Mutagenetix > Incidental Mutation

Incidental Mutation 'R4491:Hbb-bh2'

330729

Institutional Source

Beutler Lab

Gene Symbol

Hbb-bh2

Ensembl Gene

ENSMUSG00000078621

Gene Name

hemoglobin beta, bh2

Synonyms

Gm5736

MMRRC Submission

041747-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4491 (G1)

Quality Score

130

Status

Validated

Chromosome

Chromosomal Location

103488331-103489727 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 103489622 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 5 (T5A)

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: T5A

PolyPhen 2 Score 0.077 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000102479
Gene: ENSMUSG00000078621
AA Change: T5A

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: 97.1%
20x: 94.8%

Validation Efficiency

98% (64/65)

Allele List at MGI

Other mutations in this stock

Total: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
0610040J01Rik	C	A	5: 64,055,812 (GRCm39)	P183T	probably damaging	Het
Bcan	G	A	3: 87,897,540 (GRCm39)	R682*	probably null	Het
Bzw1	T	A	1: 58,443,418 (GRCm39)	L410Q	probably damaging	Het
Cdh5	A	T	8: 104,839,672 (GRCm39)	I48F	probably damaging	Het
Cdhr5	T	C	7: 140,853,970 (GRCm39)	N173D	possibly damaging	Het
Cfap74	T	C	4: 155,513,628 (GRCm39)	M480T	probably benign	Het
Col6a5	C	T	9: 105,817,211 (GRCm39)	A367T	unknown	Het
Cpsf1	A	C	15: 76,481,922 (GRCm39)	Y1064D	possibly damaging	Het
Defb6	A	T	8: 19,278,090 (GRCm39)	H54L	probably benign	Het
Dmtf1	A	G	5: 9,190,379 (GRCm39)		probably benign	Het
Dnah12	T	C	14: 26,455,758 (GRCm39)	L827S	possibly damaging	Het
Dnai4	T	C	4: 102,923,596 (GRCm39)	E411G	probably benign	Het
Dsc3	T	C	18: 20,134,922 (GRCm39)	T21A	probably benign	Het
Epb41l1	G	T	2: 156,364,088 (GRCm39)	D866Y	probably benign	Het
Epha1	T	C	6: 42,337,600 (GRCm39)	M860V	probably damaging	Het
Far2	T	C	6: 148,074,907 (GRCm39)	L380P	possibly damaging	Het
Fgd5	A	G	6: 91,966,280 (GRCm39)	I680V	possibly damaging	Het
Fnbp4	T	C	2: 90,583,312 (GRCm39)		probably null	Het
Focad	G	A	4: 88,278,142 (GRCm39)		probably null	Het
Gm14180	T	A	11: 99,621,139 (GRCm39)		probably benign	Het
Ighv7-2	A	G	12: 113,876,100 (GRCm39)	F2L	probably benign	Het
Igsf5	A	G	16: 96,165,281 (GRCm39)	T19A	probably benign	Het
Kcnd3	C	T	3: 105,566,082 (GRCm39)	A421V	probably damaging	Het
Klb	A	G	5: 65,533,137 (GRCm39)	N482S	probably benign	Het
Lipo2	A	C	19: 33,699,100 (GRCm39)	L310R	probably damaging	Het
Mc3r	A	G	2: 172,091,123 (GRCm39)	H115R	possibly damaging	Het
Meioc	A	G	11: 102,565,746 (GRCm39)	D398G	possibly damaging	Het
Or10ag60	G	A	2: 87,437,736 (GRCm39)	M1I	probably null	Het
Or56a5	A	T	7: 104,792,983 (GRCm39)	C172*	probably null	Het
Or7a37	T	C	10: 78,806,151 (GRCm39)	S223P	probably damaging	Het
Pds5a	T	C	5: 65,792,780 (GRCm39)	T718A	probably benign	Het
Pdzd2	C	T	15: 12,385,723 (GRCm39)	D1016N	possibly damaging	Het
Pla2g2c	T	C	4: 138,461,719 (GRCm39)		probably null	Het
Plch1	T	C	3: 63,648,160 (GRCm39)	I404V	probably damaging	Het
Pou2af3	A	G	9: 51,181,955 (GRCm39)	F206L	probably benign	Het
Ppp2r5c	A	T	12: 110,546,956 (GRCm39)	D522V	possibly damaging	Het
Prex2	T	A	1: 11,232,487 (GRCm39)	S851R	probably benign	Het
Rapgef1	C	T	2: 29,609,668 (GRCm39)	P702S	possibly damaging	Het
Rasal3	T	A	17: 32,610,359 (GRCm39)	D976V	probably damaging	Het
Rasef	A	C	4: 73,652,740 (GRCm39)	L587R	probably damaging	Het
Rptn	A	T	3: 93,303,818 (GRCm39)	R384*	probably null	Het
Sema6a	G	A	18: 47,439,524 (GRCm39)		probably benign	Het
Sycp2	G	T	2: 178,016,778 (GRCm39)	T608K	probably damaging	Het
Syde1	C	T	10: 78,426,062 (GRCm39)	R35H	probably benign	Het
Taf1	G	T	X: 100,586,665 (GRCm39)	M313I	possibly damaging	Het
Taf15	A	T	11: 83,375,520 (GRCm39)	T31S	probably benign	Het
Tktl2	T	C	8: 66,964,664 (GRCm39)	V74A	probably damaging	Het
Tle4	A	G	19: 14,432,229 (GRCm39)	V489A	probably damaging	Het
Tmem30a	T	C	9: 79,684,567 (GRCm39)	H95R	probably damaging	Het
Trmt9b	G	A	8: 36,972,760 (GRCm39)	C70Y	probably damaging	Het
Vmn1r75	C	A	7: 11,614,909 (GRCm39)	Q214K	probably damaging	Het
Vps13c	C	T	9: 67,817,475 (GRCm39)	T1049M	probably benign	Het
Zfp37	T	C	4: 62,110,365 (GRCm39)	Q274R	probably benign	Het
Zfp648	T	G	1: 154,080,873 (GRCm39)	L344R	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
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'- GGTGTGTGGATAAACCGTCAG -3'
(R):5'- AGCCAGCTAGTGTAAACTGGAG -3'

Sequencing Primer
(F):5'- CCGTCAGTATTCTAGCAAGTGAAGC -3'
(R):5'- GTGGATATATCTTTCATTCACAAGCC -3'

Posted On

2015-07-21