Mutagenetix > Incidental Mutation

Incidental Mutation 'R1358:Hebp2'

156225

Institutional Source

Beutler Lab

Gene Symbol

Hebp2

Ensembl Gene

ENSMUSG00000019853

Gene Name

heme binding protein 2

Synonyms

SOUL

MMRRC Submission

039423-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.115) question?

Stock #

R1358 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

18415871-18421824 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 18420163 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Lysine at position 90 (T90K)

Ref Sequence

ENSEMBL: ENSMUSP00000150459 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000020000] [ENSMUST00000213153] [ENSMUST00000214548]

AlphaFold

Q9WU63

Predicted Effect

possibly damaging
Transcript: ENSMUST00000020000
AA Change: T90K

PolyPhen 2 Score 0.697 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000020000
Gene: ENSMUSG00000019853
AA Change: T90K

Domain	Start	End	E-Value	Type
Pfam:SOUL	20	195	1.7e-42	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000213153
AA Change: T90K

PolyPhen 2 Score 0.911 (Sensitivity: 0.81; Specificity: 0.94)

Predicted Effect

probably benign
Transcript: ENSMUST00000214548
AA Change: T90K

PolyPhen 2 Score 0.189 (Sensitivity: 0.92; Specificity: 0.87)

Meta Mutation Damage Score

0.4320

Coding Region Coverage

1x: 98.5%
3x: 97.1%
10x: 92.2%
20x: 80.4%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is found predominately in the cytoplasm, where it plays a role in the collapse of mitochondrial membrane potential (MMP) prior to necrotic cell death. The encoded protein enhances outer and inner mitochondrial membrane permeabilization, especially under conditions of oxidative stress. [provided by RefSeq, May 2016]

Allele List at MGI

Other mutations in this stock

Total: 10 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4921517D22Rik	GCC	GC	13: 59,839,412 (GRCm39)		probably null	Het
F5	G	C	1: 164,026,486 (GRCm39)	R1686P	probably damaging	Het
Helz2	G	A	2: 180,874,774 (GRCm39)	R1907C	probably damaging	Het
Kcnj12	C	A	11: 60,960,713 (GRCm39)	P235H	probably benign	Het
Rnase2b	G	A	14: 51,400,146 (GRCm39)	V76I	probably damaging	Het
Slc52a2	G	A	15: 76,424,269 (GRCm39)	R169H	probably benign	Het
Spopfm1	A	G	3: 94,173,102 (GRCm39)	M37V	probably benign	Het
Sptb	CTT	CTTT	12: 76,668,095 (GRCm39)		probably null	Het
Sptb	C	T	12: 76,668,100 (GRCm39)	G666S	probably damaging	Het
Vmn2r39	A	T	7: 9,026,687 (GRCm39)	F438Y	possibly damaging	Het

Other mutations in Hebp2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R1026:Hebp2	UTSW	10	18,420,163 (GRCm39)	missense	possibly damaging	0.91
R1360:Hebp2	UTSW	10	18,420,163 (GRCm39)	missense	possibly damaging	0.91
R1529:Hebp2	UTSW	10	18,421,509 (GRCm39)	missense	possibly damaging	0.77
R1555:Hebp2	UTSW	10	18,420,163 (GRCm39)	missense	possibly damaging	0.91
R1679:Hebp2	UTSW	10	18,420,163 (GRCm39)	missense	possibly damaging	0.91
R1757:Hebp2	UTSW	10	18,420,849 (GRCm39)	missense	probably damaging	1.00
R2125:Hebp2	UTSW	10	18,417,008 (GRCm39)	missense	probably benign	0.16
R4969:Hebp2	UTSW	10	18,420,122 (GRCm39)	missense	probably benign	0.14
R5360:Hebp2	UTSW	10	18,420,055 (GRCm39)	missense	probably benign	0.00
R5758:Hebp2	UTSW	10	18,420,155 (GRCm39)	missense	probably damaging	1.00
R7677:Hebp2	UTSW	10	18,421,547 (GRCm39)	start gained	probably benign

Predicted Primers

PCR Primer
(F):5'- CGCACGAACACCGTCATTTCAG -3'
(R):5'- CAAGTCTCTTCGCCTTAGGACCAC -3'

Sequencing Primer
(F):5'- GAACACCGTCATTTCAGCTCTG -3'
(R):5'- GAGTAATGTGTCATTCTACCACTACC -3'

Posted On

2014-02-11