Mutagenetix > Incidental Mutation

Incidental Mutation 'R5876:Hs1bp3'

455547

Institutional Source

Beutler Lab

Gene Symbol

Hs1bp3

Ensembl Gene

ENSMUSG00000020605

Gene Name

HCLS1 binding protein 3

Synonyms

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.054) question?

Stock #

R5876 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

8313432-8343824 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 8341843 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 315 (D315G)

Ref Sequence

ENSEMBL: ENSMUSP00000020927 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000020927]

AlphaFold

Q3TC93

Predicted Effect

possibly damaging
Transcript: ENSMUST00000020927
AA Change: D315G

PolyPhen 2 Score 0.857 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000020927
Gene: ENSMUSG00000020605
AA Change: D315G

Domain	Start	End	E-Value	Type
PX	22	138	2.51e-22	SMART
low complexity region	326	348	N/A	INTRINSIC

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 97.9%
20x: 93.6%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene shares similarity with mouse Hs1bp3, an Hcls1/Hs1-interacting protein that may be involved in lymphocyte activation. [provided by RefSeq, Jul 2008]

Allele List at MGI

Other mutations in this stock

Total: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700034E13Rik	A	G	18: 52,663,582 (GRCm38)	D64G	possibly damaging	Het
Ano2	T	A	6: 126,039,279 (GRCm38)	M925K	possibly damaging	Het
Arnt2	T	C	7: 84,347,512 (GRCm38)	T69A	probably damaging	Het
Asap2	T	A	12: 21,212,809 (GRCm38)	N229K	possibly damaging	Het
Atp13a3	T	A	16: 30,362,734 (GRCm38)	N23Y	probably benign	Het
Cbr4	G	A	8: 61,490,593 (GRCm38)	G91R	possibly damaging	Het
Cdc27	A	T	11: 104,515,418 (GRCm38)	C624S	probably benign	Het
Cdc42bpg	T	A	19: 6,310,815 (GRCm38)	I201N	probably damaging	Het
Cdh5	A	G	8: 104,142,577 (GRCm38)	Y645C	probably damaging	Het
Celsr2	C	T	3: 108,413,943 (GRCm38)	V518I	probably damaging	Het
Clca4b	T	C	3: 144,912,060 (GRCm38)	T761A	possibly damaging	Het
Cpne4	C	A	9: 104,925,770 (GRCm38)	S204R	probably damaging	Het
Dcaf1	T	C	9: 106,863,650 (GRCm38)	W1279R	probably damaging	Het
Dennd4a	C	T	9: 64,911,755 (GRCm38)	P1731S	probably damaging	Het
Dmxl1	T	A	18: 49,870,984 (GRCm38)	V892D	possibly damaging	Het
Fam131b	A	G	6: 42,321,248 (GRCm38)		probably null	Het
Fam83b	T	A	9: 76,491,850 (GRCm38)	D657V	possibly damaging	Het
Fam83e	T	A	7: 45,722,363 (GRCm38)		probably null	Het
Fbxo4	A	T	15: 3,977,819 (GRCm38)	I121N	probably damaging	Het
Gabrg2	A	G	11: 41,968,820 (GRCm38)	S202P	probably damaging	Het
Grid2	T	A	6: 64,663,162 (GRCm38)	I788N	probably damaging	Het
Grik4	T	A	9: 42,688,023 (GRCm38)	N53Y	probably damaging	Het
Hipk2	A	C	6: 38,730,867 (GRCm38)		probably null	Het
Hps5	T	C	7: 46,789,196 (GRCm38)	T38A	probably damaging	Het
Kdm4a	C	T	4: 118,138,876 (GRCm38)	M985I	probably damaging	Het
Kdm5d	A	G	Y: 900,525 (GRCm38)	Y190C	probably damaging	Het
Krt86	T	C	15: 101,476,610 (GRCm38)	S295P	probably damaging	Het
Matr3	T	A	18: 35,587,738 (GRCm38)	D413E	probably benign	Het
Mbd5	T	A	2: 49,274,645 (GRCm38)	F319L	probably damaging	Het
Mcoln1	T	A	8: 3,510,910 (GRCm38)	Y411N	probably damaging	Het
Mpdz	C	A	4: 81,285,474 (GRCm38)	E1863*	probably null	Het
Mrps9	A	G	1: 42,895,378 (GRCm38)	E173G	probably damaging	Het
Or7a42	A	T	10: 78,955,357 (GRCm38)	I51F	probably benign	Het
Osmr	T	C	15: 6,821,047 (GRCm38)	T692A	probably benign	Het
Pkhd1l1	A	T	15: 44,578,588 (GRCm38)	H3641L	possibly damaging	Het
Pml	T	C	9: 58,233,182 (GRCm38)	T421A	possibly damaging	Het
Podxl	A	G	6: 31,528,456 (GRCm38)		probably null	Het
Ppargc1b	C	G	18: 61,309,093 (GRCm38)	D591H	probably damaging	Het
Prkag3	A	G	1: 74,748,816 (GRCm38)		probably benign	Het
Proz	A	G	8: 13,073,448 (GRCm38)	R240G	probably benign	Het
Ptpn13	C	A	5: 103,476,960 (GRCm38)	D43E	probably damaging	Het
Rbm5	T	G	9: 107,760,326 (GRCm38)	K135N	probably damaging	Het
Ska1	G	A	18: 74,197,528 (GRCm38)	T201M	probably damaging	Het
Slc35f5	A	C	1: 125,587,363 (GRCm38)		probably null	Het
Slc9a3	T	C	13: 74,161,723 (GRCm38)	L510P	probably damaging	Het
Speer4a2	T	C	5: 26,084,718 (GRCm38)	E237G	probably damaging	Het
Svil	A	G	18: 5,082,828 (GRCm38)	K1231E	probably damaging	Het
Tanc2	T	C	11: 105,922,613 (GRCm38)	S1628P	possibly damaging	Het
Tm9sf3	T	A	19: 41,240,584 (GRCm38)	D260V	probably damaging	Het
Ttc9	G	T	12: 81,631,622 (GRCm38)	R73L	probably damaging	Het
Vps13b	A	G	15: 35,917,061 (GRCm38)	I3684V	probably damaging	Het
Vps8	T	C	16: 21,461,439 (GRCm38)		probably null	Het
Vwa3b	T	A	1: 37,076,439 (GRCm38)	I328N	probably damaging	Het
Wdr1	C	T	5: 38,530,023 (GRCm38)	V222M	probably benign	Het
Xpnpep1	T	A	19: 52,997,008 (GRCm38)	T530S	probably damaging	Het
Zc3h6	C	T	2: 128,993,277 (GRCm38)	S111F	probably benign	Het
Zfp768	G	A	7: 127,344,546 (GRCm38)	P137S	probably benign	Het

Other mutations in Hs1bp3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01779:Hs1bp3	APN	12	8,341,945 (GRCm38)	missense	probably benign	0.45
R1745:Hs1bp3	UTSW	12	8,321,690 (GRCm38)	nonsense	probably null
R2026:Hs1bp3	UTSW	12	8,337,738 (GRCm38)	missense	probably benign
R2183:Hs1bp3	UTSW	12	8,321,610 (GRCm38)	missense	possibly damaging	0.81
R4624:Hs1bp3	UTSW	12	8,336,357 (GRCm38)	missense	probably benign
R4628:Hs1bp3	UTSW	12	8,336,357 (GRCm38)	missense	probably benign
R4672:Hs1bp3	UTSW	12	8,341,983 (GRCm38)	nonsense	probably null
R4908:Hs1bp3	UTSW	12	8,324,007 (GRCm38)	missense	probably damaging	1.00
R5582:Hs1bp3	UTSW	12	8,324,048 (GRCm38)	unclassified	probably benign
R5845:Hs1bp3	UTSW	12	8,336,275 (GRCm38)	missense	probably benign	0.25
R5931:Hs1bp3	UTSW	12	8,341,915 (GRCm38)	missense	probably benign	0.03
R7665:Hs1bp3	UTSW	12	8,317,935 (GRCm38)	missense	probably damaging	1.00
R8940:Hs1bp3	UTSW	12	8,341,980 (GRCm38)	missense	probably benign	0.01
R9348:Hs1bp3	UTSW	12	8,336,273 (GRCm38)	missense	probably benign	0.27
R9661:Hs1bp3	UTSW	12	8,317,940 (GRCm38)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CCAGCAGGTTTGAAGTGGTG -3'
(R):5'- ACTGCAAGATGTCCATTTCATCC -3'

Sequencing Primer
(F):5'- TGTCACCACCAAGGGACTG -3'
(R):5'- GCAAGATGTCCATTTCATCCATAGC -3'

Posted On

2017-02-10