Incidental Mutation 'R1951:Itgal'
ID 217297
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 039965-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.143) question?
Stock # R1951 (G1)
Quality Score 225
Status Not validated
Chromosome 7
Chromosomal Location 126895432-126934310 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 126929317 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 1078 (D1078G)
Ref Sequence ENSEMBL: ENSMUSP00000131847 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000106306] [ENSMUST00000117762] [ENSMUST00000118405] [ENSMUST00000120857] [ENSMUST00000170971]
AlphaFold P24063
Predicted Effect probably damaging
Transcript: ENSMUST00000106306
AA Change: D1079G

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000101913
Gene: ENSMUSG00000030830
AA Change: D1079G

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: D1078G

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000113946
Gene: ENSMUSG00000030830
AA Change: D1078G

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: D682G

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000112591
Gene: ENSMUSG00000030830
AA Change: D682G

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: D1078G

PolyPhen 2 Score 0.968 (Sensitivity: 0.77; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000113396
Gene: ENSMUSG00000030830
AA Change: D1078G

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: D1078G

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000131847
Gene: ENSMUSG00000030830
AA Change: D1078G

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: 98.5%
  • 10x: 96.8%
  • 20x: 94.2%
Validation Efficiency 98% (84/86)
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: 82 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca15 C T 7: 119,960,655 (GRCm39) R706C probably damaging Het
Adcy3 T C 12: 4,258,624 (GRCm39) F847S probably benign Het
Alyref C G 11: 120,486,758 (GRCm39) V168L probably damaging Het
Arhgap28 G A 17: 68,208,336 (GRCm39) A44V probably benign Het
Asap3 C T 4: 135,954,767 (GRCm39) R60* probably null Het
Baz1b T A 5: 135,245,593 (GRCm39) N347K probably benign Het
Best2 T A 8: 85,737,858 (GRCm39) N179I possibly damaging Het
Bfar C T 16: 13,519,970 (GRCm39) S276L probably damaging Het
Bloc1s3 A G 7: 19,241,483 (GRCm39) V15A possibly damaging Het
Borcs5 A G 6: 134,687,230 (GRCm39) H196R unknown Het
Calhm3 A G 19: 47,140,256 (GRCm39) L279P probably benign Het
Cand1 A T 10: 119,043,925 (GRCm39) probably benign Het
Car15 T C 16: 17,655,269 (GRCm39) D57G possibly damaging Het
Casp12 G A 9: 5,348,959 (GRCm39) probably null Het
Cd93 T C 2: 148,283,778 (GRCm39) T523A probably benign Het
Ces4a G A 8: 105,864,729 (GRCm39) G69S probably damaging Het
Ckap5 A G 2: 91,386,837 (GRCm39) probably benign Het
Col6a5 G A 9: 105,814,156 (GRCm39) R619W unknown Het
Colec12 G A 18: 9,859,975 (GRCm39) probably null Het
Crmp1 G A 5: 37,430,699 (GRCm39) V222I possibly damaging Het
Crnkl1 G A 2: 145,770,120 (GRCm39) A241V probably damaging Het
Ctbp2 A G 7: 132,616,756 (GRCm39) S60P probably benign Het
Cyp2c68 T C 19: 39,700,972 (GRCm39) Y282C probably benign Het
Dhx36 T C 3: 62,391,694 (GRCm39) I551V probably damaging Het
Dlg5 T A 14: 24,206,537 (GRCm39) probably benign Het
Dlgap1 A T 17: 71,068,306 (GRCm39) I300F probably damaging Het
Dmd T A X: 82,874,123 (GRCm39) I1342N probably damaging Het
Dnah6 T A 6: 73,061,704 (GRCm39) R2794* probably null Het
Fcgr1 G A 3: 96,194,386 (GRCm39) T167I probably damaging Het
Fgl1 G T 8: 41,650,387 (GRCm39) F187L probably benign Het
Fras1 T A 5: 96,860,242 (GRCm39) V2096E probably benign Het
Gm10647 A G 9: 66,705,762 (GRCm39) probably benign Het
Gm14226 G A 2: 154,866,255 (GRCm39) D71N possibly damaging Het
Grip2 A T 6: 91,760,829 (GRCm39) I284N probably damaging Het
Hirip3 A G 7: 126,462,038 (GRCm39) R19G probably damaging Het
Ift70b A G 2: 75,767,586 (GRCm39) L389P probably damaging Het
Irx5 A G 8: 93,086,438 (GRCm39) N174D probably damaging Het
Khdc3 T C 9: 73,010,519 (GRCm39) V123A possibly damaging Het
Klhl13 A G X: 23,127,820 (GRCm39) probably benign Het
Klhl42 T C 6: 146,993,321 (GRCm39) S98P probably damaging Het
Lrp5 T C 19: 3,670,298 (GRCm39) N602S possibly damaging Het
Lrrd1 A T 5: 3,901,488 (GRCm39) I598F probably damaging Het
Ltbp1 A G 17: 75,458,372 (GRCm39) T318A probably benign Het
Mfsd6 A G 1: 52,748,517 (GRCm39) F116S probably damaging Het
Ncam1 T C 9: 49,456,492 (GRCm39) I486V probably benign Het
Nptx1 A G 11: 119,434,006 (GRCm39) probably null Het
Nrg1 T C 8: 32,408,221 (GRCm39) Y4C probably damaging Het
Nsf G A 11: 103,773,702 (GRCm39) R271* probably null Het
Or5d39 A G 2: 87,979,641 (GRCm39) S241P possibly damaging Het
Or8g24 T A 9: 38,989,580 (GRCm39) I154F probably benign Het
Or8k18 G C 2: 86,085,440 (GRCm39) T199S probably benign Het
Or8k21 T A 2: 86,145,504 (GRCm39) N42I probably damaging Het
Or8k24 A T 2: 86,215,855 (GRCm39) H302Q probably benign Het
Pax2 A G 19: 44,777,271 (GRCm39) T155A probably benign Het
Pdia4 A G 6: 47,780,813 (GRCm39) Y212H probably damaging Het
Pgr A G 9: 8,946,954 (GRCm39) probably benign Het
Pitpnm3 G T 11: 71,965,450 (GRCm39) H112N possibly damaging Het
Ppargc1b G T 18: 61,431,848 (GRCm39) T1000K possibly damaging Het
Psd3 C A 8: 68,416,139 (GRCm39) C586F probably benign Het
Ptprm A T 17: 67,247,575 (GRCm39) S587T probably benign Het
Rabep2 A T 7: 126,037,736 (GRCm39) R169S possibly damaging Het
Rad21l T C 2: 151,497,179 (GRCm39) R309G probably benign Het
Rbm12 T C 2: 155,939,133 (GRCm39) R380G probably damaging Het
Selp A G 1: 163,954,081 (GRCm39) N127S probably benign Het
Slc12a2 A G 18: 58,012,467 (GRCm39) T197A possibly damaging Het
Slc22a18 C T 7: 143,029,984 (GRCm39) T17I probably damaging Het
Sptbn4 T C 7: 27,065,868 (GRCm39) E2026G possibly damaging Het
Srf A T 17: 46,862,633 (GRCm39) M285K possibly damaging Het
Tanc1 T C 2: 59,622,156 (GRCm39) V425A possibly damaging Het
Tle4 A T 19: 14,493,721 (GRCm39) probably null Het
Tmem132e A G 11: 82,335,908 (GRCm39) R905G possibly damaging Het
Tmem200c A T 17: 69,147,983 (GRCm39) I189F probably damaging Het
Trappc13 T C 13: 104,311,150 (GRCm39) Q87R probably benign Het
Trpm7 A T 2: 126,673,219 (GRCm39) D511E probably damaging Het
Ttn A T 2: 76,632,634 (GRCm39) I14140N possibly damaging Het
Virma A G 4: 11,513,907 (GRCm39) D587G probably benign Het
Vmn1r72 A G 7: 11,403,731 (GRCm39) L239P probably damaging Het
Vmn2r68 A G 7: 84,883,102 (GRCm39) F217L probably damaging Het
Vps13c T C 9: 67,881,041 (GRCm39) probably null Het
Vrtn T C 12: 84,695,973 (GRCm39) V241A probably damaging Het
Xdh T C 17: 74,214,653 (GRCm39) E764G probably damaging Het
Zranb3 A T 1: 127,927,136 (GRCm39) V343D 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
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
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'- TTGTGAGTACAGAGGGTGACAC -3'
(R):5'- TCTGTGGAGTGAGCTGAGAC -3'

Sequencing Primer
(F):5'- TGTGAGTACAGAGGGTGACACATTTG -3'
(R):5'- AGCTGAGACTTGTTTGGGCTC -3'
Posted On 2014-08-01