Mutagenetix > Incidental Mutation

Incidental Mutation 'R4011:Hbb-bh2'

311692

Institutional Source

Beutler Lab

Gene Symbol

Hbb-bh2

Ensembl Gene

ENSMUSG00000078621

Gene Name

hemoglobin beta, bh2

Synonyms

Gm5736

MMRRC Submission

040948-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4011 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

103488331-103489727 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 103489416 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Leucine at position 45 (H45L)

Ref Sequence

ENSEMBL: ENSMUSP00000102479 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000063957] [ENSMUST00000106866]

AlphaFold

B2RVB7

Predicted Effect

probably benign
Transcript: ENSMUST00000063957

SMART Domains

Protein: ENSMUSP00000064865
Gene: ENSMUSG00000052217

Domain	Start	End	E-Value	Type
Pfam:Globin	8	112	4.2e-31	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000106866
AA Change: H45L

PolyPhen 2 Score 0.215 (Sensitivity: 0.92; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000102479
Gene: ENSMUSG00000078621
AA Change: H45L

Domain	Start	End	E-Value	Type
Pfam:Globin	8	112	1.9e-25	PFAM

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.9%
20x: 93.7%

Validation Efficiency

100% (43/43)

Allele List at MGI

Other mutations in this stock

Total: 43 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca13	G	A	11: 9,572,013 (GRCm39)		probably benign	Het
Acss2	T	A	2: 155,399,548 (GRCm39)	L529Q	probably damaging	Het
Adsl	T	C	15: 80,850,357 (GRCm39)	S359P	probably benign	Het
C1qtnf1	G	A	11: 118,337,365 (GRCm39)	G65D	probably benign	Het
Chd1l	A	T	3: 97,477,718 (GRCm39)	M679K	probably benign	Het
Cspg4	A	G	9: 56,794,601 (GRCm39)	T779A	probably benign	Het
Ddx18	T	C	1: 121,489,810 (GRCm39)	I200V	probably benign	Het
Dnah9	T	A	11: 65,725,290 (GRCm39)	M4288L	probably damaging	Het
F830045P16Rik	A	T	2: 129,305,467 (GRCm39)	N302K	probably damaging	Het
Gas1	T	G	13: 60,323,791 (GRCm39)	D322A	unknown	Het
Gfm2	T	A	13: 97,279,608 (GRCm39)		probably benign	Het
Gm5592	G	T	7: 40,938,934 (GRCm39)	V739L	probably benign	Het
Ifit2	G	T	19: 34,551,445 (GRCm39)	M328I	probably benign	Het
Igdcc4	T	C	9: 65,042,761 (GRCm39)	V1237A	probably benign	Het
Kat2b	G	A	17: 53,951,769 (GRCm39)		probably null	Het
Lmtk2	A	G	5: 144,112,697 (GRCm39)	N1139S	probably benign	Het
Map1a	G	A	2: 121,130,608 (GRCm39)	A475T	probably damaging	Het
Map3k20	G	A	2: 72,214,468 (GRCm39)		probably benign	Het
Mga	T	C	2: 119,762,261 (GRCm39)	V1084A	probably damaging	Het
Msantd5f6	T	C	4: 73,320,047 (GRCm39)	Y244C	probably damaging	Het
Myo3b	A	G	2: 69,926,720 (GRCm39)	I5V	probably benign	Het
Or10a3m	A	T	7: 108,313,366 (GRCm39)	I269L	probably benign	Het
Or10ag56	A	G	2: 87,139,555 (GRCm39)	I141V	probably benign	Het
Or10ag57	A	T	2: 87,218,924 (GRCm39)	I292F	possibly damaging	Het
Or56b1	A	G	7: 104,285,555 (GRCm39)	T225A	probably benign	Het
Or5h24	G	A	16: 58,919,124 (GRCm39)	T77I	unknown	Het
Or5v1	T	C	17: 37,810,382 (GRCm39)	V280A	possibly damaging	Het
Osmr	G	T	15: 6,854,014 (GRCm39)	R565S	probably benign	Het
Pcolce	G	T	5: 137,604,036 (GRCm39)	Q344K	probably benign	Het
Prdm11	A	G	2: 92,843,175 (GRCm39)	F95L	probably damaging	Het
Psd2	C	T	18: 36,120,300 (GRCm39)	T383I	probably benign	Het
Reg3a	G	A	6: 78,360,553 (GRCm39)	D164N	probably damaging	Het
Serpina3a	A	T	12: 104,084,902 (GRCm39)	D99V	probably benign	Het
Sgce	G	T	6: 4,691,563 (GRCm39)	Y301*	probably null	Het
Slc28a3	T	C	13: 58,714,064 (GRCm39)	K434E	probably benign	Het
Slc30a3	A	G	5: 31,244,203 (GRCm39)	F360L	probably damaging	Het
Tdpoz3	A	T	3: 93,733,550 (GRCm39)	Y75F	possibly damaging	Het
Trim65	A	G	11: 116,018,529 (GRCm39)	F249L	probably benign	Het
Tubgcp3	A	T	8: 12,689,634 (GRCm39)	L544*	probably null	Het
Vit	C	T	17: 78,842,121 (GRCm39)		probably benign	Het
Wdfy4	C	A	14: 32,824,637 (GRCm39)		probably benign	Het
Xpo6	T	C	7: 125,739,780 (GRCm39)	K431E	probably benign	Het
Xrn1	T	A	9: 95,867,278 (GRCm39)	Y545*	probably null	Het

Other mutations in Hbb-bh2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R0179:Hbb-bh2	UTSW	7	103,488,434 (GRCm39)	missense	probably benign	0.05
R0854:Hbb-bh2	UTSW	7	103,489,272 (GRCm39)	missense	probably damaging	1.00
R1676:Hbb-bh2	UTSW	7	103,488,362 (GRCm39)	missense	probably null	0.02
R1701:Hbb-bh2	UTSW	7	103,489,450 (GRCm39)	missense	probably benign	0.19
R1816:Hbb-bh2	UTSW	7	103,489,585 (GRCm39)	missense	possibly damaging	0.86
R4491:Hbb-bh2	UTSW	7	103,489,622 (GRCm39)	missense	probably benign	0.08
R4882:Hbb-bh2	UTSW	7	103,488,455 (GRCm39)	missense	probably damaging	1.00
R9504:Hbb-bh2	UTSW	7	103,489,339 (GRCm39)	missense	probably damaging	1.00
R9780:Hbb-bh2	UTSW	7	103,489,624 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- ACTCACCTTGAAGTTCTCAGGATC -3'
(R):5'- TATGGTGGAGCTCACTGCAG -3'

Sequencing Primer
(F):5'- CAGGATCCATATGAAGCTTGTCATGG -3'
(R):5'- ATCACTGCCACGTGGACTAAGG -3'

Posted On

2015-04-29