Mutagenetix > Incidental Mutation

Incidental Mutation 'R4852:Hbs1l'

373637

Institutional Source

Beutler Lab

Gene Symbol

Hbs1l

Ensembl Gene

ENSMUSG00000019977

Gene Name

Hbs1-like (S. cerevisiae)

Synonyms

eRFS, 2810035F15Rik

MMRRC Submission

042464-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4852 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

21171876-21244788 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 21234287 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 556 (D556G)

Ref Sequence

ENSEMBL: ENSMUSP00000151689 (fasta)

Gene Model

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

AlphaFold

Q69ZS7

Predicted Effect

possibly damaging
Transcript: ENSMUST00000020153
AA Change: D553G

PolyPhen 2 Score 0.896 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000020153
Gene: ENSMUSG00000019977
AA Change: D553G

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

noncoding transcript
Transcript: ENSMUST00000218850

Predicted Effect

possibly damaging
Transcript: ENSMUST00000219915
AA Change: D556G

PolyPhen 2 Score 0.921 (Sensitivity: 0.81; Specificity: 0.94)

Coding Region Coverage

1x: 99.1%
3x: 98.3%
10x: 96.2%
20x: 92.0%

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: 85 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2700049A03Rik	G	T	12: 71,211,320 (GRCm39)	E685*	probably null	Het
2700049A03Rik	A	T	12: 71,211,321 (GRCm39)	E685V	possibly damaging	Het
4921524L21Rik	C	G	18: 6,623,487 (GRCm39)	L66V	possibly damaging	Het
4921524L21Rik	T	A	18: 6,623,488 (GRCm39)	L66Q	probably damaging	Het
Abca6	A	G	11: 110,135,029 (GRCm39)	V252A	probably benign	Het
Ablim2	C	T	5: 35,959,766 (GRCm39)	R73C	possibly damaging	Het
Acap1	C	T	11: 69,775,202 (GRCm39)	V354M	probably benign	Het
Accs	T	C	2: 93,674,605 (GRCm39)	D99G	probably damaging	Het
Adam9	T	C	8: 25,493,317 (GRCm39)	Y97C	probably damaging	Het
Akap6	T	C	12: 53,151,458 (GRCm39)	V1174A	probably damaging	Het
Aknad1	C	A	3: 108,659,056 (GRCm39)	D23E	probably damaging	Het
Ano2	T	C	6: 125,959,886 (GRCm39)	C666R	possibly damaging	Het
Atp4a	G	A	7: 30,423,693 (GRCm39)	A933T	probably benign	Het
Atxn2	T	C	5: 121,952,474 (GRCm39)	L224P	probably damaging	Het
Bin2	T	C	15: 100,543,169 (GRCm39)	E338G	probably damaging	Het
Bloc1s5	T	C	13: 38,818,960 (GRCm39)	K20E	probably damaging	Het
Bst1	A	T	5: 43,977,867 (GRCm39)	D72V	probably benign	Het
Cacna1i	T	C	15: 80,272,680 (GRCm39)	F1631L	probably damaging	Het
Capn13	GCA	G	17: 73,658,501 (GRCm39)		probably null	Het
Cfap43	A	G	19: 47,885,550 (GRCm39)	I355T	possibly damaging	Het
Chuk	A	T	19: 44,077,197 (GRCm39)	M383K	possibly damaging	Het
Cnga4	A	G	7: 105,054,937 (GRCm39)	I174V	probably benign	Het
Cpd	T	C	11: 76,675,976 (GRCm39)	K1226E	probably benign	Het
Crip2	T	C	12: 113,104,204 (GRCm39)	C5R	probably damaging	Het
Cyp3a11	T	A	5: 145,797,305 (GRCm39)	D358V	probably damaging	Het
Ebag9	T	C	15: 44,487,915 (GRCm39)	F21S	probably damaging	Het
Ercc1	A	T	7: 19,084,629 (GRCm39)	H70L	probably damaging	Het
Exoc3	G	A	13: 74,347,764 (GRCm39)	R69C	probably damaging	Het
Fgfr4	A	T	13: 55,308,969 (GRCm39)	R363S	possibly damaging	Het
Gas2l3	CACTCGTCATACT	CACT	10: 89,266,820 (GRCm39)		probably benign	Het
Gm7489	T	A	15: 53,749,434 (GRCm39)		probably benign	Het
Gphn	G	A	12: 78,673,984 (GRCm39)	V526M	probably damaging	Het
Gpr152	G	A	19: 4,193,790 (GRCm39)	V444I	probably benign	Het
Gss	T	C	2: 155,406,785 (GRCm39)	E330G	probably benign	Het
Helz2	T	C	2: 180,871,913 (GRCm39)	T2619A	probably damaging	Het
Hk3	A	G	13: 55,160,409 (GRCm39)	F304L	probably damaging	Het
Itgad	A	T	7: 127,797,702 (GRCm39)	N906Y	probably damaging	Het
Jakmip2	T	C	18: 43,710,465 (GRCm39)	E246G	probably damaging	Het
L3mbtl4	A	T	17: 68,866,748 (GRCm39)	H329L	probably damaging	Het
Mau2	A	G	8: 70,485,827 (GRCm39)		probably null	Het
Myo16	T	C	8: 10,423,474 (GRCm39)	L270P	probably damaging	Het
Naa25	T	C	5: 121,568,755 (GRCm39)	S606P	probably damaging	Het
Nags	T	A	11: 102,037,447 (GRCm39)	C179*	probably null	Het
Naip2	A	G	13: 100,298,044 (GRCm39)	M664T	probably benign	Het
Ndufv3	T	C	17: 31,747,043 (GRCm39)	I311T	probably benign	Het
Nipsnap1	G	T	11: 4,841,468 (GRCm39)	E258*	probably null	Het
Nudc	A	G	4: 133,261,660 (GRCm39)	L208P	probably damaging	Het
Or1e32	T	C	11: 73,705,074 (GRCm39)	Y278C	probably benign	Het
Or51a39	A	T	7: 102,362,750 (GRCm39)	V290E	probably damaging	Het
Oscp1	A	G	4: 125,970,652 (GRCm39)	D137G	possibly damaging	Het
Pcdhb5	C	T	18: 37,455,524 (GRCm39)	P635S	probably benign	Het
Pcdhgb2	T	A	18: 37,825,103 (GRCm39)	I698N	probably damaging	Het
Pde4b	A	G	4: 102,454,967 (GRCm39)	Y399C	probably damaging	Het
Pdf	A	T	8: 107,774,812 (GRCm39)	V140E	probably damaging	Het
Pglyrp2	T	C	17: 32,634,823 (GRCm39)	N513S	probably benign	Het
Ranbp2	T	A	10: 58,312,878 (GRCm39)	D1199E	possibly damaging	Het
Rell2	G	T	18: 38,089,621 (GRCm39)		probably null	Het
Rgl2	A	G	17: 34,156,147 (GRCm39)	H745R	probably benign	Het
Rnf121	A	G	7: 101,672,592 (GRCm39)	C264R	probably damaging	Het
Rnf181	A	G	6: 72,338,499 (GRCm39)	F3S	probably damaging	Het
Rsrc1	T	A	3: 67,262,935 (GRCm39)	D296E	probably damaging	Het
Rubcn	A	T	16: 32,663,678 (GRCm39)	D319E	probably damaging	Het
Scaf8	T	C	17: 3,228,494 (GRCm39)	S431P	unknown	Het
Septin11	T	A	5: 93,310,112 (GRCm39)	M305K	possibly damaging	Het
Serpinb12	A	G	1: 106,884,132 (GRCm39)	K293E	probably benign	Het
Sh3bp1	T	A	15: 78,788,538 (GRCm39)	H229Q	probably benign	Het
Slco4c1	G	A	1: 96,768,953 (GRCm39)	P303L	probably damaging	Het
Specc1	T	A	11: 62,102,510 (GRCm39)	V952E	probably damaging	Het
Spint2	G	A	7: 28,956,211 (GRCm39)	T158I	probably benign	Het
St8sia4	A	T	1: 95,588,623 (GRCm39)	W71R	probably damaging	Het
Tex48	C	T	4: 63,530,151 (GRCm39)	V23I	possibly damaging	Het
Tmc5	G	A	7: 118,244,562 (GRCm39)	G480D	probably benign	Het
Tmem8b	T	A	4: 43,689,713 (GRCm39)	M330K	probably damaging	Het
Tnrc18	C	T	5: 142,717,095 (GRCm39)	R2453Q	probably damaging	Het
Trank1	A	T	9: 111,220,963 (GRCm39)	N2567Y	possibly damaging	Het
Trps1	T	C	15: 50,709,705 (GRCm39)	D211G	probably damaging	Het
Ttn	T	C	2: 76,555,503 (GRCm39)	R30501G	probably damaging	Het
Ttn	T	A	2: 76,573,247 (GRCm39)	Y25882F	probably damaging	Het
Unc79	T	A	12: 103,139,725 (GRCm39)	V2495E	probably damaging	Het
Uqcr10	T	A	11: 4,652,198 (GRCm39)	H58L	possibly damaging	Het
Usp7	A	T	16: 8,574,708 (GRCm39)	C58*	probably null	Het
Vmn1r36	A	T	6: 66,693,872 (GRCm39)	M1K	probably null	Het
Wdr7	T	A	18: 63,911,020 (GRCm39)	M804K	probably damaging	Het
Zfp131	A	C	13: 120,250,394 (GRCm39)		probably null	Het
Zfp507	A	G	7: 35,493,480 (GRCm39)	V521A	probably benign	Het

Other mutations in Hbs1l

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01542:Hbs1l	APN	10	21,183,655 (GRCm39)	missense	probably benign	0.03
IGL02948:Hbs1l	APN	10	21,217,610 (GRCm39)	splice site	probably benign
R0375:Hbs1l	UTSW	10	21,218,440 (GRCm39)	missense	possibly damaging	0.76
R0465:Hbs1l	UTSW	10	21,227,940 (GRCm39)	missense	probably null	0.85
R0555:Hbs1l	UTSW	10	21,225,222 (GRCm39)	missense	probably benign	0.14
R0909:Hbs1l	UTSW	10	21,183,637 (GRCm39)	missense	probably benign	0.00
R1172:Hbs1l	UTSW	10	21,180,537 (GRCm39)	missense	probably damaging	1.00
R1594:Hbs1l	UTSW	10	21,227,922 (GRCm39)	missense	probably benign	0.00
R1612:Hbs1l	UTSW	10	21,234,734 (GRCm39)	missense	probably damaging	1.00
R1869:Hbs1l	UTSW	10	21,234,305 (GRCm39)	splice site	probably null
R2109:Hbs1l	UTSW	10	21,217,831 (GRCm39)	nonsense	probably null
R2369:Hbs1l	UTSW	10	21,183,644 (GRCm39)	missense	probably benign	0.01
R2404:Hbs1l	UTSW	10	21,171,946 (GRCm39)	start gained	probably benign
R4077:Hbs1l	UTSW	10	21,228,501 (GRCm39)	missense	probably damaging	1.00
R4079:Hbs1l	UTSW	10	21,228,501 (GRCm39)	missense	probably damaging	1.00
R4534:Hbs1l	UTSW	10	21,217,814 (GRCm39)	missense	possibly damaging	0.74
R4796:Hbs1l	UTSW	10	21,218,405 (GRCm39)	missense	probably damaging	1.00
R5069:Hbs1l	UTSW	10	21,230,546 (GRCm39)	missense	probably damaging	1.00
R5946:Hbs1l	UTSW	10	21,217,655 (GRCm39)	missense	probably benign
R6232:Hbs1l	UTSW	10	21,183,657 (GRCm39)	splice site	probably null
R6264:Hbs1l	UTSW	10	21,243,656 (GRCm39)	missense	possibly damaging	0.92
R6542:Hbs1l	UTSW	10	21,180,516 (GRCm39)	missense	probably benign	0.11
R6831:Hbs1l	UTSW	10	21,217,767 (GRCm39)	missense	probably benign	0.29
R7295:Hbs1l	UTSW	10	21,186,051 (GRCm39)	missense	probably benign	0.12
R7470:Hbs1l	UTSW	10	21,234,683 (GRCm39)	missense	possibly damaging	0.96
R7652:Hbs1l	UTSW	10	21,240,659 (GRCm39)	missense	probably benign	0.02
R7695:Hbs1l	UTSW	10	21,175,116 (GRCm39)	missense	possibly damaging	0.49
R7909:Hbs1l	UTSW	10	21,234,303 (GRCm39)	critical splice donor site	probably null
R8325:Hbs1l	UTSW	10	21,183,548 (GRCm39)	missense	probably benign	0.02
R8353:Hbs1l	UTSW	10	21,185,178 (GRCm39)	missense	probably benign
R8453:Hbs1l	UTSW	10	21,185,178 (GRCm39)	missense	probably benign
R8861:Hbs1l	UTSW	10	21,220,963 (GRCm39)	splice site	probably benign
R8878:Hbs1l	UTSW	10	21,234,711 (GRCm39)	missense	possibly damaging	0.47
R8880:Hbs1l	UTSW	10	21,185,868 (GRCm39)	missense	probably damaging	0.99
R8933:Hbs1l	UTSW	10	21,243,584 (GRCm39)	nonsense	probably null
R9462:Hbs1l	UTSW	10	21,218,304 (GRCm39)	missense	probably damaging	1.00
R9654:Hbs1l	UTSW	10	21,183,604 (GRCm39)	missense	possibly damaging	0.95
X0018:Hbs1l	UTSW	10	21,227,886 (GRCm39)	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- CAAGTCTGGAGAAACGCTGC -3'
(R):5'- TGTGCCAACATGAATTAACTCCAC -3'

Sequencing Primer
(F):5'- GAGAAACGCTGCTTCCTCCATG -3'
(R):5'- GCCAACATGAATTAACTCCACTTTAG -3'

Posted On

2016-03-01