Incidental Mutation 'R8886:Itgb6'
ID 677303
Institutional Source Beutler Lab
Gene Symbol Itgb6
Ensembl Gene ENSMUSG00000026971
Gene Name integrin beta 6
Synonyms 4831415H04Rik, 2210409C20Rik
MMRRC Submission 068691-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.728) question?
Stock # R8886 (G1)
Quality Score 225.009
Status Validated
Chromosome 2
Chromosomal Location 60428636-60552987 bp(-) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) A to T at 60458324 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Cysteine to Stop codon at position 476 (C476*)
Ref Sequence ENSEMBL: ENSMUSP00000028348 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000028348] [ENSMUST00000059888] [ENSMUST00000112517] [ENSMUST00000154764]
AlphaFold Q9Z0T9
Predicted Effect probably null
Transcript: ENSMUST00000028348
AA Change: C476*
SMART Domains Protein: ENSMUSP00000028348
Gene: ENSMUSG00000026971
AA Change: C476*

DomainStartEndE-ValueType
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 null
Transcript: ENSMUST00000059888
AA Change: C476*
SMART Domains Protein: ENSMUSP00000054944
Gene: ENSMUSG00000026971
AA Change: C476*

DomainStartEndE-ValueType
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 null
Transcript: ENSMUST00000112517
AA Change: C476*
SMART Domains Protein: ENSMUSP00000108136
Gene: ENSMUSG00000026971
AA Change: C476*

DomainStartEndE-ValueType
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 null
Transcript: ENSMUST00000154764
AA Change: C476*
SMART Domains Protein: ENSMUSP00000117815
Gene: ENSMUSG00000026971
AA Change: C476*

DomainStartEndE-ValueType
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: 99.6%
  • 20x: 98.8%
Validation Efficiency 99% (72/73)
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: 71 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700025G04Rik T A 1: 151,882,349 (GRCm39) N14I possibly damaging Het
1700066M21Rik T A 1: 57,422,008 (GRCm39) I128N probably damaging Het
4930407I10Rik G T 15: 81,950,051 (GRCm39) S1316I probably damaging Het
Abcc9 T C 6: 142,546,420 (GRCm39) probably benign Het
Adgrb3 A G 1: 25,150,928 (GRCm39) S1102P probably damaging Het
BC061237 A C 14: 44,741,691 (GRCm39) I145L probably benign Het
Birc7 A T 2: 180,574,786 (GRCm39) probably benign Het
Boc C T 16: 44,319,806 (GRCm39) G393S Het
Ccdc112 C T 18: 46,444,826 (GRCm39) G18R unknown Het
Cryzl1 T A 16: 91,492,188 (GRCm39) T213S possibly damaging Het
Cttnbp2 T C 6: 18,414,298 (GRCm39) N916D probably benign Het
Cyp4v3 A T 8: 45,774,785 (GRCm39) L123* probably null Het
Dmpk C A 7: 18,825,886 (GRCm39) probably benign Het
Dnah9 A T 11: 65,943,840 (GRCm39) V1932E probably damaging Het
Ect2 T C 3: 27,200,126 (GRCm39) probably benign Het
Eif4a3 A G 11: 119,179,705 (GRCm39) Y361H probably damaging Het
Fkbp10 A G 11: 100,312,862 (GRCm39) E336G probably damaging Het
Gnptg T C 17: 25,453,628 (GRCm39) S305G probably benign Het
Greb1l A T 18: 10,553,843 (GRCm39) I1615F probably benign Het
Gse1 G A 8: 121,297,470 (GRCm39) R561Q unknown Het
Igkv9-129 T A 6: 67,817,221 (GRCm39) Y108* probably null Het
Igsf10 T A 3: 59,237,410 (GRCm39) T924S probably benign Het
Itih4 C T 14: 30,617,482 (GRCm39) Q601* probably null Het
Itpk1 G A 12: 102,550,604 (GRCm39) probably benign Het
Itpr3 G A 17: 27,337,651 (GRCm39) probably benign Het
Jakmip3 G A 7: 138,609,171 (GRCm39) E92K probably benign Het
Klhl29 A T 12: 5,187,542 (GRCm39) L274H possibly damaging Het
Klk1b5 T A 7: 43,869,192 (GRCm39) M122K probably damaging Het
Krt84 A G 15: 101,437,221 (GRCm39) I314T possibly damaging Het
Lama2 A T 10: 27,245,157 (GRCm39) probably benign Het
Lmntd1 T C 6: 145,363,152 (GRCm39) T270A probably damaging Het
Mindy4 T C 6: 55,255,223 (GRCm39) L567P probably benign Het
Mt2 A T 8: 94,899,476 (GRCm39) M1L probably damaging Het
Myct1 C T 10: 5,554,208 (GRCm39) T25I probably damaging Het
Myh11 A G 16: 14,052,278 (GRCm39) I396T Het
Naprt T C 15: 75,765,433 (GRCm39) T136A probably damaging Het
Nbea T C 3: 55,966,148 (GRCm39) N438S probably damaging Het
Nckap1 C A 2: 80,339,055 (GRCm39) probably null Het
Nop56 G T 2: 130,117,902 (GRCm39) R126L probably damaging Het
Nts C T 10: 102,320,868 (GRCm39) A74T probably benign Het
Ogfr GGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCCAAAGCCAGGTGG GGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCCAAAGCCAGGTGG 2: 180,237,059 (GRCm39) probably benign Het
Or8b49 T G 9: 38,506,446 (GRCm39) F310V possibly damaging Het
Pcp2 A G 8: 3,675,208 (GRCm39) probably null Het
Pdgfra T C 5: 75,343,734 (GRCm39) S752P probably benign Het
Pign C T 1: 105,512,779 (GRCm39) V635I probably benign Het
Plekhg3 C A 12: 76,611,748 (GRCm39) H342Q possibly damaging Het
Ppp4c A T 7: 126,386,466 (GRCm39) I177N probably damaging Het
Psmd5 A G 2: 34,747,755 (GRCm39) F301L possibly damaging Het
Rad52 C T 6: 119,890,041 (GRCm39) R56C probably damaging Het
Rbm20 A T 19: 53,801,767 (GRCm39) I92L probably benign Het
Rnf213 A G 11: 119,364,264 (GRCm39) D4522G Het
Robo3 T C 9: 37,328,768 (GRCm39) E1276G probably damaging Het
Rxrb T C 17: 34,256,428 (GRCm39) F500L probably damaging Het
Sar1a A T 10: 61,522,172 (GRCm39) N88I possibly damaging Het
Scd3 A G 19: 44,230,276 (GRCm39) D353G probably damaging Het
Sh2d4b T C 14: 40,595,946 (GRCm39) probably benign Het
Ski A T 4: 155,244,016 (GRCm39) L498Q probably null Het
Spocd1 T A 4: 129,845,631 (GRCm39) M497K Het
Sspo A G 6: 48,458,201 (GRCm39) E3299G possibly damaging Het
St14 C A 9: 31,008,420 (GRCm39) V507F possibly damaging Het
Tcf24 G A 1: 10,037,388 (GRCm39) T108I probably benign Het
Tecta T C 9: 42,278,359 (GRCm39) T1050A probably benign Het
Ttc17 T C 2: 94,205,473 (GRCm39) D291G probably benign Het
Tubgcp2 G T 7: 139,584,882 (GRCm39) R518S probably benign Het
Ugt2a3 T C 5: 87,484,358 (GRCm39) Y222C probably damaging Het
Unc5c C G 3: 141,509,581 (GRCm39) A687G probably benign Het
Usp42 T C 5: 143,700,714 (GRCm39) D1103G probably damaging Het
Vmn1r83 A C 7: 12,055,843 (GRCm39) D71E probably benign Het
Vmn2r3 T A 3: 64,194,892 (GRCm39) I9F possibly damaging Het
Zfand1 T C 3: 10,409,862 (GRCm39) Q160R probably null Het
Zhx3 T C 2: 160,623,216 (GRCm39) N317S probably damaging Het
Other mutations in Itgb6
AlleleSourceChrCoordTypePredicted EffectPPH 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
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
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'- ACAGAGAAGGCCTTTGTGTC -3'
(R):5'- GACTGTGAGCGTATCCAACTG -3'

Sequencing Primer
(F):5'- CAGTAAGGTCCGTAGATGCTTCC -3'
(R):5'- GCGTATCCAACTGTGAGAAAAG -3'
Posted On 2021-08-02