Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL00586:Itgb6'

7190

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Itgb6

Ensembl Gene

ENSMUSG00000026971

Gene Name

integrin beta 6

Synonyms

4831415H04Rik, 2210409C20Rik

Accession Numbers

Is this an essential gene?

Probably essential (E-score: 0.947) question?

Stock #

IGL00586

Quality Score

Status

Chromosome

Chromosomal Location

60598292-60722643 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 60620352 bp

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Alanine at position 581 (D581A)

Ref Sequence

ENSEMBL: ENSMUSP00000117815 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000028348] [ENSMUST00000059888] [ENSMUST00000112517] [ENSMUST00000154764]

Predicted Effect

probably benign
Transcript: ENSMUST00000028348
AA Change: D581A

PolyPhen 2 Score 0.072 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000028348
Gene: ENSMUSG00000026971
AA Change: D581A

Domain	Start	End	E-Value	Type
signal peptide	1	21	N/A	INTRINSIC
PSI	22	71	2.19e-9	SMART
INB	30	454	1.84e-277	SMART
VWA	132	365	1.11e-1	SMART
internal_repeat_1	484	538	1.59e-8	PROSPERO
EGF_like	543	575	6.15e1	SMART
Integrin_B_tail	624	706	1.07e-19	SMART
Integrin_b_cyt	730	776	7.82e-22	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000059888
AA Change: D581A

PolyPhen 2 Score 0.072 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000054944
Gene: ENSMUSG00000026971
AA Change: D581A

Domain	Start	End	E-Value	Type
signal peptide	1	21	N/A	INTRINSIC
PSI	22	71	2.19e-9	SMART
INB	30	454	1.84e-277	SMART
VWA	132	365	1.11e-1	SMART
internal_repeat_1	484	538	1.59e-8	PROSPERO
EGF_like	543	575	6.15e1	SMART
Integrin_B_tail	624	706	1.07e-19	SMART
Integrin_b_cyt	730	776	7.82e-22	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000112517
AA Change: D581A

PolyPhen 2 Score 0.072 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000108136
Gene: ENSMUSG00000026971
AA Change: D581A

Domain	Start	End	E-Value	Type
signal peptide	1	21	N/A	INTRINSIC
PSI	22	71	2.19e-9	SMART
INB	30	454	1.84e-277	SMART
VWA	132	365	1.11e-1	SMART
internal_repeat_1	484	538	1.81e-8	PROSPERO
EGF_like	543	575	6.15e1	SMART
Integrin_B_tail	624	706	1.07e-19	SMART
Integrin_b_cyt	730	759	2.38e-3	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000154764
AA Change: D581A

PolyPhen 2 Score 0.072 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000117815
Gene: ENSMUSG00000026971
AA Change: D581A

Domain	Start	End	E-Value	Type
signal peptide	1	21	N/A	INTRINSIC
PSI	22	71	2.19e-9	SMART
INB	30	454	1.84e-277	SMART
VWA	132	365	1.11e-1	SMART
internal_repeat_1	484	538	1.62e-8	PROSPERO
EGF_like	543	575	6.15e1	SMART
Integrin_B_tail	624	706	1.07e-19	SMART
Integrin_b_cyt	730	755	2.3e0	SMART

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein that is a member of the integrin superfamily. Members of this family are adhesion receptors that function in signaling from the extracellular matrix to the cell. Integrins are heterodimeric integral membrane proteins composed of an alpha chain and a beta chain. The encoded protein forms a dimer with an alpha v chain and this heterodimer can bind to ligands like fibronectin and transforming growth factor beta 1. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Sep 2013]
PHENOTYPE: Homozygotes for a targeted null mutation exhibit baldness associated with macrophage infiltration of skin, exaggerated pulmonary inflammation, and an impaired mucosal mast cell response to nematode infection. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 28 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Arl5b	T	C	2: 15,069,935	S76P	probably benign	Het
Asap3	A	C	4: 136,206,568	D17A	probably damaging	Het
Casc1	A	T	6: 145,191,576	F269I	possibly damaging	Het
Ccdc24	C	T	4: 117,872,046	R78H	probably damaging	Het
Crp	T	C	1: 172,699,001	F218L	probably benign	Het
Dab2	T	C	15: 6,429,825	L385P	probably benign	Het
Dip2c	C	A	13: 9,610,755	T855N	probably damaging	Het
Ep400	A	G	5: 110,739,594	V541A	probably damaging	Het
Gbgt1	A	T	2: 28,502,195		probably null	Het
Gm5771	T	C	6: 41,396,115	I107T	probably damaging	Het
Gm6871	A	T	7: 41,546,421	D297E	possibly damaging	Het
Gpr107	T	A	2: 31,171,994	F145I	probably benign	Het
Lce1a1	C	T	3: 92,647,163	M1I	probably null	Het
Lmbrd2	G	A	15: 9,157,295	V207M	probably damaging	Het
Muc5b	T	A	7: 141,841,392	V45E	unknown	Het
Mybpc2	A	G	7: 44,505,382	V977A	probably damaging	Het
Oas1c	T	C	5: 120,808,679	T29A	probably benign	Het
Pdzd2	G	T	15: 12,365,767		probably null	Het
Plk2	T	C	13: 110,396,378	Y158H	possibly damaging	Het
Ptprq	A	G	10: 107,608,122		probably benign	Het
Rnf17	C	T	14: 56,421,082	T76I	probably damaging	Het
Serpinb1c	T	C	13: 32,883,975	K213E	probably damaging	Het
Sidt2	A	G	9: 45,943,052	V624A	possibly damaging	Het
Sin3b	T	C	8: 72,757,000	V1005A	probably benign	Het
Ubr4	T	C	4: 139,455,184	V358A	possibly damaging	Het
Wdr60	A	T	12: 116,241,780	D396E	probably benign	Het
Zfp120	T	C	2: 150,119,828	I67V	possibly damaging	Het
Zfp942	A	T	17: 21,928,624	H341Q	probably damaging	Het

Other mutations in Itgb6

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01363:Itgb6	APN	2	60611382	missense	possibly damaging	0.89
IGL01810:Itgb6	APN	2	60627985	missense	probably benign	0.19
IGL02026:Itgb6	APN	2	60628066	missense	possibly damaging	0.79
IGL02347:Itgb6	APN	2	60611412	missense	probably benign
R0372:Itgb6	UTSW	2	60627841	missense	probably benign	0.28
R0533:Itgb6	UTSW	2	60669197	missense	probably benign	0.22
R0542:Itgb6	UTSW	2	60605136	missense	possibly damaging	0.53
R1037:Itgb6	UTSW	2	60650068	missense	probably damaging	1.00
R1191:Itgb6	UTSW	2	60653137	splice site	probably null
R1775:Itgb6	UTSW	2	60672644	nonsense	probably null
R1802:Itgb6	UTSW	2	60653281	missense	probably benign	0.22
R1934:Itgb6	UTSW	2	60669149	missense	probably benign	0.05
R2847:Itgb6	UTSW	2	60600535	missense	probably damaging	1.00
R3934:Itgb6	UTSW	2	60611411	missense	possibly damaging	0.89
R5603:Itgb6	UTSW	2	60620362	missense	probably benign	0.03
R6255:Itgb6	UTSW	2	60605276	missense	probably damaging	1.00
R6571:Itgb6	UTSW	2	60628456	missense	probably damaging	1.00
R6908:Itgb6	UTSW	2	60650021	missense	probably benign	0.02
R7010:Itgb6	UTSW	2	60649978	missense	probably damaging	1.00
R7212:Itgb6	UTSW	2	60634654	missense	probably damaging	0.99
R7259:Itgb6	UTSW	2	60650011	missense	probably damaging	1.00
R7300:Itgb6	UTSW	2	60605306	missense	probably benign	0.04
R7491:Itgb6	UTSW	2	60620376	missense	probably damaging	1.00
R7532:Itgb6	UTSW	2	60669213	missense	probably benign
R7861:Itgb6	UTSW	2	60628444	missense	probably damaging	1.00
R8086:Itgb6	UTSW	2	60650032	missense	probably damaging	0.98
X0018:Itgb6	UTSW	2	60672666	missense	possibly damaging	0.88
Z1088:Itgb6	UTSW	2	60620211	missense	probably null	1.00
Z1176:Itgb6	UTSW	2	60611468	missense	possibly damaging	0.94

Posted On

2012-04-20