Incidental Mutation 'R4579:Itgal'
ID 343511
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 041801-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.143) question?
Stock # R4579 (G1)
Quality Score 225
Status Validated
Chromosome 7
Chromosomal Location 126895432-126934310 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 126904466 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 313 (D313G)
Ref Sequence ENSEMBL: ENSMUSP00000131847 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000106306] [ENSMUST00000117762] [ENSMUST00000118405] [ENSMUST00000120857] [ENSMUST00000170971]
AlphaFold P24063
Predicted Effect possibly damaging
Transcript: ENSMUST00000106306
AA Change: D313G

PolyPhen 2 Score 0.831 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000101913
Gene: ENSMUSG00000030830
AA Change: D313G

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: D313G

PolyPhen 2 Score 0.831 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000113946
Gene: ENSMUSG00000030830
AA Change: D313G

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 benign
Transcript: ENSMUST00000118405
SMART Domains Protein: ENSMUSP00000112591
Gene: ENSMUSG00000030830

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: D313G

PolyPhen 2 Score 0.609 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000113396
Gene: ENSMUSG00000030830
AA Change: D313G

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: D313G

PolyPhen 2 Score 0.831 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000131847
Gene: ENSMUSG00000030830
AA Change: D313G

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 0.2864 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.3%
Validation Efficiency 97% (88/91)
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: 79 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A930004D18Rik A G 2: 18,031,848 (GRCm39) I90T probably damaging Het
Acox3 A G 5: 35,761,987 (GRCm39) N444D probably damaging Het
Adamts16 A G 13: 70,927,743 (GRCm39) Y499H probably damaging Het
Ajm1 T A 2: 25,469,661 (GRCm39) R83S possibly damaging Het
Ank2 A T 3: 126,752,612 (GRCm39) V368D probably damaging Het
Atad5 T C 11: 79,986,017 (GRCm39) V368A probably damaging Het
Atp13a5 T C 16: 29,067,090 (GRCm39) probably null Het
Bdh1 A T 16: 31,254,954 (GRCm39) probably benign Het
Bmp6 A T 13: 38,653,701 (GRCm39) Y256F probably damaging Het
Bub1b C A 2: 118,453,657 (GRCm39) S496* probably null Het
Capn15 C T 17: 26,178,811 (GRCm39) R1128H probably damaging Het
Ccnf T A 17: 24,450,303 (GRCm39) R461* probably null Het
Col6a1 C T 10: 76,547,191 (GRCm39) V725I unknown Het
Cp T C 3: 20,011,599 (GRCm39) probably null Het
Cul2 T C 18: 3,430,957 (GRCm39) V577A probably benign Het
Cux2 A T 5: 121,998,716 (GRCm39) I1408K probably benign Het
Cyp2c69 T A 19: 39,869,630 (GRCm39) T130S possibly damaging Het
Cyp3a57 A G 5: 145,311,074 (GRCm39) T278A probably benign Het
Dchs1 T G 7: 105,403,972 (GRCm39) T2857P probably damaging Het
Dchs1 A G 7: 105,408,180 (GRCm39) M1884T probably benign Het
Dnah3 T C 7: 119,608,554 (GRCm39) S1802G probably damaging Het
Dner T C 1: 84,361,537 (GRCm39) S691G probably damaging Het
Dzip1l A T 9: 99,529,267 (GRCm39) Q332L probably damaging Het
Eprs1 A G 1: 185,133,804 (GRCm39) Y827C probably damaging Het
Ermp1 A T 19: 29,594,051 (GRCm39) N706K probably damaging Het
F830045P16Rik A G 2: 129,305,423 (GRCm39) L317S probably damaging Het
Fam120c G T X: 150,219,179 (GRCm39) G696W probably damaging Het
Fance T A 17: 28,536,125 (GRCm39) probably null Het
Fancl G T 11: 26,418,423 (GRCm39) probably null Het
Fbxo30 T A 10: 11,165,293 (GRCm39) V5E probably benign Het
Foxn4 A T 5: 114,394,886 (GRCm39) I347N possibly damaging Het
Galr2 A T 11: 116,172,325 (GRCm39) D5V probably benign Het
Gm4845 T G 1: 141,184,865 (GRCm39) noncoding transcript Het
Gnao1 A T 8: 94,693,532 (GRCm39) Q73L probably damaging Het
Gnpat T A 8: 125,605,241 (GRCm39) probably null Het
H2-T5 C T 17: 36,472,649 (GRCm39) probably benign Het
Hectd1 A G 12: 51,791,356 (GRCm39) M2594T probably damaging Het
Hint3 T C 10: 30,486,428 (GRCm39) H117R probably damaging Het
Hsd3b6 A G 3: 98,713,541 (GRCm39) F253L probably damaging Het
Kbtbd2 A T 6: 56,755,893 (GRCm39) D614E probably damaging Het
Ksr2 A T 5: 117,894,335 (GRCm39) I825F probably damaging Het
L3mbtl4 A T 17: 69,071,635 (GRCm39) S521C probably benign Het
Lamc1 T C 1: 153,123,015 (GRCm39) N725S probably damaging Het
Med1 T G 11: 98,049,248 (GRCm39) E516A possibly damaging Het
Mical3 A T 6: 120,935,660 (GRCm39) V1622E probably benign Het
Miip G A 4: 147,945,518 (GRCm39) P373S probably damaging Het
Myo7a C A 7: 97,722,400 (GRCm39) S1175I probably damaging Het
Ndst3 A T 3: 123,340,474 (GRCm39) D781E probably benign Het
Nf1 T A 11: 79,359,583 (GRCm39) V1407E probably damaging Het
Opalin A G 19: 41,056,196 (GRCm39) L33P probably damaging Het
Or2f2 A T 6: 42,767,458 (GRCm39) I162F probably benign Het
Or2n1b G C 17: 38,460,296 (GRCm39) K272N probably damaging Het
Or4c111 T C 2: 88,843,488 (GRCm39) I307V probably benign Het
Or8b12i G T 9: 20,082,410 (GRCm39) S152R probably damaging Het
Or8k28 T C 2: 86,285,859 (GRCm39) Y252C probably damaging Het
Or8s10 A T 15: 98,335,560 (GRCm39) D70V probably damaging Het
Pcdhb2 T A 18: 37,429,168 (GRCm39) N23K probably damaging Het
Pdap1 A G 5: 145,073,691 (GRCm39) probably benign Het
Pds5b A G 5: 150,670,197 (GRCm39) E395G probably damaging Het
Pex1 C A 5: 3,668,880 (GRCm39) R624S probably benign Het
Pitrm1 G A 13: 6,608,261 (GRCm39) V329I probably benign Het
Pop1 G A 15: 34,515,970 (GRCm39) probably benign Het
Prkaa1 A G 15: 5,190,082 (GRCm39) probably null Het
Slc38a6 G T 12: 73,335,298 (GRCm39) probably null Het
Slc5a9 T A 4: 111,750,384 (GRCm39) Y158F probably damaging Het
Spata3 T A 1: 85,954,175 (GRCm39) V114E probably damaging Het
Tbcb T A 7: 29,931,019 (GRCm39) I34F possibly damaging Het
Tek T A 4: 94,751,903 (GRCm39) Y1014* probably null Het
Togaram1 G T 12: 65,014,681 (GRCm39) C644F probably damaging Het
Trim56 A C 5: 137,142,918 (GRCm39) D199E possibly damaging Het
Tssk3 A T 4: 129,383,110 (GRCm39) D187E probably benign Het
Ttn G A 2: 76,727,147 (GRCm39) probably benign Het
Twf2 G A 9: 106,090,025 (GRCm39) R126Q probably benign Het
Ugt1a10 T C 1: 87,983,838 (GRCm39) M212T probably benign Het
Vmn1r177 A T 7: 23,565,772 (GRCm39) F35I possibly damaging Het
Vmn1r44 T A 6: 89,870,915 (GRCm39) H77Q possibly damaging Het
Zfp1004 T A 2: 150,034,143 (GRCm39) Y186N probably damaging Het
Zfp524 G A 7: 5,021,347 (GRCm39) V292I probably benign Het
Zfp788 T G 7: 41,297,018 (GRCm39) I56S 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
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
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'- TCTTCTGAGGCCTAAGCTCC -3'
(R):5'- TGTATTCTAGGTCAGGAGGGCC -3'

Sequencing Primer
(F):5'- GAGGCCTAAGCTCCCTCCTC -3'
(R):5'- TGGGCACTCCTCGCATCTG -3'
Posted On 2015-09-24