Mutagenetix > Incidental Mutation

Incidental Mutation 'R9450:Itgb6'

714170

Institutional Source

Beutler Lab

Gene Symbol

Itgb6

Ensembl Gene

ENSMUSG00000026971

Gene Name

integrin beta 6

Synonyms

4831415H04Rik, 2210409C20Rik

MMRRC Submission

Accession Numbers

Essential gene?

Probably essential (E-score: 0.751) question?

Stock #

R9450 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

60598292-60722643 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 60628028 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Methionine at position 460 (I460M)

Ref Sequence

ENSEMBL: ENSMUSP00000028348 (fasta)

Gene Model

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

AlphaFold

Q9Z0T9

Predicted Effect

probably benign
Transcript: ENSMUST00000028348
AA Change: I460M

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000028348
Gene: ENSMUSG00000026971
AA Change: I460M

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: I460M

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000054944
Gene: ENSMUSG00000026971
AA Change: I460M

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: I460M

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000108136
Gene: ENSMUSG00000026971
AA Change: I460M

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: I460M

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000117815
Gene: ENSMUSG00000026971
AA Change: I460M

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: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700007K13Rik	TCTCTGGGGCAGGCTTAGCCTTGGGCTCCCCCGGCTCCGGCTCCTCTGGGGCAGGCTTAGCCTTGGGCTCCCCCGGCTCCGGCTCCTCTGGGGCGGGCTTAGCCTTGGGCTCCCCCGGCTCCGGCTCCTC	TCTCTGGGGCAGGCTTAGCCTTGGGCTCCCCCGGCTCCGGCTCCTCTGGGGCGGGCTTAGCCTTGGGCTCCCCCGGCTCCGGCTCCTC	2: 28,466,110 (GRCm38)		probably benign	Het
2200002D01Rik	CCTTCTCCTTCTTCTCCTTCTTCTCCTTCTTCTCCATCTTCTCCTTCTTC	CCTTCTCCTTCTTCTCCTTCTTCTCCATCTTCTCCTTCTTC	7: 29,247,623 (GRCm38)		probably benign	Het
2810004N23Rik	T	C	8: 124,840,476 (GRCm38)	K229E	probably damaging	Het
4931409K22Rik	T	A	5: 24,549,449 (GRCm38)	I395F	probably benign	Het
9030624J02Rik	T	C	7: 118,752,895 (GRCm38)		probably null	Het
Abca8b	T	C	11: 109,969,104 (GRCm38)	T523A	probably damaging	Het
Adamts18	G	T	8: 113,764,310 (GRCm38)	D508E	probably benign	Het
Arap2	T	C	5: 62,698,419 (GRCm38)	E558G	probably benign	Het
Arid4a	A	T	12: 71,072,600 (GRCm38)	D331V		Het
Ash1l	A	T	3: 89,007,832 (GRCm38)	K1923M	possibly damaging	Het
Atad2b	T	A	12: 5,013,859 (GRCm38)	S947T	probably benign	Het
B4galt1	A	T	4: 40,853,804 (GRCm38)	M1K	probably null	Het
BC025446	T	A	15: 75,220,725 (GRCm38)	C98S	probably damaging	Het
Ccpg1	G	A	9: 72,997,421 (GRCm38)	S4N	unknown	Het
Cfap43	A	T	19: 47,897,871 (GRCm38)	L102M	probably benign	Het
Clic6	T	C	16: 92,530,756 (GRCm38)	I483T	possibly damaging	Het
Col6a6	A	T	9: 105,784,174 (GRCm38)	D245E	probably benign	Het
Cpsf7	G	A	19: 10,540,849 (GRCm38)		probably null	Het
Depdc5	A	G	5: 32,934,010 (GRCm38)	D721G	probably benign	Het
Dhx29	C	T	13: 112,947,328 (GRCm38)	T639I	possibly damaging	Het
Dock7	T	C	4: 98,973,189 (GRCm38)	E1397G	unknown	Het
Dsp	C	T	13: 38,192,403 (GRCm38)	T1388M	probably damaging	Het
Fam186b	C	T	15: 99,285,544 (GRCm38)	G73D	probably damaging	Het
Ganab	A	G	19: 8,915,712 (GRCm38)	D960G	probably damaging	Het
Gm12394	G	T	4: 42,793,833 (GRCm38)	Q100K	probably benign	Het
Gria1	T	C	11: 57,309,789 (GRCm38)	V764A	probably damaging	Het
Grk3	T	C	5: 112,915,047 (GRCm38)	K645E	probably benign	Het
Hecw2	A	T	1: 53,839,029 (GRCm38)	Y1339*	probably null	Het
Hmcn2	C	A	2: 31,426,833 (GRCm38)	T3808N	probably damaging	Het
Il20rb	A	T	9: 100,473,002 (GRCm38)	N129K	possibly damaging	Het
Itgb4	T	C	11: 115,983,271 (GRCm38)	Y340H	probably damaging	Het
Kat14	T	C	2: 144,400,819 (GRCm38)	I599T	possibly damaging	Het
Kif1b	A	C	4: 149,238,010 (GRCm38)	D817E	probably benign	Het
Lamb2	T	A	9: 108,480,561 (GRCm38)	C94*	probably null	Het
Larp1	T	C	11: 58,051,064 (GRCm38)	S743P	probably damaging	Het
Ldlrap1	T	C	4: 134,747,179 (GRCm38)	N267S	probably damaging	Het
Ltbp2	G	A	12: 84,791,090 (GRCm38)	P1192L	probably benign	Het
Ltf	T	C	9: 111,021,996 (GRCm38)	L92P	probably damaging	Het
Mns1	C	A	9: 72,452,608 (GRCm38)	Q347K	probably benign	Het
Myof	A	T	19: 37,960,926 (GRCm38)	F611I	probably damaging	Het
Nop56	T	C	2: 130,275,681 (GRCm38)	L76P	probably damaging	Het
Nphp1	T	C	2: 127,774,088 (GRCm38)	H114R		Het
Olfr1280	T	A	2: 111,316,053 (GRCm38)	N191K	probably benign	Het
Olfr1512	G	C	14: 52,372,653 (GRCm38)	Y133*	probably null	Het
Olfr390	C	A	11: 73,787,275 (GRCm38)	N112K	possibly damaging	Het
Park2	C	A	17: 11,838,634 (GRCm38)	H301N	possibly damaging	Het
Pcdha12	A	G	18: 37,020,939 (GRCm38)	D237G	probably damaging	Het
Pitpnm3	A	T	11: 72,061,586 (GRCm38)	M593K	possibly damaging	Het
Plxdc1	C	T	11: 97,954,855 (GRCm38)	V211I	probably damaging	Het
Prpf38a	A	T	4: 108,572,875 (GRCm38)	H143Q	probably damaging	Het
Sdk2	T	C	11: 113,806,279 (GRCm38)	T1769A	probably benign	Het
Stab1	T	C	14: 31,162,939 (GRCm38)	D153G	possibly damaging	Het
Tm7sf3	C	T	6: 146,623,681 (GRCm38)	D89N	possibly damaging	Het
Tnrc6b	T	A	15: 80,880,436 (GRCm38)	M713K	probably benign	Het
Top2a	T	C	11: 99,003,608 (GRCm38)	K966E	possibly damaging	Het
Vars2	T	C	17: 35,662,135 (GRCm38)	T421A	probably damaging	Het
Vmn1r1	A	T	1: 182,157,205 (GRCm38)	C298*	probably null	Het
Vwa3a	T	C	7: 120,804,030 (GRCm38)		probably null	Het
Vwa5b1	G	T	4: 138,588,629 (GRCm38)	Q601K	possibly damaging	Het
Zbtb46	T	C	2: 181,395,488 (GRCm38)	K454E	probably damaging	Het
Zfp426	T	C	9: 20,470,281 (GRCm38)	H470R	probably benign	Het

Other mutations in Itgb6

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00586:Itgb6	APN	2	60,620,352 (GRCm38)	missense	probably benign	0.07
IGL01363:Itgb6	APN	2	60,611,382 (GRCm38)	missense	possibly damaging	0.89
IGL01810:Itgb6	APN	2	60,627,985 (GRCm38)	missense	probably benign	0.19
IGL02026:Itgb6	APN	2	60,628,066 (GRCm38)	missense	possibly damaging	0.79
IGL02347:Itgb6	APN	2	60,611,412 (GRCm38)	missense	probably benign
R0372:Itgb6	UTSW	2	60,627,841 (GRCm38)	missense	probably benign	0.28
R0533:Itgb6	UTSW	2	60,669,197 (GRCm38)	missense	probably benign	0.22
R0542:Itgb6	UTSW	2	60,605,136 (GRCm38)	missense	possibly damaging	0.53
R1037:Itgb6	UTSW	2	60,650,068 (GRCm38)	missense	probably damaging	1.00
R1191:Itgb6	UTSW	2	60,653,137 (GRCm38)	splice site	probably null
R1775:Itgb6	UTSW	2	60,672,644 (GRCm38)	nonsense	probably null
R1802:Itgb6	UTSW	2	60,653,281 (GRCm38)	missense	probably benign	0.22
R1934:Itgb6	UTSW	2	60,669,149 (GRCm38)	missense	probably benign	0.05
R2847:Itgb6	UTSW	2	60,600,535 (GRCm38)	missense	probably damaging	1.00
R3934:Itgb6	UTSW	2	60,611,411 (GRCm38)	missense	possibly damaging	0.89
R5603:Itgb6	UTSW	2	60,620,362 (GRCm38)	missense	probably benign	0.03
R6255:Itgb6	UTSW	2	60,605,276 (GRCm38)	missense	probably damaging	1.00
R6571:Itgb6	UTSW	2	60,628,456 (GRCm38)	missense	probably damaging	1.00
R6908:Itgb6	UTSW	2	60,650,021 (GRCm38)	missense	probably benign	0.02
R7010:Itgb6	UTSW	2	60,649,978 (GRCm38)	missense	probably damaging	1.00
R7212:Itgb6	UTSW	2	60,634,654 (GRCm38)	missense	probably damaging	0.99
R7259:Itgb6	UTSW	2	60,650,011 (GRCm38)	missense	probably damaging	1.00
R7300:Itgb6	UTSW	2	60,605,306 (GRCm38)	missense	probably benign	0.04
R7491:Itgb6	UTSW	2	60,620,376 (GRCm38)	missense	probably damaging	1.00
R7532:Itgb6	UTSW	2	60,669,213 (GRCm38)	missense	probably benign
R7861:Itgb6	UTSW	2	60,628,444 (GRCm38)	missense	probably damaging	1.00
R8086:Itgb6	UTSW	2	60,650,032 (GRCm38)	missense	probably damaging	0.98
R8795:Itgb6	UTSW	2	60,653,285 (GRCm38)	missense	probably damaging	1.00
R8886:Itgb6	UTSW	2	60,627,980 (GRCm38)	nonsense	probably null
R8933:Itgb6	UTSW	2	60,627,903 (GRCm38)	missense	probably damaging	1.00
R9015:Itgb6	UTSW	2	60,654,688 (GRCm38)	missense	probably damaging	1.00
X0018:Itgb6	UTSW	2	60,672,666 (GRCm38)	missense	possibly damaging	0.88
Z1088:Itgb6	UTSW	2	60,620,211 (GRCm38)	missense	probably null	1.00
Z1176:Itgb6	UTSW	2	60,611,468 (GRCm38)	missense	possibly damaging	0.94

Predicted Primers

PCR Primer
(F):5'- TGCTTCCGTACGGCGATAAG -3'
(R):5'- CTGCAGGTTGCTGGATAGAG -3'

Sequencing Primer
(F):5'- GCGATAAGTGGCAGATGCAC -3'
(R):5'- GAGGAAGCAATAACCAGCATTTTC -3'

Posted On

2022-06-15