Incidental Mutation 'R8838:Itgal'
ID 674268
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 068666-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.169) question?
Stock # R8838 (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 126910433 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Cysteine at position 514 (Y514C)
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: Y514C

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000101913
Gene: ENSMUSG00000030830
AA Change: Y514C

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: Y514C

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000113946
Gene: ENSMUSG00000030830
AA Change: Y514C

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: Y118C

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000112591
Gene: ENSMUSG00000030830
AA Change: Y118C

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: Y514C

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000113396
Gene: ENSMUSG00000030830
AA Change: Y514C

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: Y514C

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000131847
Gene: ENSMUSG00000030830
AA Change: Y514C

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: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.2%
Validation Efficiency 100% (52/52)
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: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca8a T A 11: 109,920,881 (GRCm39) I1498F probably damaging Het
Aco2 T A 15: 81,796,128 (GRCm39) N508K probably damaging Het
Aff4 T C 11: 53,297,465 (GRCm39) S896P possibly damaging Het
Anapc2 T G 2: 25,163,546 (GRCm39) V261G probably benign Het
Atm A G 9: 53,427,851 (GRCm39) S420P probably damaging Het
Bag6 C T 17: 35,363,367 (GRCm39) R736C probably damaging Het
Brca2 A G 5: 150,465,005 (GRCm39) T1590A possibly damaging Het
Cacna2d3 C T 14: 28,691,220 (GRCm39) C35Y probably benign Het
Cep170b G A 12: 112,710,159 (GRCm39) R1433H probably damaging Het
Cmtm2a A G 8: 105,008,036 (GRCm39) C138R probably damaging Het
Cntnap5c T A 17: 58,198,964 (GRCm39) V86E Het
Cog7 A G 7: 121,549,106 (GRCm39) I385T probably damaging Het
Col28a1 A T 6: 8,091,839 (GRCm39) probably null Het
Dkk3 T C 7: 111,717,542 (GRCm39) E309G probably benign Het
Dnah10 T C 5: 124,842,614 (GRCm39) V1411A probably benign Het
Enox1 G T 14: 77,819,950 (GRCm39) R235L probably benign Het
Foxn1 T C 11: 78,252,438 (GRCm39) N317D possibly damaging Het
Grip2 G A 6: 91,762,721 (GRCm39) probably benign Het
Hmmr T C 11: 40,604,854 (GRCm39) T406A probably benign Het
Hpcal1 G A 12: 17,836,197 (GRCm39) R9H probably benign Het
Iglv3 A T 16: 19,060,132 (GRCm39) Y65* probably null Het
Kcnk9 T C 15: 72,418,019 (GRCm39) E37G possibly damaging Het
Klhl40 A G 9: 121,609,107 (GRCm39) D424G probably benign Het
Lbr A G 1: 181,648,294 (GRCm39) L389P possibly damaging Het
Ly9 A G 1: 171,421,569 (GRCm39) Y561H probably damaging Het
Mcoln3 T C 3: 145,845,126 (GRCm39) F441L probably damaging Het
Muc20 G T 16: 32,613,829 (GRCm39) T516K possibly damaging Het
Naa35 T C 13: 59,775,775 (GRCm39) M551T probably benign Het
Nkx6-2 T A 7: 139,161,868 (GRCm39) T170S probably damaging Het
Nlrp4c T A 7: 6,069,337 (GRCm39) F413I Het
Or10w1 G A 19: 13,632,371 (GRCm39) V193M probably damaging Het
Or1s2 C A 19: 13,758,381 (GRCm39) T133K probably benign Het
Or6c1b T G 10: 129,273,065 (GRCm39) L128R probably damaging Het
Or8k22 T C 2: 86,163,317 (GRCm39) K128E possibly damaging Het
Pcdhga10 C T 18: 37,881,952 (GRCm39) T571I possibly damaging Het
Pla2g4a A T 1: 149,747,256 (GRCm39) M310K probably benign Het
Plaa T C 4: 94,471,791 (GRCm39) T353A probably benign Het
Rapgef1 T C 2: 29,627,458 (GRCm39) F1172S possibly damaging Het
Rfx2 T C 17: 57,087,877 (GRCm39) T505A possibly damaging Het
Rfx4 T C 10: 84,676,758 (GRCm39) V216A probably damaging Het
Rps6kb2 G T 19: 4,211,183 (GRCm39) A114D probably damaging Het
Sdc2 T A 15: 33,023,897 (GRCm39) L92* probably null Het
Slc18b1 A G 10: 23,696,764 (GRCm39) Y319C probably benign Het
Slc22a15 A T 3: 101,790,849 (GRCm39) Y219N probably damaging Het
Tarbp1 A T 8: 127,177,569 (GRCm39) probably benign Het
Tfap2d T C 1: 19,175,036 (GRCm39) L163P possibly damaging Het
Trank1 A G 9: 111,193,973 (GRCm39) I666V probably benign Het
Trav14-1 G T 14: 53,792,009 (GRCm39) A120S probably damaging Het
Trps1 T A 15: 50,753,007 (GRCm39) N20I probably benign Het
Txndc16 A G 14: 45,378,028 (GRCm39) Y682H probably damaging Het
Ube4a A T 9: 44,837,261 (GRCm39) D991E probably damaging Het
Zswim4 C T 8: 84,940,699 (GRCm39) R800Q probably 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
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
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'- TTCAGTGTCACCAGGGCAAG -3'
(R):5'- AGGCAGAGTACCTTACCTGG -3'

Sequencing Primer
(F):5'- AACTGTGCTGTACCTAGCCCAG -3'
(R):5'- CAGAGTACCTTACCTGGCTTGG -3'
Posted On 2021-07-15