Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01779:Hs1bp3'

153898

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Hs1bp3

Ensembl Gene

ENSMUSG00000020605

Gene Name

HCLS1 binding protein 3

Synonyms

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.064) question?

Stock #

IGL01779

Quality Score

Status

Chromosome

Chromosomal Location

8313432-8343824 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 8341945 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Isoleucine at position 349 (T349I)

Ref Sequence

ENSEMBL: ENSMUSP00000020927 (fasta)

Gene Model

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

AlphaFold

Q3TC93

Predicted Effect

probably benign
Transcript: ENSMUST00000020927
AA Change: T349I

PolyPhen 2 Score 0.451 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000020927
Gene: ENSMUSG00000020605
AA Change: T349I

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

Coding Region Coverage

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: 28 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrl3	A	T	5: 81,387,870	I119F	probably damaging	Het
Akt1	C	T	12: 112,657,169	G286R	probably damaging	Het
Apof	A	G	10: 128,269,477	I167V	probably benign	Het
Arhgap15	A	G	2: 44,065,045	E220G	possibly damaging	Het
Clca3a2	T	A	3: 144,819,378	Y31F	possibly damaging	Het
Clmn	T	C	12: 104,782,140	I383V	probably benign	Het
Cntnap5b	A	G	1: 99,967,339	D112G	probably damaging	Het
Col8a1	A	T	16: 57,628,363	H261Q	unknown	Het
Csmd3	A	T	15: 47,857,894	V1551D	probably benign	Het
Ddx60	G	A	8: 62,017,823	V1450M	possibly damaging	Het
Ethe1	A	T	7: 24,595,009	H79L	probably damaging	Het
Fhdc1	G	A	3: 84,444,735	A1061V	possibly damaging	Het
Gm11110	C	T	17: 57,102,087		probably benign	Het
Ifna16	A	T	4: 88,676,645	I71N	probably damaging	Het
Il18bp	A	G	7: 102,016,795	Y59H	possibly damaging	Het
Kcnt1	T	A	2: 25,900,967	I511N	probably damaging	Het
Mlph	A	G	1: 90,942,950	M528V	probably benign	Het
Olfr646	A	G	7: 104,106,633	D118G	probably damaging	Het
Pprc1	T	A	19: 46,062,202	I52N	probably damaging	Het
Rfx1	T	A	8: 84,092,662		probably benign	Het
Rnf17	A	T	14: 56,462,063	I553F	probably benign	Het
Scaper	A	T	9: 55,892,240	H180Q	probably benign	Het
Slc26a4	C	T	12: 31,528,854		probably benign	Het
Slc30a10	A	T	1: 185,464,179	Q346L	possibly damaging	Het
Stambpl1	A	T	19: 34,240,027	H422L	possibly damaging	Het
Trim67	G	A	8: 124,828,121	G701R	probably damaging	Het
Vipr1	T	C	9: 121,664,630	F249S	probably damaging	Het
Vmn2r117	G	T	17: 23,477,241	D397E	probably benign	Het

Other mutations in Hs1bp3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R1745:Hs1bp3	UTSW	12	8321690	nonsense	probably null
R2026:Hs1bp3	UTSW	12	8337738	missense	probably benign
R2183:Hs1bp3	UTSW	12	8321610	missense	possibly damaging	0.81
R4624:Hs1bp3	UTSW	12	8336357	missense	probably benign
R4628:Hs1bp3	UTSW	12	8336357	missense	probably benign
R4672:Hs1bp3	UTSW	12	8341983	nonsense	probably null
R4908:Hs1bp3	UTSW	12	8324007	missense	probably damaging	1.00
R5582:Hs1bp3	UTSW	12	8324048	unclassified	probably benign
R5845:Hs1bp3	UTSW	12	8336275	missense	probably benign	0.25
R5876:Hs1bp3	UTSW	12	8341843	missense	possibly damaging	0.86
R5931:Hs1bp3	UTSW	12	8341915	missense	probably benign	0.03
R7665:Hs1bp3	UTSW	12	8317935	missense	probably damaging	1.00
R8940:Hs1bp3	UTSW	12	8341980	missense	probably benign	0.01
R9348:Hs1bp3	UTSW	12	8336273	missense	probably benign	0.27
R9661:Hs1bp3	UTSW	12	8317940	missense	probably damaging	1.00

Posted On

2014-02-04