Mutagenetix > Incidental Mutation

Incidental Mutation 'R1701:Hbb-bh2'

189722

Institutional Source

Beutler Lab

Gene Symbol

Hbb-bh2

Ensembl Gene

ENSMUSG00000078621

Gene Name

hemoglobin beta, bh2

Synonyms

Gm5736

MMRRC Submission

039734-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1701 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

103488331-103489727 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 103489450 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 34 (T34A)

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: T34A

PolyPhen 2 Score 0.191 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000102479
Gene: ENSMUSG00000078621
AA Change: T34A

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

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.7%
20x: 93.8%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aadacl3	A	G	4: 144,190,142 (GRCm39)	L53P	probably damaging	Het
Acadsb	T	A	7: 131,026,213 (GRCm39)	F19I	probably benign	Het
Aldh3a2	C	T	11: 61,147,598 (GRCm39)	G303S	probably damaging	Het
Anks1b	T	C	10: 89,885,816 (GRCm39)	Y171H	probably damaging	Het
Anxa7	A	T	14: 20,510,229 (GRCm39)	I385N	probably damaging	Het
Astn1	A	T	1: 158,331,877 (GRCm39)	T324S	possibly damaging	Het
Ccdc88a	T	C	11: 29,427,427 (GRCm39)	V235A	possibly damaging	Het
Crhr2	T	C	6: 55,076,255 (GRCm39)	K258R	probably damaging	Het
Ctnnd1	T	C	2: 84,439,335 (GRCm39)	E786G	probably damaging	Het
Ctnnd2	G	A	15: 30,922,127 (GRCm39)	D918N	probably damaging	Het
Dnah9	A	G	11: 65,802,750 (GRCm39)	S200P	probably damaging	Het
Dot1l	T	C	10: 80,626,576 (GRCm39)	S1266P	possibly damaging	Het
Efemp1	A	G	11: 28,871,750 (GRCm39)	T422A	possibly damaging	Het
Fam135b	T	C	15: 71,331,578 (GRCm39)	H1137R	probably damaging	Het
Flot2	C	T	11: 77,940,373 (GRCm39)	S40L	possibly damaging	Het
Fras1	G	A	5: 96,748,643 (GRCm39)	S706N	probably benign	Het
Gbf1	T	C	19: 46,250,114 (GRCm39)	L357P	probably damaging	Het
Gpatch2l	A	G	12: 86,335,726 (GRCm39)	S476G	probably benign	Het
Ints8	A	G	4: 11,231,656 (GRCm39)	L443P	probably damaging	Het
Intu	T	A	3: 40,618,694 (GRCm39)	D233E	probably damaging	Het
Itprid2	A	G	2: 79,466,394 (GRCm39)	K75E	probably damaging	Het
Kctd1	T	A	18: 15,102,617 (GRCm39)	I259L	possibly damaging	Het
Lama5	A	G	2: 179,863,162 (GRCm39)	C108R	probably damaging	Het
Lgals3bp	T	C	11: 118,284,781 (GRCm39)	Y266C	probably damaging	Het
Lrig2	T	C	3: 104,401,993 (GRCm39)	I111V	probably benign	Het
Mtcl2	T	C	2: 156,872,539 (GRCm39)	N936S	probably damaging	Het
Myh8	G	T	11: 67,170,964 (GRCm39)	C125F	probably damaging	Het
Or2d3c	C	A	7: 106,526,129 (GRCm39)	C179F	probably damaging	Het
Or2h2	C	T	17: 37,396,623 (GRCm39)	V145M	probably benign	Het
Or51a10	T	C	7: 103,699,402 (GRCm39)	E53G	possibly damaging	Het
Or5ac21	T	C	16: 59,123,651 (GRCm39)	I46T	probably benign	Het
Or5p76	T	G	7: 108,122,731 (GRCm39)	Q142P	probably benign	Het
Or5w16	T	A	2: 87,576,894 (GRCm39)	M118K	probably damaging	Het
Or6c202	T	C	10: 128,995,974 (GRCm39)	Q293R	probably damaging	Het
Or8g4	A	T	9: 39,662,365 (GRCm39)	I228F	probably damaging	Het
Pate8	A	G	9: 36,493,114 (GRCm39)		probably benign	Het
Phc2	C	T	4: 128,645,400 (GRCm39)	P836S	probably damaging	Het
Pla2g7	T	C	17: 43,911,415 (GRCm39)	F189S	probably damaging	Het
Ptprk	A	G	10: 28,342,054 (GRCm39)	D487G	probably damaging	Het
Ptpro	T	A	6: 137,420,592 (GRCm39)	V1007D	probably damaging	Het
Rad54l2	A	G	9: 106,577,692 (GRCm39)		probably null	Het
Robo4	G	T	9: 37,314,739 (GRCm39)	V198L	probably benign	Het
Selenbp1	C	A	3: 94,844,701 (GRCm39)	H119Q	probably damaging	Het
Slc25a13	T	C	6: 6,152,525 (GRCm39)		probably null	Het
Slc35f5	A	G	1: 125,498,330 (GRCm39)	E176G	possibly damaging	Het
Sphkap	G	A	1: 83,255,236 (GRCm39)	R838*	probably null	Het
Tenm4	G	A	7: 96,552,096 (GRCm39)	V2512M	probably damaging	Het
Tmc8	A	G	11: 117,682,188 (GRCm39)		probably null	Het
Trim30d	C	T	7: 104,133,389 (GRCm39)	W21*	probably null	Het
Ube3c	G	A	5: 29,806,200 (GRCm39)	V281I	probably benign	Het
Usp17ld	T	C	7: 102,899,783 (GRCm39)	K383R	probably benign	Het
Vmn1r172	A	T	7: 23,359,529 (GRCm39)	Y138F	probably damaging	Het
Vmn1r180	T	C	7: 23,652,395 (GRCm39)	V186A	possibly damaging	Het
Vmn2r25	T	A	6: 123,828,754 (GRCm39)		probably null	Het
Vmn2r61	T	C	7: 41,949,935 (GRCm39)	F785S	probably damaging	Het
Zfp141	T	A	7: 42,125,470 (GRCm39)	Y334F	probably benign	Het
Zfp609	T	C	9: 65,638,282 (GRCm39)	I317V	probably benign	Het
Zfp879	A	G	11: 50,724,060 (GRCm39)	I259T	possibly 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
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
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'- GCAAAGGTGTAGTGCAGGTTGTCC -3'
(R):5'- GCCAGCTAGTGTAAACTGGAGAGTG -3'

Sequencing Primer
(F):5'- CAGGGATTGCAGGTCCTCAC -3'
(R):5'- GCACAGATGTGTTTACTAGCAACC -3'

Posted On

2014-05-14