Incidental Mutation 'R2570:Itgal'
ID 252368
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 040428-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.143) question?
Stock # R2570 (G1)
Quality Score 225
Status Not validated
Chromosome 7
Chromosomal Location 126895432-126934310 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 126913268 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Leucine at position 622 (F622L)
Ref Sequence ENSEMBL: ENSMUSP00000113396 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000106306] [ENSMUST00000117762] [ENSMUST00000118405] [ENSMUST00000120857] [ENSMUST00000170971]
AlphaFold P24063
Predicted Effect probably damaging
Transcript: ENSMUST00000106306
AA Change: F622L

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000101913
Gene: ENSMUSG00000030830
AA Change: F622L

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 damaging
Transcript: ENSMUST00000117762
AA Change: F622L

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000113946
Gene: ENSMUSG00000030830
AA Change: F622L

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 damaging
Transcript: ENSMUST00000118405
AA Change: F226L

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000112591
Gene: ENSMUSG00000030830
AA Change: F226L

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 damaging
Transcript: ENSMUST00000120857
AA Change: F622L

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000113396
Gene: ENSMUSG00000030830
AA Change: F622L

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 damaging
Transcript: ENSMUST00000170971
AA Change: F622L

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000131847
Gene: ENSMUSG00000030830
AA Change: F622L

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
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 94.9%
Validation Efficiency
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: 68 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acad10 T A 5: 121,768,267 (GRCm39) N763I probably damaging Het
Actr8 T C 14: 29,709,239 (GRCm39) V281A probably damaging Het
Adam1b A T 5: 121,639,811 (GRCm39) N411K probably damaging Het
Adamdec1 T A 14: 68,816,657 (GRCm39) Q77L probably damaging Het
Adgre4 T A 17: 56,085,878 (GRCm39) F59Y possibly damaging Het
Akr1c18 T C 13: 4,192,163 (GRCm39) N178S probably benign Het
Aldh1a7 T A 19: 20,677,320 (GRCm39) T434S probably benign Het
Bcl10 T A 3: 145,638,785 (GRCm39) N142K probably benign Het
C1qc T C 4: 136,617,402 (GRCm39) I231M probably benign Het
Cacna1b A T 2: 24,496,649 (GRCm39) L2307* probably null Het
Cadm2 G A 16: 66,612,271 (GRCm39) S106L probably damaging Het
Cdc42bpa G A 1: 179,977,742 (GRCm39) R1518Q possibly damaging Het
Cdk12 T G 11: 98,094,618 (GRCm39) M142R possibly damaging Het
Csmd3 CCTTTGCGCTT CCTT 15: 47,604,632 (GRCm39) probably null Het
Cspg4b C T 13: 113,455,121 (GRCm39) T389I probably benign Het
Cyp2c50 C G 19: 40,078,764 (GRCm39) H90D probably benign Het
Dach1 A G 14: 98,138,847 (GRCm39) M480T probably benign Het
Dennd1a A T 2: 37,734,795 (GRCm39) F57L probably damaging Het
Dhcr24 T C 4: 106,443,029 (GRCm39) F355L probably benign Het
Drc1 A G 5: 30,512,609 (GRCm39) R339G probably damaging Het
Efcab3 T A 11: 104,624,490 (GRCm39) S840R probably damaging Het
Efna5 A T 17: 63,188,023 (GRCm39) Y35N probably benign Het
Ehmt1 A G 2: 24,705,753 (GRCm39) V811A probably damaging Het
Fam135a A T 1: 24,061,045 (GRCm39) V1114E probably damaging Het
Frmd8 C A 19: 5,924,740 (GRCm39) R28L probably damaging Het
Gm9936 A G 5: 114,995,605 (GRCm39) probably benign Het
Hgsnat C T 8: 26,435,280 (GRCm39) W618* probably null Het
Kalrn C T 16: 34,130,865 (GRCm39) E451K probably damaging Het
Kat2a A T 11: 100,601,648 (GRCm39) F256I probably damaging Het
Lama4 A T 10: 38,951,354 (GRCm39) D1033V possibly damaging Het
Lama4 T A 10: 38,982,043 (GRCm39) D1757E probably damaging Het
Laptm5 T C 4: 130,659,358 (GRCm39) Y212H probably damaging Het
Lsm10 T C 4: 125,991,716 (GRCm39) L24P probably damaging Het
Mtcl3 A T 10: 29,022,761 (GRCm39) Q36L possibly damaging Het
Mtfp1 T C 11: 4,044,504 (GRCm39) E27G probably damaging Het
Ncaph2 C A 15: 89,254,678 (GRCm39) D399E probably benign Het
Ncor2 T C 5: 125,105,864 (GRCm39) probably null Het
Nek9 A C 12: 85,379,320 (GRCm39) Y195* probably null Het
Npas1 T C 7: 16,208,628 (GRCm39) D83G probably damaging Het
Nrsn2 A T 2: 152,211,741 (GRCm39) F97I possibly damaging Het
Oas1c T C 5: 120,943,503 (GRCm39) N10S probably benign Het
Or2ag12 A G 7: 106,276,874 (GRCm39) I273T probably benign Het
Or55b10 T C 7: 102,143,106 (GRCm39) N292S probably damaging Het
Or7e165 T A 9: 19,695,305 (GRCm39) L292Q probably damaging Het
Pcdha4 A T 18: 37,086,665 (GRCm39) T283S probably benign Het
Pdk1 A C 2: 71,703,904 (GRCm39) D64A possibly damaging Het
Pramel17 T C 4: 101,694,443 (GRCm39) T147A probably benign Het
Ptpdc1 C T 13: 48,739,539 (GRCm39) A631T probably benign Het
Rasal2 G T 1: 156,988,870 (GRCm39) A660E possibly damaging Het
Sgpp2 T A 1: 78,336,787 (GRCm39) V55E possibly damaging Het
Shank2 A T 7: 143,622,507 (GRCm39) I214F probably damaging Het
Slfn14 T C 11: 83,174,433 (GRCm39) N186S probably benign Het
Sptbn5 A T 2: 119,879,121 (GRCm39) noncoding transcript Het
Stradb C T 1: 59,027,743 (GRCm39) T91I probably damaging Het
Sulf2 T C 2: 165,927,721 (GRCm39) I359V probably benign Het
Tbl3 A T 17: 24,922,290 (GRCm39) M405K possibly damaging Het
Tecta G T 9: 42,243,848 (GRCm39) D2001E probably damaging Het
Tectb C G 19: 55,169,431 (GRCm39) probably benign Het
Tgfbi T A 13: 56,786,521 (GRCm39) probably null Het
Tmem132a A T 19: 10,837,106 (GRCm39) L612Q probably null Het
Tnf T C 17: 35,419,476 (GRCm39) N102S probably damaging Het
Trib3 A T 2: 152,185,156 (GRCm39) V31D probably benign Het
Ube2q2 T A 9: 55,099,140 (GRCm39) F248L probably benign Het
Usf3 T C 16: 44,036,744 (GRCm39) V408A probably benign Het
Vmn1r159 T C 7: 22,542,307 (GRCm39) M242V probably benign Het
Vmn2r105 A T 17: 20,447,585 (GRCm39) L413H probably damaging Het
Zbtb2 T G 10: 4,318,673 (GRCm39) N451T probably damaging Het
Zfp593 C A 4: 133,972,869 (GRCm39) probably benign 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
R2276:Itgal UTSW 7 126,927,919 (GRCm39) missense probably null 0.89
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'- TACTTGAGAGTCAGGGAAGCCC -3'
(R):5'- TAGCTGAGGTTGGCAAGCAG -3'

Sequencing Primer
(F):5'- GGAAGCCCTAATTGTCACTGCTG -3'
(R):5'- GAGACCCTCCCCATGCTG -3'
Posted On 2014-12-04