Mutagenetix > Incidental Mutation

Incidental Mutation 'R5490:Hapstr1'

432059

Institutional Source

Beutler Lab

Gene Symbol

Hapstr1

Ensembl Gene

ENSMUSG00000022507

Gene Name

HUWE1 associated protein modifying stress responses

Synonyms

1810013L24Rik

MMRRC Submission

043051-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.916) question?

Stock #

R5490 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

8647964-8676786 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 8673721 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Glutamic Acid at position 216 (V216E)

Ref Sequence

ENSEMBL: ENSMUSP00000023150 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000023150
AA Change: V216E

PolyPhen 2 Score 0.969 (Sensitivity: 0.77; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000023150
Gene: ENSMUSG00000022507
AA Change: V216E

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

Coding Region Coverage

1x: 98.3%
3x: 97.3%
10x: 95.2%
20x: 90.8%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 47 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aatf	C	T	11: 84,401,099 (GRCm39)	G174D	probably damaging	Het
Abcc1	G	T	16: 14,228,781 (GRCm39)	G343C	probably damaging	Het
Asic2	T	C	11: 80,780,646 (GRCm39)	N370S	probably benign	Het
Btnl9	T	C	11: 49,060,395 (GRCm39)	E451G	probably damaging	Het
Cblb	A	G	16: 51,994,733 (GRCm39)	H658R	possibly damaging	Het
Cdca2	T	C	14: 67,917,733 (GRCm39)	E555G	possibly damaging	Het
Chfr	A	G	5: 110,300,995 (GRCm39)	S299G	possibly damaging	Het
Eea1	A	G	10: 95,861,916 (GRCm39)	E741G	probably benign	Het
Gapvd1	T	C	2: 34,583,445 (GRCm39)	D1057G	probably benign	Het
Glyat	C	T	19: 12,627,645 (GRCm39)	T80M	probably benign	Het
Gpr87	T	C	3: 59,086,747 (GRCm39)	S253G	probably damaging	Het
Hmgxb3	A	G	18: 61,296,049 (GRCm39)	S320P	probably damaging	Het
Kcnq5	C	T	1: 21,549,692 (GRCm39)	G345D	probably damaging	Het
Kif5c	T	C	2: 49,648,870 (GRCm39)	V938A	probably benign	Het
Klk14	G	A	7: 43,341,501 (GRCm39)	C51Y	probably damaging	Het
Madd	G	T	2: 91,000,980 (GRCm39)	T467K	possibly damaging	Het
Mamdc4	T	C	2: 25,455,890 (GRCm39)	D706G	probably damaging	Het
Map2	A	G	1: 66,452,292 (GRCm39)	H476R	probably damaging	Het
Mgat4f	A	G	1: 134,317,666 (GRCm39)	D146G	probably damaging	Het
Mpeg1	T	C	19: 12,439,057 (GRCm39)	S172P	probably damaging	Het
Nkx2-3	A	T	19: 43,601,093 (GRCm39)	T52S	probably benign	Het
Nup210	C	T	6: 91,062,970 (GRCm39)	V230I	probably damaging	Het
Or1j19	T	A	2: 36,677,193 (GRCm39)	Y219N	probably damaging	Het
Or51f2	T	C	7: 102,527,100 (GRCm39)	S258P	probably damaging	Het
Or5g9	G	T	2: 85,552,666 (GRCm39)	A306S	probably benign	Het
Pepd	A	G	7: 34,642,115 (GRCm39)		probably null	Het
Ppp1r36	T	A	12: 76,484,760 (GRCm39)	W238R	probably damaging	Het
Ppp1r36	G	T	12: 76,484,761 (GRCm39)	W238L	possibly damaging	Het
Prpf6	T	G	2: 181,249,958 (GRCm39)	D39E	probably benign	Het
Rassf5	T	A	1: 131,108,932 (GRCm39)	Q163L	possibly damaging	Het
Rbm43	T	A	2: 51,815,607 (GRCm39)	T205S	probably benign	Het
Relch	T	A	1: 105,647,226 (GRCm39)	V672D	probably damaging	Het
Robo4	CGG	CG	9: 37,322,786 (GRCm39)		probably null	Het
Sds	C	A	5: 120,621,715 (GRCm39)	Q286K	possibly damaging	Het
Slc35a3	A	T	3: 116,474,839 (GRCm39)	C184*	probably null	Het
Smg1	G	A	7: 117,738,659 (GRCm39)	T3530I	possibly damaging	Het
Sspo	T	C	6: 48,470,214 (GRCm39)	V591A	probably benign	Het
Stam2	T	C	2: 52,610,929 (GRCm39)	D31G	probably damaging	Het
Star	A	G	8: 26,299,945 (GRCm39)	K96E	probably damaging	Het
Syne3	A	G	12: 104,921,931 (GRCm39)	L495P	probably damaging	Het
Tceanc2	A	T	4: 107,022,846 (GRCm39)	M47K	probably benign	Het
Tecpr2	T	C	12: 110,881,118 (GRCm39)	L85P	probably damaging	Het
Tmem241	C	T	18: 12,176,320 (GRCm39)	R116K	probably benign	Het
Yipf2	G	A	9: 21,503,487 (GRCm39)	A20V	probably benign	Het
Zc3h4	T	A	7: 16,162,930 (GRCm39)	D443E	unknown	Het
Zfp184	T	A	13: 22,142,747 (GRCm39)	V151D	probably benign	Het
Zhx1	T	C	15: 57,916,695 (GRCm39)	Y517C	probably damaging	Het

Other mutations in Hapstr1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00484:Hapstr1	APN	16	8,649,175 (GRCm39)	unclassified	probably benign
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
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

Predicted Primers

PCR Primer
(F):5'- TGTTAACTCACTGCCGACCC -3'
(R):5'- TGTGAAAATGTCTGCAGTTTAGAGC -3'

Sequencing Primer
(F):5'- GTTAACTCACTGCCGACCCCTTAG -3'
(R):5'- AATGTCTGCAGTTTAGAGCATTCTG -3'

Posted On

2016-10-05