Mutagenetix > Incidental Mutation

Incidental Mutation 'R5845:Hs1bp3'

453578

Institutional Source

Beutler Lab

Gene Symbol

Hs1bp3

Ensembl Gene

ENSMUSG00000020605

Gene Name

HCLS1 binding protein 3

Synonyms

MMRRC Submission

044063-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.055) question?

Stock #

R5845 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

8363432-8393824 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 8386275 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Glycine at position 226 (R226G)

Ref Sequence

ENSEMBL: ENSMUSP00000020927 (fasta)

Gene Model

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

AlphaFold

Q3TC93

Predicted Effect

probably benign
Transcript: ENSMUST00000020927
AA Change: R226G

PolyPhen 2 Score 0.253 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000020927
Gene: ENSMUSG00000020605
AA Change: R226G

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000217669

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.9%
3x: 99.4%
10x: 97.1%
20x: 90.3%

Validation Efficiency

97% (59/61)

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: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acad10	A	T	5: 121,764,146 (GRCm39)	Y928N	probably benign	Het
Amz2	T	C	11: 109,324,755 (GRCm39)	F213S	probably damaging	Het
Cage1	T	A	13: 38,199,682 (GRCm39)	S732C	probably damaging	Het
Ccnf	C	A	17: 24,459,767 (GRCm39)	D229Y	possibly damaging	Het
Cdon	G	T	9: 35,368,762 (GRCm39)	C332F	probably damaging	Het
Clca3b	G	A	3: 144,531,077 (GRCm39)	R758C	possibly damaging	Het
Cyp2ab1	C	T	16: 20,131,082 (GRCm39)	R349H	probably benign	Het
Dock10	C	T	1: 80,483,459 (GRCm39)		probably benign	Het
Dock5	A	T	14: 68,078,550 (GRCm39)	Y225N	possibly damaging	Het
Ear2	G	A	14: 44,340,618 (GRCm39)	R92K	probably benign	Het
Eif3c	T	C	7: 126,163,927 (GRCm39)	S39G	probably damaging	Het
Eml3	A	G	19: 8,916,582 (GRCm39)	D701G	probably damaging	Het
Fat3	G	A	9: 16,288,506 (GRCm39)	T339I	probably damaging	Het
Fbn2	T	C	18: 58,186,840 (GRCm39)	D1687G	possibly damaging	Het
Fcnb	C	T	2: 27,969,633 (GRCm39)		probably null	Het
Flacc1	T	A	1: 58,706,937 (GRCm39)	E243D	possibly damaging	Het
Fscb	A	G	12: 64,519,558 (GRCm39)	V636A	unknown	Het
Gm6124	A	G	7: 38,869,299 (GRCm39)		noncoding transcript	Het
Hectd4	T	A	5: 121,445,587 (GRCm39)		probably null	Het
Hrnr	A	T	3: 93,239,944 (GRCm39)	H3394L	unknown	Het
Ifngr2	T	C	16: 91,351,947 (GRCm39)	V61A	probably benign	Het
Irag2	G	A	6: 145,117,392 (GRCm39)	M376I	probably benign	Het
Kcnk2	T	C	1: 189,009,918 (GRCm39)		probably benign	Het
Kmt2d	G	A	15: 98,749,990 (GRCm39)		probably benign	Het
Mgam	T	A	6: 40,652,257 (GRCm39)	N810K	possibly damaging	Het
Mis18a	A	G	16: 90,518,522 (GRCm39)		probably null	Het
Nsmce3	A	G	7: 64,521,936 (GRCm39)	V244A	possibly damaging	Het
Or10ag59	T	C	2: 87,406,367 (GRCm39)	I313T	probably benign	Het
Plxna4	A	T	6: 32,214,711 (GRCm39)	V590D	probably damaging	Het
Prkab1	A	T	5: 116,162,219 (GRCm39)	D30E	probably benign	Het
Rasgrp3	A	T	17: 75,810,142 (GRCm39)	N281Y	possibly damaging	Het
Rnd2	C	T	11: 101,359,825 (GRCm39)	L57F	probably damaging	Het
Septin2	T	A	1: 93,426,757 (GRCm39)		probably null	Het
Slc26a6	T	G	9: 108,739,282 (GRCm39)	V609G	possibly damaging	Het
Spta1	T	A	1: 174,068,662 (GRCm39)	M2154K	probably damaging	Het
Stoml2	T	G	4: 43,030,008 (GRCm39)		probably benign	Het
Sult6b1	A	C	17: 79,202,059 (GRCm39)	S148A	probably damaging	Het
Tmem131l	A	G	3: 83,847,860 (GRCm39)	V335A	probably damaging	Het
Tmem221	T	A	8: 72,007,788 (GRCm39)		probably null	Het
Tmem88	C	G	11: 69,288,504 (GRCm39)	Q138H	probably benign	Het
Trpm8	T	C	1: 88,255,902 (GRCm39)	Y186H	probably benign	Het
Trpv1	T	C	11: 73,131,407 (GRCm39)	I7T	probably damaging	Het
Ttc34	T	C	4: 154,949,929 (GRCm39)	S961P	probably benign	Het
Ubr1	T	C	2: 120,734,486 (GRCm39)	D1138G	probably benign	Het
Ubr7	C	T	12: 102,732,571 (GRCm39)	R188C	probably damaging	Het
Uspl1	C	T	5: 149,130,770 (GRCm39)	P118S	probably benign	Het
Vdr	C	A	15: 97,767,647 (GRCm39)	E114D	possibly damaging	Het
Zfp853	C	T	5: 143,274,424 (GRCm39)	V399M	unknown	Het
Zswim4	T	A	8: 84,943,871 (GRCm39)		probably null	Het

Other mutations in Hs1bp3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01779:Hs1bp3	APN	12	8,391,945 (GRCm39)	missense	probably benign	0.45
R1745:Hs1bp3	UTSW	12	8,371,690 (GRCm39)	nonsense	probably null
R2026:Hs1bp3	UTSW	12	8,387,738 (GRCm39)	missense	probably benign
R2183:Hs1bp3	UTSW	12	8,371,610 (GRCm39)	missense	possibly damaging	0.81
R4624:Hs1bp3	UTSW	12	8,386,357 (GRCm39)	missense	probably benign
R4628:Hs1bp3	UTSW	12	8,386,357 (GRCm39)	missense	probably benign
R4672:Hs1bp3	UTSW	12	8,391,983 (GRCm39)	nonsense	probably null
R4908:Hs1bp3	UTSW	12	8,374,007 (GRCm39)	missense	probably damaging	1.00
R5582:Hs1bp3	UTSW	12	8,374,048 (GRCm39)	unclassified	probably benign
R5876:Hs1bp3	UTSW	12	8,391,843 (GRCm39)	missense	possibly damaging	0.86
R5931:Hs1bp3	UTSW	12	8,391,915 (GRCm39)	missense	probably benign	0.03
R7665:Hs1bp3	UTSW	12	8,367,935 (GRCm39)	missense	probably damaging	1.00
R8940:Hs1bp3	UTSW	12	8,391,980 (GRCm39)	missense	probably benign	0.01
R9348:Hs1bp3	UTSW	12	8,386,273 (GRCm39)	missense	probably benign	0.27
R9661:Hs1bp3	UTSW	12	8,367,940 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AAGGTTGCTTCACATGCCAAG -3'
(R):5'- TTCTCAGGGACATAGACATTCAC -3'

Sequencing Primer
(F):5'- CCAAGATGGCTCTGGTTGG -3'
(R):5'- GGGACATAGACATTCACCAAGCTC -3'

Posted On

2017-02-10