Mutagenetix > Incidental Mutation

Incidental Mutation 'R5802:Hbb-bs'

448784

Institutional Source

Beutler Lab

Gene Symbol

Hbb-bs

Ensembl Gene

ENSMUSG00000052305

Gene Name

hemoglobin, beta adult s chain

Synonyms

beta s

MMRRC Submission

043391-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.354) question?

Stock #

R5802 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

103826534-103828096 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 103826672 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 146 (Y146C)

Ref Sequence

ENSEMBL: ENSMUSP00000023934 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000023934] [ENSMUST00000153218]

AlphaFold

A8DUK4

Predicted Effect

probably damaging
Transcript: ENSMUST00000023934
AA Change: Y146C

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000023934
Gene: ENSMUSG00000052305
AA Change: Y146C

Domain	Start	End	E-Value	Type
Pfam:Globin	8	112	1.3e-31	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000121145

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000131960

Predicted Effect

probably benign
Transcript: ENSMUST00000153218

SMART Domains

Protein: ENSMUSP00000115607
Gene: ENSMUSG00000052305

Domain	Start	End	E-Value	Type
Pfam:Globin	8	103	3.8e-29	PFAM

Meta Mutation Damage Score

0.8627

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.4%
20x: 95.7%

Validation Efficiency

97% (63/65)

MGI Phenotype

FUNCTION: This gene encodes a beta polypeptide chain found in adult hemoglobin, which consists of a tetramer of two alpha chains and two beta chains, and which functions in the transport of oxygen to various peripheral tissues. This gene is one of a cluster of beta-hemoglobin genes that are distally regulated by a locus control region, and which are organized along the chromosome in the order of their developmental expression. In mouse, two major strain-specific haplotypes of the beta-globin gene cluster are found - a "single" haplotype found in C57BL/-type strains, which includes two highly similar adult beta-globin genes, beta s and beta t, and a "diffuse" haplotype found in strains such as BALB/c and 129Sv, which includes two somewhat diverse adult beta-globin genes, beta-major and beta-minor. This gene represents the beta s adult gene found in the "single" haplotype. Primary chromosome 7 of the mouse reference genome assembly, which is derived from C57BL/6 strain mice, represents the "single" haplotype, while the "diffuse" haplotype is represented in the reference genome collection by the BALB/c strain alternate contig, NT_095534.1. [provided by RefSeq, May 2013]

Allele List at MGI

Other mutations in this stock

Total: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A830018L16Rik	A	T	1: 11,950,964 (GRCm38)	D383V	probably damaging	Het
AAdacl4fm3	T	A	4: 144,703,636 (GRCm38)	D261V	probably damaging	Het
Abca4	A	T	3: 122,054,232 (GRCm38)	L67F	probably damaging	Het
Abcc9	C	A	6: 142,656,676 (GRCm38)		probably null	Het
Atp2a3	T	C	11: 72,972,882 (GRCm38)	V175A	probably damaging	Het
B3galt4	T	A	17: 33,950,757 (GRCm38)	D169V	probably damaging	Het
Bsn	C	T	9: 108,113,009 (GRCm38)	R1848Q	possibly damaging	Het
Camkk2	T	C	5: 122,734,244 (GRCm38)	E90G	probably damaging	Het
Cdon	T	A	9: 35,454,420 (GRCm38)	I155N	probably damaging	Het
Cep70	A	G	9: 99,296,405 (GRCm38)	N519D	probably damaging	Het
Clgn	T	C	8: 83,425,614 (GRCm38)	S582P	probably damaging	Het
Cnga3	T	C	1: 37,260,925 (GRCm38)	F280S	probably damaging	Het
Dennd4c	C	T	4: 86,811,453 (GRCm38)	T764M	probably benign	Het
Dis3	A	T	14: 99,099,664 (GRCm38)	S4T	probably damaging	Het
Dlgap1	T	C	17: 70,766,091 (GRCm38)		probably null	Het
Dnah17	C	T	11: 118,036,446 (GRCm38)	V3839I	possibly damaging	Het
Dnajc1	A	G	2: 18,284,739 (GRCm38)	Y286H	probably benign	Het
Dynap	T	A	18: 70,241,002 (GRCm38)	D151V	unknown	Het
Ednrb	A	G	14: 103,821,714 (GRCm38)	F292S	probably damaging	Het
Eef1a1	A	G	9: 78,479,036 (GRCm38)	S396P	probably damaging	Het
Fancg	A	G	4: 43,006,582 (GRCm38)	F324S	probably benign	Het
Fbxw11	T	A	11: 32,711,790 (GRCm38)	S56T	probably benign	Het
Gm17535	G	C	9: 3,035,758 (GRCm38)	V209L	probably benign	Homo
Gm5592	C	T	7: 41,219,105 (GRCm38)		probably benign	Het
Gm7030	A	G	17: 36,111,287 (GRCm38)		probably benign	Het
Gpr137	C	T	19: 6,942,005 (GRCm38)	W51*	probably null	Het
Herc1	G	T	9: 66,462,878 (GRCm38)	C2982F	probably damaging	Het
Hnrnpa3	T	A	2: 75,665,056 (GRCm38)	N309K	unknown	Het
Hydin	A	T	8: 110,452,060 (GRCm38)	I1096F	possibly damaging	Het
Klf12	A	G	14: 100,022,894 (GRCm38)	V133A	probably benign	Het
Lats2	A	T	14: 57,694,418 (GRCm38)	Y848N	probably damaging	Het
Loxl3	A	G	6: 83,049,289 (GRCm38)	T453A	possibly damaging	Het
Ltn1	T	G	16: 87,415,681 (GRCm38)	H664P	probably benign	Het
Lypd6	C	T	2: 50,173,601 (GRCm38)	T40I	probably benign	Het
Nbeal1	A	T	1: 60,272,221 (GRCm38)	T1817S	probably benign	Het
Nub1	A	C	5: 24,702,441 (GRCm38)	Y350S	possibly damaging	Het
Pbp2	A	G	6: 135,309,876 (GRCm38)	Y158H	possibly damaging	Het
Ptpru	C	T	4: 131,788,377 (GRCm38)	E827K	possibly damaging	Het
Rap1a	A	G	3: 105,745,936 (GRCm38)	Y32H	probably damaging	Het
Raph1	T	C	1: 60,488,673 (GRCm38)	N1143S	possibly damaging	Het
Rbl1	T	C	2: 157,161,433 (GRCm38)	T859A	probably benign	Het
Rom1	A	G	19: 8,928,824 (GRCm38)	L117P	probably damaging	Het
Senp6	T	C	9: 80,118,644 (GRCm38)		probably benign	Het
Sirpb1c	T	C	3: 15,832,076 (GRCm38)	M379V	probably benign	Het
Slc6a4	C	T	11: 77,019,236 (GRCm38)	T439M	probably damaging	Het
Srsf12	G	T	4: 33,230,929 (GRCm38)	R141L	probably damaging	Het
Stk10	C	T	11: 32,596,748 (GRCm38)	P335L	probably benign	Het
Tcstv2c	G	A	13: 120,154,913 (GRCm38)	S96N	possibly damaging	Het
Tecpr1	A	T	5: 144,206,546 (GRCm38)	N670K	probably benign	Het
Tgds	T	C	14: 118,132,707 (GRCm38)	E8G	probably benign	Het
Tmem129	A	G	5: 33,657,716 (GRCm38)	S38P	probably damaging	Het
Trappc9	T	C	15: 72,685,339 (GRCm38)	E812G	probably damaging	Het
Trmt10b	T	A	4: 45,314,236 (GRCm38)		probably benign	Het
Wapl	A	G	14: 34,692,320 (GRCm38)	T380A	probably damaging	Het
Xylt1	A	T	7: 117,656,691 (GRCm38)	T829S	probably benign	Het
Zc3h6	C	T	2: 129,015,559 (GRCm38)	P666L	possibly damaging	Het
Zfp1010	T	C	2: 177,265,256 (GRCm38)	T150A	possibly damaging	Het
Zfp703	C	T	8: 26,979,205 (GRCm38)	P299L	probably damaging	Het

Other mutations in Hbb-bs

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02507:Hbb-bs	APN	7	103,827,884 (GRCm38)	splice site	probably benign
IGL03120:Hbb-bs	APN	7	103,827,778 (GRCm38)	splice site	probably benign
R0219:Hbb-bs	UTSW	7	103,826,669 (GRCm38)	missense	possibly damaging	0.78
R2243:Hbb-bs	UTSW	7	103,827,811 (GRCm38)	missense	possibly damaging	0.51
R4297:Hbb-bs	UTSW	7	103,826,744 (GRCm38)	missense	probably benign	0.42
R4921:Hbb-bs	UTSW	7	103,826,720 (GRCm38)	missense	probably damaging	0.98
R6908:Hbb-bs	UTSW	7	103,827,534 (GRCm38)	missense	probably benign	0.00
R8350:Hbb-bs	UTSW	7	103,826,744 (GRCm38)	missense	probably benign	0.42
R8450:Hbb-bs	UTSW	7	103,826,744 (GRCm38)	missense	probably benign	0.42
R8509:Hbb-bs	UTSW	7	103,826,712 (GRCm38)	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- TAGCATAAACCCTTCTATGACACAG -3'
(R):5'- TCAGCAGTTTAAGGTTGCAAAC -3'

Sequencing Primer
(F):5'- TTGCCAACAACTGACAGA -3'
(R):5'- GCAGTTTAAGGTTGCAAACAAATGTC -3'

Posted On

2016-12-15