Mutagenetix > Incidental Mutation

Incidental Mutation 'R9661:Hs1bp3'

727593

Institutional Source

Beutler Lab

Gene Symbol

Hs1bp3

Ensembl Gene

ENSMUSG00000020605

Gene Name

HCLS1 binding protein 3

Synonyms

MMRRC Submission

Accession Numbers

Essential gene?

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

Stock #

R9661 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

8363432-8393824 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 8367940 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 63 (V63A)

Ref Sequence

ENSEMBL: ENSMUSP00000020927 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000020927] [ENSMUST00000220199] [ENSMUST00000220300]

AlphaFold

Q3TC93

Predicted Effect

probably damaging
Transcript: ENSMUST00000020927
AA Change: V63A

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000020927
Gene: ENSMUSG00000020605
AA Change: V63A

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000220199
AA Change: V63A

PolyPhen 2 Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)

Predicted Effect

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.] 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: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A430033K04Rik	T	A	5: 138,645,451 (GRCm39)	H445Q	possibly damaging	Het
Aadacl4	C	A	4: 144,340,287 (GRCm39)	P4Q	probably damaging	Het
Adgre1	A	G	17: 57,748,368 (GRCm39)	T523A	possibly damaging	Het
Arhgap32	A	G	9: 32,168,531 (GRCm39)	E838G	probably benign	Het
Atad5	G	T	11: 79,980,542 (GRCm39)		probably benign	Het
Card10	C	T	15: 78,683,318 (GRCm39)	R275H	probably damaging	Het
Cdh16	A	G	8: 105,345,612 (GRCm39)	V327A	probably benign	Het
Clip2	C	T	5: 134,533,616 (GRCm39)	R487Q	probably benign	Het
Cttnbp2	T	A	6: 18,429,151 (GRCm39)	Q159L		Het
D630003M21Rik	A	G	2: 158,047,673 (GRCm39)	L732P	possibly damaging	Het
Dgcr8	T	C	16: 18,098,579 (GRCm39)	I308V	possibly damaging	Het
Dhx9	A	G	1: 153,340,393 (GRCm39)	F702L	probably damaging	Het
Dpy19l1	T	C	9: 24,386,730 (GRCm39)	Y188C	probably damaging	Het
Eea1	T	C	10: 95,862,742 (GRCm39)	L888S	probably benign	Het
Elmo1	T	C	13: 20,469,531 (GRCm39)		probably null	Het
Fam186a	T	A	15: 99,842,492 (GRCm39)	I1251F	possibly damaging	Het
Fer1l4	G	A	2: 155,862,336 (GRCm39)	A1779V	probably damaging	Het
Fgfrl1	C	T	5: 108,853,841 (GRCm39)	T407I	probably benign	Het
Gkn1	T	C	6: 87,325,173 (GRCm39)	K79E	probably damaging	Het
Gm11564	C	T	11: 99,706,247 (GRCm39)	R61H	unknown	Het
Gpr107	T	C	2: 31,057,075 (GRCm39)	F56L	probably benign	Het
H2-T22	T	C	17: 36,353,371 (GRCm39)		probably benign	Het
Htr6	A	G	4: 138,801,963 (GRCm39)	I37T	probably damaging	Het
Kifc5b	T	C	17: 27,140,836 (GRCm39)		probably null	Het
Lrfn2	T	C	17: 49,403,650 (GRCm39)	I591T	probably benign	Het
Lrrc49	A	T	9: 60,573,582 (GRCm39)	I300N	probably damaging	Het
Lyst	A	G	13: 13,808,779 (GRCm39)	T150A	probably benign	Het
Myh11	T	C	16: 14,041,857 (GRCm39)	Q722R		Het
Nek9	T	C	12: 85,361,253 (GRCm39)	Q484R	possibly damaging	Het
Nfs1	A	T	2: 155,970,473 (GRCm39)	V280E	probably damaging	Het
Notch3	T	A	17: 32,373,792 (GRCm39)	D472V	probably damaging	Het
Nt5c1b	T	C	12: 10,425,450 (GRCm39)	V273A	probably damaging	Het
Nudt12	T	C	17: 59,316,981 (GRCm39)	D222G	probably benign	Het
Nup98	G	A	7: 101,782,019 (GRCm39)	Q1204*	probably null	Het
Nwd2	A	T	5: 63,957,780 (GRCm39)	Y370F	probably damaging	Het
Oas3	A	T	5: 120,904,230 (GRCm39)	I548N	unknown	Het
Ogfr	A	T	2: 180,233,431 (GRCm39)	N78Y	probably damaging	Het
Or10ak11	A	T	4: 118,687,526 (GRCm39)	L36Q	probably benign	Het
Prkcq	A	T	2: 11,250,141 (GRCm39)	K153*	probably null	Het
Ptpdc1	T	A	13: 48,739,610 (GRCm39)	N607I	probably benign	Het
Rab5c	G	T	11: 100,606,917 (GRCm39)	Q221K	probably benign	Het
Ret	G	A	6: 118,150,437 (GRCm39)	T693I	probably benign	Het
Rnf20	A	G	4: 49,654,556 (GRCm39)	E871G	probably damaging	Het
Rtl1	G	T	12: 109,557,346 (GRCm39)	P1498T	possibly damaging	Het
Septin9	C	G	11: 117,245,751 (GRCm39)	R458G	possibly damaging	Het
Sh2d2a	T	C	3: 87,756,788 (GRCm39)		probably null	Het
Slc14a1	C	A	18: 78,152,807 (GRCm39)	A367S	probably damaging	Het
Slc16a4	T	A	3: 107,213,359 (GRCm39)	D451E	probably benign	Het
Slc36a3	A	G	11: 55,015,984 (GRCm39)	F390S	probably benign	Het
Slc4a2	T	A	5: 24,640,005 (GRCm39)	M576K	probably damaging	Het
Smim14	T	C	5: 65,610,533 (GRCm39)	H88R	possibly damaging	Het
Spata31e5	G	T	1: 28,816,536 (GRCm39)	H499N	probably benign	Het
Sspo	C	T	6: 48,455,272 (GRCm39)	Q3045*	probably null	Het
Supt7l	C	A	5: 31,680,403 (GRCm39)	R3M	probably damaging	Het
Tjap1	A	G	17: 46,571,092 (GRCm39)	W132R	probably damaging	Het
Tmem26	T	A	10: 68,559,838 (GRCm39)	W37R	probably damaging	Het
Tut7	T	C	13: 59,937,332 (GRCm39)	D1155G	probably damaging	Het
Vmn1r119	C	T	7: 20,746,224 (GRCm39)	V53M	possibly damaging	Het
Vmn2r54	A	T	7: 12,349,166 (GRCm39)	N805K	probably benign	Het
Zfp638	T	C	6: 83,923,320 (GRCm39)	V706A	probably damaging	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
R5845:Hs1bp3	UTSW	12	8,386,275 (GRCm39)	missense	probably benign	0.25
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

Predicted Primers

PCR Primer
(F):5'- GACACATAGCTGAATGACCCAG -3'
(R):5'- TTGCTGTGGACTCTAGGCAC -3'

Sequencing Primer
(F):5'- CGAAGGCTGCTAATTTGCAC -3'
(R):5'- GACTCTAGGCACAGGTCTACTCTG -3'

Posted On

2022-10-06