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

eRFS, 2810035F15Rik

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

21171876-21244788 bp(+) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

T to A at 21217831 bp (GRCm39)

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
2410002F23Rik	G	T	7: 43,900,435 (GRCm39)	R113S	probably benign	Het
Ackr2	A	T	9: 121,738,026 (GRCm39)	I134F	probably damaging	Het
Actr3b	T	A	5: 26,036,709 (GRCm39)	I174N	possibly damaging	Het
Akap9	T	A	5: 4,094,847 (GRCm39)	S2214T	possibly damaging	Het
Arhgef12	C	A	9: 42,890,768 (GRCm39)	R986L	possibly damaging	Het
Brap	G	T	5: 121,801,422 (GRCm39)	S59I	possibly damaging	Het
Btnl1	C	T	17: 34,598,578 (GRCm39)	H65Y	probably damaging	Het
C1s2	T	C	6: 124,612,004 (GRCm39)	T121A	probably damaging	Het
Capn1	T	A	19: 6,064,388 (GRCm39)	Y37F	probably benign	Het
Ccdc39	T	C	3: 33,869,650 (GRCm39)	K726E	probably damaging	Het
Cd300lb	G	A	11: 114,816,865 (GRCm39)	S195F	probably damaging	Het
Cenpf	T	C	1: 189,411,264 (GRCm39)	K307E	probably damaging	Het
Chodl	A	C	16: 78,738,251 (GRCm39)	N73T	possibly damaging	Het
Cimip2c	G	A	5: 30,637,851 (GRCm39)	G66E	probably damaging	Het
Crnn	A	T	3: 93,055,747 (GRCm39)	M178L	probably benign	Het
Cyp4a12b	A	G	4: 115,290,110 (GRCm39)	D221G	probably damaging	Het
Dipk2a	A	T	9: 94,406,498 (GRCm39)	I303N	probably damaging	Het
Dmxl2	A	G	9: 54,301,097 (GRCm39)	V2338A	probably benign	Het
Dnah9	G	T	11: 65,928,411 (GRCm39)	P2086Q	probably damaging	Het
Dsg2	A	G	18: 20,725,346 (GRCm39)	I486V	probably benign	Het
E2f8	A	G	7: 48,524,855 (GRCm39)	S265P	probably damaging	Het
Eif1b	A	G	9: 120,323,296 (GRCm39)	D52G	probably benign	Het
Etl4	A	T	2: 20,790,153 (GRCm39)	T602S	probably benign	Het
Exoc3l2	A	T	7: 19,223,059 (GRCm39)		probably benign	Het
Fbxl6	C	A	15: 76,421,173 (GRCm39)	V297F	probably damaging	Het
Fgr	T	A	4: 132,725,786 (GRCm39)	N398K	probably benign	Het
G3bp1	A	G	11: 55,379,986 (GRCm39)	R107G	probably damaging	Het
Gp2	A	T	7: 119,052,155 (GRCm39)	N186K	probably benign	Het
Hmgcs2	T	A	3: 98,204,337 (GRCm39)	L246*	probably null	Het
Hsp90ab1	G	T	17: 45,880,254 (GRCm39)	H96Q	probably benign	Het
Ibtk	C	T	9: 85,588,603 (GRCm39)	V1078I	probably benign	Het
Ltn1	T	C	16: 87,212,530 (GRCm39)	D677G	probably benign	Het
Lyst	C	T	13: 13,887,405 (GRCm39)	T3078I	possibly damaging	Het
Mamdc4	A	G	2: 25,459,402 (GRCm39)	F199S	probably damaging	Het
Megf6	G	T	4: 154,261,578 (GRCm39)	V68L	probably benign	Het
Mki67	G	A	7: 135,299,592 (GRCm39)	T1814I	probably damaging	Het
Msantd5l	T	A	11: 51,145,264 (GRCm39)	I108F	possibly damaging	Het
Mttp	A	T	3: 137,800,763 (GRCm39)	F766I	probably benign	Het
Nbl1	T	A	4: 138,810,915 (GRCm39)		probably null	Het
Nmrk1	T	A	19: 18,618,802 (GRCm39)	L118Q	probably damaging	Het
Nopchap1	C	T	10: 83,201,656 (GRCm39)	S143L	probably damaging	Het
Oog3	A	T	4: 143,886,082 (GRCm39)	L172H	probably damaging	Het
Or2y11	T	G	11: 49,443,260 (GRCm39)	S229A	probably damaging	Het
Osbpl1a	T	G	18: 12,892,457 (GRCm39)	Q332P	probably damaging	Het
Pik3cg	A	G	12: 32,243,709 (GRCm39)	F921L	possibly damaging	Het
Plch2	T	C	4: 155,069,054 (GRCm39)	S1086G	possibly damaging	Het
Plekha5	A	G	6: 140,369,942 (GRCm39)	T18A	possibly damaging	Het
Pogz	T	A	3: 94,786,276 (GRCm39)	S955T	probably benign	Het
Pot1b	A	T	17: 55,960,413 (GRCm39)	I639N	probably benign	Het
Prkdc	T	C	16: 15,505,254 (GRCm39)	I852T	probably benign	Het
Prps1l1	A	G	12: 35,035,521 (GRCm39)	K212R	probably benign	Het
Ptpn5	A	G	7: 46,735,807 (GRCm39)	Y304H	probably damaging	Het
Ralgapa1	A	G	12: 55,822,973 (GRCm39)	I281T	possibly damaging	Het
Rgs22	A	T	15: 36,099,880 (GRCm39)	Y278*	probably null	Het
Rif1	GCCACCA	GCCA	2: 52,000,336 (GRCm39)		probably benign	Het
Rnf213	T	A	11: 119,333,489 (GRCm39)	Y2899*	probably null	Het
Rttn	C	T	18: 89,004,197 (GRCm39)	T397I	possibly damaging	Het
Sacs	G	T	14: 61,410,902 (GRCm39)		probably null	Het
Sbf2	G	T	7: 110,060,419 (GRCm39)	Q182K	probably damaging	Het
Sec14l5	C	T	16: 4,984,968 (GRCm39)	R105*	probably null	Het
Sh2b1	A	T	7: 126,071,536 (GRCm39)	D216E	possibly damaging	Het
Sh3gl3	A	G	7: 81,920,008 (GRCm39)	N72S	possibly damaging	Het
Slc12a1	A	T	2: 125,015,619 (GRCm39)	I391F	probably damaging	Het
Slc36a2	G	A	11: 55,072,381 (GRCm39)	A77V	probably damaging	Het
Smc2	A	T	4: 52,474,987 (GRCm39)	I888L	probably benign	Het
Smoc1	C	T	12: 81,197,450 (GRCm39)	T194M	probably damaging	Het
Sorcs1	C	T	19: 50,666,630 (GRCm39)	G93R	probably benign	Het
Sox30	T	G	11: 45,882,595 (GRCm39)	F542V	probably damaging	Het
Svep1	A	G	4: 58,206,030 (GRCm39)	V116A	possibly damaging	Het
Synj2	A	G	17: 6,063,966 (GRCm39)	D330G	probably benign	Het
Tenm3	A	C	8: 48,796,384 (GRCm39)	S202A	possibly damaging	Het
Tg	C	T	15: 66,601,443 (GRCm39)	T151I	probably benign	Het
Tnfaip2	A	G	12: 111,414,527 (GRCm39)	E361G	probably damaging	Het
Tnk1	A	T	11: 69,746,009 (GRCm39)	D305E	probably damaging	Het
Tpp1	A	G	7: 105,399,177 (GRCm39)	L133P	probably damaging	Het
Trappc1	T	A	11: 69,215,243 (GRCm39)	M41K	probably damaging	Het
Tsen54	A	G	11: 115,706,549 (GRCm39)	D9G	probably damaging	Het
Ttn	T	A	2: 76,804,598 (GRCm39)	I225F	probably damaging	Het
Ube4b	T	C	4: 149,457,298 (GRCm39)	K313R	probably benign	Het
Vps50	T	C	6: 3,555,379 (GRCm39)	V425A	probably damaging	Het
Wbp2	A	T	11: 115,971,445 (GRCm39)	Y153*	probably null	Het
Xrn1	A	G	9: 95,861,273 (GRCm39)	S478G	probably benign	Het
Zfp354c	T	C	11: 50,707,969 (GRCm39)	E77G	probably benign	Het
Zfp462	T	C	4: 55,008,496 (GRCm39)	M154T	probably benign	Het
Zfp704	A	G	3: 9,539,585 (GRCm39)	V255A	probably damaging	Het
Zfp763	G	T	17: 33,238,752 (GRCm39)	A131E	probably benign	Het
Zfp931	A	T	2: 177,711,651 (GRCm39)	V32E	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
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
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'- AAATGGACTCAGTGTGCGCG -3'
(R):5'- GATGATGCCCTCCTTGGTAAC -3'

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

Posted On

2014-09-18