Mutagenetix > Incidental Mutation

Incidental Mutation 'R7665:Hs1bp3'

591878

Institutional Source

Beutler Lab

Gene Symbol

Hs1bp3

Ensembl Gene

ENSMUSG00000020605

Gene Name

HCLS1 binding protein 3

Synonyms

MMRRC Submission

045739-MU

Accession Numbers

Essential gene?

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

Stock #

R7665 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

8363432-8393824 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 8367935 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 61 (D61E)

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: D61E

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

SMART Domains

Protein: ENSMUSP00000020927
Gene: ENSMUSG00000020605
AA Change: D61E

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: D61E

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

Predicted Effect

probably damaging
Transcript: ENSMUST00000220300
AA Change: D28E

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.2%

Validation Efficiency

100% (72/72)

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: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930519G04Rik	A	G	5: 115,012,384 (GRCm39)		probably null	Het
A830018L16Rik	T	C	1: 12,042,323 (GRCm39)	S448P	probably damaging	Het
Abca4	C	T	3: 121,838,139 (GRCm39)		probably benign	Het
Ackr2	A	G	9: 121,738,374 (GRCm39)	M250V	probably benign	Het
Actn4	A	G	7: 28,615,632 (GRCm39)	I147T	probably damaging	Het
Adgrv1	C	T	13: 81,647,261 (GRCm39)	S3093N	probably damaging	Het
Arid5b	C	T	10: 67,934,417 (GRCm39)	G495E	probably benign	Het
Armh1	C	A	4: 117,070,938 (GRCm39)	A396S	probably benign	Het
Brwd1	G	A	16: 95,842,543 (GRCm39)	T798M	probably benign	Het
Cdk13	G	A	13: 17,947,138 (GRCm39)	T540I	possibly damaging	Het
Cdkn1c	A	G	7: 143,014,371 (GRCm39)	V25A	possibly damaging	Het
Col2a1	T	C	15: 97,874,581 (GRCm39)	E1420G	unknown	Het
Dbf4	G	A	5: 8,447,867 (GRCm39)	P448S	probably damaging	Het
Dnajb7	T	C	15: 81,291,620 (GRCm39)	N239S	probably benign	Het
Dnttip1	A	G	2: 164,596,061 (GRCm39)	D102G	probably damaging	Het
Dpp8	T	A	9: 64,986,000 (GRCm39)	V830D	probably damaging	Het
Eddm13	G	A	7: 6,272,891 (GRCm39)		probably null	Het
Eef1g	T	C	19: 8,945,653 (GRCm39)	V29A	probably benign	Het
Enpp2	T	A	15: 54,702,790 (GRCm39)	Y906F	probably damaging	Het
Epb41l4a	A	G	18: 34,139,069 (GRCm39)	L23P	possibly damaging	Het
Exoc1	T	A	5: 76,691,420 (GRCm39)	M248K	probably benign	Het
Fam83b	T	C	9: 76,398,157 (GRCm39)	Y982C	probably damaging	Het
Fat4	C	T	3: 38,943,327 (GRCm39)	A740V	probably benign	Het
Fsip2	T	A	2: 82,812,149 (GRCm39)	S2823T	probably benign	Het
Gckr	T	C	5: 31,454,899 (GRCm39)			Het
Gpr150	A	T	13: 76,204,093 (GRCm39)	V284E	probably damaging	Het
Grtp1	T	G	8: 13,227,103 (GRCm39)	I344L	probably benign	Het
Heatr5a	T	A	12: 52,008,313 (GRCm39)	N10I	probably damaging	Het
Herc2	C	A	7: 55,802,903 (GRCm39)	L2109I	probably damaging	Het
Ifit1bl1	T	A	19: 34,572,283 (GRCm39)	Y58F	probably benign	Het
Itfg1	A	G	8: 86,490,979 (GRCm39)	F317L	probably benign	Het
Itsn1	T	C	16: 91,638,491 (GRCm39)	I764T	unknown	Het
Med8	A	C	4: 118,268,853 (GRCm39)		probably null	Het
Mpeg1	C	A	19: 12,440,458 (GRCm39)	P639T	probably damaging	Het
Mtcl3	T	A	10: 29,072,393 (GRCm39)	Y562N	probably damaging	Het
Nedd9	A	G	13: 41,469,785 (GRCm39)	L456P	probably benign	Het
Neo1	A	G	9: 58,833,078 (GRCm39)	S556P	probably damaging	Het
Nphp3	T	A	9: 103,882,592 (GRCm39)		probably null	Het
Nup205	T	C	6: 35,154,555 (GRCm39)	V53A	possibly damaging	Het
Nvl	A	T	1: 180,962,509 (GRCm39)	S154T	probably benign	Het
Or10h1	G	T	17: 33,418,603 (GRCm39)	G194*	probably null	Het
Or1e31	A	T	11: 73,689,787 (GRCm39)	N265K	probably benign	Het
Or2ag2	A	T	7: 106,485,880 (GRCm39)	V48D	possibly damaging	Het
Or2h2c	A	G	17: 37,422,283 (GRCm39)	M197T	probably benign	Het
Or51ah3	A	T	7: 103,210,523 (GRCm39)	I280F	probably benign	Het
Or9k7	T	A	10: 130,047,130 (GRCm39)		probably null	Het
Parvg	T	C	15: 84,222,002 (GRCm39)	I243T	probably damaging	Het
Paxip1	T	A	5: 27,970,736 (GRCm39)	M538L	unknown	Het
Pgghg	G	T	7: 140,525,382 (GRCm39)	D428Y	probably damaging	Het
Pik3cd	C	T	4: 149,738,507 (GRCm39)	V777M	possibly damaging	Het
Plcl2	A	C	17: 50,914,185 (GRCm39)	K398T	probably benign	Het
Plxna1	A	T	6: 89,301,520 (GRCm39)		probably null	Het
Rbbp6	T	A	7: 122,589,255 (GRCm39)		probably null	Het
Rbbp6	T	C	7: 122,593,909 (GRCm39)	Y514H	possibly damaging	Het
Scin	T	A	12: 40,119,414 (GRCm39)	N538I	probably damaging	Het
Sdcbp	A	G	4: 6,385,144 (GRCm39)	D121G	probably benign	Het
Sgk1	T	C	10: 21,872,561 (GRCm39)	I311T	probably damaging	Het
Shq1	A	C	6: 100,550,717 (GRCm39)	L407W	probably damaging	Het
Sipa1	A	T	19: 5,701,699 (GRCm39)	S979T	probably benign	Het
Slc25a37	G	T	14: 69,487,028 (GRCm39)	T85K	probably benign	Het
Spag9	A	T	11: 93,904,480 (GRCm39)	Q112L	probably damaging	Het
Spg11	A	T	2: 121,896,748 (GRCm39)	V1686E	probably damaging	Het
Stap2	A	G	17: 56,304,909 (GRCm39)	V291A	probably benign	Het
Tnk2	C	T	16: 32,499,344 (GRCm39)	R886C	probably damaging	Het
Tnrc6c	T	A	11: 117,611,777 (GRCm39)	D138E	possibly damaging	Het
Unc13c	A	G	9: 73,587,756 (GRCm39)	S1426P	probably benign	Het
Vav1	G	A	17: 57,604,086 (GRCm39)	V163M	probably damaging	Het
Vmn2r67	T	A	7: 84,801,196 (GRCm39)	K247*	probably null	Het
Zc2hc1c	T	C	12: 85,343,336 (GRCm39)	V491A	possibly damaging	Het
Zfp51	A	G	17: 21,683,843 (GRCm39)	T153A	probably benign	Het
Zyx	A	G	6: 42,333,096 (GRCm39)	E374G	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
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'- GGACACATAGCTGAATGACCC -3'
(R):5'- TAGGCACAGGTCTACTCTGG -3'

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

Posted On

2019-11-12