Incidental Mutation 'R8881:Itgal'
ID 676919
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 068749-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.143) question?
Stock # R8881 (G1)
Quality Score 225.009
Status Validated
Chromosome 7
Chromosomal Location 126895432-126934310 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 126929541 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Methionine at position 1153 (V1153M)
Ref Sequence ENSEMBL: ENSMUSP00000113396 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000106306] [ENSMUST00000117762] [ENSMUST00000118405] [ENSMUST00000120857] [ENSMUST00000170971]
AlphaFold P24063
Predicted Effect probably benign
Transcript: ENSMUST00000106306
SMART Domains Protein: ENSMUSP00000101913
Gene: ENSMUSG00000030830

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 benign
Transcript: ENSMUST00000117762
SMART Domains Protein: ENSMUSP00000113946
Gene: ENSMUSG00000030830

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 probably benign
Transcript: ENSMUST00000120857
AA Change: V1153M

PolyPhen 2 Score 0.112 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000113396
Gene: ENSMUSG00000030830
AA Change: V1153M

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 benign
Transcript: ENSMUST00000170971
SMART Domains Protein: ENSMUSP00000131847
Gene: ENSMUSG00000030830

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: 99.6%
  • 20x: 98.5%
Validation Efficiency 100% (69/69)
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
Abca16 G A 7: 120,074,794 (GRCm39) C612Y probably benign Het
Adam21 T C 12: 81,606,650 (GRCm39) T371A probably benign Het
Akap9 T C 5: 4,011,279 (GRCm39) S661P Het
Anxa11 C T 14: 25,874,687 (GRCm39) R233C probably damaging Het
Capza3 A C 6: 139,987,521 (GRCm39) D40A probably damaging Het
Caskin1 C A 17: 24,718,273 (GRCm39) N294K probably damaging Het
Cdh1 T C 8: 107,392,904 (GRCm39) V796A probably benign Het
Cfap251 C T 5: 123,462,438 (GRCm39) P1249L probably damaging Het
Cped1 A T 6: 22,119,578 (GRCm39) T346S possibly damaging Het
Crisp4 A T 1: 18,185,902 (GRCm39) V278D probably damaging Het
Ddx60 A C 8: 62,474,343 (GRCm39) D1477A possibly damaging Het
Dmrtb1 T C 4: 107,537,922 (GRCm39) D82G possibly damaging Het
Dnah11 T C 12: 118,077,647 (GRCm39) N1282S probably benign Het
Dnah11 C T 12: 118,090,550 (GRCm39) V1104M probably benign Het
Dot1l A G 10: 80,621,429 (GRCm39) E630G probably damaging Het
Dppa4 C A 16: 48,108,299 (GRCm39) T28K Het
Dusp5 T A 19: 53,529,745 (GRCm39) S383T probably benign Het
Eef2k C T 7: 120,472,548 (GRCm39) A87V probably damaging Het
Epha1 T C 6: 42,337,961 (GRCm39) Y828C probably damaging Het
Erbb4 A C 1: 68,382,997 (GRCm39) probably null Het
Fam151b T A 13: 92,604,630 (GRCm39) M120L probably benign Het
Fam237b A C 5: 5,625,379 (GRCm39) D25A possibly damaging Het
Fez2 T C 17: 78,689,051 (GRCm39) D366G probably damaging Het
Frmd4b G T 6: 97,272,735 (GRCm39) H886N probably benign Het
Galnt17 T C 5: 130,906,635 (GRCm39) H511R probably benign Het
Grpel1 C A 5: 36,626,816 (GRCm39) Q33K possibly damaging Het
Gzmm A C 10: 79,530,819 (GRCm39) probably null Het
Hmcn1 C A 1: 150,525,723 (GRCm39) L3333F probably damaging Het
Il21r A T 7: 125,231,498 (GRCm39) T309S probably benign Het
Kdf1 G A 4: 133,257,654 (GRCm39) A390T possibly damaging Het
Lcn11 G T 2: 25,669,296 (GRCm39) R151L probably benign Het
Lgi3 T A 14: 70,770,282 (GRCm39) Y116N probably damaging Het
Llgl2 A G 11: 115,743,866 (GRCm39) H731R probably benign Het
Lrp5 A T 19: 3,641,015 (GRCm39) S1482T probably damaging Het
Meis2 T C 2: 115,889,116 (GRCm39) D212G probably benign Het
Mrgpra9 A G 7: 46,885,242 (GRCm39) C142R possibly damaging Het
Mrgprf A G 7: 144,861,999 (GRCm39) H187R probably benign Het
Mvd A G 8: 123,164,564 (GRCm39) probably null Het
Neb T C 2: 52,096,999 (GRCm39) I4938M possibly damaging Het
Nipal4 A T 11: 46,042,177 (GRCm39) M168K probably benign Het
Nr1h4 A G 10: 89,319,351 (GRCm39) Y158H probably damaging Het
Nrxn2 T C 19: 6,554,920 (GRCm39) I1133T probably benign Het
Numa1 T C 7: 101,650,684 (GRCm39) Y1472H probably benign Het
Or10ak8 A G 4: 118,774,571 (GRCm39) V31A probably benign Het
Or12j3 A G 7: 139,952,698 (GRCm39) V275A probably benign Het
Or2y10 G A 11: 49,455,209 (GRCm39) V154M probably benign Het
Or3a1d T C 11: 74,237,471 (GRCm39) D313G probably benign Het
Or52h7 A G 7: 104,213,619 (GRCm39) M64V possibly damaging Het
Pate7 T A 9: 35,689,384 (GRCm39) probably benign Het
Pcdha6 G T 18: 37,101,484 (GRCm39) V226F probably damaging Het
Pnpla6 G A 8: 3,581,489 (GRCm39) M605I probably benign Het
Ppp1r13l G A 7: 19,105,194 (GRCm39) R322H probably damaging Het
Sgtb T C 13: 104,258,046 (GRCm39) probably null Het
Skint6 T C 4: 112,672,716 (GRCm39) K1086E possibly damaging Het
Slc4a11 T C 2: 130,527,457 (GRCm39) E646G probably damaging Het
Speg G T 1: 75,377,795 (GRCm39) R851L possibly damaging Het
Spns3 T G 11: 72,429,912 (GRCm39) D172A probably damaging Het
Srgap3 A G 6: 112,700,098 (GRCm39) V984A probably benign Het
Syne1 A T 10: 5,223,639 (GRCm39) D3080E probably damaging Het
Taf5l T C 8: 124,730,101 (GRCm39) H196R possibly damaging Het
Tmem229a G C 6: 24,955,587 (GRCm39) R56G probably damaging Het
Tmprss6 A C 15: 78,327,987 (GRCm39) *582G probably null Het
Trip13 C A 13: 74,077,795 (GRCm39) R173L possibly damaging Het
Trpm7 A T 2: 126,661,883 (GRCm39) V1055E probably damaging Het
Utrn A G 10: 12,423,737 (GRCm39) I2T possibly damaging Het
V1rd19 T A 7: 23,703,081 (GRCm39) S182R possibly damaging Het
Vmn2r58 C A 7: 41,486,609 (GRCm39) G762V probably benign Het
Zfp874b T C 13: 67,622,141 (GRCm39) K386E 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
R8838:Itgal UTSW 7 126,910,433 (GRCm39) missense probably damaging 1.00
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'- GTACGTACTCAGCGGCATTG -3'
(R):5'- CGCCCTTATCTTTTGAGGCA -3'

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