Mutagenetix > Incidental Mutation

Incidental Mutation 'R7259:Itgb6'

564456

Institutional Source

Beutler Lab

Gene Symbol

Itgb6

Ensembl Gene

ENSMUSG00000026971

Gene Name

integrin beta 6

Synonyms

4831415H04Rik, 2210409C20Rik

MMRRC Submission

045351-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.730) question?

Stock #

R7259 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

60428636-60552987 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 60480355 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Asparagine at position 327 (I327N)

Ref Sequence

ENSEMBL: ENSMUSP00000028348 (fasta)

Gene Model

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

AlphaFold

Q9Z0T9

Predicted Effect

probably damaging
Transcript: ENSMUST00000028348
AA Change: I327N

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

SMART Domains

Protein: ENSMUSP00000028348
Gene: ENSMUSG00000026971
AA Change: I327N

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: I327N

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

SMART Domains

Protein: ENSMUSP00000054944
Gene: ENSMUSG00000026971
AA Change: I327N

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: ENSMUST00000112517
AA Change: I327N

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

SMART Domains

Protein: ENSMUSP00000108136
Gene: ENSMUSG00000026971
AA Change: I327N

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 damaging
Transcript: ENSMUST00000154764
AA Change: I327N

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

SMART Domains

Protein: ENSMUSP00000117815
Gene: ENSMUSG00000026971
AA Change: I327N

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: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

Validation Efficiency

100% (64/64)

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: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adarb2	A	G	13: 8,620,288 (GRCm39)	Y258C	probably benign	Het
Aebp2	A	G	6: 140,579,494 (GRCm39)	S244G	probably benign	Het
Agl	A	T	3: 116,578,230 (GRCm39)	Y495N	probably damaging	Het
Arhgap33	A	G	7: 30,231,625 (GRCm39)	V120A	probably damaging	Het
Asb14	C	T	14: 26,625,412 (GRCm39)	H256Y	probably benign	Het
Atp2a2	A	G	5: 122,604,132 (GRCm39)	Y434H	probably benign	Het
Atrnl1	C	T	19: 57,924,038 (GRCm39)	R1268*	probably null	Het
AW554918	A	G	18: 25,422,906 (GRCm39)		probably null	Het
Canx	A	G	11: 50,192,643 (GRCm39)	W324R	probably damaging	Het
Col9a1	A	G	1: 24,224,424 (GRCm39)	E202G	unknown	Het
Crh	C	A	3: 19,748,418 (GRCm39)	A75S	possibly damaging	Het
Ctnnal1	T	A	4: 56,817,299 (GRCm39)		probably null	Het
Dmrta2	T	A	4: 109,839,104 (GRCm39)	S284T	possibly damaging	Het
Dock1	T	C	7: 134,384,477 (GRCm39)	V680A	probably damaging	Het
Duox2	G	A	2: 122,125,657 (GRCm39)	R317C	probably damaging	Het
Elmod2	A	G	8: 84,048,138 (GRCm39)	L108P	probably damaging	Het
Exoc6b	A	G	6: 84,825,792 (GRCm39)	S540P	probably benign	Het
Fsip2	C	T	2: 82,812,474 (GRCm39)	A2931V	possibly damaging	Het
Gipc2	A	T	3: 151,833,693 (GRCm39)	I196K	probably damaging	Het
Gli2	A	G	1: 118,764,264 (GRCm39)	S1296P	probably benign	Het
Gm21103	T	A	14: 17,482,882 (GRCm39)	Q173L	probably damaging	Het
Gpatch1	A	T	7: 34,986,546 (GRCm39)		probably null	Het
Grm8	G	A	6: 27,760,175 (GRCm39)	T385I	probably null	Het
Gtf2f1	C	A	17: 57,311,562 (GRCm39)	D283Y	probably damaging	Het
Hcar1	T	A	5: 124,017,275 (GRCm39)	T139S	possibly damaging	Het
Hcrtr1	T	A	4: 130,029,611 (GRCm39)	T157S	possibly damaging	Het
Htra2	T	G	6: 83,028,520 (GRCm39)	Q436P	possibly damaging	Het
Igkv1-133	A	G	6: 67,702,522 (GRCm39)	D80G	probably benign	Het
Il21	C	A	3: 37,281,803 (GRCm39)		probably null	Het
Inpp5f	T	A	7: 128,271,681 (GRCm39)	C359S	probably benign	Het
Itgbl1	A	T	14: 124,081,316 (GRCm39)	T232S	probably damaging	Het
Kif1a	T	A	1: 93,001,532 (GRCm39)	K266*	probably null	Het
Mcm10	C	A	2: 5,011,328 (GRCm39)	E214D	probably benign	Het
Mefv	T	A	16: 3,530,917 (GRCm39)	I522F	probably damaging	Het
Naaladl2	T	A	3: 24,112,340 (GRCm39)	I581F	possibly damaging	Het
Naip6	A	T	13: 100,440,863 (GRCm39)	Y306N	probably damaging	Het
Opn1sw	T	A	6: 29,378,911 (GRCm39)	H247L	probably benign	Het
Or4c119	A	C	2: 88,986,854 (GRCm39)	F222V	probably benign	Het
Or51v15-ps1	A	T	7: 103,278,966 (GRCm39)	M67K	probably damaging	Het
Or5k1b	T	C	16: 58,580,868 (GRCm39)	T224A	possibly damaging	Het
Or6c68	T	A	10: 129,157,663 (GRCm39)	M57K	probably benign	Het
Pbxip1	C	A	3: 89,352,940 (GRCm39)	F195L	probably benign	Het
Pcdh12	A	T	18: 38,414,677 (GRCm39)	F816Y	probably benign	Het
Pi4k2b	C	A	5: 52,910,587 (GRCm39)	N290K	probably damaging	Het
Pias2	T	C	18: 77,240,416 (GRCm39)	S598P	possibly damaging	Het
Ppfia4	A	G	1: 134,240,838 (GRCm39)	V835A	probably damaging	Het
Ptch1	T	C	13: 63,721,108 (GRCm39)	K54E	not run	Het
Rnf213	A	G	11: 119,343,401 (GRCm39)	I3589V		Het
Scg2	T	C	1: 79,414,702 (GRCm39)	Y7C	probably benign	Het
Sec16a	A	G	2: 26,331,604 (GRCm39)	V137A	probably benign	Het
Setdb1	G	A	3: 95,247,224 (GRCm39)	T525I	probably benign	Het
Sgcg	A	T	14: 61,462,666 (GRCm39)	I227N	probably benign	Het
Slc35e4	A	T	11: 3,862,530 (GRCm39)		probably null	Het
Smarca2	C	T	19: 26,631,864 (GRCm39)	Q560*	probably null	Het
Stk10	A	G	11: 32,548,497 (GRCm39)	N355S	probably benign	Het
Supt6	A	T	11: 78,098,442 (GRCm39)	D1716E	probably damaging	Het
Taok3	C	T	5: 117,390,608 (GRCm39)	A523V	probably benign	Het
Tekt3	A	G	11: 62,974,592 (GRCm39)	T304A	possibly damaging	Het
Ttc6	G	T	12: 57,622,970 (GRCm39)	R123L	probably benign	Het
Tyw1	T	A	5: 130,296,713 (GRCm39)		probably null	Het
Ulk2	A	G	11: 61,672,909 (GRCm39)	L895P	probably damaging	Het
Unc13c	A	T	9: 73,424,645 (GRCm39)	N1990K	probably benign	Het
Vmn2r111	T	C	17: 22,778,032 (GRCm39)	N549S	possibly damaging	Het
Wipf1	A	G	2: 73,265,425 (GRCm39)	S393P	probably damaging	Het
Yju2b	T	C	8: 84,986,946 (GRCm39)	S184G	probably damaging	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
R2847:Itgb6	UTSW	2	60,430,879 (GRCm39)	missense	probably damaging	1.00
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
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'- TTAATGCCAGTGGATGACCC -3'
(R):5'- GGGACCATTCCTGAGATAAGTG -3'

Sequencing Primer
(F):5'- AGTGGATGACCCCCAGC -3'
(R):5'- GACCATTCCTGAGATAAGTGAATAAC -3'

Posted On

2019-06-26