Mutagenetix > Incidental Mutation

Incidental Mutation 'R8453:Hbs1l'

654870

Institutional Source

Beutler Lab

Gene Symbol

Hbs1l

Ensembl Gene

ENSMUSG00000019977

Gene Name

Hbs1-like (S. cerevisiae)

Synonyms

2810035F15Rik, eRFS

MMRRC Submission

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8453 (G1)

Quality Score

116.008

Status

Not validated

Chromosome

Chromosomal Location

21295979-21368898 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 21309279 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Leucine at position 200 (H200L)

Ref Sequence

ENSEMBL: ENSMUSP00000090344 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000020153] [ENSMUST00000061324] [ENSMUST00000092674] [ENSMUST00000218032] [ENSMUST00000218714] [ENSMUST00000219915]

AlphaFold

Q69ZS7

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: ENSMUST00000061324

SMART Domains

Protein: ENSMUSP00000135902
Gene: ENSMUSG00000019977

Domain	Start	End	E-Value	Type
Pfam:HBS1_N	10	125	1.5e-22	PFAM
low complexity region	311	331	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000092674
AA Change: H200L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000090344
Gene: ENSMUSG00000019977
AA Change: H200L

Domain	Start	End	E-Value	Type
Pfam:HBS1_N	13	127	2e-25	PFAM
low complexity region	311	331	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000218032

Predicted Effect

probably benign
Transcript: ENSMUST00000218714

Predicted Effect

probably benign
Transcript: ENSMUST00000219915

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.2%

Validation Efficiency

100% (68/68)

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: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
5830473C10Rik	A	T	5: 90,566,501	R123S	possibly damaging	Het
8030462N17Rik	T	C	18: 77,673,908	E236G	probably damaging	Het
9630041A04Rik	G	T	9: 101,938,685	C23F	possibly damaging	Het
Adam29	T	C	8: 55,873,161	H86R	possibly damaging	Het
Alas1	C	T	9: 106,236,522	R508Q	possibly damaging	Het
Bmp3	G	A	5: 98,855,423		probably null	Het
Bud13	A	G	9: 46,288,201	T287A	probably benign	Het
C3	T	C	17: 57,212,643	E1203G	probably benign	Het
Carmil2	A	C	8: 105,690,211	Q476P	probably damaging	Het
Ccdc187	T	A	2: 26,276,446	T707S	probably damaging	Het
Cfap43	A	T	19: 47,746,647	V1435E	probably damaging	Het
Chrm3	A	T	13: 9,877,231	*590K	probably null	Het
Commd1	C	T	11: 22,978,503		probably benign	Het
Creb3l1	A	T	2: 91,990,929	Y314*	probably null	Het
Ctc1	T	A	11: 69,022,449	S90R	probably benign	Het
Dixdc1	T	C	9: 50,684,886	Q413R	probably benign	Het
Dlg5	T	C	14: 24,158,145	T998A	probably benign	Het
Fam89b	A	G	19: 5,728,875	S99P	possibly damaging	Het
Fbxo30	A	G	10: 11,290,735	I400M	probably benign	Het
Gad1	A	T	2: 70,600,713	M567L	probably benign	Het
Gemin5	T	C	11: 58,125,239	S1314G	probably benign	Het
Gm2035	C	T	12: 87,919,553	S102N	probably benign	Het
Gm9195	T	G	14: 72,440,761	I2323L	probably benign	Het
Gria1	T	A	11: 57,243,051	F585L	probably damaging	Het
Igsf5	A	G	16: 96,421,796	Q360R	probably benign	Het
Il31ra	A	T	13: 112,524,183	V624E	probably damaging	Het
Iqsec3	T	C	6: 121,387,820	R837G	probably damaging	Het
Lpl	A	G	8: 68,895,781	I221V	probably damaging	Het
Mcf2l	T	C	8: 12,984,956		probably null	Het
Mink1	T	A	11: 70,610,328	D887E	possibly damaging	Het
Mmp10	T	G	9: 7,508,202	F443C	probably damaging	Het
Mmrn1	T	A	6: 60,988,377	Y1131N	probably damaging	Het
Mrc2	T	A	11: 105,332,311	V460E	probably damaging	Het
Nicn1	T	A	9: 108,293,373	F57Y	probably damaging	Het
Nlrp4b	A	G	7: 10,715,601	Y577C	probably damaging	Het
Nrap	T	C	19: 56,323,920	T1535A	probably damaging	Het
Opa1	G	A	16: 29,620,868	R755H	probably damaging	Het
P4htm	C	T	9: 108,580,367		probably benign	Het
Phldb2	A	G	16: 45,825,022	S354P	probably benign	Het
Phykpl	T	C	11: 51,598,294	S316P	probably damaging	Het
Pnpla1	T	A	17: 28,858,899	D11E	probably benign	Het
Pold2	A	G	11: 5,875,104	F98L	probably damaging	Het
Prph	G	A	15: 99,056,776	R241Q	probably benign	Het
Rcl1	T	C	19: 29,115,759	I58T	possibly damaging	Het
Rps6ka2	A	G	17: 7,246,752	N117D	probably benign	Het
Sars	G	A	3: 108,428,713	S331L	probably benign	Het
Scfd1	A	C	12: 51,412,591	K312Q	possibly damaging	Het
Senp5	A	G	16: 31,989,348	C363R	probably benign	Het
Senp7	A	G	16: 56,188,328	I1024V	probably damaging	Het
Sh2b1	TGGGGACCAGCTCAGCCACGGGGACCAGCTC	TGGGGACCAGCTCAGCCACGGGGACCAGCTCAGCCACGGGGACCAGCTC	7: 126,467,570		probably benign	Het
Sptbn4	A	G	7: 27,404,238	L1191P	probably damaging	Het
Ssfa2	T	C	2: 79,644,785	S363P	probably benign	Het
Stk40	A	G	4: 126,128,973	E180G	probably damaging	Het
Stxbp5	A	T	10: 9,809,048	V536E	probably benign	Het
Suco	A	T	1: 161,823,017		probably benign	Het
Tex15	G	T	8: 33,576,871	E2110*	probably null	Het
Thbs4	G	A	13: 92,790,817	P55S	probably benign	Het
Tmem115	T	C	9: 107,534,798	V107A	probably benign	Het
Tnfaip6	A	C	2: 52,055,867	I242L	probably benign	Het
Trabd	G	T	15: 89,085,413	A270S	possibly damaging	Het
Trim30d	T	A	7: 104,487,740	I86F	probably damaging	Het
Trpc7	A	G	13: 56,822,559	V404A	probably benign	Het
Vmn1r61	A	G	7: 5,610,887	Y143H	probably benign	Het
Vmn2r18	T	A	5: 151,561,908	D707V	probably damaging	Het
Vnn3	G	A	10: 23,869,545	R464H	probably benign	Het
Wdr27	T	C	17: 14,892,489	T652A	probably benign	Het
Wdr78	A	G	4: 103,059,916	I577T	possibly damaging	Het
Yeats2	C	T	16: 20,222,887	R1176*	probably null	Het

Other mutations in Hbs1l

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01542:Hbs1l	APN	10	21307756	missense	probably benign	0.03
IGL02948:Hbs1l	APN	10	21341711	splice site	probably benign
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
R8861:Hbs1l	UTSW	10	21345064	splice site	probably benign
R8878:Hbs1l	UTSW	10	21358812	missense	possibly damaging	0.47
R8880:Hbs1l	UTSW	10	21309969	missense	probably damaging	0.99
R8933:Hbs1l	UTSW	10	21367685	nonsense	probably null
R9462:Hbs1l	UTSW	10	21342405	missense	probably damaging	1.00
R9654:Hbs1l	UTSW	10	21307705	missense	possibly damaging	0.95
X0018:Hbs1l	UTSW	10	21351987	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- CCTGCAAATGTCAACTCATGC -3'
(R):5'- GCACCTAGGCTCTTAAGAAGC -3'

Sequencing Primer
(F):5'- GCATCTGAACATTGATGGCTC -3'
(R):5'- AGGCTCTTAAGAAGCTCACTCTG -3'

Posted On

2020-10-20