Mutagenetix > Incidental Mutation

Incidental Mutation 'R7491:Itgb6'

580726

Institutional Source

Beutler Lab

Gene Symbol

Itgb6

Ensembl Gene

ENSMUSG00000026971

Gene Name

integrin beta 6

Synonyms

4831415H04Rik, 2210409C20Rik

MMRRC Submission

045565-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.728) question?

Stock #

R7491 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

60428636-60552987 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 60450720 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 573 (Y573C)

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: Y573C

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000028348
Gene: ENSMUSG00000026971
AA Change: Y573C

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: Y573C

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000054944
Gene: ENSMUSG00000026971
AA Change: Y573C

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: Y573C

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000108136
Gene: ENSMUSG00000026971
AA Change: Y573C

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: Y573C

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000117815
Gene: ENSMUSG00000026971
AA Change: Y573C

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: 98.9%

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: 90 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933409G03Rik	G	T	2: 68,445,099 (GRCm39)		probably null	Het
5730522E02Rik	A	T	11: 25,719,014 (GRCm39)	V44E	unknown	Het
Adcy9	A	G	16: 4,236,673 (GRCm39)	L246S	possibly damaging	Het
Adk	C	T	14: 21,284,997 (GRCm39)	H123Y	probably damaging	Het
Adra1b	T	A	11: 43,726,794 (GRCm39)	D41V	probably benign	Het
Ankib1	T	G	5: 3,751,911 (GRCm39)	K710Q	probably damaging	Het
Aoc2	T	A	11: 101,219,203 (GRCm39)	V542D	probably benign	Het
Arhgef28	T	C	13: 98,081,194 (GRCm39)	N1221S	probably benign	Het
BC028528	CTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTT	CTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTT	3: 95,795,448 (GRCm39)		probably benign	Het
BC028528	CACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTTCTGTGGT	CACTGGTTCTGTGGTTACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTTCTGTGGT	3: 95,795,450 (GRCm39)		probably benign	Het
Bmal1	T	C	7: 112,898,631 (GRCm39)	V353A	probably benign	Het
Cacna1a	C	A	8: 85,285,922 (GRCm39)	R856S	possibly damaging	Het
Cacna1c	T	C	6: 118,590,304 (GRCm39)	M1559V		Het
Cdh10	G	C	15: 19,013,445 (GRCm39)	E682Q	probably damaging	Het
Celsr1	T	C	15: 85,916,719 (GRCm39)	D418G	possibly damaging	Het
Cfap44	T	C	16: 44,291,111 (GRCm39)	L1537P	probably damaging	Het
Clca3a2	A	G	3: 144,519,340 (GRCm39)	S279P	probably damaging	Het
Col2a1	C	T	15: 97,874,040 (GRCm39)	V1449I	not run	Het
Cpt2	A	G	4: 107,764,339 (GRCm39)	F475S	probably damaging	Het
Cpxm1	T	C	2: 130,235,487 (GRCm39)	T502A	probably benign	Het
Creb3l2	G	T	6: 37,356,794 (GRCm39)	T91N	probably benign	Het
D630045J12Rik	A	T	6: 38,119,601 (GRCm39)	S1714T	possibly damaging	Het
Dennd1c	C	A	17: 57,379,379 (GRCm39)	V246F	probably damaging	Het
Dse	A	G	10: 34,028,561 (GRCm39)	V843A	probably benign	Het
Ern2	C	A	7: 121,769,756 (GRCm39)	W810L	probably damaging	Het
Fer1l6	G	A	15: 58,472,281 (GRCm39)	D906N	probably damaging	Het
Fry	A	G	5: 150,389,791 (GRCm39)	E140G		Het
Galnt7	A	G	8: 58,005,552 (GRCm39)	V227A	probably damaging	Het
Gas2l3	A	G	10: 89,249,763 (GRCm39)	S452P	probably benign	Het
Gm40460	ACCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAG	ACCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAG	7: 141,794,450 (GRCm39)		probably benign	Het
Gm826	A	T	2: 160,153,942 (GRCm39)	S34T	unknown	Het
Gzmk	A	T	13: 113,308,535 (GRCm39)	I222N	probably benign	Het
Hivep3	A	T	4: 119,956,027 (GRCm39)	T1448S	probably benign	Het
Hk1	T	C	10: 62,131,524 (GRCm39)	D278G	probably damaging	Het
Ipo7	C	A	7: 109,638,401 (GRCm39)	Q223K	possibly damaging	Het
Itga9	T	A	9: 118,598,179 (GRCm39)	I571N	probably damaging	Het
Kmt2c	T	A	5: 25,489,562 (GRCm39)	H4459L	probably damaging	Het
Limch1	T	G	5: 67,211,580 (GRCm39)	S894R	probably damaging	Het
Lrit2	A	T	14: 36,790,867 (GRCm39)	Q182L	possibly damaging	Het
Mlph	A	T	1: 90,867,100 (GRCm39)	H374L	possibly damaging	Het
Mmrn2	A	G	14: 34,121,374 (GRCm39)	H748R	probably damaging	Het
Mrpl58	T	C	11: 115,301,092 (GRCm39)	V134A	possibly damaging	Het
Nae1	A	T	8: 105,244,871 (GRCm39)	D353E	probably benign	Het
Naip5	A	C	13: 100,353,579 (GRCm39)	F1227V	probably benign	Het
Nln	A	T	13: 104,205,831 (GRCm39)	F108I	probably damaging	Het
Nop16	C	T	13: 54,736,417 (GRCm39)	V94I	probably benign	Het
Nt5c1b	A	T	12: 10,424,903 (GRCm39)	T150S	probably benign	Het
Or10d4b	T	G	9: 39,535,268 (GRCm39)	I281S	possibly damaging	Het
Pcdha4	T	C	18: 37,087,689 (GRCm39)	V624A	probably damaging	Het
Pcdhga8	T	C	18: 37,860,483 (GRCm39)	I513T	probably benign	Het
Prc1	A	T	7: 79,959,239 (GRCm39)		probably null	Het
Prpf4	T	A	4: 62,336,113 (GRCm39)	F280Y	probably damaging	Het
Ptprd	T	C	4: 76,051,392 (GRCm39)	E43G	probably benign	Het
Pum1	T	A	4: 130,446,485 (GRCm39)	D181E	probably benign	Het
Rab7	A	G	6: 87,990,624 (GRCm39)	S17P	probably damaging	Het
Rgs1	T	C	1: 144,121,134 (GRCm39)	Y179C	probably damaging	Het
Rrm1	T	C	7: 102,103,764 (GRCm39)	C238R	probably damaging	Het
Rusc2	T	A	4: 43,426,528 (GRCm39)	L1484Q	probably damaging	Het
Sall3	C	T	18: 81,015,920 (GRCm39)	M669I	probably benign	Het
Saxo1	A	C	4: 86,363,644 (GRCm39)	F280V	probably benign	Het
Scn2a	T	C	2: 65,532,352 (GRCm39)	S655P	probably damaging	Het
Senp6	G	T	9: 80,031,010 (GRCm39)	E571*	probably null	Het
Sin3b	C	G	8: 73,473,069 (GRCm39)	T463S	probably damaging	Het
Sirt7	C	A	11: 120,509,837 (GRCm39)	R349L	probably benign	Het
Skor1	T	C	9: 63,053,730 (GRCm39)	T80A	probably damaging	Het
Slc12a9	C	A	5: 137,321,082 (GRCm39)	A478S	probably damaging	Het
Slc25a23	T	A	17: 57,359,822 (GRCm39)	R310*	probably null	Het
Slco6c1	A	T	1: 97,055,579 (GRCm39)	H107Q	probably benign	Het
Slit2	A	G	5: 48,377,336 (GRCm39)	E455G	probably benign	Het
Smo	G	C	6: 29,736,119 (GRCm39)	G37A	probably damaging	Het
St6galnac1	T	C	11: 116,660,010 (GRCm39)	K101R	probably benign	Het
Stat1	C	A	1: 52,191,530 (GRCm39)	N628K	probably benign	Het
Syn2	A	T	6: 115,231,615 (GRCm39)	Y302F	probably benign	Het
Tapt1	T	G	5: 44,345,978 (GRCm39)	Q324P	probably damaging	Het
Tgoln1	C	T	6: 72,593,403 (GRCm39)	A26T	unknown	Het
Timm13	T	A	10: 80,736,378 (GRCm39)	T43S	probably benign	Het
Tnfrsf19	G	A	14: 61,242,654 (GRCm39)	P77S	possibly damaging	Het
Trem3	T	G	17: 48,564,969 (GRCm39)	F157V	probably benign	Het
Trgv3	T	A	13: 19,427,016 (GRCm39)	M1K	probably null	Het
Trim33	T	A	3: 103,233,464 (GRCm39)	S420T	probably benign	Het
Trip11	T	C	12: 101,851,694 (GRCm39)	K790R	probably damaging	Het
Trnt1	A	G	6: 106,755,865 (GRCm39)	T307A	probably benign	Het
Tshz1	T	C	18: 84,033,766 (GRCm39)	Y214C	probably damaging	Het
Vmn2r105	T	A	17: 20,448,827 (GRCm39)	T117S	probably benign	Het
Vmn2r45	A	G	7: 8,484,342 (GRCm39)	Y488H	probably benign	Het
Vwa8	A	T	14: 79,320,254 (GRCm39)	K1088N	probably benign	Het
Wdr35	T	C	12: 9,036,000 (GRCm39)	V257A	probably benign	Het
Zfp189	T	A	4: 49,521,569 (GRCm39)	S3T	probably benign	Het
Zscan22	G	A	7: 12,640,833 (GRCm39)	C359Y	probably damaging	Het
Zscan4-ps2	A	T	7: 11,251,812 (GRCm39)	R283*	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
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
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
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'- TTACCGTTTAGAGTTACAGGGG -3'
(R):5'- TTAGTAAATACACAGGGCAAGCAAC -3'

Sequencing Primer
(F):5'- TTAGAGTTACAGGGGTCGCCAC -3'
(R):5'- GGGCAAGCAACACTGACC -3'

Posted On

2019-10-17