Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00484:Hapstr1'

5801

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Hapstr1

Ensembl Gene

ENSMUSG00000022507

Gene Name

HUWE1 associated protein modifying stress responses

Synonyms

1810013L24Rik

Accession Numbers

Essential gene?

Probably essential (E-score: 0.907) question?

Stock #

IGL00484

Quality Score

Status

Chromosome

Chromosomal Location

8647964-8676786 bp(+) (GRCm39)

Type of Mutation

unclassified

DNA Base Change (assembly)

T to C at 8649175 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Gene Model

predicted gene model for transcript(s): [ENSMUST00000023150]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000023150

SMART Domains

Protein: ENSMUSP00000023150
Gene: ENSMUSG00000022507

Domain	Start	End	E-Value	Type
Pfam:DUF4588	25	273	8.6e-107	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000229318

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgra1	A	G	7: 139,455,860 (GRCm39)	Q496R	probably benign	Het
Ankrd17	A	T	5: 90,416,220 (GRCm39)	S1151T	probably damaging	Het
Ankrd55	A	G	13: 112,504,328 (GRCm39)	K330R	probably benign	Het
Anln	A	T	9: 22,272,120 (GRCm39)	Y666*	probably null	Het
Atp1a2	A	G	1: 172,103,569 (GRCm39)	W984R	probably damaging	Het
Atp8b3	G	T	10: 80,361,998 (GRCm39)		probably benign	Het
Casc3	A	G	11: 98,714,028 (GRCm39)	E420G	possibly damaging	Het
Cep250	G	A	2: 155,833,249 (GRCm39)	D1724N	probably benign	Het
Dhx15	T	G	5: 52,324,154 (GRCm39)	E379D	probably benign	Het
Dock1	T	A	7: 134,748,260 (GRCm39)		probably benign	Het
Exph5	C	T	9: 53,288,006 (GRCm39)	Q1696*	probably null	Het
Fkbp6	C	A	5: 135,368,802 (GRCm39)	A213S	possibly damaging	Het
Fndc4	A	G	5: 31,450,840 (GRCm39)		probably benign	Het
Gli3	A	T	13: 15,818,977 (GRCm39)	T260S	possibly damaging	Het
Glmp	T	A	3: 88,233,169 (GRCm39)		probably null	Het
H2ac22	G	T	13: 21,971,091 (GRCm39)	R100S	probably benign	Het
Ighv1-19	G	A	12: 114,672,329 (GRCm39)	T97I	probably benign	Het
Kdm6b	T	C	11: 69,297,132 (GRCm39)	S407G	possibly damaging	Het
Lrp1b	T	C	2: 41,000,873 (GRCm39)	Y2231C	probably damaging	Het
Lyst	T	A	13: 13,884,188 (GRCm39)	S2999T	probably benign	Het
Lztr1	T	C	16: 17,335,314 (GRCm39)		probably benign	Het
N4bp2	T	C	5: 65,964,867 (GRCm39)	V972A	probably damaging	Het
Ncoa6	A	T	2: 155,248,128 (GRCm39)	S1725R	probably damaging	Het
Nfkbiz	A	G	16: 55,638,272 (GRCm39)	V396A	probably benign	Het
Nup205	A	G	6: 35,191,737 (GRCm39)	Q1074R	probably damaging	Het
Pard3	T	C	8: 128,098,327 (GRCm39)	V456A	probably benign	Het
Peli1	T	A	11: 21,096,952 (GRCm39)	V114E	probably damaging	Het
Phf20l1	T	G	15: 66,487,482 (GRCm39)		probably benign	Het
Pik3r1	A	C	13: 101,838,255 (GRCm39)	I267S	probably benign	Het
Polh	C	T	17: 46,483,169 (GRCm39)		probably benign	Het
Ppl	A	G	16: 4,905,816 (GRCm39)	I1493T	probably benign	Het
Pramel19	T	C	4: 101,798,898 (GRCm39)	F290L	probably benign	Het
Pramel28	G	A	4: 143,693,184 (GRCm39)		probably benign	Het
Prg3	A	G	2: 84,819,091 (GRCm39)	I6V	probably benign	Het
Ptprg	T	C	14: 12,215,220 (GRCm38)	V1069A	probably damaging	Het
Rasal2	A	T	1: 157,001,745 (GRCm39)		probably null	Het
Slc36a2	A	T	11: 55,053,614 (GRCm39)	Y341*	probably null	Het
Snapc3	A	G	4: 83,354,633 (GRCm39)	I215V	probably damaging	Het
Srrm2	T	A	17: 24,037,492 (GRCm39)	S1475T	probably benign	Het
Sycp2	A	T	2: 178,024,141 (GRCm39)	D414E	probably damaging	Het
Tanc1	A	G	2: 59,623,520 (GRCm39)	T468A	probably benign	Het
Tfap2d	A	G	1: 19,213,105 (GRCm39)	T310A	probably benign	Het
Tgfbr2	T	A	9: 115,987,357 (GRCm39)	I51F	probably benign	Het
Trip11	A	T	12: 101,851,570 (GRCm39)	C546*	probably null	Het
Ttbk2	C	T	2: 120,604,367 (GRCm39)	W210*	probably null	Het
Upk1b	T	G	16: 38,600,378 (GRCm39)	N201H	possibly damaging	Het
Uqcc5	T	A	14: 30,810,879 (GRCm39)		probably benign	Het
Ush2a	A	T	1: 188,514,710 (GRCm39)	T3180S	probably benign	Het
Vps13d	T	G	4: 144,853,145 (GRCm39)	Q2323P	probably benign	Het
Zfp810	A	T	9: 22,189,605 (GRCm39)	Y434*	probably null	Het

Other mutations in Hapstr1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL03284:Hapstr1	APN	16	8,673,786 (GRCm39)	missense	possibly damaging	0.92
Unnoticeable	UTSW	16	8,660,966 (GRCm39)	missense	probably damaging	1.00
R1966:Hapstr1	UTSW	16	8,648,445 (GRCm39)	missense	possibly damaging	0.85
R3816:Hapstr1	UTSW	16	8,648,358 (GRCm39)	missense	probably damaging	1.00
R5049:Hapstr1	UTSW	16	8,661,073 (GRCm39)	missense	probably damaging	1.00
R5490:Hapstr1	UTSW	16	8,673,721 (GRCm39)	missense	probably damaging	0.97
R6735:Hapstr1	UTSW	16	8,673,764 (GRCm39)	missense	probably benign	0.01
R6922:Hapstr1	UTSW	16	8,648,553 (GRCm39)	splice site	probably null
R7720:Hapstr1	UTSW	16	8,660,966 (GRCm39)	missense	probably damaging	1.00
R8057:Hapstr1	UTSW	16	8,648,232 (GRCm39)	unclassified	probably benign
R8789:Hapstr1	UTSW	16	8,660,865 (GRCm39)	missense	probably benign	0.02
R9200:Hapstr1	UTSW	16	8,673,898 (GRCm39)	missense	possibly damaging	0.84

Posted On

2012-04-20