Mutagenetix > Incidental Mutation

Incidental Mutation 'R1745:Hs1bp3'

193942

Institutional Source

Beutler Lab

Gene Symbol

Hs1bp3

Ensembl Gene

ENSMUSG00000020605

Gene Name

HCLS1 binding protein 3

Synonyms

MMRRC Submission

039777-MU

Accession Numbers

Essential gene?

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

Stock #

R1745 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

8363432-8393824 bp(+) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

C to T at 8371690 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Stop codon at position 91 (Q91*)

Ref Sequence

ENSEMBL: ENSMUSP00000151390 (fasta)

Gene Model

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

AlphaFold

Q3TC93

Predicted Effect

probably null
Transcript: ENSMUST00000020927
AA Change: Q124*

SMART Domains

Protein: ENSMUSP00000020927
Gene: ENSMUSG00000020605
AA Change: Q124*

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

Predicted Effect

probably benign
Transcript: ENSMUST00000220199

Predicted Effect

probably null
Transcript: ENSMUST00000220300
AA Change: Q91*

Meta Mutation Damage Score

0.9755

Coding Region Coverage

1x: 97.4%
3x: 96.9%
10x: 95.3%
20x: 92.5%

Validation Efficiency

98% (54/55)

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: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc10	A	T	17: 46,623,359 (GRCm39)	V851E	probably benign	Het
Adam28	A	G	14: 68,870,620 (GRCm39)	I351T	probably benign	Het
Agrp	G	T	8: 106,293,467 (GRCm39)	T106K	probably damaging	Het
Anpep	C	T	7: 79,488,004 (GRCm39)	E518K	probably benign	Het
Ap2a1	T	C	7: 44,556,369 (GRCm39)	E285G	probably damaging	Het
Arfgef1	A	C	1: 10,243,480 (GRCm39)	I1023R	probably damaging	Het
Atp2c2	G	A	8: 120,451,833 (GRCm39)	V133I	probably benign	Het
Bpifb6	A	G	2: 153,753,403 (GRCm39)	T401A	possibly damaging	Het
Capn3	G	A	2: 120,320,170 (GRCm39)	V283M	possibly damaging	Het
Chd6	A	T	2: 160,823,587 (GRCm39)	V1261E	probably damaging	Het
Col22a1	C	T	15: 71,878,636 (GRCm39)	A174T	probably damaging	Het
Crnn	T	C	3: 93,054,198 (GRCm39)	V27A	probably benign	Het
Dclk2	C	T	3: 86,712,946 (GRCm39)	R503Q	possibly damaging	Het
Dgkd	T	C	1: 87,859,766 (GRCm39)		probably null	Het
Diaph3	A	G	14: 87,203,996 (GRCm39)	L554P	probably damaging	Het
Ephb4	A	T	5: 137,358,696 (GRCm39)	H293L	probably benign	Het
Erbin	G	T	13: 103,975,957 (GRCm39)	H646N	probably damaging	Het
Faiml	T	C	9: 99,116,511 (GRCm39)	N60D	probably benign	Het
Fem1al	A	G	11: 29,774,723 (GRCm39)	S245P	probably benign	Het
Flot1	A	G	17: 36,135,552 (GRCm39)	E102G	probably damaging	Het
Fryl	G	A	5: 73,190,204 (GRCm39)		probably benign	Het
Gad1-ps	A	T	10: 99,281,386 (GRCm39)		noncoding transcript	Het
Gtf3c3	A	G	1: 54,473,371 (GRCm39)	S81P	probably damaging	Het
Igf1r	T	C	7: 67,819,661 (GRCm39)	C324R	probably damaging	Het
Il23r	G	A	6: 67,443,275 (GRCm39)	T276I	probably damaging	Het
Ip6k1	G	A	9: 107,918,195 (GRCm39)	E77K	possibly damaging	Het
Kctd1	A	T	18: 15,196,263 (GRCm39)		probably benign	Het
Kmt2b	A	T	7: 30,285,275 (GRCm39)	M539K	possibly damaging	Het
Man2b1	T	A	8: 85,820,563 (GRCm39)	F617I	probably damaging	Het
Med15	G	A	16: 17,473,570 (GRCm39)		probably benign	Het
Myo9b	A	G	8: 71,806,691 (GRCm39)	K1543R	probably damaging	Het
N4bp2	A	G	5: 65,948,165 (GRCm39)	Y265C	probably benign	Het
N4bp2l2	A	T	5: 150,585,424 (GRCm39)	N185K	probably benign	Het
Nkx2-1	A	G	12: 56,580,529 (GRCm39)	M137T	probably benign	Het
Or51q1c	A	G	7: 103,653,270 (GRCm39)	T269A	probably benign	Het
Prickle2	A	T	6: 92,353,574 (GRCm39)	Y631N	probably damaging	Het
Ptpro	A	G	6: 137,377,643 (GRCm39)	T698A	probably benign	Het
Rapgef3	T	C	15: 97,648,059 (GRCm39)	I690V	probably benign	Het
Rnf44	G	A	13: 54,830,005 (GRCm39)	R271W	probably damaging	Het
Rundc3a	GAGCC	GAGCCAGCC	11: 102,291,739 (GRCm39)		probably null	Het
Ryr2	A	G	13: 11,805,153 (GRCm39)	Y904H	probably damaging	Het
Suz12	T	C	11: 79,912,922 (GRCm39)	L322P	probably damaging	Het
Tnfsf13	G	A	11: 69,575,973 (GRCm39)	A38V	probably benign	Het
Topbp1	G	A	9: 103,186,044 (GRCm39)	R62H	probably benign	Het
Tor1aip1	G	T	1: 155,906,180 (GRCm39)		probably null	Het
Trpv4	A	T	5: 114,771,215 (GRCm39)	V438E	probably damaging	Het
Tsku	A	T	7: 98,001,386 (GRCm39)	V315E	possibly damaging	Het
Ttc38	T	C	15: 85,717,373 (GRCm39)	L16P	probably damaging	Het
Vmn1r170	A	G	7: 23,305,759 (GRCm39)	I54V	probably damaging	Het
Vmn1r71	T	C	7: 10,482,196 (GRCm39)	D98G	probably benign	Het
Wdfy3	A	T	5: 102,096,795 (GRCm39)	D334E	probably damaging	Het
Zfhx3	T	A	8: 109,682,494 (GRCm39)	F3311Y	unknown	Het
Zswim9	A	G	7: 13,003,482 (GRCm39)	S123P	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
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
R9661:Hs1bp3	UTSW	12	8,367,940 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CAGCGAGATCGAGGAGTTTTACCAG -3'
(R):5'- TACCGAAGAGCGTGAGGTCCTTAG -3'

Sequencing Primer
(F):5'- TCGAGGAGTTTTACCAGAAGCTG -3'
(R):5'- ATTCAGCCCAGGGGGTTATC -3'

Posted On

2014-05-23