Mutagenetix > Incidental Mutation

Incidental Mutation 'R4585:Hap1'

344041

Institutional Source

Beutler Lab

Gene Symbol

Hap1

Ensembl Gene

ENSMUSG00000006930

Gene Name

huntingtin-associated protein 1

Synonyms

HAP-1

MMRRC Submission

041806-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.801) question?

Stock #

R4585 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

100238153-100246954 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 100245550 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Methionine at position 138 (T138M)

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: T138M

PolyPhen 2 Score 0.214 (Sensitivity: 0.92; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000099413
Gene: ENSMUSG00000006930
AA Change: T138M

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: T138M

PolyPhen 2 Score 0.214 (Sensitivity: 0.92; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000133356
Gene: ENSMUSG00000006930
AA Change: T138M

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

probably benign
Transcript: ENSMUST00000173630

SMART Domains

Protein: ENSMUSP00000134050
Gene: ENSMUSG00000006930

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

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 97.1%
20x: 94.8%

Validation Efficiency

99% (90/91)

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: 84 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Akap9	T	C	5: 4,026,151 (GRCm39)	S1269P	probably benign	Het
Akr7a5	G	T	4: 139,038,238 (GRCm39)	R58L	probably benign	Het
Art2a	A	T	7: 101,203,956 (GRCm39)	L194*	probably null	Het
Aurkaip1	C	A	4: 155,917,091 (GRCm39)	A113D	possibly damaging	Het
Bsn	T	C	9: 107,987,662 (GRCm39)		probably benign	Het
Ccdc175	T	G	12: 72,221,953 (GRCm39)	D123A	possibly damaging	Het
Ccdc7b	A	G	8: 129,837,401 (GRCm39)	T131A	probably benign	Het
Ccnt2	T	C	1: 127,730,766 (GRCm39)	S548P	probably damaging	Het
Cep126	T	C	9: 8,103,338 (GRCm39)	Q224R	probably damaging	Het
Cic	A	T	7: 24,972,203 (GRCm39)	I645L	probably benign	Het
Cngb1	C	T	8: 96,023,756 (GRCm39)		probably null	Het
Col13a1	T	C	10: 61,723,024 (GRCm39)		probably null	Het
Corin	A	T	5: 72,487,042 (GRCm39)	V706D	probably damaging	Het
Crebrf	A	G	17: 26,981,229 (GRCm39)	K535R	probably damaging	Het
Cuzd1	G	A	7: 130,916,529 (GRCm39)	P310L	probably damaging	Het
Cxcr5	T	A	9: 44,425,442 (GRCm39)	I72F	probably benign	Het
Dapp1	T	C	3: 137,644,932 (GRCm39)	Q148R	probably benign	Het
Dcaf17	T	A	2: 70,918,924 (GRCm39)	S499R	probably benign	Het
Defb3	A	T	8: 19,345,172 (GRCm39)	I43F	possibly damaging	Het
Dlgap2	G	A	8: 14,777,999 (GRCm39)		probably null	Het
Dnah8	A	G	17: 30,970,541 (GRCm39)	D2684G	probably benign	Het
Dnajc10	T	G	2: 80,178,122 (GRCm39)	F710V	probably damaging	Het
Ep400	G	A	5: 110,901,725 (GRCm39)	T464I	probably damaging	Het
Epc1	G	A	18: 6,441,157 (GRCm39)	Q14*	probably null	Het
Eral1	A	T	11: 77,969,130 (GRCm39)	N123K	probably damaging	Het
Ercc5	G	A	1: 44,198,017 (GRCm39)	V145I	probably benign	Het
Evc	A	G	5: 37,481,057 (GRCm39)	S263P	probably damaging	Het
Fancc	A	T	13: 63,495,378 (GRCm39)	M182K	probably benign	Het
Fbxl3	G	T	14: 103,320,526 (GRCm39)	A355E	probably damaging	Het
Glra3	C	A	8: 56,542,028 (GRCm39)	T257K	probably damaging	Het
Gm12789	A	G	4: 101,847,159 (GRCm39)	Y148C	possibly damaging	Het
Gm14393	C	A	2: 174,904,497 (GRCm39)		probably benign	Het
Gm19965	T	A	1: 116,749,508 (GRCm39)	N396K	probably benign	Het
Gm27013	A	T	6: 130,498,003 (GRCm39)		noncoding transcript	Het
Gmcl1	A	G	6: 86,699,605 (GRCm39)	S141P	probably damaging	Het
Gsdmd	T	A	15: 75,737,600 (GRCm39)		probably null	Het
Gtf2a1	C	T	12: 91,529,700 (GRCm39)	V338I	possibly damaging	Het
H2ac15	T	C	13: 21,937,882 (GRCm39)	N39S	possibly damaging	Het
Ints2	G	T	11: 86,140,101 (GRCm39)	R244S	probably damaging	Het
Itgb4	T	C	11: 115,884,151 (GRCm39)	V945A	probably damaging	Het
Itih2	C	T	2: 10,115,211 (GRCm39)	S387N	probably benign	Het
Klra2	T	A	6: 131,207,120 (GRCm39)	D163V	probably benign	Het
Lctl	T	C	9: 64,038,882 (GRCm39)	S324P	probably damaging	Het
Lrrc24	C	A	15: 76,607,889 (GRCm39)	R43L	probably damaging	Het
Mogs	G	T	6: 83,095,619 (GRCm39)	R812L	possibly damaging	Het
Mroh5	T	A	15: 73,661,120 (GRCm39)	T467S	probably benign	Het
Mtap	G	A	4: 89,090,511 (GRCm39)	V194I	probably benign	Het
Myoz1	A	G	14: 20,700,663 (GRCm39)	W185R	probably damaging	Het
Nufip2	T	C	11: 77,632,554 (GRCm39)	V690A	unknown	Het
Obox1	A	T	7: 15,290,152 (GRCm39)	N165I	possibly damaging	Het
Or1j1	C	T	2: 36,702,537 (GRCm39)	C189Y	probably damaging	Het
Or4b1d	T	A	2: 89,968,558 (GRCm39)	E308D	probably benign	Het
Or4c113	T	G	2: 88,885,498 (GRCm39)	I91L	possibly damaging	Het
Or6c35	A	G	10: 129,169,142 (GRCm39)	T131A	probably benign	Het
Pabpc6	A	G	17: 9,888,002 (GRCm39)	L183P	probably damaging	Het
Pcdh15	C	T	10: 74,460,116 (GRCm39)	R1355W	probably damaging	Het
Pcdhgb8	C	A	18: 37,895,413 (GRCm39)	A161E	probably benign	Het
Pex1	A	G	5: 3,683,885 (GRCm39)	Y1127C	probably damaging	Het
Phc2	A	T	4: 128,637,303 (GRCm39)	H563L	probably damaging	Het
Plekha2	C	A	8: 25,533,685 (GRCm39)	E291*	probably null	Het
Qser1	C	A	2: 104,617,138 (GRCm39)	V1225L	probably benign	Het
Ralgapa2	A	T	2: 146,156,944 (GRCm39)	D1882E	probably damaging	Het
Rgs17	T	C	10: 5,792,596 (GRCm39)	D70G	probably benign	Het
Runx1t1	A	T	4: 13,889,864 (GRCm39)	T598S	unknown	Het
Scn2a	T	A	2: 65,573,395 (GRCm39)		probably null	Het
Serpinb10	T	A	1: 107,474,779 (GRCm39)	C314S	probably benign	Het
Setbp1	A	C	18: 79,130,164 (GRCm39)	S23A	probably benign	Het
Sh3pxd2b	A	G	11: 32,346,479 (GRCm39)	D116G	possibly damaging	Het
Slc4a1	G	T	11: 102,252,245 (GRCm39)		probably benign	Het
Snx19	T	C	9: 30,351,491 (GRCm39)	L155P	probably damaging	Het
Sox2	A	G	3: 34,705,193 (GRCm39)	N210S	probably benign	Het
Spag6	T	C	2: 18,736,958 (GRCm39)		probably null	Het
Speer4b	A	T	5: 27,703,036 (GRCm39)	L154Q	probably null	Het
Strn3	T	A	12: 51,696,953 (GRCm39)	E259D	probably benign	Het
Tenm1	G	A	X: 41,626,856 (GRCm39)	Q1931*	probably null	Het
Trp53bp1	C	G	2: 121,038,432 (GRCm39)	G1469R	probably damaging	Het
Ttc8	C	A	12: 98,948,789 (GRCm39)	Q492K	probably benign	Het
Ttn	T	C	2: 76,798,747 (GRCm39)	H509R	probably benign	Het
Utrn	T	A	10: 12,564,050 (GRCm39)	H1270L	probably benign	Het
Vopp1	G	A	6: 57,731,533 (GRCm39)	P153S	probably damaging	Het
Wdfy4	T	A	14: 32,809,912 (GRCm39)	I1770F	possibly damaging	Het
Zfp14	G	T	7: 29,738,341 (GRCm39)	Q215K	probably damaging	Het
Zfp473	A	T	7: 44,382,376 (GRCm39)	Y651*	probably null	Het
Zfp735	G	T	11: 73,580,550 (GRCm39)	E16D	possibly 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
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
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'- GATTGGTCCTCTGTAATCTACTTGC -3'
(R):5'- TTTGCCTTTACAGCATCCAGG -3'

Sequencing Primer
(F):5'- TTGCCTTCCAGGAAAGGGG -3'
(R):5'- AGGCCCCTCCTGAGAAAG -3'

Posted On

2015-09-24