Incidental Mutation 'R5955:Itgal'
ID 471121
Institutional Source Beutler Lab
Gene Symbol Itgal
Ensembl Gene ENSMUSG00000030830
Gene Name integrin alpha L
Synonyms Ly-21, Ly-15, Cd11a, LFA-1
Accession Numbers
Essential gene? Probably non essential (E-score: 0.143) question?
Stock # R5955 (G1)
Quality Score 225
Status Not validated
Chromosome 7
Chromosomal Location 126895432-126934310 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 126904161 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 258 (V258A)
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: V258A

PolyPhen 2 Score 0.605 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000101913
Gene: ENSMUSG00000030830
AA Change: V258A

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: V258A

PolyPhen 2 Score 0.605 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000113946
Gene: ENSMUSG00000030830
AA Change: V258A

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: V258A

PolyPhen 2 Score 0.820 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000113396
Gene: ENSMUSG00000030830
AA Change: V258A

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: V258A

PolyPhen 2 Score 0.456 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000131847
Gene: ENSMUSG00000030830
AA Change: V258A

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: 99.9%
  • 3x: 99.6%
  • 10x: 98.0%
  • 20x: 93.7%
Validation Efficiency
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: 61 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc2 A T 19: 43,801,629 (GRCm39) D632V probably damaging Het
Acbd6 C T 1: 155,463,205 (GRCm39) A135V probably benign Het
Adam26a A T 8: 44,022,889 (GRCm39) F200L probably benign Het
Ago3 A T 4: 126,248,843 (GRCm39) N569K probably damaging Het
Ak9 A T 10: 41,234,560 (GRCm39) L640F probably damaging Het
Ampd2 A G 3: 107,987,088 (GRCm39) V178A probably damaging Het
Anapc4 C G 5: 53,023,288 (GRCm39) H710D probably benign Het
Atad2 T C 15: 57,969,055 (GRCm39) I495V probably benign Het
Bhmt2 T C 13: 93,799,705 (GRCm39) T244A probably benign Het
Capg T C 6: 72,532,483 (GRCm39) V16A probably benign Het
Capn13 A G 17: 73,637,997 (GRCm39) F469L possibly damaging Het
Ccdc149 C T 5: 52,533,877 (GRCm39) V430I probably benign Het
Cma1 A C 14: 56,181,226 (GRCm39) Y47D probably benign Het
Col6a3 A T 1: 90,739,163 (GRCm39) L355Q probably damaging Het
Cripto C A 9: 110,773,281 (GRCm39) R18L unknown Het
Crocc G T 4: 140,745,229 (GRCm39) T1796K possibly damaging Het
Cyp2c50 A T 19: 40,079,387 (GRCm39) probably null Het
Dsp T C 13: 38,378,934 (GRCm39) I1294T possibly damaging Het
Erbin A T 13: 103,966,700 (GRCm39) F1250Y probably benign Het
Fbn1 A C 2: 125,200,802 (GRCm39) C1298W probably damaging Het
Fbn2 A C 18: 58,177,328 (GRCm39) F1990V probably damaging Het
Fez2 A T 17: 78,694,472 (GRCm39) V306D probably damaging Het
Gigyf1 G A 5: 137,521,769 (GRCm39) probably null Het
Gjb4 A T 4: 127,245,745 (GRCm39) Y65* probably null Het
Gm26661 G A 14: 7,791,776 (GRCm38) A64T unknown Het
Igkv1-135 T C 6: 67,587,263 (GRCm39) S45P possibly damaging Het
Il27 T C 7: 126,194,070 (GRCm39) T5A probably benign Het
Il27ra T C 8: 84,767,451 (GRCm39) D124G probably benign Het
Itgad A G 7: 127,788,653 (GRCm39) H424R probably benign Het
Kpna4 A G 3: 68,997,134 (GRCm39) V351A probably benign Het
Lama5 T C 2: 179,839,267 (GRCm39) Q747R probably damaging Het
Map4k5 A G 12: 69,891,164 (GRCm39) F168L probably damaging Het
Mecom A G 3: 30,015,195 (GRCm39) Y843H probably damaging Het
Mical3 T C 6: 121,010,711 (GRCm39) M424V probably damaging Het
Mtrfr G T 5: 124,478,837 (GRCm39) E153* probably null Het
Myb A G 10: 21,028,398 (GRCm39) I155T probably damaging Het
Nbea A T 3: 55,588,404 (GRCm39) V2445E probably benign Het
Nlrp1b A T 11: 71,108,691 (GRCm39) I270N probably damaging Het
Nlrp4f A T 13: 65,342,895 (GRCm39) M250K probably benign Het
Or13c7 T A 4: 43,854,898 (GRCm39) N196K probably damaging Het
Or1e16 AGCGGTCGTAGGC AGC 11: 73,286,480 (GRCm39) probably null Het
Or52w1 C T 7: 105,017,776 (GRCm39) A72V probably damaging Het
P4ha1 A G 10: 59,178,618 (GRCm39) S96G probably benign Het
Pcnt G T 10: 76,247,456 (GRCm39) N1025K possibly damaging Het
Pgap4 T C 4: 49,586,613 (GRCm39) E185G probably damaging Het
Phactr4 A G 4: 132,114,220 (GRCm39) F58S probably damaging Het
Phlpp1 T A 1: 106,291,960 (GRCm39) probably null Het
Rab40c A C 17: 26,103,631 (GRCm39) V144G probably damaging Het
Rnasel A G 1: 153,630,146 (GRCm39) I221V probably benign Het
Rps6kb1 T C 11: 86,404,431 (GRCm39) K241E probably damaging Het
Rrbp1 C G 2: 143,791,597 (GRCm39) E1370Q probably benign Het
Rttn T C 18: 89,139,133 (GRCm39) Y2111H probably damaging Het
Samd8 A G 14: 21,843,152 (GRCm39) H364R probably damaging Het
Scnm1 T C 3: 95,037,596 (GRCm39) I157V probably benign Het
Setdb1 A G 3: 95,246,153 (GRCm39) Y590H probably damaging Het
Shkbp1 T C 7: 27,041,949 (GRCm39) N635S probably benign Het
Trpm6 A G 19: 18,869,383 (GRCm39) D1990G possibly damaging Het
Usp48 A G 4: 137,343,129 (GRCm39) N426S probably benign Het
Vmn2r16 G A 5: 109,511,613 (GRCm39) V607M possibly damaging Het
Xdh A T 17: 74,205,315 (GRCm39) V1050D probably damaging Het
Zfp110 C T 7: 12,582,672 (GRCm39) T440I 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
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'- CTGCCTGGTAGATTGGAGAGAG -3'
(R):5'- TTGCCAATCTGTGAGGAGGG -3'

Sequencing Primer
(F):5'- AGAGAGGCTTTTGAGTGATTCG -3'
(R):5'- ATGGGAGAGCTGCAGCACC -3'
Posted On 2017-03-31