Incidental Mutation 'R6475:Itgb7'
ID 517405
Institutional Source Beutler Lab
Gene Symbol Itgb7
Ensembl Gene ENSMUSG00000001281
Gene Name integrin beta 7
Synonyms
MMRRC Submission 044608-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.220) question?
Stock # R6475 (G1)
Quality Score 225.009
Status Validated
Chromosome 15
Chromosomal Location 102124430-102140379 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 102124701 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Valine at position 772 (D772V)
Ref Sequence ENSEMBL: ENSMUSP00000001327 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000001327] [ENSMUST00000118729] [ENSMUST00000119168] [ENSMUST00000119800] [ENSMUST00000141465] [ENSMUST00000230867]
AlphaFold P26011
Predicted Effect probably benign
Transcript: ENSMUST00000001327
AA Change: D772V

PolyPhen 2 Score 0.122 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000001327
Gene: ENSMUSG00000001281
AA Change: D772V

DomainStartEndE-ValueType
signal peptide 1 19 N/A INTRINSIC
PSI 44 92 6.35e-6 SMART
INB 50 476 2.82e-273 SMART
VWA 151 383 7.52e-2 SMART
low complexity region 537 557 N/A INTRINSIC
Pfam:EGF_2 605 635 2.6e-7 PFAM
Integrin_B_tail 645 721 4.22e-18 SMART
low complexity region 732 744 N/A INTRINSIC
Integrin_b_cyt 746 792 7.82e-22 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000118729
SMART Domains Protein: ENSMUSP00000112985
Gene: ENSMUSG00000046897

DomainStartEndE-ValueType
low complexity region 53 62 N/A INTRINSIC
ZnF_C2H2 76 98 3.07e-1 SMART
ZnF_C2H2 104 126 1.69e-3 SMART
ZnF_C2H2 132 152 4.99e1 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000119168
Predicted Effect probably benign
Transcript: ENSMUST00000119800
SMART Domains Protein: ENSMUSP00000113770
Gene: ENSMUSG00000046897

DomainStartEndE-ValueType
low complexity region 65 74 N/A INTRINSIC
ZnF_C2H2 88 110 3.07e-1 SMART
ZnF_C2H2 116 138 1.69e-3 SMART
ZnF_C2H2 144 164 4.99e1 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000119830
SMART Domains Protein: ENSMUSP00000113281
Gene: ENSMUSG00000046897

DomainStartEndE-ValueType
ZnF_C2H2 25 47 3.07e-1 SMART
ZnF_C2H2 53 75 1.69e-3 SMART
ZnF_C2H2 81 101 4.99e1 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000141465
Predicted Effect unknown
Transcript: ENSMUST00000229440
AA Change: R61S
Predicted Effect probably benign
Transcript: ENSMUST00000230867
Predicted Effect noncoding transcript
Transcript: ENSMUST00000230550
Meta Mutation Damage Score 0.0980 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.5%
  • 10x: 97.5%
  • 20x: 92.0%
Validation Efficiency 96% (54/56)
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 dimers with an alpha4 chain or an alphaE chain and plays a role in leukocyte adhesion. Dimerization with alpha4 forms a homing receptor for migration of lymphocytes to the intestinal mucosa and Peyer's patches. Dimerization with alphaE permits binding to the ligand epithelial cadherin, a calcium-dependent adhesion molecule. Alternate splicing results in multiple transcript variants. Additional alternatively spliced transcript variants of this gene have been described, but their full-length nature is not known. [provided by RefSeq, Sep 2013]
PHENOTYPE: Homozygous null mice display hypoplasia of gut-associated lymph tissue due to defects in lymphocyte migration [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 58 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Asb5 T A 8: 55,003,610 (GRCm39) V44E probably damaging Het
Bmpr2 T A 1: 59,907,503 (GRCm39) D865E probably damaging Het
Ccr4 A G 9: 114,322,047 (GRCm39) V6A probably benign Het
Cd209a A T 8: 3,797,031 (GRCm39) D102E probably damaging Het
Cdh18 A G 15: 23,227,022 (GRCm39) D161G possibly damaging Het
Cog4 T A 8: 111,607,526 (GRCm39) I671N possibly damaging Het
Col14a1 T G 15: 55,309,218 (GRCm39) probably benign Het
Cpne6 A G 14: 55,751,110 (GRCm39) D173G probably damaging Het
Daglb G T 5: 143,467,406 (GRCm39) V275L probably benign Het
Defb43 G T 14: 63,249,321 (GRCm39) probably null Het
Dhx30 A G 9: 109,914,120 (GRCm39) V1022A possibly damaging Het
Egfem1 A T 3: 29,711,312 (GRCm39) K297M probably damaging Het
Egfr A G 11: 16,841,259 (GRCm39) I717V probably benign Het
Eif2ak1 T G 5: 143,803,765 (GRCm39) probably null Het
Epb42 T C 2: 120,857,614 (GRCm39) Y307C possibly damaging Het
Erlec1 G A 11: 30,898,442 (GRCm39) Q10* probably null Het
Fam185a A G 5: 21,630,281 (GRCm39) D39G probably benign Het
Fbxl4 T A 4: 22,433,661 (GRCm39) D599E probably damaging Het
Fgfr2 T A 7: 129,802,850 (GRCm39) T268S probably benign Het
Gabra1 A T 11: 42,053,382 (GRCm39) M84K probably benign Het
Gba1 A G 3: 89,113,235 (GRCm39) D222G probably benign Het
Gm3409 T A 5: 146,474,596 (GRCm39) H37Q possibly damaging Het
Gm4559 A G 7: 141,827,887 (GRCm39) C72R unknown Het
Grik4 T C 9: 42,540,304 (GRCm39) N292S probably benign Het
Haao A G 17: 84,139,113 (GRCm39) S274P possibly damaging Het
Hsd17b4 T A 18: 50,305,329 (GRCm39) probably null Het
Igdcc4 A T 9: 65,027,603 (GRCm39) S222C probably damaging Het
Iqub T A 6: 24,449,744 (GRCm39) N707I probably damaging Het
Kif14 T C 1: 136,455,149 (GRCm39) L1607P probably damaging Het
Klf5 A G 14: 99,538,817 (GRCm39) T77A probably benign Het
Klhl29 C T 12: 5,141,030 (GRCm39) V605I probably damaging Het
Map4k1 T C 7: 28,686,447 (GRCm39) V105A probably damaging Het
Mctp2 A T 7: 71,850,092 (GRCm39) probably null Het
Med12l A G 3: 59,164,500 (GRCm39) E1364G probably damaging Het
Mup9 A T 4: 60,375,805 (GRCm39) D30E possibly damaging Het
Naip1 T C 13: 100,545,596 (GRCm39) R1311G probably damaging Het
Or2ag2 A G 7: 106,485,604 (GRCm39) V140A probably benign Het
Or2v1 C T 11: 49,025,760 (GRCm39) T247I probably benign Het
Or4f14 G A 2: 111,743,204 (GRCm39) Q24* probably null Het
Or8g28 T A 9: 39,169,378 (GRCm39) M197L probably benign Het
Pkd1l3 A C 8: 110,349,844 (GRCm39) T230P unknown Het
Pthlh G T 6: 147,158,688 (GRCm39) H91N probably damaging Het
Rapgef5 T A 12: 117,681,942 (GRCm39) V239D probably damaging Het
Rita1 G A 5: 120,749,635 (GRCm39) T26I probably damaging Het
Robo3 T C 9: 37,334,586 (GRCm39) T615A probably damaging Het
Rpp38 T C 2: 3,330,644 (GRCm39) D86G probably benign Het
Sec31a T C 5: 100,533,129 (GRCm39) T539A probably damaging Het
Senp2 G T 16: 21,842,550 (GRCm39) V205L probably damaging Het
Septin10 T C 10: 59,028,133 (GRCm39) N63D possibly damaging Het
Sez6 A G 11: 77,864,670 (GRCm39) Het
Spesp1 C T 9: 62,179,715 (GRCm39) V398I probably benign Het
Tmbim7 G A 5: 3,714,319 (GRCm39) G19S probably benign Het
Tnni3k A T 3: 154,646,695 (GRCm39) L431* probably null Het
Trdn T A 10: 33,340,551 (GRCm39) probably null Het
Tubb2a A G 13: 34,259,442 (GRCm39) V116A possibly damaging Het
Ush1c T C 7: 45,878,643 (GRCm39) D124G probably damaging Het
Zfp768 A T 7: 126,943,827 (GRCm39) F103L probably damaging Het
Zfp799 A G 17: 33,039,820 (GRCm39) S149P probably damaging Het
Other mutations in Itgb7
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01012:Itgb7 APN 15 102,136,020 (GRCm39) missense probably benign 0.22
IGL01574:Itgb7 APN 15 102,135,975 (GRCm39) missense possibly damaging 0.83
IGL01814:Itgb7 APN 15 102,131,852 (GRCm39) missense possibly damaging 0.78
IGL01875:Itgb7 APN 15 102,126,430 (GRCm39) missense probably damaging 1.00
IGL01996:Itgb7 APN 15 102,126,412 (GRCm39) missense probably damaging 1.00
IGL02320:Itgb7 APN 15 102,132,772 (GRCm39) missense probably benign 0.04
IGL02541:Itgb7 APN 15 102,131,892 (GRCm39) missense probably benign 0.05
IGL02547:Itgb7 APN 15 102,126,945 (GRCm39) missense probably damaging 1.00
R0083:Itgb7 UTSW 15 102,131,917 (GRCm39) missense probably damaging 0.98
R0108:Itgb7 UTSW 15 102,131,917 (GRCm39) missense probably damaging 0.98
R0195:Itgb7 UTSW 15 102,130,618 (GRCm39) unclassified probably benign
R1033:Itgb7 UTSW 15 102,131,989 (GRCm39) missense probably damaging 1.00
R1627:Itgb7 UTSW 15 102,131,911 (GRCm39) missense probably damaging 0.97
R1999:Itgb7 UTSW 15 102,130,553 (GRCm39) missense probably damaging 1.00
R2150:Itgb7 UTSW 15 102,130,553 (GRCm39) missense probably damaging 1.00
R2331:Itgb7 UTSW 15 102,131,983 (GRCm39) missense probably damaging 1.00
R3747:Itgb7 UTSW 15 102,131,212 (GRCm39) missense probably damaging 1.00
R4758:Itgb7 UTSW 15 102,124,642 (GRCm39) missense probably benign 0.07
R4779:Itgb7 UTSW 15 102,132,848 (GRCm39) missense possibly damaging 0.54
R5134:Itgb7 UTSW 15 102,125,842 (GRCm39) missense probably damaging 1.00
R5158:Itgb7 UTSW 15 102,125,464 (GRCm39) missense probably benign 0.05
R5323:Itgb7 UTSW 15 102,140,059 (GRCm39) intron probably benign
R5416:Itgb7 UTSW 15 102,125,744 (GRCm39) missense probably benign 0.00
R5652:Itgb7 UTSW 15 102,124,638 (GRCm39) missense possibly damaging 0.48
R6089:Itgb7 UTSW 15 102,125,721 (GRCm39) missense probably benign 0.00
R6144:Itgb7 UTSW 15 102,131,917 (GRCm39) missense probably benign 0.45
R6384:Itgb7 UTSW 15 102,132,886 (GRCm39) missense probably benign 0.04
R6754:Itgb7 UTSW 15 102,124,595 (GRCm39) makesense probably null
R6857:Itgb7 UTSW 15 102,131,900 (GRCm39) missense probably damaging 1.00
R7394:Itgb7 UTSW 15 102,127,689 (GRCm39) missense probably damaging 1.00
R7747:Itgb7 UTSW 15 102,125,039 (GRCm39) missense possibly damaging 0.88
R8014:Itgb7 UTSW 15 102,131,087 (GRCm39) missense probably damaging 1.00
R8446:Itgb7 UTSW 15 102,127,043 (GRCm39) missense probably damaging 1.00
R8523:Itgb7 UTSW 15 102,124,957 (GRCm39) missense probably damaging 0.99
R8962:Itgb7 UTSW 15 102,127,037 (GRCm39) missense probably damaging 1.00
R9051:Itgb7 UTSW 15 102,126,359 (GRCm39) missense possibly damaging 0.88
R9074:Itgb7 UTSW 15 102,132,797 (GRCm39) missense
R9105:Itgb7 UTSW 15 102,135,904 (GRCm39) missense probably damaging 1.00
R9369:Itgb7 UTSW 15 102,131,821 (GRCm39) missense probably damaging 1.00
R9378:Itgb7 UTSW 15 102,135,831 (GRCm39) critical splice donor site probably null
R9467:Itgb7 UTSW 15 102,131,989 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- ATCTTTGCCTGACAGACGCTG -3'
(R):5'- GAGCAGCAGCAACTCAACTG -3'

Sequencing Primer
(F):5'- TGACAGACGCTGCCCTG -3'
(R):5'- CAACTCAACTGGAAGCAGGTG -3'
Posted On 2018-05-21