Mutagenetix > Incidental Mutation

Incidental Mutation 'R4882:Hbb-bh2'

375330

Institutional Source

Beutler Lab

Gene Symbol

Hbb-bh2

Ensembl Gene

ENSMUSG00000078621

Gene Name

hemoglobin beta, bh2

Synonyms

Gm5736

MMRRC Submission

042490-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4882 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

103488331-103489727 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 103488455 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Glutamic Acid at position 114 (V114E)

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 damaging
Transcript: ENSMUST00000106866
AA Change: V114E

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000102479
Gene: ENSMUSG00000078621
AA Change: V114E

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

Meta Mutation Damage Score

0.6467

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 96.8%
20x: 93.9%

Validation Efficiency

98% (59/60)

Allele List at MGI

Other mutations in this stock

Total: 47 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acap3	A	G	4: 155,990,112 (GRCm39)	D764G	probably damaging	Het
Adgrg6	T	A	10: 14,310,081 (GRCm39)	I775F	possibly damaging	Het
Ahnak	T	A	19: 8,983,261 (GRCm39)	M1515K	probably damaging	Het
Aqp4	A	G	18: 15,531,311 (GRCm39)	V150A	possibly damaging	Het
Axdnd1	A	T	1: 156,223,129 (GRCm39)		probably null	Het
Bap1	C	T	14: 30,973,678 (GRCm39)		probably benign	Het
BB014433	A	G	8: 15,092,016 (GRCm39)	V279A	probably benign	Het
Cacng8	T	C	7: 3,460,669 (GRCm39)	Y151H	probably damaging	Het
Caskin1	T	C	17: 24,723,389 (GRCm39)	S726P	probably damaging	Het
Cd200	T	C	16: 45,217,380 (GRCm39)	T104A	probably benign	Het
Cdk12	C	T	11: 98,101,272 (GRCm39)	R377C	unknown	Het
Ceacam13	A	G	7: 17,746,997 (GRCm39)	H150R	probably benign	Het
Cebpzos	T	C	17: 79,227,220 (GRCm39)	Y65H	probably benign	Het
Cgnl1	T	A	9: 71,624,683 (GRCm39)	M630L	probably benign	Het
Dop1b	G	T	16: 93,549,802 (GRCm39)	R247L	possibly damaging	Het
Dqx1	A	G	6: 83,043,069 (GRCm39)		probably null	Het
Etaa1	T	C	11: 17,896,174 (GRCm39)	S648G	probably benign	Het
Flnb	A	G	14: 7,929,936 (GRCm38)	D2022G	possibly damaging	Het
Gpr158	T	A	2: 21,830,059 (GRCm39)	N701K	probably damaging	Het
H2-Eb2	C	T	17: 34,553,230 (GRCm39)	H139Y	probably benign	Het
Ifna9	T	A	4: 88,510,540 (GRCm39)	Q28L	probably benign	Het
Inca1	T	C	11: 70,579,566 (GRCm39)	T188A	probably benign	Het
Irf9	G	T	14: 55,846,496 (GRCm39)		probably benign	Het
Kdm1b	T	A	13: 47,214,369 (GRCm39)	H238Q	probably benign	Het
Lpin1	G	C	12: 16,588,537 (GRCm39)	F851L	probably damaging	Het
Map3k9	C	T	12: 81,770,936 (GRCm39)	R884Q	probably damaging	Het
Mcm3ap	C	T	10: 76,320,495 (GRCm39)	Q818*	probably null	Het
Mcm7	A	T	5: 138,164,173 (GRCm39)		probably null	Het
Npdc1	G	A	2: 25,298,957 (GRCm39)	D284N	probably damaging	Het
Nppa	G	T	4: 148,085,544 (GRCm39)	M50I	probably benign	Het
Opcml	G	A	9: 28,812,886 (GRCm39)	E193K	probably damaging	Het
Phf14	T	A	6: 11,988,756 (GRCm39)	N665K	possibly damaging	Het
Plekhh3	G	A	11: 101,056,009 (GRCm39)	A47V	probably damaging	Het
Plekhh3	T	A	11: 101,058,764 (GRCm39)	E156V	probably null	Het
Prpf19	T	C	19: 10,876,323 (GRCm39)		probably benign	Het
Rev3l	T	A	10: 39,697,456 (GRCm39)	V651E	possibly damaging	Het
Sgpl1	T	C	10: 60,948,044 (GRCm39)	N171S	probably damaging	Het
Shroom3	G	T	5: 93,090,945 (GRCm39)	V1151F	probably damaging	Het
Slx4	T	C	16: 3,798,860 (GRCm39)		probably null	Het
Smchd1	T	A	17: 71,665,234 (GRCm39)		probably benign	Het
Snca	A	G	6: 60,792,719 (GRCm39)	V63A	probably benign	Het
Taok3	A	T	5: 117,390,695 (GRCm39)	Q92L	probably damaging	Het
Uhrf1	T	C	17: 56,616,401 (GRCm39)	V73A	probably damaging	Het
Usp38	G	A	8: 81,708,606 (GRCm39)	Q991*	probably null	Het
Vmn2r96	T	A	17: 18,817,866 (GRCm39)	V673E	probably damaging	Het
Zan	A	G	5: 137,436,710 (GRCm39)	Y2048H	unknown	Het
Zfp759	T	A	13: 67,287,354 (GRCm39)	Y302N	probably damaging	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
R4011:Hbb-bh2	UTSW	7	103,489,416 (GRCm39)	missense	probably benign	0.22
R4491:Hbb-bh2	UTSW	7	103,489,622 (GRCm39)	missense	probably benign	0.08
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'- AAGCAGATTCTATGCCATGAGG -3'
(R):5'- CTGAACATCTTGTTAGAGTTGGAAC -3'

Sequencing Primer
(F):5'- ATGAGGATGGACACCCCC -3'
(R):5'- TAGTGGTAAAGAGAGAGCCTATCATC -3'

Posted On

2016-03-17