Mutagenetix > Incidental Mutation

Incidental Mutation 'R0533:Itgb6'

49302

Institutional Source

Beutler Lab

Gene Symbol

Itgb6

Ensembl Gene

ENSMUSG00000026971

Gene Name

integrin beta 6

Synonyms

4831415H04Rik, 2210409C20Rik

MMRRC Submission

038725-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.702) question?

Stock #

R0533 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

60598292-60722643 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 60669197 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 84 (V84A)

Ref Sequence

ENSEMBL: ENSMUSP00000108136 (fasta)

Gene Model

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

AlphaFold

Q9Z0T9

Predicted Effect

probably benign
Transcript: ENSMUST00000028348
AA Change: V84A

PolyPhen 2 Score 0.074 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000028348
Gene: ENSMUSG00000026971
AA Change: V84A

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: V84A

PolyPhen 2 Score 0.074 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000054944
Gene: ENSMUSG00000026971
AA Change: V84A

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: V84A

PolyPhen 2 Score 0.224 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000108136
Gene: ENSMUSG00000026971
AA Change: V84A

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

noncoding transcript
Transcript: ENSMUST00000133887

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000145009

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000151035

Predicted Effect

probably benign
Transcript: ENSMUST00000154764
AA Change: V84A

PolyPhen 2 Score 0.036 (Sensitivity: 0.94; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000117815
Gene: ENSMUSG00000026971
AA Change: V84A

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

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.1%
3x: 98.2%
10x: 96.0%
20x: 91.5%

Validation Efficiency

100% (57/57)

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: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aadat	T	G	8: 60,531,763		probably benign	Het
Abcb1b	A	T	5: 8,864,113		probably null	Het
Adcy10	A	G	1: 165,564,023	N1283S	probably benign	Het
Adgrb1	T	A	15: 74,541,559	W531R	probably damaging	Het
Ago4	A	G	4: 126,516,860	V246A	probably benign	Het
Arid5b	A	T	10: 68,186,033	D242E	probably damaging	Het
Arpp21	A	G	9: 112,126,505	V522A	probably benign	Het
Atg4b	T	A	1: 93,784,910		probably benign	Het
Capn12	T	C	7: 28,887,683	F359S	possibly damaging	Het
Ccdc88c	A	T	12: 100,954,282	I360N	probably damaging	Het
Clic3	A	G	2: 25,458,138	Y99C	probably damaging	Het
Cux1	T	C	5: 136,307,859	E925G	probably damaging	Het
Dnah10	G	A	5: 124,775,250		probably null	Het
Dnah17	A	G	11: 118,110,537	V860A	possibly damaging	Het
Etv5	C	T	16: 22,436,075		probably benign	Het
Fam83a	T	A	15: 58,009,811	N345K	probably benign	Het
G3bp1	T	C	11: 55,498,626	F383L	probably damaging	Het
Gm13089	G	T	4: 143,698,020	C284*	probably null	Het
Gpm6a	A	G	8: 55,055,374		probably null	Het
Grid1	T	A	14: 35,309,385	Y312N	possibly damaging	Het
Gstm4	T	C	3: 108,043,525	N51S	probably benign	Het
Hid1	A	T	11: 115,348,809	I765N	probably damaging	Het
Hmmr	A	G	11: 40,709,989	V518A	unknown	Het
Kbtbd4	A	G	2: 90,907,604	K233E	probably benign	Het
Kif15	A	T	9: 123,009,433		probably benign	Het
Klre1	T	C	6: 129,583,193	S143P	probably damaging	Het
Krt81	T	C	15: 101,461,389	D216G	probably benign	Het
Mctp2	G	T	7: 72,080,822	H868Q	probably benign	Het
Morc2b	G	C	17: 33,135,932	Y955*	probably null	Het
Myog	A	C	1: 134,290,473	N140H	possibly damaging	Het
Myrf	G	C	19: 10,218,162	T428S	probably benign	Het
Naip2	A	C	13: 100,161,782	I582S	probably benign	Het
Neil3	A	T	8: 53,638,775		probably null	Het
Nrg1	T	C	8: 31,831,245		probably null	Het
Olfr681	G	A	7: 105,122,350	V298I	probably benign	Het
Olfr689	A	T	7: 105,314,372	M123L	probably benign	Het
Olfr99	A	T	17: 37,280,291	L43*	probably null	Het
Pramef25	A	T	4: 143,950,720	D96E	possibly damaging	Het
Ptger2	T	A	14: 44,988,982	N6K	possibly damaging	Het
Ryr1	T	A	7: 29,078,780	E2097V	probably damaging	Het
Sel1l	A	T	12: 91,820,094	F397Y	probably damaging	Het
Skint5	A	G	4: 113,827,867	V551A	unknown	Het
Slc39a12	A	G	2: 14,400,331	T245A	probably benign	Het
Syne1	C	T	10: 5,358,438	V706I	probably benign	Het
Tbc1d8	G	T	1: 39,372,774	Q994K	possibly damaging	Het
Tnrc6b	C	T	15: 80,876,653	T187I	probably benign	Het
Ttll6	G	A	11: 96,154,756	A600T	probably benign	Het
Ust	T	C	10: 8,248,080		probably benign	Het
Vmn2r71	GT	GTT	7: 85,619,218		probably null	Het
Vstm2a	C	T	11: 16,263,041	A142V	probably damaging	Het
Wfs1	T	A	5: 36,973,722		probably benign	Het
Wrap73	G	A	4: 154,151,649	G145D	probably damaging	Het
Wrap73	G	A	4: 154,156,154	V368M	possibly damaging	Het
Xrra1	T	A	7: 99,875,145		probably null	Het
Zfhx2	C	T	14: 55,064,090	V2146I	probably benign	Het
Zfp335	A	T	2: 164,907,922	L185*	probably null	Het

Other mutations in Itgb6

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00586:Itgb6	APN	2	60620352	missense	probably benign	0.07
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
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
R8795:Itgb6	UTSW	2	60653285	missense	probably damaging	1.00
R8886:Itgb6	UTSW	2	60627980	nonsense	probably null
R8933:Itgb6	UTSW	2	60627903	missense	probably damaging	1.00
R9015:Itgb6	UTSW	2	60654688	missense	probably damaging	1.00
R9450:Itgb6	UTSW	2	60628028	missense	probably benign
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

Predicted Primers

PCR Primer
(F):5'- CCAATAACCAATGATGGGCGATGGG -3'
(R):5'- TCAATCACCACCAGTCGTGTAGGG -3'

Sequencing Primer
(F):5'- GGGTGCCAGAGGGATTATC -3'
(R):5'- GTCTGGAATCTTACAAAGAGATGC -3'

Posted On

2013-06-12