Mutagenetix > Incidental Mutation

Incidental Mutation 'R2109:Hbs1l'

232385

Institutional Source

Beutler Lab

Gene Symbol

Hbs1l

Ensembl Gene

ENSMUSG00000019977

Gene Name

Hbs1-like (S. cerevisiae)

Synonyms

2810035F15Rik, eRFS

MMRRC Submission

040113-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R2109 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

21295979-21368898 bp(+) (GRCm38)

Type of Mutation

nonsense

DNA Base Change (assembly)

T to A at 21341932 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Stop codon at position 249 (L249*)

Ref Sequence

ENSEMBL: ENSMUSP00000151689 (fasta)

Gene Model

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

AlphaFold

Q69ZS7

Predicted Effect

probably null
Transcript: ENSMUST00000020153
AA Change: L246*

SMART Domains

Protein: ENSMUSP00000020153
Gene: ENSMUSG00000019977
AA Change: L246*

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 null
Transcript: ENSMUST00000219915
AA Change: L249*

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.4%
20x: 95.4%

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: 87 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1190002N15Rik	A	T	9: 94,524,445	I303N	probably damaging	Het
1700001C02Rik	G	A	5: 30,480,507	G66E	probably damaging	Het
2410002F23Rik	G	T	7: 44,251,011	R113S	probably benign	Het
Ackr2	A	T	9: 121,908,960	I134F	probably damaging	Het
Actr3b	T	A	5: 25,831,711	I174N	possibly damaging	Het
Akap9	T	A	5: 4,044,847	S2214T	possibly damaging	Het
Arhgef12	C	A	9: 42,979,472	R986L	possibly damaging	Het
BC049762	T	A	11: 51,254,437	I108F	possibly damaging	Het
Brap	G	T	5: 121,663,359	S59I	possibly damaging	Het
Btnl1	C	T	17: 34,379,604	H65Y	probably damaging	Het
C1s2	T	C	6: 124,635,045	T121A	probably damaging	Het
Capn1	T	A	19: 6,014,358	Y37F	probably benign	Het
Ccdc39	T	C	3: 33,815,501	K726E	probably damaging	Het
Cd300lb	G	A	11: 114,926,039	S195F	probably damaging	Het
Cenpf	T	C	1: 189,679,067	K307E	probably damaging	Het
Chodl	A	C	16: 78,941,363	N73T	possibly damaging	Het
Crnn	A	T	3: 93,148,440	M178L	probably benign	Het
Cyp4a12b	A	G	4: 115,432,913	D221G	probably damaging	Het
D10Wsu102e	C	T	10: 83,365,792	S143L	probably damaging	Het
Dmxl2	A	G	9: 54,393,813	V2338A	probably benign	Het
Dnah9	G	T	11: 66,037,585	P2086Q	probably damaging	Het
Dsg2	A	G	18: 20,592,289	I486V	probably benign	Het
E2f8	A	G	7: 48,875,107	S265P	probably damaging	Het
Eif1b	A	G	9: 120,494,230	D52G	probably benign	Het
Etl4	A	T	2: 20,785,342	T602S	probably benign	Het
Exoc3l2	A	T	7: 19,489,134		probably benign	Het
Fbxl6	C	A	15: 76,536,973	V297F	probably damaging	Het
Fgr	T	A	4: 132,998,475	N398K	probably benign	Het
G3bp1	A	G	11: 55,489,160	R107G	probably damaging	Het
Gp2	A	T	7: 119,452,932	N186K	probably benign	Het
Hmgcs2	T	A	3: 98,297,021	L246*	probably null	Het
Hsp90ab1	G	T	17: 45,569,328	H96Q	probably benign	Het
Ibtk	C	T	9: 85,706,550	V1078I	probably benign	Het
Ltn1	T	C	16: 87,415,642	D677G	probably benign	Het
Lyst	C	T	13: 13,712,820	T3078I	possibly damaging	Het
Mamdc4	A	G	2: 25,569,390	F199S	probably damaging	Het
Megf6	G	T	4: 154,177,121	V68L	probably benign	Het
Mki67	G	A	7: 135,697,863	T1814I	probably damaging	Het
Mttp	A	T	3: 138,095,002	F766I	probably benign	Het
Nbl1	T	A	4: 139,083,604		probably null	Het
Nmrk1	T	A	19: 18,641,438	L118Q	probably damaging	Het
Olfr1381	T	G	11: 49,552,433	S229A	probably damaging	Het
Oog3	A	T	4: 144,159,512	L172H	probably damaging	Het
Osbpl1a	T	G	18: 12,759,400	Q332P	probably damaging	Het
Pik3cg	A	G	12: 32,193,710	F921L	possibly damaging	Het
Plch2	T	C	4: 154,984,597	S1086G	possibly damaging	Het
Plekha5	A	G	6: 140,424,216	T18A	possibly damaging	Het
Pogz	T	A	3: 94,878,965	S955T	probably benign	Het
Pot1b	A	T	17: 55,653,413	I639N	probably benign	Het
Prkdc	T	C	16: 15,687,390	I852T	probably benign	Het
Prps1l1	A	G	12: 34,985,522	K212R	probably benign	Het
Ptpn5	A	G	7: 47,086,059	Y304H	probably damaging	Het
Ralgapa1	A	G	12: 55,776,188	I281T	possibly damaging	Het
Rgs22	A	T	15: 36,099,734	Y278*	probably null	Het
Rif1	GCCACCA	GCCA	2: 52,110,324		probably benign	Het
Rnf213	T	A	11: 119,442,663	Y2899*	probably null	Het
Rttn	C	T	18: 88,986,073	T397I	possibly damaging	Het
Sacs	G	T	14: 61,173,453		probably null	Het
Sbf2	G	T	7: 110,461,212	Q182K	probably damaging	Het
Sec14l5	C	T	16: 5,167,104	R105*	probably null	Het
Sh2b1	A	T	7: 126,472,364	D216E	possibly damaging	Het
Sh3gl3	A	G	7: 82,270,800	N72S	possibly damaging	Het
Slc12a1	A	T	2: 125,173,699	I391F	probably damaging	Het
Slc36a2	G	A	11: 55,181,555	A77V	probably damaging	Het
Smc2	A	T	4: 52,474,987	I888L	probably benign	Het
Smoc1	C	T	12: 81,150,676	T194M	probably damaging	Het
Sorcs1	C	T	19: 50,678,192	G93R	probably benign	Het
Sox30	T	G	11: 45,991,768	F542V	probably damaging	Het
Svep1	A	G	4: 58,206,030	V116A	possibly damaging	Het
Synj2	A	G	17: 6,013,691	D330G	probably benign	Het
Tenm3	A	C	8: 48,343,349	S202A	possibly damaging	Het
Tg	C	T	15: 66,729,594	T151I	probably benign	Het
Tnfaip2	A	G	12: 111,448,093	E361G	probably damaging	Het
Tnk1	A	T	11: 69,855,183	D305E	probably damaging	Het
Tpp1	A	G	7: 105,749,970	L133P	probably damaging	Het
Trappc1	T	A	11: 69,324,417	M41K	probably damaging	Het
Tsen54	A	G	11: 115,815,723	D9G	probably damaging	Het
Ttn	T	A	2: 76,974,254	I225F	probably damaging	Het
Ube4b	T	C	4: 149,372,841	K313R	probably benign	Het
Vps50	T	C	6: 3,555,379	V425A	probably damaging	Het
Wbp2	A	T	11: 116,080,619	Y153*	probably null	Het
Xrn1	A	G	9: 95,979,220	S478G	probably benign	Het
Zfp354c	T	C	11: 50,817,142	E77G	probably benign	Het
Zfp462	T	C	4: 55,008,496	M154T	probably benign	Het
Zfp704	A	G	3: 9,474,525	V255A	probably damaging	Het
Zfp763	G	T	17: 33,019,778	A131E	probably benign	Het
Zfp931	A	T	2: 178,069,858	V32E	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
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
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'- AAATGGACTCAGTGTGCGCG -3'
(R):5'- GATGATGCCCTCCTTGGTAAC -3'

Sequencing Primer
(F):5'- TCCTCACAAAGGGCCTCCTG -3'
(R):5'- TAACGCGGCCCCATTGC -3'

Posted On

2014-09-18