Incidental Mutation 'R1775:Itgb6'
ID 204285
Institutional Source Beutler Lab
Gene Symbol Itgb6
Ensembl Gene ENSMUSG00000026971
Gene Name integrin beta 6
Synonyms 4831415H04Rik, 2210409C20Rik
MMRRC Submission 039806-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.728) question?
Stock # R1775 (G1)
Quality Score 225
Status Validated
Chromosome 2
Chromosomal Location 60428636-60552987 bp(-) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) C to T at 60502988 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tryptophan to Stop codon at position 43 (W43*)
Ref Sequence ENSEMBL: ENSMUSP00000117815 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000028348] [ENSMUST00000059888] [ENSMUST00000112517] [ENSMUST00000154764]
AlphaFold Q9Z0T9
Predicted Effect probably null
Transcript: ENSMUST00000028348
AA Change: W43*
SMART Domains Protein: ENSMUSP00000028348
Gene: ENSMUSG00000026971
AA Change: W43*

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: W43*
SMART Domains Protein: ENSMUSP00000054944
Gene: ENSMUSG00000026971
AA Change: W43*

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: W43*
SMART Domains Protein: ENSMUSP00000108136
Gene: ENSMUSG00000026971
AA Change: W43*

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 noncoding transcript
Transcript: ENSMUST00000133887
Predicted Effect noncoding transcript
Transcript: ENSMUST00000145009
Predicted Effect noncoding transcript
Transcript: ENSMUST00000147906
Predicted Effect probably null
Transcript: ENSMUST00000154764
AA Change: W43*
SMART Domains Protein: ENSMUSP00000117815
Gene: ENSMUSG00000026971
AA Change: W43*

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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000151035
Meta Mutation Damage Score 0.9754 question?
Coding Region Coverage
  • 1x: 97.5%
  • 3x: 97.0%
  • 10x: 95.5%
  • 20x: 92.9%
Validation Efficiency 98% (95/97)
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: 93 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700034J04Rik A G 12: 11,272,143 (GRCm39) S20P unknown Het
4921528I07Rik G A 9: 114,108,386 (GRCm39) noncoding transcript Het
4930562C15Rik G A 16: 4,669,422 (GRCm39) probably null Het
4933427I04Rik A G 4: 123,754,286 (GRCm39) T67A possibly damaging Het
Abcc2 A T 19: 43,786,858 (GRCm39) N160Y possibly damaging Het
Acaca A G 11: 84,191,248 (GRCm39) D155G possibly damaging Het
Afg3l1 G A 8: 124,219,639 (GRCm39) R389Q possibly damaging Het
Ank2 G A 3: 126,728,196 (GRCm39) T799M probably benign Het
Anxa2 T C 9: 69,395,363 (GRCm39) Y202H possibly damaging Het
Arhgef33 A G 17: 80,681,172 (GRCm39) T771A probably benign Het
Atp12a T C 14: 56,610,046 (GRCm39) V182A probably benign Het
Birc6 T C 17: 74,919,281 (GRCm39) L210S probably damaging Het
Car3 A G 3: 14,929,492 (GRCm39) T73A probably benign Het
Cd5l T C 3: 87,275,966 (GRCm39) L312P probably damaging Het
Celf5 A G 10: 81,303,138 (GRCm39) probably benign Het
Cep290 T A 10: 100,332,672 (GRCm39) V257E probably damaging Het
Cntrob T C 11: 69,211,693 (GRCm39) D177G possibly damaging Het
Copg2 A T 6: 30,787,271 (GRCm39) F658I probably damaging Het
Csmd3 T C 15: 47,763,135 (GRCm39) T1234A probably damaging Het
Dhx35 A G 2: 158,648,357 (GRCm39) T72A probably damaging Het
Dmrtc2 A T 7: 24,573,792 (GRCm39) H209L possibly damaging Het
Eml5 G T 12: 98,818,963 (GRCm39) probably null Het
Evpl T C 11: 116,114,486 (GRCm39) E1068G possibly damaging Het
Ezh2 A G 6: 47,553,594 (GRCm39) M41T probably damaging Het
Fmo3 A G 1: 162,796,294 (GRCm39) S93P possibly damaging Het
Gdi2 A G 13: 3,610,018 (GRCm39) Y213C possibly damaging Het
Gpr15 A T 16: 58,538,921 (GRCm39) I56K probably benign Het
Gria2 G T 3: 80,598,645 (GRCm39) S796R probably benign Het
Hectd4 T A 5: 121,429,254 (GRCm39) probably benign Het
Hgfac T C 5: 35,200,194 (GRCm39) probably benign Het
Hspg2 C T 4: 137,247,467 (GRCm39) R1200W probably damaging Het
Ift52 G A 2: 162,867,275 (GRCm39) D78N possibly damaging Het
Iqca1 C A 1: 90,009,138 (GRCm39) W415L probably damaging Het
Ism1 A T 2: 139,587,963 (GRCm39) K236N probably damaging Het
Kcnk18 T A 19: 59,223,773 (GRCm39) I306N probably damaging Het
Kctd8 T C 5: 69,497,903 (GRCm39) K248E probably damaging Het
Layn T A 9: 50,970,833 (GRCm39) I237F probably benign Het
Lce3f C T 3: 92,900,248 (GRCm39) P23L unknown Het
Lct A G 1: 128,228,038 (GRCm39) F1152L probably damaging Het
Mettl25b A G 3: 87,831,124 (GRCm39) S404P probably damaging Het
Mxra8 T C 4: 155,927,531 (GRCm39) I413T probably damaging Het
Nedd9 A G 13: 41,471,438 (GRCm39) V187A probably benign Het
Net1 A G 13: 3,937,642 (GRCm39) L207P probably damaging Het
Neurod1 G T 2: 79,284,781 (GRCm39) P201T probably benign Het
Nlrp1b A G 11: 71,052,647 (GRCm39) F927S probably damaging Het
Ntrk3 T A 7: 78,005,789 (GRCm39) H524L possibly damaging Het
Nup98 A C 7: 101,784,144 (GRCm39) S1063A probably benign Het
Or10ak11 T A 4: 118,687,065 (GRCm39) M191L probably benign Het
Or11h4b G T 14: 50,918,623 (GRCm39) P156Q possibly damaging Het
Or56b1 G A 7: 104,285,366 (GRCm39) V162I probably benign Het
Or5b97 C A 19: 12,878,599 (GRCm39) V182F probably benign Het
Or5m9b G A 2: 85,905,104 (GRCm39) V7I possibly damaging Het
Or6d15 T C 6: 116,559,925 (GRCm39) probably benign Het
Pdzd2 G A 15: 12,592,546 (GRCm39) R33W probably damaging Het
Phf21a G A 2: 92,160,860 (GRCm39) V243I probably damaging Het
Ppp1r12b A G 1: 134,821,086 (GRCm39) probably null Het
Rexo5 T C 7: 119,444,634 (GRCm39) V703A probably benign Het
Rgs4 A G 1: 169,572,847 (GRCm39) S30P probably benign Het
Rxra C A 2: 27,646,256 (GRCm39) D340E probably damaging Het
Samhd1 A G 2: 156,949,467 (GRCm39) V473A probably benign Het
Scn3a T A 2: 65,302,686 (GRCm39) K1253N probably damaging Het
Scn7a T C 2: 66,511,299 (GRCm39) N1207S probably benign Het
Sec24d T A 3: 123,130,166 (GRCm39) I443N probably damaging Het
Sema4g T A 19: 44,987,681 (GRCm39) probably null Het
Sema5b A G 16: 35,480,694 (GRCm39) K787R probably benign Het
Serpinc1 A G 1: 160,817,217 (GRCm39) N104D probably benign Het
Sfn T C 4: 133,328,542 (GRCm39) H180R probably damaging Het
Slc22a6 G T 19: 8,596,471 (GRCm39) probably null Het
Slc9a8 T C 2: 167,299,278 (GRCm39) S217P probably benign Het
Smc6 A G 12: 11,359,270 (GRCm39) N965D probably benign Het
Sod2 T A 17: 13,233,919 (GRCm39) I177N probably damaging Het
Sp4 A T 12: 118,263,335 (GRCm39) I237K probably damaging Het
Sulf2 T C 2: 165,921,532 (GRCm39) K697R probably benign Het
Svs4 A T 2: 164,119,005 (GRCm39) D110E unknown Het
Tas1r1 T A 4: 152,122,675 (GRCm39) R57* probably null Het
Tlr5 T C 1: 182,801,287 (GRCm39) I197T probably damaging Het
Tmc3 T C 7: 83,261,740 (GRCm39) V606A probably benign Het
Tmem241 T A 18: 12,251,469 (GRCm39) L37F probably damaging Het
Tmem59l A T 8: 70,938,903 (GRCm39) N90K probably damaging Het
Tram1 A C 1: 13,646,680 (GRCm39) probably benign Het
Trim15 T A 17: 37,176,061 (GRCm39) H162L probably benign Het
Ttc28 T A 5: 111,424,677 (GRCm39) Y1501N probably benign Het
Ttc34 T C 4: 154,946,671 (GRCm39) V857A probably benign Het
Tulp4 A G 17: 6,189,321 (GRCm39) T48A probably damaging Het
Usp9y T C Y: 1,368,089 (GRCm39) E939G probably damaging Het
Utp20 A G 10: 88,606,670 (GRCm39) I1634T probably benign Het
Vmn2r72 T C 7: 85,387,378 (GRCm39) M729V probably benign Het
Vps13c C T 9: 67,788,729 (GRCm39) T334M probably damaging Het
Wnk4 C G 11: 101,167,166 (GRCm39) probably benign Het
Xpo1 A G 11: 23,221,193 (GRCm39) N97D probably benign Het
Xpo4 A T 14: 57,841,129 (GRCm39) F518Y probably benign Het
Zfp668 C T 7: 127,465,778 (GRCm39) V469I possibly damaging Het
Zfp85 C A 13: 67,897,823 (GRCm39) C83F 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
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'- TGGCATCCGTTCCTTCAGTAAG -3'
(R):5'- TGTGAGTTACTAGCCTTCAGAGG -3'

Sequencing Primer
(F):5'- GTTCCTTCAGTAAGTTGTTTCCAAAG -3'
(R):5'- GAGTTACTAGCCTTCAGAGGATTAC -3'
Posted On 2014-06-23