,534 (GRCm39)	I699T	possibly damaging	Het
Csf2rb2	T	C	15: 78,172,207 (GRCm39)	D401G	probably benign	Het
Cyp2j6	C	A	4: 96,419,962 (GRCm39)	L256F	possibly damaging	Het
Ddr2	A	T	1: 169,832,345 (GRCm39)	Y148*	probably null	Het
Depdc5	T	A	5: 33,104,018 (GRCm39)	I373N	possibly damaging	Het
Dpp10	A	T	1: 123,360,721 (GRCm39)	M268K	probably damaging	Het
Fam118b	C	A	9: 35,134,960 (GRCm39)	V216F	possibly damaging	Het
Fancd2	T	C	6: 113,532,148 (GRCm39)	V487A	probably damaging	Het
Fhad1	T	A	4: 141,718,513 (GRCm39)	R147*	probably null	Het
Flt3	A	G	5: 147,291,893 (GRCm39)	S544P	probably damaging	Het
Frem3	C	A	8: 81,341,732 (GRCm39)	Q1342K	probably benign	Het
Garin3	T	G	11: 46,295,934 (GRCm39)	V102G	probably benign	Het
Gimap4	T	C	6: 48,667,881 (GRCm39)	M84T	possibly damaging	Het
Gm20481	T	C	17: 35,189,196 (GRCm39)	K569R	probably benign	Het
Gm4871	A	C	5: 144,966,741 (GRCm39)	D247E	possibly damaging	Het
Gm5141	A	T	13: 62,922,424 (GRCm39)	N248K	probably benign	Het
Gulo	A	G	14: 66,227,832 (GRCm39)	Y367H	probably damaging	Het
Heatr3	T	A	8: 88,868,404 (GRCm39)	N51K	probably damaging	Het
Hipk2	T	C	6: 38,795,720 (GRCm39)	D183G	probably damaging	Het
Hnrnpll	T	A	17: 80,342,806 (GRCm39)	T439S	probably benign	Het
Hoxd3	A	C	2: 74,574,610 (GRCm39)	E85D	probably damaging	Het
Ipo8	A	T	6: 148,690,660 (GRCm39)	M694K	probably damaging	Het
Jag2	A	G	12: 112,883,997 (GRCm39)	I194T	probably damaging	Het
Jrkl	A	T	9: 13,244,864 (GRCm39)	F266I	probably damaging	Het
Kcnt1	A	G	2: 25,790,260 (GRCm39)	I436V	possibly damaging	Het
Kdm3b	A	T	18: 34,936,570 (GRCm39)	D284V	probably damaging	Het
Khdrbs2	A	G	1: 32,506,955 (GRCm39)	T200A	probably benign	Het
Kmt2c	T	C	5: 25,557,278 (GRCm39)	D1143G	possibly damaging	Het
Kremen1	G	GGGGT	11: 5,151,794 (GRCm39)		probably null	Het
Lama2	A	C	10: 27,245,049 (GRCm39)	I244S	probably damaging	Het
Lama5	G	A	2: 179,867,301 (GRCm39)	P99S	possibly damaging	Het
Lrrc30	A	T	17: 67,938,875 (GRCm39)	L235Q	possibly damaging	Het
Man2b2	C	T	5: 36,971,716 (GRCm39)	V667M	possibly damaging	Het
Mmp2	T	A	8: 93,576,817 (GRCm39)	N77K	probably damaging	Het
Myo1a	A	G	10: 127,556,482 (GRCm39)	E1009G	probably benign	Het
Ndst1	A	G	18: 60,828,581 (GRCm39)	Y658H	probably damaging	Het
Nlrp10	A	G	7: 108,524,835 (GRCm39)	L215P	possibly damaging	Het
Nrbp1	T	C	5: 31,408,417 (GRCm39)	F526L	probably benign	Het
Or10p21	T	C	10: 128,847,898 (GRCm39)	V248A	probably damaging	Het
Or51t4	T	A	7: 102,598,702 (GRCm39)	F333L	probably benign	Het
Padi2	T	C	4: 140,660,507 (GRCm39)	L329P	probably damaging	Het
Pcdhb20	A	G	18: 37,638,224 (GRCm39)	Q250R	probably benign	Het
Pcdhb3	T	A	18: 37,436,362 (GRCm39)	L776Q	possibly damaging	Het
Pik3cb	A	T	9: 98,942,257 (GRCm39)	M700K	probably benign	Het
Pla2g6	C	T	15: 79,197,194 (GRCm39)	V127M	probably damaging	Het
Rabgef1	T	C	5: 130,219,776 (GRCm39)	S80P	probably damaging	Het
Sema3a	C	T	5: 13,501,098 (GRCm39)	T47I	possibly damaging	Het
Sik2	C	T	9: 50,818,706 (GRCm39)		probably null	Het
Sin3a	T	C	9: 56,996,807 (GRCm39)	V112A	probably benign	Het
Slc26a6	G	A	9: 108,736,257 (GRCm39)	A472T	probably damaging	Het
Syne1	A	G	10: 5,311,502 (GRCm39)	V561A	probably benign	Het
Syt16	C	T	12: 74,285,073 (GRCm39)	T422I	probably damaging	Het
Tlr11	A	T	14: 50,598,437 (GRCm39)	H141L	probably damaging	Het
Tmem252	A	T	19: 24,655,017 (GRCm39)	E131D	probably benign	Het
Trim55	T	G	3: 19,698,830 (GRCm39)	L20V	probably damaging	Het
Uqcrfs1	A	T	13: 30,725,291 (GRCm39)	V83D	probably benign	Het
Utf1	C	T	7: 139,524,808 (GRCm39)	R309*	probably null	Het
Uxs1	T	C	1: 43,804,133 (GRCm39)	T261A	probably damaging	Het
Vmn1r24	T	C	6: 57,932,655 (GRCm39)	I288V	probably benign	Het
Vmn1r80	A	T	7: 11,927,121 (GRCm39)	D77V	probably damaging	Het
Vmn2r74	T	G	7: 85,606,383 (GRCm39)	H321P	probably benign	Het
Zfp638	T	C	6: 83,930,371 (GRCm39)		probably null	Het
Zwilch	T	A	9: 64,060,856 (GRCm39)	Q332L	probably damaging	Het
Zwilch	G	T	9: 64,060,857 (GRCm39)	Q332K	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
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'- TTAACGGTGTCACACGTACAG -3'
(R):5'- CGTTCTCTGAGCCTCAGTTG -3'

Sequencing Primer
(F):5'- CGGTGTCACACGTACAGAACTG -3'
(R):5'- GAGCCTCAGTTGCTCGTTTATAAATG -3'

Posted On

2014-09-17