Mutagenetix > Incidental Mutation

Incidental Mutation 'R5069:Hbs1l'

388556

Institutional Source

Beutler Lab

Gene Symbol

Hbs1l

Ensembl Gene

ENSMUSG00000019977

Gene Name

Hbs1-like (S. cerevisiae)

Synonyms

eRFS, 2810035F15Rik

MMRRC Submission

042659-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5069 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

21171876-21244788 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 21230546 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Threonine at position 496 (S496T)

Ref Sequence

ENSEMBL: ENSMUSP00000020153 (fasta)

Gene Model

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

AlphaFold

Q69ZS7

PDB Structure

Solution structure of HBS1-like domain in hypothetical protein BAB28515 [SOLUTION NMR]

Predicted Effect

probably damaging
Transcript: ENSMUST00000020153
AA Change: S496T

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000020153
Gene: ENSMUSG00000019977
AA Change: S496T

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: ENSMUST00000218714

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000218850

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000219345

Predicted Effect

probably damaging
Transcript: ENSMUST00000219915
AA Change: S499T

PolyPhen 2 Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.7%
20x: 93.5%

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: 77 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
3425401B19Rik	A	G	14: 32,383,749 (GRCm39)	S739P	possibly damaging	Het
AAdacl4fm3	T	A	4: 144,430,437 (GRCm39)	D184V	probably damaging	Het
Actn2	A	G	13: 12,303,408 (GRCm39)	I464T	possibly damaging	Het
Adcy7	T	C	8: 89,054,325 (GRCm39)	L1060P	probably damaging	Het
Aff3	A	G	1: 38,220,694 (GRCm39)		probably null	Het
Ankar	T	C	1: 72,719,369 (GRCm39)		probably null	Het
Ankrd27	A	T	7: 35,327,860 (GRCm39)	K793N	probably damaging	Het
Arhgef28	T	C	13: 98,211,714 (GRCm39)	T90A	probably damaging	Het
Armc9	A	T	1: 86,184,959 (GRCm39)	H670L	probably benign	Het
Arvcf	A	G	16: 18,217,736 (GRCm39)	Y412C	probably damaging	Het
Ass1	C	T	2: 31,400,185 (GRCm39)	T301M	probably damaging	Het
Baiap3	A	T	17: 25,468,082 (GRCm39)	C283S	probably damaging	Het
Birc6	C	T	17: 74,872,967 (GRCm39)	R409C	probably damaging	Het
Calcoco1	A	G	15: 102,619,527 (GRCm39)	L354P	probably damaging	Het
Cdh3	A	G	8: 107,263,458 (GRCm39)	N126S	probably benign	Het
Cfap54	A	C	10: 92,773,636 (GRCm39)	F135L	probably benign	Het
Dlg1	G	T	16: 31,503,113 (GRCm39)		probably null	Het
Dnah3	T	C	7: 119,632,013 (GRCm39)	H1314R	probably benign	Het
Dsp	A	C	13: 38,381,099 (GRCm39)	T2615P	possibly damaging	Het
Elapor2	T	A	5: 9,490,897 (GRCm39)	C636S	probably damaging	Het
Enpp2	T	C	15: 54,727,450 (GRCm39)	Y513C	probably damaging	Het
Ercc6	T	C	14: 32,292,020 (GRCm39)	V1128A	probably benign	Het
Firrm	T	C	1: 163,815,243 (GRCm39)	T93A	possibly damaging	Het
Gipc2	A	G	3: 151,799,885 (GRCm39)	F282L	probably benign	Het
Gm1043	T	G	5: 37,344,580 (GRCm39)	L231R	probably damaging	Het
Gpr153	T	A	4: 152,364,340 (GRCm39)	M132K	probably damaging	Het
Inpp5f	A	G	7: 128,278,451 (GRCm39)		probably null	Het
Kat6a	G	A	8: 23,393,149 (GRCm39)	C209Y	probably damaging	Het
Kcna2	T	A	3: 107,011,953 (GRCm39)	V178D	probably damaging	Het
Krt75	A	G	15: 101,474,673 (GRCm39)		probably null	Het
Letm2	G	A	8: 26,083,980 (GRCm39)	Q84*	probably null	Het
Mib1	A	G	18: 10,793,002 (GRCm39)	E646G	probably damaging	Het
Mmp14	T	A	14: 54,676,570 (GRCm39)	Y372N	probably damaging	Het
Muc6	A	G	7: 141,237,564 (GRCm39)	C218R	probably damaging	Het
Myof	A	T	19: 37,893,773 (GRCm39)	I1130N	possibly damaging	Het
Neil3	A	G	8: 54,054,076 (GRCm39)	S318P	possibly damaging	Het
Nhlh1	A	G	1: 171,881,467 (GRCm39)	V133A	probably benign	Het
Nup153	A	C	13: 46,863,268 (GRCm39)	S331A	probably benign	Het
Nup98	T	C	7: 101,794,862 (GRCm39)	T882A	probably benign	Het
Or11g2	T	A	14: 50,856,197 (GRCm39)	C173S	probably damaging	Het
Or11h4	C	A	14: 50,974,531 (GRCm39)	L29F	probably benign	Het
Or52ab4	A	T	7: 102,987,229 (GRCm39)		probably null	Het
Or9s23	T	A	1: 92,501,135 (GRCm39)	S81T	probably damaging	Het
Otx1	C	A	11: 21,947,037 (GRCm39)	A91S	probably damaging	Het
Pald1	A	T	10: 61,177,025 (GRCm39)	M675K	possibly damaging	Het
Pex5	A	G	6: 124,390,555 (GRCm39)	S97P	probably benign	Het
Pitpnm1	C	T	19: 4,161,140 (GRCm39)	A897V	probably benign	Het
Plxnd1	A	T	6: 115,942,862 (GRCm39)	V1274E	probably damaging	Het
Polr2a	T	C	11: 69,627,561 (GRCm39)		probably null	Het
Ppfia1	G	A	7: 144,068,210 (GRCm39)	Q446*	probably null	Het
Psma2	G	A	13: 14,790,613 (GRCm39)	V20I	probably benign	Het
Pwwp4a	T	C	X: 72,171,577 (GRCm39)	I323T	probably damaging	Het
Rhbdl2	T	A	4: 123,711,710 (GRCm39)	L149*	probably null	Het
Rnf17	T	C	14: 56,743,385 (GRCm39)	V1317A	probably damaging	Het
Rtel1	G	A	2: 180,997,285 (GRCm39)	V1042M	probably benign	Het
Sidt2	A	T	9: 45,850,759 (GRCm39)		probably null	Het
Slc11a1	G	A	1: 74,424,343 (GRCm39)	A434T	probably damaging	Het
Slc28a2b	A	T	2: 122,324,854 (GRCm39)	N142I	possibly damaging	Het
Slc4a10	G	A	2: 62,097,915 (GRCm39)	R508H	probably benign	Het
Slc5a8	A	T	10: 88,722,460 (GRCm39)	I98F	possibly damaging	Het
Slf2	T	A	19: 44,923,692 (GRCm39)	S169T	possibly damaging	Het
Snx33	A	T	9: 56,833,475 (GRCm39)	I198N	probably damaging	Het
Spock3	A	G	8: 63,808,299 (GRCm39)	T396A	probably benign	Het
Sva	A	T	6: 42,015,351 (GRCm39)		probably benign	Het
Syt7	A	G	19: 10,416,601 (GRCm39)	N261S	probably benign	Het
Taar7b	T	G	10: 23,876,359 (GRCm39)	S175A	probably benign	Het
Thoc2	C	T	X: 40,895,570 (GRCm39)	E1491K	probably damaging	Het
Tlr1	T	C	5: 65,083,743 (GRCm39)	Y278C	probably benign	Het
Tph2	T	A	10: 114,987,079 (GRCm39)	Y237F	probably benign	Het
Trim35	C	T	14: 66,546,421 (GRCm39)		probably benign	Het
Trpm4	T	G	7: 44,959,893 (GRCm39)	Y667S	probably damaging	Het
Ttc27	T	A	17: 75,106,337 (GRCm39)	H541Q	probably damaging	Het
Ube4a	T	C	9: 44,851,387 (GRCm39)	H709R	probably damaging	Het
Vwa7	G	A	17: 35,243,166 (GRCm39)	V615I	probably benign	Het
Wars2	A	G	3: 99,094,849 (GRCm39)	H48R	probably damaging	Het
Xlr4c	T	A	X: 72,282,290 (GRCm39)	K121M	probably damaging	Het
Zfc3h1	T	A	10: 115,254,688 (GRCm39)	C1427*	probably null	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
R4852:Hbs1l	UTSW	10	21,234,287 (GRCm39)	missense	possibly damaging	0.92
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'- CGGAATGAGCCTTCAGTTTCTG -3'
(R):5'- GGAGTTGTAACTAGACTACTGAAGC -3'

Sequencing Primer
(F):5'- GGAATGAGCCTTCAGTTTCTGTAATC -3'
(R):5'- CAGAAATCTGCTGTCTCAAGGC -3'

Posted On

2016-06-06