Incidental Mutation 'R7987:Itgal'
ID 651537
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 046028-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.143) question?
Stock # R7987 (G1)
Quality Score 225.009
Status Validated
Chromosome 7
Chromosomal Location 126895432-126934310 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 126927470 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 987 (T987A)
Ref Sequence ENSEMBL: ENSMUSP00000113396 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000106306] [ENSMUST00000117762] [ENSMUST00000118405] [ENSMUST00000120857] [ENSMUST00000170971]
AlphaFold P24063
Predicted Effect possibly damaging
Transcript: ENSMUST00000106306
AA Change: T988A

PolyPhen 2 Score 0.880 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000101913
Gene: ENSMUSG00000030830
AA Change: T988A

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 possibly damaging
Transcript: ENSMUST00000117762
AA Change: T987A

PolyPhen 2 Score 0.880 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000113946
Gene: ENSMUSG00000030830
AA Change: T987A

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 possibly damaging
Transcript: ENSMUST00000118405
AA Change: T591A

PolyPhen 2 Score 0.880 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000112591
Gene: ENSMUSG00000030830
AA Change: T591A

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 possibly damaging
Transcript: ENSMUST00000120857
AA Change: T987A

PolyPhen 2 Score 0.880 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000113396
Gene: ENSMUSG00000030830
AA Change: T987A

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 possibly damaging
Transcript: ENSMUST00000170971
AA Change: T987A

PolyPhen 2 Score 0.880 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000131847
Gene: ENSMUSG00000030830
AA Change: T987A

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 0.1712 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.9%
Validation Efficiency 96% (50/52)
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: 55 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9430097D07Rik G T 2: 32,464,317 (GRCm39) Q161K unknown Het
Acsl5 T C 19: 55,266,405 (GRCm39) probably null Het
Adgre1 T A 17: 57,754,987 (GRCm39) I695N possibly damaging Het
Ank2 T C 3: 126,739,356 (GRCm39) D2176G unknown Het
Atp6v0a2 G A 5: 124,797,050 (GRCm39) G810D probably damaging Het
Bod1l A C 5: 41,952,413 (GRCm39) N2868K probably damaging Het
Brd7 T C 8: 89,060,769 (GRCm39) T526A probably benign Het
C9 T A 15: 6,496,943 (GRCm39) Y213* probably null Het
Cacna1i G A 15: 80,204,553 (GRCm39) probably null Het
Card6 T A 15: 5,130,007 (GRCm39) N463I probably damaging Het
Ccdc81 T C 7: 89,525,319 (GRCm39) Y485C probably damaging Het
Celsr1 A G 15: 85,917,194 (GRCm39) F260L probably damaging Het
Dnah8 A G 17: 30,963,498 (GRCm39) D2304G probably damaging Het
Dnase1 A G 16: 3,855,834 (GRCm39) D55G probably damaging Het
Ecsit C A 9: 21,984,780 (GRCm39) R296L probably damaging Het
Entpd8 A G 2: 24,974,778 (GRCm39) D403G probably damaging Het
Epha2 C A 4: 141,035,791 (GRCm39) Q76K probably damaging Het
Exoc1 T A 5: 76,691,432 (GRCm39) V252E probably damaging Het
Fmnl3 T A 15: 99,225,979 (GRCm39) H225L possibly damaging Het
Gm4565 A C 7: 22,282,812 (GRCm39) M2R probably benign Het
Gpr146 G T 5: 139,378,440 (GRCm39) A81S possibly damaging Het
Heg1 C A 16: 33,541,100 (GRCm39) S419* probably null Het
Hps5 A C 7: 46,418,475 (GRCm39) I865S probably benign Het
Hsp90ab1 A C 17: 45,882,532 (GRCm39) I54S probably damaging Het
Hyal4 T G 6: 24,763,865 (GRCm39) M342R probably damaging Het
Kat6b A G 14: 21,719,931 (GRCm39) T1428A probably benign Het
Ldlrad4 G T 18: 68,368,740 (GRCm39) A66S possibly damaging Het
Lmtk2 A G 5: 144,111,959 (GRCm39) D893G probably benign Het
Mst1r A T 9: 107,789,997 (GRCm39) probably null Het
Mtus2 G T 5: 148,168,836 (GRCm39) probably null Het
Myo3b A G 2: 70,161,277 (GRCm39) T1174A probably benign Het
Nsun5 G A 5: 135,404,534 (GRCm39) R424H probably damaging Het
Oacyl A G 18: 65,831,462 (GRCm39) E33G probably benign Het
Or6c66 T C 10: 129,461,838 (GRCm39) I31V probably benign Het
Or7d10 T C 9: 19,831,610 (GRCm39) F35S possibly damaging Het
Palm C T 10: 79,629,539 (GRCm39) probably benign Het
Papln A G 12: 83,822,156 (GRCm39) E337G probably damaging Het
Pira2 A T 7: 3,844,696 (GRCm39) F445Y probably benign Het
Setd1b A G 5: 123,285,743 (GRCm39) D263G unknown Het
Slc10a7 T A 8: 79,423,843 (GRCm39) F202I probably benign Het
Smpd3 T C 8: 106,986,526 (GRCm39) I455V probably benign Het
Snip1 G T 4: 124,960,732 (GRCm39) G63W probably damaging Het
Sorl1 T A 9: 41,888,857 (GRCm39) Y1981F probably damaging Het
Tagln2 A G 1: 172,332,820 (GRCm39) T36A probably benign Het
Tnxb T C 17: 34,929,194 (GRCm39) S2746P possibly damaging Het
Tob2 G A 15: 81,735,681 (GRCm39) P96L probably damaging Het
Triobp T A 15: 78,885,744 (GRCm39) Y1816N probably damaging Het
Trpc3 A G 3: 36,698,318 (GRCm39) I647T probably benign Het
Ttn A G 2: 76,721,905 (GRCm39) S6600P unknown Het
Vmn1r200 A T 13: 22,580,025 (GRCm39) Y276F possibly damaging Het
Vmn1r230 T C 17: 21,067,159 (GRCm39) I116T probably benign Het
Vmn1r26 A T 6: 57,985,264 (GRCm39) Y308* probably null Het
Vmn2r16 C T 5: 109,488,015 (GRCm39) T296I probably damaging Het
Vmn2r50 T C 7: 9,772,016 (GRCm39) T562A probably benign Het
Wdfy2 A G 14: 63,189,380 (GRCm39) D283G possibly damaging 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
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
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'- GTCATGATGCACTGCCTAGC -3'
(R):5'- CCAGTAGATCTGAGACCACTTCC -3'

Sequencing Primer
(F):5'- AGTGCCTCAGGTCACATGG -3'
(R):5'- GTAGATCTGAGACCACTTCCTACCTC -3'
Posted On 2020-09-15