Incidental Mutation 'R9355:Itgae'
ID 708363
Institutional Source Beutler Lab
Gene Symbol Itgae
Ensembl Gene ENSMUSG00000005947
Gene Name integrin alpha E, epithelial-associated
Synonyms alpha-E1, CD103
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R9355 (G1)
Quality Score 175.009
Status Not validated
Chromosome 11
Chromosomal Location 72981409-73038272 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 73006906 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glycine to Aspartic acid at position 384 (G384D)
Ref Sequence ENSEMBL: ENSMUSP00000006101 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000006101] [ENSMUST00000102537]
AlphaFold Q60677
Predicted Effect probably damaging
Transcript: ENSMUST00000006101
AA Change: G384D

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000006101
Gene: ENSMUSG00000005947
AA Change: G384D

DomainStartEndE-ValueType
signal peptide 1 19 N/A INTRINSIC
Blast:Int_alpha 36 118 1e-24 BLAST
VWA 193 380 1.13e-39 SMART
Int_alpha 448 496 1.49e-3 SMART
Int_alpha 502 559 6.83e-12 SMART
Int_alpha 565 626 1.79e-15 SMART
Int_alpha 633 685 6.29e0 SMART
transmembrane domain 1115 1137 N/A INTRINSIC
Pfam:Integrin_alpha 1138 1152 1.1e-6 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000102537
AA Change: G384D

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000099596
Gene: ENSMUSG00000005947
AA Change: G384D

DomainStartEndE-ValueType
signal peptide 1 19 N/A INTRINSIC
Blast:Int_alpha 36 118 5e-25 BLAST
VWA 193 380 1.13e-39 SMART
Int_alpha 448 496 1.49e-3 SMART
Int_alpha 502 559 6.83e-12 SMART
Int_alpha 565 626 1.79e-15 SMART
Int_alpha 633 685 6.29e0 SMART
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 98.9%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Integrins are heterodimeric integral membrane proteins composed of an alpha chain and a beta chain. This gene encodes an I-domain-containing alpha integrin that undergoes post-translational cleavage in the extracellular domain, yielding disulfide-linked heavy and light chains. In combination with the beta 7 integrin, this protein forms the E-cadherin binding integrin known as the human mucosal lymphocyte-1 antigen. This protein is preferentially expressed in human intestinal intraepithelial lymphocytes (IEL), and in addition to a role in adhesion, it may serve as an accessory molecule for IEL activation. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygotes for a targeted null mutation exhibit reductions in the numbers of intestinal and vaginal intraepithelial lymphocytes and of T lymphocytes of the lamina propria. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 84 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ano9 A G 7: 140,681,817 (GRCm39) V747A probably benign Het
Arfgef1 G A 1: 10,270,000 (GRCm39) P383L probably benign Het
Arhgef4 A G 1: 34,849,630 (GRCm39) E407G probably benign Het
Astn1 C T 1: 158,511,721 (GRCm39) L1188F probably damaging Het
Atg2b G A 12: 105,636,980 (GRCm39) P179S possibly damaging Het
Bcl9l G A 9: 44,419,000 (GRCm39) R983H probably benign Het
Bmp2k T A 5: 97,211,366 (GRCm39) Y511* probably null Het
C1galt1 G T 6: 7,866,474 (GRCm39) V107F probably damaging Het
Car3 T A 3: 14,928,664 (GRCm39) N11K Het
Ccdc170 A G 10: 4,508,695 (GRCm39) R640G probably benign Het
Cep126 A G 9: 8,100,038 (GRCm39) V832A possibly damaging Het
Ces1h C T 8: 94,101,149 (GRCm39) V49I Het
Clasp2 T A 9: 113,664,309 (GRCm39) V310D probably damaging Het
Comp C T 8: 70,828,699 (GRCm39) T177M probably benign Het
Coro1c T C 5: 114,003,726 (GRCm39) S98G probably damaging Het
Cpa6 C T 1: 10,479,520 (GRCm39) V238I probably benign Het
Crebrf T C 17: 26,962,094 (GRCm39) F397S probably damaging Het
Dcpp1 C A 17: 24,099,987 (GRCm39) Q3K possibly damaging Het
Dzip1l A G 9: 99,543,144 (GRCm39) D533G possibly damaging Het
Ecpas A T 4: 58,844,114 (GRCm39) S551T probably benign Het
Epha5 T C 5: 84,253,890 (GRCm39) E524G probably damaging Het
Epha7 A G 4: 28,935,806 (GRCm39) Y476C probably damaging Het
Erich5 G T 15: 34,471,001 (GRCm39) V77F probably damaging Het
Fat4 A G 3: 39,036,047 (GRCm39) Y3233C probably damaging Het
Ggt1 T A 10: 75,421,716 (GRCm39) V521E probably benign Het
Gm5431 A G 11: 48,785,275 (GRCm39) Y89H probably damaging Het
Gm5624 A T 14: 44,799,272 (GRCm39) L95* probably null Het
Gphn A G 12: 78,538,968 (GRCm39) T205A probably damaging Het
Grik5 C A 7: 24,767,597 (GRCm39) A28S possibly damaging Het
H2-K2 A G 17: 34,216,120 (GRCm39) S300P probably benign Het
H2-Oa T C 17: 34,313,723 (GRCm39) L227P possibly damaging Het
Hhip T C 8: 80,778,233 (GRCm39) N99S probably damaging Het
Hmcn2 A T 2: 31,328,302 (GRCm39) M4328L probably benign Het
Htt A T 5: 35,053,247 (GRCm39) M2527L probably benign Het
Impdh2 A T 9: 108,442,402 (GRCm39) H466L probably benign Het
Krt90 T C 15: 101,461,714 (GRCm39) S496G unknown Het
Krtap5-5 A G 7: 141,783,114 (GRCm39) S179P unknown Het
Lif C T 11: 4,219,044 (GRCm39) R63W probably damaging Het
Lrrc10 T C 10: 116,881,881 (GRCm39) V185A probably damaging Het
Lrrc27 A C 7: 138,822,648 (GRCm39) Q513P probably damaging Het
Ltbp2 G A 12: 84,837,864 (GRCm39) P1192L probably benign Het
Map2k3 T C 11: 60,823,055 (GRCm39) S3P possibly damaging Het
Mc2r T C 18: 68,541,195 (GRCm39) T33A probably benign Het
Mefv T A 16: 3,525,882 (GRCm39) D795V probably damaging Het
Megf6 A T 4: 154,338,282 (GRCm39) R451W probably damaging Het
Mrpl21 G A 19: 3,336,937 (GRCm39) V103M probably damaging Het
Mtmr14 GCCGCCGCCTCGGCGGGTTCCACCGCCTCGTCGGGCAGCCCGCCGCCTC GCCGCCGCCTC 6: 113,214,948 (GRCm39) probably null Het
Myom1 T C 17: 71,384,888 (GRCm39) S760P probably damaging Het
Ndst4 A G 3: 125,403,246 (GRCm39) Y451C probably damaging Het
Nkain4 T C 2: 180,577,775 (GRCm39) N193S possibly damaging Het
Opa1 T A 16: 29,432,807 (GRCm39) L490H probably damaging Het
Opcml A C 9: 28,814,650 (GRCm39) I301L probably benign Het
Or10ak16 G A 4: 118,750,784 (GRCm39) S168N probably benign Het
Or1e33 A G 11: 73,738,643 (GRCm39) F103L probably damaging Het
Or4p23 A T 2: 88,576,749 (GRCm39) I161N probably damaging Het
Or52s19 T C 7: 103,008,125 (GRCm39) H92R probably benign Het
Pabpc1l T C 2: 163,884,469 (GRCm39) L402P probably benign Het
Palld C T 8: 61,969,691 (GRCm39) R1211H unknown Het
Peak1 G T 9: 56,167,454 (GRCm39) A158E probably damaging Het
Ppfibp2 C T 7: 107,322,169 (GRCm39) P406L probably benign Het
Qpctl T C 7: 18,875,146 (GRCm39) H362R probably damaging Het
Ripor2 A G 13: 24,885,694 (GRCm39) H643R probably benign Het
Scn11a A T 9: 119,584,160 (GRCm39) L1485Q probably damaging Het
Scn2a A T 2: 65,594,433 (GRCm39) I1761F probably damaging Het
Scrn3 A G 2: 73,166,077 (GRCm39) D370G probably benign Het
Sec24b A T 3: 129,787,489 (GRCm39) F877Y possibly damaging Het
Slc35f3 T C 8: 127,108,967 (GRCm39) I172T probably damaging Het
Smc3 T C 19: 53,622,544 (GRCm39) probably null Het
Smpd3 C T 8: 106,991,825 (GRCm39) V243M probably damaging Het
Sos1 T A 17: 80,722,479 (GRCm39) I856F possibly damaging Het
Sp2 A T 11: 96,852,231 (GRCm39) L231H possibly damaging Het
Syne1 T C 10: 5,318,255 (GRCm39) Y457C probably damaging Het
Tdpoz6 T C 3: 93,600,307 (GRCm39) T21A possibly damaging Het
Tekt5 T C 16: 10,213,268 (GRCm39) T6A possibly damaging Het
Tln2 G T 9: 67,262,529 (GRCm39) T574K possibly damaging Het
Tmem161a T C 8: 70,633,821 (GRCm39) S313P probably damaging Het
Trmt12 G A 15: 58,744,824 (GRCm39) C74Y probably damaging Het
Trpc6 A G 9: 8,649,473 (GRCm39) D561G probably benign Het
Ttn A G 2: 76,700,769 (GRCm39) V62A Het
Tubgcp5 T C 7: 55,467,177 (GRCm39) probably null Het
Unc13a C T 8: 72,098,375 (GRCm39) V1137M possibly damaging Het
Zfp729a A G 13: 67,767,515 (GRCm39) C905R probably damaging Het
Zfp735 A G 11: 73,602,362 (GRCm39) I435M probably benign Het
Zswim4 C A 8: 84,955,687 (GRCm39) G271W probably damaging Het
Other mutations in Itgae
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00424:Itgae APN 11 73,036,461 (GRCm39) missense probably benign 0.17
IGL00472:Itgae APN 11 73,004,520 (GRCm39) missense probably benign 0.06
IGL00821:Itgae APN 11 73,013,974 (GRCm39) missense probably damaging 1.00
IGL01625:Itgae APN 11 73,010,263 (GRCm39) missense probably benign 0.00
IGL01639:Itgae APN 11 73,010,204 (GRCm39) missense probably benign 0.00
IGL01743:Itgae APN 11 73,002,585 (GRCm39) missense probably benign 0.02
IGL01911:Itgae APN 11 73,006,963 (GRCm39) missense probably damaging 1.00
IGL01949:Itgae APN 11 73,009,010 (GRCm39) missense probably benign 0.29
IGL02149:Itgae APN 11 72,994,720 (GRCm39) missense probably benign 0.04
IGL02179:Itgae APN 11 73,024,844 (GRCm39) missense probably benign 0.06
IGL02231:Itgae APN 11 72,981,448 (GRCm39) missense possibly damaging 0.88
IGL02292:Itgae APN 11 73,009,361 (GRCm39) missense probably damaging 0.98
IGL02378:Itgae APN 11 73,008,947 (GRCm39) missense probably benign 0.00
IGL02525:Itgae APN 11 73,021,777 (GRCm39) missense probably damaging 0.98
IGL02576:Itgae APN 11 73,009,331 (GRCm39) missense possibly damaging 0.95
IGL02729:Itgae APN 11 73,009,029 (GRCm39) splice site probably benign
IGL02859:Itgae APN 11 73,005,693 (GRCm39) missense probably damaging 1.00
IGL03074:Itgae APN 11 73,016,136 (GRCm39) missense probably benign 0.00
IGL03107:Itgae APN 11 73,004,427 (GRCm39) missense probably damaging 1.00
IGL03264:Itgae APN 11 73,006,400 (GRCm39) missense possibly damaging 0.73
IGL03272:Itgae APN 11 73,024,680 (GRCm39) splice site probably null
IGL03352:Itgae APN 11 73,022,556 (GRCm39) missense probably damaging 1.00
R0134:Itgae UTSW 11 73,002,168 (GRCm39) missense probably benign 0.00
R0225:Itgae UTSW 11 73,002,168 (GRCm39) missense probably benign 0.00
R0320:Itgae UTSW 11 73,021,825 (GRCm39) missense possibly damaging 0.74
R0344:Itgae UTSW 11 73,008,973 (GRCm39) missense probably benign 0.13
R0403:Itgae UTSW 11 73,014,009 (GRCm39) missense possibly damaging 0.89
R0631:Itgae UTSW 11 73,005,733 (GRCm39) missense probably damaging 1.00
R0833:Itgae UTSW 11 73,020,032 (GRCm39) missense probably benign 0.02
R0836:Itgae UTSW 11 73,020,032 (GRCm39) missense probably benign 0.02
R0973:Itgae UTSW 11 73,029,335 (GRCm39) nonsense probably null
R1231:Itgae UTSW 11 73,010,205 (GRCm39) missense probably benign 0.02
R1389:Itgae UTSW 11 73,016,188 (GRCm39) missense probably damaging 1.00
R1433:Itgae UTSW 11 73,006,418 (GRCm39) missense probably damaging 1.00
R1534:Itgae UTSW 11 73,036,431 (GRCm39) missense possibly damaging 0.58
R1833:Itgae UTSW 11 73,007,988 (GRCm39) missense possibly damaging 0.94
R1914:Itgae UTSW 11 73,009,469 (GRCm39) splice site probably benign
R1915:Itgae UTSW 11 73,009,469 (GRCm39) splice site probably benign
R2061:Itgae UTSW 11 73,009,448 (GRCm39) missense probably benign 0.00
R2380:Itgae UTSW 11 73,036,395 (GRCm39) missense probably benign 0.00
R2435:Itgae UTSW 11 73,012,763 (GRCm39) nonsense probably null
R2680:Itgae UTSW 11 73,005,752 (GRCm39) missense probably damaging 1.00
R2886:Itgae UTSW 11 73,031,513 (GRCm39) missense probably benign 0.04
R3873:Itgae UTSW 11 73,004,442 (GRCm39) missense probably damaging 1.00
R3923:Itgae UTSW 11 73,006,969 (GRCm39) missense probably damaging 0.99
R4010:Itgae UTSW 11 73,002,165 (GRCm39) missense probably benign 0.00
R4059:Itgae UTSW 11 73,002,960 (GRCm39) missense probably benign
R4212:Itgae UTSW 11 73,010,178 (GRCm39) missense probably benign
R4213:Itgae UTSW 11 73,010,178 (GRCm39) missense probably benign
R4691:Itgae UTSW 11 73,010,345 (GRCm39) nonsense probably null
R4736:Itgae UTSW 11 73,005,706 (GRCm39) missense possibly damaging 0.79
R5152:Itgae UTSW 11 73,021,821 (GRCm39) missense probably damaging 1.00
R5201:Itgae UTSW 11 73,001,382 (GRCm39) missense probably benign 0.00
R5307:Itgae UTSW 11 73,036,464 (GRCm39) missense probably benign 0.00
R5362:Itgae UTSW 11 73,002,675 (GRCm39) missense probably damaging 1.00
R5448:Itgae UTSW 11 73,024,734 (GRCm39) critical splice donor site probably null
R5645:Itgae UTSW 11 73,020,074 (GRCm39) missense probably damaging 1.00
R5672:Itgae UTSW 11 73,036,377 (GRCm39) missense possibly damaging 0.96
R6079:Itgae UTSW 11 73,006,400 (GRCm39) missense possibly damaging 0.73
R6138:Itgae UTSW 11 73,006,400 (GRCm39) missense possibly damaging 0.73
R6226:Itgae UTSW 11 73,031,583 (GRCm39) missense probably benign 0.11
R6244:Itgae UTSW 11 73,036,427 (GRCm39) missense probably damaging 0.96
R6326:Itgae UTSW 11 73,022,519 (GRCm39) missense possibly damaging 0.88
R6332:Itgae UTSW 11 73,002,228 (GRCm39) splice site probably null
R6502:Itgae UTSW 11 73,036,418 (GRCm39) missense probably benign 0.10
R6825:Itgae UTSW 11 73,009,322 (GRCm39) missense possibly damaging 0.89
R7016:Itgae UTSW 11 73,010,342 (GRCm39) missense probably damaging 0.99
R7020:Itgae UTSW 11 73,002,195 (GRCm39) missense probably damaging 1.00
R7069:Itgae UTSW 11 73,006,969 (GRCm39) missense probably damaging 0.99
R7132:Itgae UTSW 11 73,002,184 (GRCm39) missense possibly damaging 0.93
R7473:Itgae UTSW 11 73,031,504 (GRCm39) missense possibly damaging 0.87
R7599:Itgae UTSW 11 73,012,786 (GRCm39) missense possibly damaging 0.62
R7637:Itgae UTSW 11 73,004,457 (GRCm39) missense probably damaging 1.00
R7763:Itgae UTSW 11 73,014,095 (GRCm39) critical splice donor site probably null
R7829:Itgae UTSW 11 73,029,618 (GRCm39) missense probably benign
R7860:Itgae UTSW 11 73,011,099 (GRCm39) critical splice acceptor site probably null
R7978:Itgae UTSW 11 73,024,913 (GRCm39) missense probably damaging 0.98
R8197:Itgae UTSW 11 73,011,210 (GRCm39) missense probably benign
R8911:Itgae UTSW 11 73,004,447 (GRCm39) missense probably damaging 1.00
R9155:Itgae UTSW 11 73,016,089 (GRCm39) missense possibly damaging 0.94
R9284:Itgae UTSW 11 73,012,752 (GRCm39) missense probably benign 0.25
R9414:Itgae UTSW 11 73,002,629 (GRCm39) missense possibly damaging 0.59
R9595:Itgae UTSW 11 73,016,182 (GRCm39) missense probably damaging 0.99
R9618:Itgae UTSW 11 73,011,171 (GRCm39) missense possibly damaging 0.78
U15987:Itgae UTSW 11 73,006,400 (GRCm39) missense possibly damaging 0.73
X0024:Itgae UTSW 11 73,002,202 (GRCm39) missense probably benign 0.01
Z1186:Itgae UTSW 11 72,994,713 (GRCm39) missense possibly damaging 0.74
Z1186:Itgae UTSW 11 73,024,953 (GRCm39) missense probably benign 0.36
Z1186:Itgae UTSW 11 73,012,783 (GRCm39) missense probably benign 0.00
Z1186:Itgae UTSW 11 73,012,757 (GRCm39) missense probably benign 0.00
Z1186:Itgae UTSW 11 73,008,913 (GRCm39) missense probably benign 0.01
Z1186:Itgae UTSW 11 73,006,466 (GRCm39) missense probably benign
Z1186:Itgae UTSW 11 72,994,786 (GRCm39) missense probably damaging 1.00
Z1187:Itgae UTSW 11 72,994,713 (GRCm39) missense possibly damaging 0.74
Z1187:Itgae UTSW 11 72,994,786 (GRCm39) missense probably damaging 1.00
Z1187:Itgae UTSW 11 73,006,466 (GRCm39) missense probably benign
Z1187:Itgae UTSW 11 73,008,913 (GRCm39) missense probably benign 0.01
Z1187:Itgae UTSW 11 73,012,757 (GRCm39) missense probably benign 0.00
Z1187:Itgae UTSW 11 73,012,783 (GRCm39) missense probably benign 0.00
Z1187:Itgae UTSW 11 73,024,953 (GRCm39) missense probably benign 0.36
Z1188:Itgae UTSW 11 72,994,713 (GRCm39) missense possibly damaging 0.74
Z1188:Itgae UTSW 11 73,024,953 (GRCm39) missense probably benign 0.36
Z1188:Itgae UTSW 11 73,012,783 (GRCm39) missense probably benign 0.00
Z1188:Itgae UTSW 11 73,012,757 (GRCm39) missense probably benign 0.00
Z1188:Itgae UTSW 11 73,008,913 (GRCm39) missense probably benign 0.01
Z1188:Itgae UTSW 11 73,006,466 (GRCm39) missense probably benign
Z1188:Itgae UTSW 11 72,994,786 (GRCm39) missense probably damaging 1.00
Z1189:Itgae UTSW 11 72,994,713 (GRCm39) missense possibly damaging 0.74
Z1189:Itgae UTSW 11 73,024,953 (GRCm39) missense probably benign 0.36
Z1189:Itgae UTSW 11 73,012,783 (GRCm39) missense probably benign 0.00
Z1189:Itgae UTSW 11 73,012,757 (GRCm39) missense probably benign 0.00
Z1189:Itgae UTSW 11 73,008,913 (GRCm39) missense probably benign 0.01
Z1189:Itgae UTSW 11 73,006,466 (GRCm39) missense probably benign
Z1189:Itgae UTSW 11 72,994,786 (GRCm39) missense probably damaging 1.00
Z1190:Itgae UTSW 11 73,024,953 (GRCm39) missense probably benign 0.36
Z1190:Itgae UTSW 11 73,012,783 (GRCm39) missense probably benign 0.00
Z1190:Itgae UTSW 11 73,012,757 (GRCm39) missense probably benign 0.00
Z1190:Itgae UTSW 11 73,008,913 (GRCm39) missense probably benign 0.01
Z1190:Itgae UTSW 11 73,006,466 (GRCm39) missense probably benign
Z1190:Itgae UTSW 11 72,994,786 (GRCm39) missense probably damaging 1.00
Z1190:Itgae UTSW 11 72,994,713 (GRCm39) missense possibly damaging 0.74
Z1191:Itgae UTSW 11 73,024,953 (GRCm39) missense probably benign 0.36
Z1191:Itgae UTSW 11 73,012,783 (GRCm39) missense probably benign 0.00
Z1191:Itgae UTSW 11 73,012,757 (GRCm39) missense probably benign 0.00
Z1191:Itgae UTSW 11 73,008,913 (GRCm39) missense probably benign 0.01
Z1191:Itgae UTSW 11 73,006,466 (GRCm39) missense probably benign
Z1191:Itgae UTSW 11 72,994,786 (GRCm39) missense probably damaging 1.00
Z1191:Itgae UTSW 11 72,994,713 (GRCm39) missense possibly damaging 0.74
Z1192:Itgae UTSW 11 73,012,783 (GRCm39) missense probably benign 0.00
Z1192:Itgae UTSW 11 73,012,757 (GRCm39) missense probably benign 0.00
Z1192:Itgae UTSW 11 73,008,913 (GRCm39) missense probably benign 0.01
Z1192:Itgae UTSW 11 73,006,466 (GRCm39) missense probably benign
Z1192:Itgae UTSW 11 72,994,786 (GRCm39) missense probably damaging 1.00
Z1192:Itgae UTSW 11 72,994,713 (GRCm39) missense possibly damaging 0.74
Z1192:Itgae UTSW 11 73,024,953 (GRCm39) missense probably benign 0.36
Predicted Primers PCR Primer
(F):5'- TGACTCTATGAAGCTCTGCTGAG -3'
(R):5'- TCTATCTCGGTGGTCCAGACTG -3'

Sequencing Primer
(F):5'- CCAGGCAGACAACGTGATCTG -3'
(R):5'- ACTGGGGAAGCTAGGCTC -3'
Posted On 2022-04-18