Mutagenetix > Incidental Mutation

Incidental Mutation 'R2847:Itgb6'

251656

Institutional Source

Beutler Lab

Gene Symbol

Itgb6

Ensembl Gene

ENSMUSG00000026971

Gene Name

integrin beta 6

Synonyms

4831415H04Rik, 2210409C20Rik

MMRRC Submission

040440-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.730) question?

Stock #

R2847 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

60428636-60552987 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 60430879 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 772 (T772A)

Ref Sequence

ENSEMBL: ENSMUSP00000054944 (fasta)

Gene Model

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

AlphaFold

Q9Z0T9

Predicted Effect

probably damaging
Transcript: ENSMUST00000028348
AA Change: T772A

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

SMART Domains

Protein: ENSMUSP00000028348
Gene: ENSMUSG00000026971
AA Change: T772A

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 damaging
Transcript: ENSMUST00000059888
AA Change: T772A

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

SMART Domains

Protein: ENSMUSP00000054944
Gene: ENSMUSG00000026971
AA Change: T772A

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

SMART Domains

Protein: ENSMUSP00000108136
Gene: ENSMUSG00000026971

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: ENSMUST00000118026

Predicted Effect

probably benign
Transcript: ENSMUST00000154764

SMART Domains

Protein: ENSMUSP00000117815
Gene: ENSMUSG00000026971

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

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.0%

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: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930510E17Rik	T	C	9: 53,176,089 (GRCm39)		noncoding transcript	Het
Abca13	T	C	11: 9,244,584 (GRCm39)	V2149A	possibly damaging	Het
Abca8a	T	C	11: 109,932,931 (GRCm39)	D1231G	probably damaging	Het
Adgrf5	C	A	17: 43,733,531 (GRCm39)	N118K	possibly damaging	Het
Atxn1	A	T	13: 45,720,175 (GRCm39)	D573E	probably damaging	Het
Bub3	C	T	7: 131,172,613 (GRCm39)	T326M	possibly damaging	Het
Cd151	T	C	7: 141,049,463 (GRCm39)	Y57H	probably damaging	Het
Cib4	T	C	5: 30,645,932 (GRCm39)	N112S	probably damaging	Het
Cntnap5c	A	T	17: 58,183,387 (GRCm39)	D31V	probably damaging	Het
Cobl	A	G	11: 12,328,342 (GRCm39)	L81P	probably damaging	Het
Cpsf1	A	T	15: 76,487,051 (GRCm39)	L209Q	probably damaging	Het
Crocc	G	A	4: 140,746,067 (GRCm39)	A1684V	probably damaging	Het
Cyp4f37	T	A	17: 32,848,099 (GRCm39)	C206S	probably damaging	Het
Defb39	C	T	8: 19,102,909 (GRCm39)	R62H	possibly damaging	Het
Dennd2b	T	C	7: 109,124,544 (GRCm39)	Q1099R	probably damaging	Het
Dnah6	T	C	6: 73,106,314 (GRCm39)	K1756E	probably benign	Het
Efcab12	A	G	6: 115,788,072 (GRCm39)	I630T	probably damaging	Het
Erc2	T	C	14: 27,762,445 (GRCm39)	V736A	probably damaging	Het
Fbf1	C	T	11: 116,048,514 (GRCm39)		probably null	Het
Fndc9	C	T	11: 46,128,868 (GRCm39)	A129V	probably damaging	Het
Foxk2	CGGGGGG	CGGGGGGGGG	11: 121,151,317 (GRCm39)		probably benign	Het
Gba2	T	C	4: 43,568,000 (GRCm39)		probably null	Het
Gna12	T	A	5: 140,771,348 (GRCm39)	D61V	probably damaging	Het
Gpr37	C	T	6: 25,666,945 (GRCm39)		probably benign	Het
Grin2a	A	G	16: 9,579,829 (GRCm39)	F145L	possibly damaging	Het
Grin2b	C	A	6: 135,717,951 (GRCm39)	V714L	probably damaging	Het
Grm7	G	T	6: 110,623,309 (GRCm39)	V161F	probably damaging	Het
Hmcn1	G	T	1: 150,439,350 (GRCm39)	Y5494*	probably null	Het
Htr4	T	C	18: 62,561,197 (GRCm39)	S153P	probably damaging	Het
Igkv9-120	T	A	6: 68,027,128 (GRCm39)		probably benign	Het
Mgam	C	A	6: 40,629,649 (GRCm39)	A86E	possibly damaging	Het
Mme	T	A	3: 63,252,620 (GRCm39)	N421K	possibly damaging	Het
Mmp1b	C	T	9: 7,370,763 (GRCm39)	V331I	probably benign	Het
Naa16	A	G	14: 79,573,323 (GRCm39)	C816R	probably damaging	Het
Nav1	G	C	1: 135,378,382 (GRCm39)		probably null	Het
Nln	A	G	13: 104,161,533 (GRCm39)	M679T	probably damaging	Het
Or1n1b	A	G	2: 36,780,536 (GRCm39)	L108P	probably damaging	Het
Or8b53	C	T	9: 38,667,332 (GRCm39)	T116I	possibly damaging	Het
Osbpl8	T	A	10: 111,105,297 (GRCm39)	S251T	probably benign	Het
Otop3	T	C	11: 115,235,384 (GRCm39)	F339L	probably damaging	Het
Pax7	T	C	4: 139,506,954 (GRCm39)	D361G	possibly damaging	Het
Peg10	C	T	6: 4,756,912 (GRCm39)		probably benign	Het
Plekhh2	G	T	17: 84,905,394 (GRCm39)	R1096L	probably damaging	Het
Poteg	A	T	8: 27,971,704 (GRCm39)	N406I	probably benign	Het
Rnf43	T	A	11: 87,623,093 (GRCm39)	N731K	probably benign	Het
Robo4	C	T	9: 37,315,772 (GRCm39)	R342*	probably null	Het
Sec23ip	G	A	7: 128,355,797 (GRCm39)	V307I	probably benign	Het
Slc2a4	T	A	11: 69,836,997 (GRCm39)	N116Y	probably damaging	Het
Tas1r3	T	A	4: 155,944,659 (GRCm39)	Q854L	probably benign	Het
Tox3	G	A	8: 90,975,018 (GRCm39)	Q538*	probably null	Het
Trpm4	A	G	7: 44,960,022 (GRCm39)	F771S	probably damaging	Het
Tstd3	A	T	4: 21,759,375 (GRCm39)	F132L	possibly damaging	Het
Ulk2	T	C	11: 61,715,555 (GRCm39)		probably null	Het
Unc13b	T	C	4: 43,180,404 (GRCm39)	Y3080H	probably benign	Het
Utp25	A	T	1: 192,810,759 (GRCm39)	N81K	probably benign	Het
Vmn1r181	G	T	7: 23,683,943 (GRCm39)	S136I	possibly damaging	Het
Vmn2r114	A	T	17: 23,509,948 (GRCm39)	M844K	probably benign	Het
Vmn2r60	A	T	7: 41,785,857 (GRCm39)	H220L	probably benign	Het
Vps13a	A	G	19: 16,680,963 (GRCm39)	S1078P	probably damaging	Het
Vwa8	G	T	14: 79,184,582 (GRCm39)	R360L	probably benign	Het
Xlr4b	A	T	X: 72,258,938 (GRCm39)	Q25L	probably null	Het
Zdhhc22	T	A	12: 87,035,336 (GRCm39)	T39S	probably benign	Het
Zfp532	T	A	18: 65,789,697 (GRCm39)	H1045Q	possibly damaging	Het
Zfp773	AGCTGCTGCTGCTGCTGCTGCTGCTGC	AGCTGCTGCTGCTGCTGCTGCTGC	7: 7,136,092 (GRCm39)		probably benign	Het
Zfp964	G	C	8: 70,116,504 (GRCm39)	C368S	unknown	Het
Zfp985	G	A	4: 147,667,468 (GRCm39)	W112*	probably null	Het

Other mutations in Itgb6

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00586:Itgb6	APN	2	60,450,696 (GRCm39)	missense	probably benign	0.07
IGL01363:Itgb6	APN	2	60,441,726 (GRCm39)	missense	possibly damaging	0.89
IGL01810:Itgb6	APN	2	60,458,329 (GRCm39)	missense	probably benign	0.19
IGL02026:Itgb6	APN	2	60,458,410 (GRCm39)	missense	possibly damaging	0.79
IGL02347:Itgb6	APN	2	60,441,756 (GRCm39)	missense	probably benign
R0372:Itgb6	UTSW	2	60,458,185 (GRCm39)	missense	probably benign	0.28
R0533:Itgb6	UTSW	2	60,499,541 (GRCm39)	missense	probably benign	0.22
R0542:Itgb6	UTSW	2	60,435,480 (GRCm39)	missense	possibly damaging	0.53
R1037:Itgb6	UTSW	2	60,480,412 (GRCm39)	missense	probably damaging	1.00
R1191:Itgb6	UTSW	2	60,483,481 (GRCm39)	splice site	probably null
R1775:Itgb6	UTSW	2	60,502,988 (GRCm39)	nonsense	probably null
R1802:Itgb6	UTSW	2	60,483,625 (GRCm39)	missense	probably benign	0.22
R1934:Itgb6	UTSW	2	60,499,493 (GRCm39)	missense	probably benign	0.05
R3934:Itgb6	UTSW	2	60,441,755 (GRCm39)	missense	possibly damaging	0.89
R5603:Itgb6	UTSW	2	60,450,706 (GRCm39)	missense	probably benign	0.03
R6255:Itgb6	UTSW	2	60,435,620 (GRCm39)	missense	probably damaging	1.00
R6571:Itgb6	UTSW	2	60,458,800 (GRCm39)	missense	probably damaging	1.00
R6908:Itgb6	UTSW	2	60,480,365 (GRCm39)	missense	probably benign	0.02
R7010:Itgb6	UTSW	2	60,480,322 (GRCm39)	missense	probably damaging	1.00
R7212:Itgb6	UTSW	2	60,464,998 (GRCm39)	missense	probably damaging	0.99
R7259:Itgb6	UTSW	2	60,480,355 (GRCm39)	missense	probably damaging	1.00
R7300:Itgb6	UTSW	2	60,435,650 (GRCm39)	missense	probably benign	0.04
R7491:Itgb6	UTSW	2	60,450,720 (GRCm39)	missense	probably damaging	1.00
R7532:Itgb6	UTSW	2	60,499,557 (GRCm39)	missense	probably benign
R7861:Itgb6	UTSW	2	60,458,788 (GRCm39)	missense	probably damaging	1.00
R8086:Itgb6	UTSW	2	60,480,376 (GRCm39)	missense	probably damaging	0.98
R8795:Itgb6	UTSW	2	60,483,629 (GRCm39)	missense	probably damaging	1.00
R8886:Itgb6	UTSW	2	60,458,324 (GRCm39)	nonsense	probably null
R8933:Itgb6	UTSW	2	60,458,247 (GRCm39)	missense	probably damaging	1.00
R9015:Itgb6	UTSW	2	60,485,032 (GRCm39)	missense	probably damaging	1.00
R9450:Itgb6	UTSW	2	60,458,372 (GRCm39)	missense	probably benign
X0018:Itgb6	UTSW	2	60,503,010 (GRCm39)	missense	possibly damaging	0.88
Z1088:Itgb6	UTSW	2	60,450,555 (GRCm39)	missense	probably null	1.00
Z1176:Itgb6	UTSW	2	60,441,812 (GRCm39)	missense	possibly damaging	0.94

Predicted Primers

PCR Primer
(F):5'- TGTTTCCAATCAGCGAACAATGTC -3'
(R):5'- TAGCTTCCAAGATAGAGCTTTGC -3'

Sequencing Primer
(F):5'- TCATGCCCTGAATGACTGG -3'
(R):5'- GCTCTCCCATTTGAACTATAACAC -3'

Posted On

2014-12-04