Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL02948:Hbs1l'

364864

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Hbs1l

Ensembl Gene

ENSMUSG00000019977

Gene Name

Hbs1-like (S. cerevisiae)

Synonyms

2810035F15Rik, eRFS

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL02948

Quality Score

Status

Chromosome

Chromosomal Location

21295979-21368898 bp(+) (GRCm38)

Type of Mutation

splice site

DNA Base Change (assembly)

C to T at 21341711 bp

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000151689 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000020153] [ENSMUST00000218032] [ENSMUST00000218714] [ENSMUST00000219915]

Predicted Effect

probably benign
Transcript: ENSMUST00000020153

SMART Domains

Protein: ENSMUSP00000020153
Gene: ENSMUSG00000019977

Domain	Start	End	E-Value	Type
Pfam:HBS1_N	33	125	1e-22	PFAM
low complexity region	142	155	N/A	INTRINSIC
Pfam:GTP_EFTU	256	521	1.7e-48	PFAM
Pfam:GTP_EFTU_D3	572	681	9.2e-34	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000218032

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000218108

Predicted Effect

probably benign
Transcript: ENSMUST00000218714

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000218785

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000219345

Predicted Effect

probably benign
Transcript: ENSMUST00000219915

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the GTP-binding elongation factor family. It is expressed in multiple tissues with the highest expression in heart and skeletal muscle. The intergenic region of this gene and the MYB gene has been identified to be a quantitative trait locus (QTL) controlling fetal hemoglobin level, and this region influnces erythrocyte, platelet, and monocyte counts as well as erythrocyte volume and hemoglobin content. DNA polymorphisms at this region associate with fetal hemoglobin levels and pain crises in sickle cell disease. A single nucleotide polymorphism in exon 1 of this gene is significantly associated with severity in beta-thalassemia/Hemoglobin E. Multiple alternatively spliced transcript variants encoding different protein isoforms have been found for this gene. [provided by RefSeq, May 2009]

Allele List at MGI

Other mutations in this stock

Total: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aass	A	T	6: 23,094,319		probably benign	Het
Ano3	A	T	2: 110,697,018		probably benign	Het
Arpp21	T	C	9: 112,176,200	Y193C	probably damaging	Het
Atm	G	A	9: 53,453,440		probably benign	Het
Ceacam13	C	T	7: 18,011,063		probably benign	Het
Cenpi	T	A	X: 134,349,268	C599S	possibly damaging	Het
Clec7a	A	C	6: 129,465,478	D195E	possibly damaging	Het
Cnksr1	T	C	4: 134,235,106		probably null	Het
Cntn1	A	G	15: 92,246,010	T285A	probably benign	Het
Dusp4	G	T	8: 34,818,572	G329V	probably damaging	Het
Emb	C	A	13: 117,273,066		probably benign	Het
Esyt1	A	T	10: 128,519,171	S496T	probably damaging	Het
Evpl	T	C	11: 116,221,822	T1681A	probably damaging	Het
Fam131b	A	C	6: 42,320,992		probably benign	Het
Fam162b	T	C	10: 51,587,296	M92V	probably damaging	Het
Fbxw2	T	C	2: 34,805,711	*455W	probably null	Het
Gm12886	A	G	4: 121,423,037	L14P	unknown	Het
Gpc4	A	T	X: 52,074,301	V235E	probably damaging	Het
Gss	A	G	2: 155,577,621	L170P	probably damaging	Het
Hhatl	T	C	9: 121,789,791	M92V	probably benign	Het
Hhla1	A	T	15: 65,942,693	L194H	probably damaging	Het
Hivep2	C	A	10: 14,129,013	R452S	probably benign	Het
Homer2	C	A	7: 81,649,645	W24L	probably damaging	Het
Lhcgr	A	T	17: 88,742,622	L492H	probably damaging	Het
Lrba	C	A	3: 86,310,384		probably null	Het
Lrp2	G	T	2: 69,487,837	P2090Q	probably damaging	Het
Lyl1	C	T	8: 84,702,671	P3L	possibly damaging	Het
Madd	T	A	2: 91,142,827	M1497L	probably benign	Het
Naprt	C	T	15: 75,892,357	R336Q	probably damaging	Het
Nars	A	G	18: 64,505,195	C266R	possibly damaging	Het
Olfr1420	T	A	19: 11,896,781	Y253*	probably null	Het
Olfr175-ps1	T	A	16: 58,824,088	Q207L	probably benign	Het
Pard3	A	T	8: 127,306,494	T190S	probably benign	Het
Pstpip2	A	G	18: 77,854,807	N86S	probably benign	Het
Ptgfrn	T	C	3: 101,072,819	T402A	probably benign	Het
Rnf130	T	C	11: 50,052,771		probably benign	Het
Ropn1l	T	C	15: 31,451,179	D53G	possibly damaging	Het
Rps6ka2	G	A	17: 7,254,450		probably null	Het
Rtn2	T	C	7: 19,293,111	S17P	probably damaging	Het
Shank2	T	C	7: 144,409,636	V327A	probably benign	Het
Slc22a16	T	G	10: 40,573,962	Y131*	probably null	Het
Slc28a2	T	A	2: 122,457,977	M583K	possibly damaging	Het
Slco1a6	G	T	6: 142,133,235		probably null	Het
Slfn8	T	A	11: 83,003,252	I854F	probably damaging	Het
Strip1	T	C	3: 107,613,266	R823G	probably benign	Het
Stxbp2	A	T	8: 3,641,971	I538F	probably benign	Het
Tcl1b5	C	T	12: 105,179,014	T79M	probably benign	Het
Tmem104	G	T	11: 115,197,296	A36S	probably damaging	Het
Trim55	T	A	3: 19,670,952	L211Q	probably damaging	Het
Trim80	T	C	11: 115,441,593	W204R	possibly damaging	Het
Ttbk1	G	A	17: 46,446,330	T1126I	probably benign	Het
Ubqln2	C	T	X: 153,499,696	Q415*	probably null	Het
Unc13a	C	T	8: 71,650,549	R931H	possibly damaging	Het
Utp4	T	A	8: 106,894,641	S17T	probably benign	Het

Other mutations in Hbs1l

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01542:Hbs1l	APN	10	21307756	missense	probably benign	0.03
R0375:Hbs1l	UTSW	10	21342541	missense	possibly damaging	0.76
R0465:Hbs1l	UTSW	10	21352041	missense	probably null	0.85
R0555:Hbs1l	UTSW	10	21349323	missense	probably benign	0.14
R0909:Hbs1l	UTSW	10	21307738	missense	probably benign	0.00
R1172:Hbs1l	UTSW	10	21304638	missense	probably damaging	1.00
R1594:Hbs1l	UTSW	10	21352023	missense	probably benign	0.00
R1612:Hbs1l	UTSW	10	21358835	missense	probably damaging	1.00
R1869:Hbs1l	UTSW	10	21358406	splice site	probably null
R2109:Hbs1l	UTSW	10	21341932	nonsense	probably null
R2369:Hbs1l	UTSW	10	21307745	missense	probably benign	0.01
R2404:Hbs1l	UTSW	10	21296047	start gained	probably benign
R4077:Hbs1l	UTSW	10	21352602	missense	probably damaging	1.00
R4079:Hbs1l	UTSW	10	21352602	missense	probably damaging	1.00
R4534:Hbs1l	UTSW	10	21341915	missense	possibly damaging	0.74
R4796:Hbs1l	UTSW	10	21342506	missense	probably damaging	1.00
R4852:Hbs1l	UTSW	10	21358388	missense	possibly damaging	0.92
R5069:Hbs1l	UTSW	10	21354647	missense	probably damaging	1.00
R5946:Hbs1l	UTSW	10	21341756	missense	probably benign
R6232:Hbs1l	UTSW	10	21307758	splice site	probably null
R6264:Hbs1l	UTSW	10	21367757	missense	possibly damaging	0.92
R6542:Hbs1l	UTSW	10	21304617	missense	probably benign	0.11
R6831:Hbs1l	UTSW	10	21341868	missense	probably benign	0.29
R7295:Hbs1l	UTSW	10	21310152	missense	probably benign	0.12
R7470:Hbs1l	UTSW	10	21358784	missense	possibly damaging	0.96
R7652:Hbs1l	UTSW	10	21364760	missense	probably benign	0.02
R7695:Hbs1l	UTSW	10	21299217	missense	possibly damaging	0.49
R7909:Hbs1l	UTSW	10	21358404	critical splice donor site	probably null
R8325:Hbs1l	UTSW	10	21307649	missense	probably benign	0.02
R8353:Hbs1l	UTSW	10	21309279	missense	probably benign
R8453:Hbs1l	UTSW	10	21309279	missense	probably benign
X0018:Hbs1l	UTSW	10	21351987	missense	probably damaging	0.99

Posted On

2015-12-18