Incidental Mutation 'R2276:Itgal'
ID 242809
Institutional Source Beutler Lab
Gene Symbol Itgal
Ensembl Gene ENSMUSG00000030830
Gene Name integrin alpha L
Synonyms Ly-21, Ly-15, Cd11a, LFA-1
MMRRC Submission 040275-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.143) question?
Stock # R2276 (G1)
Quality Score 225
Status Validated
Chromosome 7
Chromosomal Location 126895432-126934310 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 126927919 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Valine at position 1038 (E1038V)
Ref Sequence ENSEMBL: ENSMUSP00000113396 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000106306] [ENSMUST00000117762] [ENSMUST00000118405] [ENSMUST00000120857] [ENSMUST00000170971]
AlphaFold P24063
Predicted Effect probably null
Transcript: ENSMUST00000106306
AA Change: E1039V

PolyPhen 2 Score 0.814 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000101913
Gene: ENSMUSG00000030830
AA Change: E1039V

DomainStartEndE-ValueType
signal peptide 1 23 N/A INTRINSIC
Int_alpha 38 81 5.01e0 SMART
VWA 151 327 2.68e-32 SMART
Int_alpha 398 450 1.27e-6 SMART
Int_alpha 454 509 9.6e-7 SMART
Int_alpha 515 568 3.58e-15 SMART
Int_alpha 575 624 1.28e1 SMART
low complexity region 1043 1059 N/A INTRINSIC
transmembrane domain 1087 1109 N/A INTRINSIC
Pfam:Integrin_alpha 1110 1124 5.8e-7 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000117762
AA Change: E1038V

PolyPhen 2 Score 0.814 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000113946
Gene: ENSMUSG00000030830
AA Change: E1038V

DomainStartEndE-ValueType
signal peptide 1 23 N/A INTRINSIC
Int_alpha 38 81 5.01e0 SMART
VWA 151 327 2.68e-32 SMART
Int_alpha 398 450 1.27e-6 SMART
Int_alpha 454 509 9.6e-7 SMART
Int_alpha 515 568 3.58e-15 SMART
Int_alpha 575 624 1.28e1 SMART
low complexity region 1042 1058 N/A INTRINSIC
transmembrane domain 1086 1108 N/A INTRINSIC
Pfam:Integrin_alpha 1109 1123 5.8e-7 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000118405
AA Change: E642V

PolyPhen 2 Score 0.814 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000112591
Gene: ENSMUSG00000030830
AA Change: E642V

DomainStartEndE-ValueType
Int_alpha 2 54 4.21e-3 SMART
Int_alpha 58 113 9.6e-7 SMART
Int_alpha 119 172 3.58e-15 SMART
Int_alpha 179 228 1.28e1 SMART
low complexity region 646 662 N/A INTRINSIC
transmembrane domain 690 712 N/A INTRINSIC
Pfam:Integrin_alpha 713 727 2.1e-7 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000120857
AA Change: E1038V

PolyPhen 2 Score 0.886 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000113396
Gene: ENSMUSG00000030830
AA Change: E1038V

DomainStartEndE-ValueType
signal peptide 1 23 N/A INTRINSIC
Int_alpha 38 81 5.01e0 SMART
VWA 151 327 2.68e-32 SMART
Int_alpha 398 450 1.27e-6 SMART
Int_alpha 454 509 9.6e-7 SMART
Int_alpha 515 568 3.58e-15 SMART
Int_alpha 575 624 1.28e1 SMART
low complexity region 1042 1058 N/A INTRINSIC
transmembrane domain 1086 1108 N/A INTRINSIC
Predicted Effect probably null
Transcript: ENSMUST00000170971
AA Change: E1038V

PolyPhen 2 Score 0.814 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000131847
Gene: ENSMUSG00000030830
AA Change: E1038V

DomainStartEndE-ValueType
signal peptide 1 23 N/A INTRINSIC
Int_alpha 38 81 5.01e0 SMART
VWA 151 327 2.68e-32 SMART
Int_alpha 398 450 1.27e-6 SMART
Int_alpha 454 509 9.6e-7 SMART
Int_alpha 515 568 3.58e-15 SMART
Int_alpha 575 624 1.28e1 SMART
low complexity region 1042 1058 N/A INTRINSIC
transmembrane domain 1086 1108 N/A INTRINSIC
Pfam:Integrin_alpha 1109 1123 1.2e-6 PFAM
Meta Mutation Damage Score 0.4820 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 94.8%
Validation Efficiency 100% (65/65)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] ITGAL encodes the integrin alpha L chain. Integrins are heterodimeric integral membrane proteins composed of an alpha chain and a beta chain. This I-domain containing alpha integrin combines with the beta 2 chain (ITGB2) to form the integrin lymphocyte function-associated antigen-1 (LFA-1), which is expressed on all leukocytes. LFA-1 plays a central role in leukocyte intercellular adhesion through interactions with its ligands, ICAMs 1-3 (intercellular adhesion molecules 1 through 3), and also functions in lymphocyte costimulatory signaling. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
PHENOTYPE: Nullizygous mutations of this gene lead to increased leukocyte cell number, alter T cell activation, leukocyte migration and adhesion, spleen and lymph node morphology, and may affect humoral immune responses, metastatic potential, and susceptibility to endotoxin shock. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 63 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Akap11 T A 14: 78,747,477 (GRCm39) I1637L possibly damaging Het
Ankrd27 T C 7: 35,315,265 (GRCm39) probably benign Het
Anxa3 T C 5: 96,978,349 (GRCm39) probably null Het
Arfgef2 G C 2: 166,707,679 (GRCm39) G1025A probably benign Het
Arhgap21 T C 2: 20,868,037 (GRCm39) I829V possibly damaging Het
Arhgap42 T C 9: 9,035,512 (GRCm39) M277V probably benign Het
Cep112 A T 11: 108,746,671 (GRCm39) R176S probably damaging Het
Chd9 C T 8: 91,760,615 (GRCm39) P2120L probably benign Het
Cnga1 C T 5: 72,776,404 (GRCm39) V20I possibly damaging Het
Cpped1 A C 16: 11,712,745 (GRCm39) probably null Het
Cr2 T C 1: 194,839,676 (GRCm39) R960G possibly damaging Het
Dbf4 T C 5: 8,471,333 (GRCm39) N36S possibly damaging Het
Dnah6 G A 6: 73,090,564 (GRCm39) S2210L probably benign Het
Dnajb12 C T 10: 59,728,799 (GRCm39) T229I probably benign Het
Dnajc28 G A 16: 91,413,755 (GRCm39) T187M probably damaging Het
Epb41l2 T C 10: 25,364,842 (GRCm39) probably benign Het
Fam178b A G 1: 36,671,539 (GRCm39) L194P probably damaging Het
Fam50b C T 13: 34,930,823 (GRCm39) Q100* probably null Het
Gimap9 A G 6: 48,654,812 (GRCm39) H133R probably benign Het
Gpbp1 A T 13: 111,603,512 (GRCm39) probably null Het
Gpr89 A G 3: 96,804,743 (GRCm39) Y38H probably damaging Het
Gsdmc3 T A 15: 63,732,105 (GRCm39) Y307F probably benign Het
H4c16 T A 6: 136,781,299 (GRCm39) I27F probably damaging Het
Hip1 C T 5: 135,485,900 (GRCm39) R101K probably damaging Het
Hsf4 G A 8: 105,996,628 (GRCm39) D18N probably null Het
Igfn1 T C 1: 135,892,479 (GRCm39) K2214E probably damaging Het
Kank2 C A 9: 21,681,080 (GRCm39) M816I probably damaging Het
Kctd15 T C 7: 34,344,366 (GRCm39) D95G possibly damaging Het
Kif1a A T 1: 92,996,199 (GRCm39) probably benign Het
Lgi4 T G 7: 30,760,037 (GRCm39) L78V probably damaging Het
Lrrc7 A G 3: 157,885,429 (GRCm39) F432L probably damaging Het
Madd A T 2: 90,974,028 (GRCm39) C1419S possibly damaging Het
Nisch T C 14: 30,898,803 (GRCm39) probably benign Het
Or2h1b A T 17: 37,462,145 (GRCm39) C239* probably null Het
Osbpl2 G A 2: 179,790,319 (GRCm39) G198S possibly damaging Het
Pclo T A 5: 14,764,287 (GRCm39) D4253E unknown Het
Phactr1 A T 13: 43,231,265 (GRCm39) S244C possibly damaging Het
Pja2 T C 17: 64,599,865 (GRCm39) S478G probably damaging Het
Prex1 A T 2: 166,419,875 (GRCm39) I79N probably benign Het
Ptpn4 T C 1: 119,612,321 (GRCm39) D24G probably damaging Het
Rars2 T C 4: 34,656,835 (GRCm39) S495P probably damaging Het
Rhebl1 A T 15: 98,776,167 (GRCm39) D162E probably benign Het
Rhou T C 8: 124,382,258 (GRCm39) V100A probably damaging Het
Rpn2 A G 2: 157,152,208 (GRCm39) T394A possibly damaging Het
Ryr3 A T 2: 112,479,664 (GRCm39) M4386K possibly damaging Het
Scmh1 G T 4: 120,340,869 (GRCm39) C185F probably damaging Het
Sema3d A T 5: 12,592,549 (GRCm39) Q326L possibly damaging Het
Sis T A 3: 72,821,934 (GRCm39) K1376* probably null Het
Slc25a29 T C 12: 108,792,852 (GRCm39) E242G probably benign Het
Slc26a5 A G 5: 22,028,545 (GRCm39) V304A probably benign Het
Slc39a7 C T 17: 34,250,241 (GRCm39) probably benign Het
Slco1a4 A G 6: 141,761,308 (GRCm39) V435A possibly damaging Het
Syne2 A G 12: 75,974,240 (GRCm39) E1146G possibly damaging Het
Tgm5 T A 2: 120,879,304 (GRCm39) probably benign Het
Tgm7 A G 2: 120,929,045 (GRCm39) S284P probably damaging Het
Tmem132d G A 5: 127,872,987 (GRCm39) R541W probably damaging Het
Tmem170 C A 8: 112,596,349 (GRCm39) V59L probably benign Het
Tpbgl G T 7: 99,275,233 (GRCm39) A208E possibly damaging Het
Ttc23l A G 15: 10,523,678 (GRCm39) I347T possibly damaging Het
Ulk1 T C 5: 110,936,028 (GRCm39) E827G probably benign Het
Vps13a A G 19: 16,687,790 (GRCm39) V886A possibly damaging Het
Wrn A T 8: 33,814,584 (GRCm39) C44S probably benign Het
Zscan22 T A 7: 12,640,750 (GRCm39) C331* probably null Het
Other mutations in Itgal
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00987:Itgal APN 7 126,901,183 (GRCm39) missense probably damaging 0.99
IGL01300:Itgal APN 7 126,913,290 (GRCm39) missense probably damaging 1.00
IGL01345:Itgal APN 7 126,900,128 (GRCm39) missense possibly damaging 0.56
IGL01826:Itgal APN 7 126,901,318 (GRCm39) missense probably benign 0.16
IGL02202:Itgal APN 7 126,929,351 (GRCm39) nonsense probably null
IGL02212:Itgal APN 7 126,900,152 (GRCm39) missense probably benign 0.00
IGL02513:Itgal APN 7 126,927,844 (GRCm39) missense possibly damaging 0.78
IGL02608:Itgal APN 7 126,909,416 (GRCm39) missense probably damaging 1.00
IGL02946:Itgal APN 7 126,913,540 (GRCm39) missense probably damaging 0.99
sunglow UTSW 7 126,927,919 (GRCm39) missense probably null 0.89
R0069:Itgal UTSW 7 126,909,503 (GRCm39) missense probably benign 0.44
R0069:Itgal UTSW 7 126,909,503 (GRCm39) missense probably benign 0.44
R0107:Itgal UTSW 7 126,927,731 (GRCm39) splice site probably benign
R0331:Itgal UTSW 7 126,905,853 (GRCm39) splice site probably null
R0350:Itgal UTSW 7 126,921,253 (GRCm39) missense probably damaging 1.00
R0380:Itgal UTSW 7 126,909,923 (GRCm39) nonsense probably null
R0537:Itgal UTSW 7 126,910,445 (GRCm39) missense possibly damaging 0.61
R0546:Itgal UTSW 7 126,909,486 (GRCm39) missense probably benign 0.00
R0594:Itgal UTSW 7 126,913,232 (GRCm39) missense probably damaging 1.00
R1167:Itgal UTSW 7 126,900,111 (GRCm39) missense probably damaging 1.00
R1377:Itgal UTSW 7 126,921,089 (GRCm39) missense probably damaging 1.00
R1575:Itgal UTSW 7 126,900,060 (GRCm39) critical splice acceptor site probably null
R1690:Itgal UTSW 7 126,901,289 (GRCm39) missense possibly damaging 0.56
R1693:Itgal UTSW 7 126,904,453 (GRCm39) missense probably damaging 1.00
R1702:Itgal UTSW 7 126,904,197 (GRCm39) missense probably benign 0.00
R1720:Itgal UTSW 7 126,906,099 (GRCm39) missense probably benign 0.00
R1774:Itgal UTSW 7 126,908,794 (GRCm39) critical splice donor site probably null
R1824:Itgal UTSW 7 126,913,232 (GRCm39) missense probably damaging 1.00
R1878:Itgal UTSW 7 126,909,843 (GRCm39) missense probably benign 0.44
R1951:Itgal UTSW 7 126,929,317 (GRCm39) missense probably damaging 1.00
R2265:Itgal UTSW 7 126,905,873 (GRCm39) missense possibly damaging 0.63
R2267:Itgal UTSW 7 126,905,873 (GRCm39) missense possibly damaging 0.63
R2269:Itgal UTSW 7 126,905,873 (GRCm39) missense possibly damaging 0.63
R2570:Itgal UTSW 7 126,913,268 (GRCm39) missense probably damaging 1.00
R3925:Itgal UTSW 7 126,923,709 (GRCm39) splice site probably benign
R4225:Itgal UTSW 7 126,904,484 (GRCm39) missense probably damaging 1.00
R4377:Itgal UTSW 7 126,927,453 (GRCm39) missense probably benign 0.00
R4466:Itgal UTSW 7 126,927,684 (GRCm39) missense possibly damaging 0.93
R4579:Itgal UTSW 7 126,904,466 (GRCm39) missense possibly damaging 0.83
R4656:Itgal UTSW 7 126,921,725 (GRCm39) missense probably damaging 1.00
R4771:Itgal UTSW 7 126,927,405 (GRCm39) missense probably damaging 1.00
R5012:Itgal UTSW 7 126,898,802 (GRCm39) critical splice donor site probably null
R5328:Itgal UTSW 7 126,910,847 (GRCm39) critical splice donor site probably null
R5365:Itgal UTSW 7 126,904,522 (GRCm39) missense probably damaging 0.98
R5579:Itgal UTSW 7 126,906,101 (GRCm39) missense probably benign 0.10
R5849:Itgal UTSW 7 126,916,492 (GRCm39) missense probably benign 0.27
R5955:Itgal UTSW 7 126,904,161 (GRCm39) missense possibly damaging 0.82
R6254:Itgal UTSW 7 126,924,375 (GRCm39) missense probably damaging 1.00
R6269:Itgal UTSW 7 126,929,389 (GRCm39) missense probably null 1.00
R6520:Itgal UTSW 7 126,929,503 (GRCm39) missense probably benign 0.01
R6541:Itgal UTSW 7 126,910,734 (GRCm39) missense probably damaging 0.99
R7049:Itgal UTSW 7 126,895,573 (GRCm39) unclassified probably benign
R7168:Itgal UTSW 7 126,929,385 (GRCm39) missense probably benign
R7419:Itgal UTSW 7 126,906,047 (GRCm39) missense probably benign 0.01
R7424:Itgal UTSW 7 126,916,537 (GRCm39) missense probably benign 0.00
R7454:Itgal UTSW 7 126,926,936 (GRCm39) missense probably benign 0.00
R7567:Itgal UTSW 7 126,898,960 (GRCm39) missense probably benign 0.00
R7696:Itgal UTSW 7 126,929,356 (GRCm39) missense probably damaging 1.00
R7977:Itgal UTSW 7 126,927,470 (GRCm39) missense possibly damaging 0.88
R7987:Itgal UTSW 7 126,927,470 (GRCm39) missense possibly damaging 0.88
R8118:Itgal UTSW 7 126,910,417 (GRCm39) missense probably benign 0.08
R8297:Itgal UTSW 7 126,929,638 (GRCm39) missense unknown
R8418:Itgal UTSW 7 126,929,454 (GRCm39) missense probably benign 0.02
R8477:Itgal UTSW 7 126,900,105 (GRCm39) missense probably damaging 1.00
R8507:Itgal UTSW 7 126,928,607 (GRCm39) missense probably benign 0.26
R8789:Itgal UTSW 7 126,904,421 (GRCm39) missense probably benign 0.05
R8838:Itgal UTSW 7 126,910,433 (GRCm39) missense probably damaging 1.00
R8881:Itgal UTSW 7 126,929,541 (GRCm39) missense probably benign 0.11
R8923:Itgal UTSW 7 126,895,533 (GRCm39) unclassified probably benign
R9070:Itgal UTSW 7 126,927,873 (GRCm39) missense probably null 0.98
R9104:Itgal UTSW 7 126,910,794 (GRCm39) missense probably damaging 1.00
R9173:Itgal UTSW 7 126,896,789 (GRCm39) critical splice acceptor site probably null
R9179:Itgal UTSW 7 126,905,883 (GRCm39) missense probably benign 0.33
R9407:Itgal UTSW 7 126,921,796 (GRCm39) critical splice donor site probably null
R9545:Itgal UTSW 7 126,929,422 (GRCm39) missense probably damaging 1.00
R9681:Itgal UTSW 7 126,929,422 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- AGTGTGTGAGCTGAGGAATC -3'
(R):5'- TGTTTTCCAGAACCAAAACCAAAGG -3'

Sequencing Primer
(F):5'- TGAGCTGAGGAATCAGGGGTG -3'
(R):5'- TTCCAGAACCAAAACCAAAGGAAAAG -3'
Posted On 2014-10-16