Mutagenetix > Incidental Mutation

Incidental Mutation 'R7470:Hbs1l'

579129

Institutional Source

Beutler Lab

Gene Symbol

Hbs1l

Ensembl Gene

ENSMUSG00000019977

Gene Name

Hbs1-like (S. cerevisiae)

Synonyms

eRFS, 2810035F15Rik

MMRRC Submission

045544-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7470 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

21171876-21244788 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 21234683 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Leucine at position 579 (F579L)

Ref Sequence

ENSEMBL: ENSMUSP00000151689 (fasta)

Gene Model

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

AlphaFold

Q69ZS7

Predicted Effect

probably damaging
Transcript: ENSMUST00000020153
AA Change: F576L

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

SMART Domains

Protein: ENSMUSP00000020153
Gene: ENSMUSG00000019977
AA Change: F576L

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

possibly damaging
Transcript: ENSMUST00000219915
AA Change: F579L

PolyPhen 2 Score 0.956 (Sensitivity: 0.79; Specificity: 0.95)

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 98.9%

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: 84 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930563M21Rik	A	T	9: 55,898,622 (GRCm39)	V238E	possibly damaging	Het
Actn3	G	A	19: 4,917,842 (GRCm39)	S375L	possibly damaging	Het
Adgrg6	T	C	10: 14,319,810 (GRCm39)	T476A	probably benign	Het
Afm	T	A	5: 90,679,486 (GRCm39)	S327T	probably damaging	Het
Apol7e	T	A	15: 77,602,143 (GRCm39)	M247K	probably benign	Het
Aqp12	T	A	1: 92,936,385 (GRCm39)	L237Q	probably damaging	Het
Arhgef12	A	T	9: 42,951,848 (GRCm39)	S63T	probably damaging	Het
Axdnd1	T	A	1: 156,204,086 (GRCm39)	E393V		Het
Cacna1g	T	A	11: 94,352,765 (GRCm39)	D365V	possibly damaging	Het
Ccdc3	T	A	2: 5,143,115 (GRCm39)	V124E	possibly damaging	Het
Ccr7	C	T	11: 99,036,383 (GRCm39)	V180M	possibly damaging	Het
Cd47	T	A	16: 49,704,585 (GRCm39)	I119K		Het
Cenpe	A	T	3: 134,947,916 (GRCm39)	L1158F	probably damaging	Het
Cfi	A	G	3: 129,648,736 (GRCm39)	R207G	probably benign	Het
Cyp2j6	T	C	4: 96,423,708 (GRCm39)	Y220C	probably benign	Het
Ddhd2	A	G	8: 26,225,087 (GRCm39)	F577L	probably benign	Het
Dhx40	T	C	11: 86,667,528 (GRCm39)	E537G	probably damaging	Het
Disp3	A	T	4: 148,345,527 (GRCm39)	C438S	possibly damaging	Het
Dock3	A	G	9: 106,882,644 (GRCm39)	S380P	probably damaging	Het
Ehmt2	A	G	17: 35,118,372 (GRCm39)	E106G	possibly damaging	Het
Fmnl2	A	T	2: 52,932,377 (GRCm39)	I119F	probably damaging	Het
Gm11554	A	C	11: 99,695,190 (GRCm39)	S8A	unknown	Het
Grm7	A	G	6: 111,478,476 (GRCm39)	I54V		Het
Hgf	C	A	5: 16,823,854 (GRCm39)	Q684K	probably benign	Het
Igsf3	T	C	3: 101,358,391 (GRCm39)	Y741H	possibly damaging	Het
Il17rb	C	A	14: 29,719,990 (GRCm39)	G304W	probably damaging	Het
Ino80c	C	T	18: 24,241,895 (GRCm39)	W163*	probably null	Het
Kcnt1	A	C	2: 25,799,845 (GRCm39)	D997A	probably damaging	Het
Klf7	C	T	1: 64,081,472 (GRCm39)		probably null	Het
Lingo1	T	C	9: 56,527,908 (GRCm39)	Y233C	probably damaging	Het
Lmo7	C	A	14: 102,138,040 (GRCm39)	T914K	possibly damaging	Het
Mark1	G	T	1: 184,660,241 (GRCm39)	Y138*	probably null	Het
Mcm3ap	C	A	10: 76,344,231 (GRCm39)	T1791K	probably damaging	Het
Mcts2	T	C	2: 152,529,582 (GRCm39)	I131T	probably benign	Het
Mipep	A	G	14: 61,040,344 (GRCm39)	D288G	probably benign	Het
Ms4a8a	T	A	19: 11,053,714 (GRCm39)	N131Y	possibly damaging	Het
Nalcn	T	C	14: 123,809,456 (GRCm39)	E232G	probably benign	Het
Nat10	C	T	2: 103,565,226 (GRCm39)	A452T	probably benign	Het
Nfatc2	G	A	2: 168,365,227 (GRCm39)	Q596*	probably null	Het
Nudt13	G	T	14: 20,359,791 (GRCm39)	G173W	probably damaging	Het
Or10n1	C	A	9: 39,524,998 (GRCm39)	T45K	probably benign	Het
Or1e16	T	A	11: 73,286,714 (GRCm39)	I45F	probably damaging	Het
Or5l14	A	T	2: 87,792,793 (GRCm39)	C148S	possibly damaging	Het
Or8b4	T	A	9: 37,830,592 (GRCm39)	I213N	probably damaging	Het
Otud4	T	C	8: 80,399,989 (GRCm39)	V901A	probably benign	Het
Pah	G	A	10: 87,399,286 (GRCm39)	R155Q	probably damaging	Het
Pkd1l3	A	G	8: 110,365,008 (GRCm39)	H1130R	probably benign	Het
Pnliprp1	A	G	19: 58,720,457 (GRCm39)	N111S	possibly damaging	Het
Ppp1r21	T	C	17: 88,869,649 (GRCm39)	Y401H	probably damaging	Het
Prr14	A	G	7: 127,074,997 (GRCm39)	K466R	probably null	Het
Ralgapa2	A	G	2: 146,266,587 (GRCm39)	L663P	probably damaging	Het
Reg3d	A	T	6: 78,353,071 (GRCm39)	C171S	possibly damaging	Het
Reln	G	T	5: 22,147,739 (GRCm39)	L2404I	probably damaging	Het
Rnasel	A	C	1: 153,629,777 (GRCm39)	I98L	probably benign	Het
Rnf216	T	C	5: 142,978,480 (GRCm39)	D886G	possibly damaging	Het
Rp1l1	A	G	14: 64,266,015 (GRCm39)	R534G	probably benign	Het
Selenon	A	C	4: 134,267,061 (GRCm39)	S514A	probably benign	Het
Sema3d	T	A	5: 12,558,152 (GRCm39)	I228N	probably damaging	Het
Serpinb9g	T	A	13: 33,670,617 (GRCm39)	I35N	probably damaging	Het
Siglec1	A	C	2: 130,917,744 (GRCm39)	H1044Q	probably benign	Het
Skint5	T	A	4: 113,614,128 (GRCm39)	I693F	unknown	Het
Skint5	G	T	4: 113,743,000 (GRCm39)	L370M	unknown	Het
Slc12a1	G	A	2: 125,059,815 (GRCm39)	W905*	probably null	Het
Slc26a9	G	C	1: 131,691,781 (GRCm39)	V675L	probably benign	Het
Slc5a7	A	T	17: 54,583,990 (GRCm39)	Y433*	probably null	Het
Slc7a4	A	G	16: 17,392,977 (GRCm39)	I274T	probably benign	Het
Slmap	A	G	14: 26,148,575 (GRCm39)	V612A	probably benign	Het
Spen	T	C	4: 141,206,605 (GRCm39)	D674G	unknown	Het
Ssh1	T	C	5: 114,080,488 (GRCm39)	T981A	possibly damaging	Het
Sycp2l	T	C	13: 41,316,580 (GRCm39)	S180P	probably benign	Het
Tdrd7	C	A	4: 45,990,144 (GRCm39)	S181R	probably benign	Het
Thada	T	C	17: 84,533,469 (GRCm39)	N1661D	probably benign	Het
Tsga13	C	A	6: 30,876,981 (GRCm39)	D179Y	possibly damaging	Het
Ttf2	T	G	3: 100,870,478 (GRCm39)	Q198H	possibly damaging	Het
Ugt2b37	T	G	5: 87,401,971 (GRCm39)	Y220S	probably benign	Het
Unc79	C	T	12: 103,061,235 (GRCm39)	T1145I	probably damaging	Het
Unc80	T	A	1: 66,661,621 (GRCm39)	M1682K	probably benign	Het
Vcp	A	G	4: 42,982,891 (GRCm39)	S652P	probably damaging	Het
Vmn2r-ps158	T	A	7: 42,697,310 (GRCm39)	M789K	probably damaging	Het
Wrnip1	T	A	13: 33,000,310 (GRCm39)	L439*	probably null	Het
Zfhx2	A	G	14: 55,304,207 (GRCm39)	I1259T	possibly damaging	Het
Zfp369	A	T	13: 65,439,960 (GRCm39)	T215S	probably benign	Het
Zfp64	A	T	2: 168,767,731 (GRCm39)	V627E	probably damaging	Het
Zfp873	T	C	10: 81,895,773 (GRCm39)	I168T	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
R4852:Hbs1l	UTSW	10	21,234,287 (GRCm39)	missense	possibly damaging	0.92
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
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'- GGGCAGAGGGTTCTTAAGAG -3'
(R):5'- ATACATGAGGACAAGCACCC -3'

Sequencing Primer
(F):5'- CCACATTGGTTCACTCATC -3'
(R):5'- TGAGGACAAGCACCCACACAC -3'

Posted On

2019-10-07