Mutagenetix > Incidental Mutation

Incidental Mutation 'R7909:Hbs1l'

610371

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 #

R7909 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

21295979-21368898 bp(+) (GRCm38)

Type of Mutation

critical splice donor site (1 bp from exon)

DNA Base Change (assembly)

G to A at 21358404 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000151689 (fasta)

Gene Model

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

AlphaFold

Q69ZS7

Predicted Effect

probably null
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 null
Transcript: ENSMUST00000219915

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

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
4930412O13Rik	C	A	2: 9,883,857	P91Q	unknown	Het
Abhd4	C	T	14: 54,261,630	Q23*	probably null	Het
Acaca	T	A	11: 84,245,235	I472N	possibly damaging	Het
Angptl7	T	C	4: 148,496,210	N320S	probably benign	Het
Arrdc4	C	T	7: 68,745,176	E112K	probably benign	Het
BC028528	CTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTT	CTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTT	3: 95,888,136		probably benign	Het
BC028528	GTGGTCACTGGTTCTGTGGTCACTGGTT	GTGGTCACTGGTTCTTTGGTCACTGGTTCTGTGGTCACTGGTT	3: 95,888,163		probably benign	Het
BC028528	TGGTCACTGGTTCTGTGGTCACTGGTT	TGGTCACTGGTTCTGGGGTCACTGGTTCTGTGGTCACTGGTT	3: 95,888,164		probably benign	Het
BC028528	CACTGGTTCTGTGGT	CACTGGTTCTGTGGTGACTGGTTCTGTGGT	3: 95,888,168		probably benign	Het
BC028528	TGTGGTCACTGGTT	TGTGGTCACTGGTTCCGTGGTCACTGGTT	3: 95,888,177		probably benign	Het
Ccdc13	T	A	9: 121,833,860	M30L	probably benign	Het
Ceacam9	A	G	7: 16,723,868	Y102C	probably damaging	Het
Dennd4a	G	T	9: 64,872,993		probably null	Het
Dusp1	A	T	17: 26,507,612	S159T	probably benign	Het
Dyrk3	A	T	1: 131,129,587	V283E	probably damaging	Het
Fam208b	T	C	13: 3,573,765	I2062V	possibly damaging	Het
Fndc7	A	T	3: 108,862,916	S651T	probably benign	Het
Gcnt2	T	A	13: 40,860,450	H32Q	probably benign	Het
Gkn2	T	A	6: 87,375,894	H68Q	possibly damaging	Het
Gm11214	T	C	4: 63,662,687	K75R	probably damaging	Het
Gm15448	T	C	7: 3,821,709	K559R	unknown	Het
Gria4	G	T	9: 4,464,450	T504K	probably damaging	Het
Gstm4	T	A	3: 108,043,416	T90S	probably benign	Het
Hdhd5	C	A	6: 120,531,191	R34S	probably benign	Het
Ighv10-1	A	T	12: 114,479,044	L107*	probably null	Het
Ints6	A	T	14: 62,759,330	H70Q	probably damaging	Het
K230010J24Rik	G	T	15: 76,046,841	R537L	possibly damaging	Het
Kcnc3	T	A	7: 44,595,687	I467N	probably damaging	Het
Klhl9	A	T	4: 88,721,001	D334E	probably benign	Het
Lama5	T	A	2: 180,192,276	N1427I	possibly damaging	Het
Lrch3	T	A	16: 33,009,293	F764L	probably benign	Het
Lyar	T	A	5: 38,224,728	V18E	probably damaging	Het
Maea	T	G	5: 33,370,474	F270C	possibly damaging	Het
Maea	C	T	5: 33,370,476	R271*	probably null	Het
Mttp	T	A	3: 138,118,417	K133*	probably null	Het
Nme6	T	A	9: 109,841,968	I92N	probably damaging	Het
Nqo2	T	A	13: 33,972,431	Y43N	probably damaging	Het
Nup153	C	T	13: 46,693,580	C791Y	probably damaging	Het
Ogdh	A	G	11: 6,313,965	I134V	possibly damaging	Het
Olfr703	G	A	7: 106,844,992	C127Y	probably benign	Het
Olfr777	G	T	10: 129,269,267	Q19K	probably benign	Het
Olfr875	T	C	9: 37,772,737	L26P	probably damaging	Het
Pde6b	A	T	5: 108,403,422	M191L	probably benign	Het
Plxdc1	A	T	11: 97,932,304	D370E	probably benign	Het
Pnldc1	C	A	17: 12,903,211	A187S	probably benign	Het
Psrc1	T	C	3: 108,385,251	V120A	probably damaging	Het
Rbpms	A	G	8: 33,864,359	S53P	probably damaging	Het
Rtl1	G	A	12: 109,590,177	L1743F	unknown	Het
Rtl1	T	A	12: 109,592,480	N975I	possibly damaging	Het
Rtn3	A	G	19: 7,456,462	S722P	possibly damaging	Het
Safb	A	G	17: 56,595,665	D187G	unknown	Het
Sept5	A	G	16: 18,624,622	V153A	probably damaging	Het
Sesn1	T	C	10: 41,811,116	V32A	probably benign	Het
Shank2	A	T	7: 144,411,394	H913L	probably damaging	Het
Slc19a1	T	A	10: 77,049,540	F425I	probably damaging	Het
Slc4a11	A	G	2: 130,692,300	M26T	probably benign	Het
Sybu	G	T	15: 44,673,037	S631*	probably null	Het
Sycp1	A	T	3: 102,820,626	Y890*	probably null	Het
Tcaf3	A	G	6: 42,591,964	V583A	possibly damaging	Het
Tctn1	A	G	5: 122,261,410	V117A	probably damaging	Het
Tmem74	A	T	15: 43,867,399	S83T	probably benign	Het
Tmem91	T	C	7: 25,670,565	D94G	probably damaging	Het
Tnks	A	T	8: 34,940,704	V290D	probably damaging	Het
Tns4	A	G	11: 99,086,023	L24P	probably damaging	Het
Tnxb	A	G	17: 34,692,454	H1577R	probably benign	Het
Tpm2	A	T	4: 43,515,939	N279K	probably benign	Het
Trim34b	A	G	7: 104,330,524	T148A	probably benign	Het
Tro	TAAGCTGGTGCTAGTGCTGGGTGCACCACCAAAGCTAATGCTCGCTGTGCTAAAGCTGGTGCTAGTGCTGGGTGCACCACCAAAGCTAATGCT	TAAGCTGGTGCTAGTGCTGGGTGCACCACCAAAGCTAATGCT	X: 150,648,624		probably benign	Het
Ttf1	T	A	2: 29,065,459	S278R	probably benign	Het
Utp20	A	T	10: 88,775,330	V1375E	probably benign	Het
Vmn2r52	C	A	7: 10,162,950	V532L	probably benign	Het
Vps13a	G	A	19: 16,720,430	R774*	probably null	Het
Vsnl1	A	T	12: 11,326,454	D143E	probably benign	Het
Yme1l1	T	A	2: 23,194,757	N622K	probably benign	Het
Zfp106	A	G	2: 120,514,219	V1748A	probably damaging	Het
Zfp513	C	T	5: 31,200,562	V158M	possibly damaging	Het
Zfp607a	A	T	7: 27,879,094	I530F	probably damaging	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
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'- TCCACTTGTCACCACTGAGC -3'
(R):5'- CATGCATTACAGCTTTCATCCCAAG -3'

Sequencing Primer
(F):5'- CCATTCAGATTGAAAGCGATGGGC -3'
(R):5'- TTACAGCTTTCATCCCAAGTACAC -3'

Posted On

2019-12-20