Mutagenetix > Incidental Mutation

Incidental Mutation 'R0542:Itgb6'

49960

Institutional Source

Beutler Lab

Gene Symbol

Itgb6

Ensembl Gene

ENSMUSG00000026971

Gene Name

integrin beta 6

Synonyms

4831415H04Rik, 2210409C20Rik

MMRRC Submission

038734-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.728) question?

Stock #

R0542 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

60428636-60552987 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 60435480 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Serine at position 757 (C757S)

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

SMART Domains

Protein: ENSMUSP00000028348
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	1.59e-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

SMART Domains

Protein: ENSMUSP00000054944
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	1.59e-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

possibly damaging
Transcript: ENSMUST00000112517
AA Change: C757S

PolyPhen 2 Score 0.533 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000108136
Gene: ENSMUSG00000026971
AA Change: C757S

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

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

Meta Mutation Damage Score

0.1795

Coding Region Coverage

1x: 99.3%
3x: 98.6%
10x: 97.1%
20x: 95.0%

Validation Efficiency

99% (70/71)

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: 69 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abhd12b	C	A	12: 70,210,269 (GRCm39)	N71K	possibly damaging	Het
Adgrl2	A	G	3: 148,564,854 (GRCm39)	I242T	probably damaging	Het
Adgrv1	A	G	13: 81,721,437 (GRCm39)	S714P	probably damaging	Het
Agap3	G	A	5: 24,705,184 (GRCm39)	R704Q	possibly damaging	Het
Ankrd11	T	C	8: 123,622,509 (GRCm39)	R448G	probably damaging	Het
Anks1b	T	C	10: 89,909,829 (GRCm39)		probably benign	Het
Caml	A	T	13: 55,770,974 (GRCm39)	Q24L	possibly damaging	Het
Cdc14b	G	A	13: 64,391,497 (GRCm39)	T124I	probably benign	Het
Clca3a2	A	G	3: 144,781,571 (GRCm39)		probably benign	Het
Col12a1	A	G	9: 79,512,610 (GRCm39)		probably null	Het
Crispld1	T	C	1: 17,816,992 (GRCm39)	V183A	possibly damaging	Het
Cstdc1	A	G	2: 148,624,092 (GRCm39)	N22S	probably benign	Het
Dhx40	C	T	11: 86,695,082 (GRCm39)		probably null	Het
Dmxl1	T	A	18: 50,026,761 (GRCm39)	D1956E	probably benign	Het
Dsc2	A	G	18: 20,184,283 (GRCm39)	V35A	probably damaging	Het
Dync2i2	A	G	2: 29,921,837 (GRCm39)	V508A	probably damaging	Het
Elovl2	A	G	13: 41,345,452 (GRCm39)		probably benign	Het
Gapvd1	T	C	2: 34,615,048 (GRCm39)		probably benign	Het
Gnaq	T	A	19: 16,196,982 (GRCm39)	I56N	probably damaging	Het
Gpr139	T	C	7: 118,744,306 (GRCm39)	D93G	probably benign	Het
Hars1	C	T	18: 36,904,234 (GRCm39)	R215H	probably benign	Het
Helz2	C	A	2: 180,873,882 (GRCm39)	W2204L	probably damaging	Het
Ift70b	A	G	2: 75,767,055 (GRCm39)	V566A	probably damaging	Het
Kpnb1	G	A	11: 97,078,398 (GRCm39)	T5I	probably benign	Het
Krt82	T	C	15: 101,454,035 (GRCm39)		probably benign	Het
Lgals9	T	A	11: 78,860,546 (GRCm39)	K175N	possibly damaging	Het
Lrp2	A	G	2: 69,258,998 (GRCm39)	I4564T	probably benign	Het
Mblac1	A	G	5: 138,192,798 (GRCm39)	T47A	possibly damaging	Het
Med12l	G	A	3: 58,949,822 (GRCm39)	D182N	probably damaging	Het
Megf9	A	G	4: 70,353,585 (GRCm39)	I407T	probably benign	Het
Mtmr6	A	T	14: 60,529,578 (GRCm39)		probably null	Het
Mtor	A	G	4: 148,624,907 (GRCm39)	T2173A	probably benign	Het
Mzt1	A	T	14: 99,277,938 (GRCm39)		probably benign	Het
Narf	T	C	11: 121,143,690 (GRCm39)	L444P	probably damaging	Het
Nsd1	A	T	13: 55,408,271 (GRCm39)	Q1305L	possibly damaging	Het
Ntsr1	A	G	2: 180,184,374 (GRCm39)	Y359C	probably damaging	Het
Olfm1	A	G	2: 28,104,640 (GRCm39)	D159G	possibly damaging	Het
Or2l13b	A	T	16: 19,348,732 (GRCm39)	*313R	probably null	Het
Pcdh1	C	T	18: 38,322,975 (GRCm39)	V953I	probably damaging	Het
Pcdhb11	A	T	18: 37,556,887 (GRCm39)	D739V	probably damaging	Het
Pdgfd	A	G	9: 6,359,769 (GRCm39)	N280S	probably damaging	Het
Per2	A	T	1: 91,366,054 (GRCm39)		probably null	Het
Pfkp	G	T	13: 6,672,028 (GRCm39)	C122*	probably null	Het
Plxna4	G	A	6: 32,169,232 (GRCm39)	R1322W	probably damaging	Het
Ppox	A	G	1: 171,106,818 (GRCm39)	L202P	probably damaging	Het
Ppp1r3e	G	A	14: 55,114,588 (GRCm39)	P58L	probably benign	Het
Prr23a2	A	C	9: 98,739,086 (GRCm39)	N148T	probably benign	Het
Psd	T	C	19: 46,302,649 (GRCm39)	T842A	probably damaging	Het
Ranbp2	C	T	10: 58,314,236 (GRCm39)	A1652V	probably benign	Het
Rragd	G	A	4: 33,007,103 (GRCm39)	V144M	probably damaging	Het
Sema6a	T	G	18: 47,381,643 (GRCm39)	D968A	probably damaging	Het
Slc30a5	A	T	13: 100,945,793 (GRCm39)		probably null	Het
Snx17	G	T	5: 31,353,895 (GRCm39)		probably null	Het
Styxl2	A	T	1: 165,928,853 (GRCm39)	M253K	possibly damaging	Het
Syt14	G	T	1: 192,613,111 (GRCm39)	T563K	probably damaging	Het
Tada3	T	C	6: 113,352,175 (GRCm39)	K85E	probably damaging	Het
Tspear	T	C	10: 77,716,921 (GRCm39)	V532A	probably benign	Het
Ttn	A	T	2: 76,723,453 (GRCm39)	C6426S	possibly damaging	Het
Unc79	T	C	12: 103,060,437 (GRCm39)		probably benign	Het
Usp19	A	G	9: 108,371,584 (GRCm39)		probably null	Het
Vav3	G	A	3: 109,434,746 (GRCm39)	D426N	probably damaging	Het
Vezt	T	C	10: 93,842,958 (GRCm39)		probably null	Het
Vldlr	G	T	19: 27,213,655 (GRCm39)	R114L	probably benign	Het
Wwc2	C	T	8: 48,321,414 (GRCm39)	V567I	unknown	Het
Zfp423	T	C	8: 88,507,237 (GRCm39)	T911A	probably damaging	Het
Zfp719	A	G	7: 43,238,677 (GRCm39)		probably null	Het
Zkscan16	A	T	4: 58,956,597 (GRCm39)	H293L	possibly damaging	Het
Zkscan6	A	C	11: 65,719,525 (GRCm39)	N515T	possibly damaging	Het
Znfx1	A	G	2: 166,897,575 (GRCm39)	S450P	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
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
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'- TTCACTTCAGAAGGTTGCCTCCAC -3'
(R):5'- GCAGGAGAAGAGTTGTCCAATGTCC -3'

Sequencing Primer
(F):5'- CATGAGCCTCTAAAGCTGTTAC -3'
(R):5'- GAAGAGTTGTCCAATGTCCTATGC -3'

Posted On

2013-06-12