Incidental Mutation 'R7300:Itgb6'
ID 566906
Institutional Source Beutler Lab
Gene Symbol Itgb6
Ensembl Gene ENSMUSG00000026971
Gene Name integrin beta 6
Synonyms 4831415H04Rik, 2210409C20Rik
MMRRC Submission 045404-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.728) question?
Stock # R7300 (G1)
Quality Score 225.009
Status Validated
Chromosome 2
Chromosomal Location 60428636-60552987 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 60435650 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 700 (D700G)
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: D700G

PolyPhen 2 Score 0.035 (Sensitivity: 0.94; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000028348
Gene: ENSMUSG00000026971
AA Change: D700G

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 benign
Transcript: ENSMUST00000059888
AA Change: D700G

PolyPhen 2 Score 0.035 (Sensitivity: 0.94; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000054944
Gene: ENSMUSG00000026971
AA Change: D700G

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 benign
Transcript: ENSMUST00000112517
AA Change: D700G

PolyPhen 2 Score 0.035 (Sensitivity: 0.94; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000108136
Gene: ENSMUSG00000026971
AA Change: D700G

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 benign
Transcript: ENSMUST00000154764
AA Change: D700G

PolyPhen 2 Score 0.035 (Sensitivity: 0.94; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000117815
Gene: ENSMUSG00000026971
AA Change: D700G

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: 100.0%
  • 10x: 99.7%
  • 20x: 99.1%
Validation Efficiency 94% (45/48)
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: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Actmap G A 7: 26,900,548 (GRCm39) A176T probably damaging Het
Adgrd1 T C 5: 129,174,411 (GRCm39) probably null Het
Atr T C 9: 95,747,423 (GRCm39) I235T probably benign Het
Bpifb5 A G 2: 154,070,066 (GRCm39) E172G possibly damaging Het
Btbd2 A T 10: 80,480,100 (GRCm39) I420N probably damaging Het
Ccdc141 G A 2: 76,845,038 (GRCm39) T1343I probably benign Het
Cd59b A T 2: 103,914,795 (GRCm39) K64N possibly damaging Het
Cd63 A G 10: 128,748,034 (GRCm39) N144S probably benign Het
Cip2a A G 16: 48,834,217 (GRCm39) K631E probably damaging Het
Col4a4 C T 1: 82,464,361 (GRCm39) R989Q unknown Het
Cyp4a31 A G 4: 115,427,468 (GRCm39) T225A probably benign Het
Dnah1 T G 14: 30,991,798 (GRCm39) E3068A probably benign Het
Fpgt C T 3: 154,792,612 (GRCm39) V472I probably damaging Het
Gm4779 TCGGGGCCGGGGCCGGGGCCG TCGGGGCCGGGGCCGGGGCCGGGGCCG X: 100,837,777 (GRCm39) probably benign Het
Homer3 T C 8: 70,737,953 (GRCm39) M1T probably null Het
Ighv1-4 T C 12: 114,450,908 (GRCm39) I67V probably benign Het
Il17ra A G 6: 120,459,063 (GRCm39) D738G probably benign Het
Il2ra A G 2: 11,681,721 (GRCm39) T109A not run Het
Krt31 T C 11: 99,938,612 (GRCm39) E327G probably damaging Het
Large1 A C 8: 73,564,224 (GRCm39) L514R probably damaging Het
Map3k8 C T 18: 4,349,076 (GRCm39) V81M probably damaging Het
Mstn T C 1: 53,103,239 (GRCm39) S192P probably benign Het
Olfml3 T C 3: 103,643,176 (GRCm39) K402E probably damaging Het
Or13a27 A T 7: 139,925,268 (GRCm39) N211K probably damaging Het
Or2n1c A C 17: 38,519,588 (GRCm39) T151P possibly damaging Het
Or2y1c C T 11: 49,361,473 (GRCm39) T165I probably benign Het
Or52i2 A G 7: 102,319,417 (GRCm39) S97G probably benign Het
Or7g17 T C 9: 18,768,530 (GRCm39) I194T not run Het
Or8k25 T C 2: 86,244,330 (GRCm39) E22G probably null Het
Pde4a T C 9: 21,117,618 (GRCm39) S627P probably damaging Het
Pdxdc1 A G 16: 13,697,374 (GRCm39) I102T probably damaging Het
Phldb2 A G 16: 45,645,925 (GRCm39) S174P probably damaging Het
Pla2g4e C T 2: 120,021,680 (GRCm39) V143I probably damaging Het
Pou4f2 C T 8: 79,162,735 (GRCm39) probably null Het
Ppl C T 16: 4,920,235 (GRCm39) V387M possibly damaging Het
Pramel43 A T 5: 94,760,655 (GRCm39) D340E probably benign Het
Rarg A T 15: 102,160,852 (GRCm39) probably null Het
Ryr1 T C 7: 28,758,936 (GRCm39) Y3414C probably damaging Het
Serpinb8 T A 1: 107,535,053 (GRCm39) *375K probably null Het
Sim1 C T 10: 50,785,614 (GRCm39) H228Y probably benign Het
Spag4 A T 2: 155,907,541 (GRCm39) H87L probably benign Het
Ttc17 A T 2: 94,205,479 (GRCm39) L289Q probably damaging Het
Ubac2 T C 14: 122,142,586 (GRCm39) L28P probably damaging Het
Vmn2r31 C A 7: 7,387,775 (GRCm39) A599S possibly damaging Het
Vps13c T C 9: 67,847,826 (GRCm39) V2196A probably benign Het
Zswim5 A T 4: 116,833,102 (GRCm39) I612F probably damaging Het
Zzef1 T A 11: 72,765,830 (GRCm39) H1452Q probably benign 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
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'- GTCCACATACCGTTTGCCAC -3'
(R):5'- AAGATATCAGCATTTCCCTCCTG -3'

Sequencing Primer
(F):5'- ACTTGGCCTTAGAGCGTTC -3'
(R):5'- GCATTTCCCTCCTGTAGAAAATATG -3'
Posted On 2019-06-26