Incidental Mutation 'R6520:Itgal'
ID 521129
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 # R6520 (G1)
Quality Score 225.009
Status Not validated
Chromosome 7
Chromosomal Location 126895432-126934310 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 126929503 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamine to Leucine at position 1140 (Q1140L)
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: Q1140L

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
SMART Domains Protein: ENSMUSP00000113396
Gene: ENSMUSG00000030830
AA Change: Q1140L

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: 99.9%
  • 3x: 99.5%
  • 10x: 97.5%
  • 20x: 92.0%
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: 89 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700093K21Rik T C 11: 23,467,285 (GRCm39) D116G possibly damaging Het
Adam22 C T 5: 8,166,635 (GRCm39) V699M probably damaging Het
Adh7 A G 3: 137,929,771 (GRCm39) Y149C probably damaging Het
Adissp G T 2: 130,989,174 (GRCm39) H111N probably damaging Het
Angptl3 A C 4: 98,926,085 (GRCm39) N405T probably benign Het
Ank3 A G 10: 69,824,217 (GRCm39) H180R probably damaging Het
Apob T A 12: 8,033,124 (GRCm39) I159N probably damaging Het
Arhgap24 T C 5: 103,028,659 (GRCm39) V185A probably benign Het
Atf6 A T 1: 170,695,238 (GRCm39) H11Q probably benign Het
Atxn3 C A 12: 101,900,660 (GRCm39) D208Y probably damaging Het
Brd9 G A 13: 74,090,913 (GRCm39) R273K probably benign Het
Cbfa2t3 T A 8: 123,362,540 (GRCm39) R302W probably benign Het
Ccdc175 C A 12: 72,186,804 (GRCm39) G347C probably damaging Het
Ccdc87 A G 19: 4,891,817 (GRCm39) K770E probably damaging Het
Ccl17 T C 8: 95,537,178 (GRCm39) F27L probably benign Het
Cd3g A T 9: 44,882,613 (GRCm39) probably null Het
Cep350 A G 1: 155,809,082 (GRCm39) V498A probably benign Het
Cfap45 A G 1: 172,368,151 (GRCm39) D381G probably damaging Het
Cfap46 A G 7: 139,194,321 (GRCm39) probably null Het
Cnrip1 T A 11: 17,028,536 (GRCm39) M156K probably damaging Het
Col23a1 T C 11: 51,440,552 (GRCm39) probably null Het
Col4a1 C T 8: 11,269,152 (GRCm39) G933S probably damaging Het
Col5a3 C T 9: 20,685,348 (GRCm39) V1443I unknown Het
Col6a6 T C 9: 105,663,024 (GRCm39) E171G possibly damaging Het
Dennd1a A T 2: 37,851,759 (GRCm39) probably null Het
Dlk2 C T 17: 46,613,438 (GRCm39) T188I probably damaging Het
Dusp8 A G 7: 141,637,418 (GRCm39) I203T probably damaging Het
Eno2 C T 6: 124,744,678 (GRCm39) R56H probably damaging Het
Erich3 A T 3: 154,469,102 (GRCm39) T1185S probably damaging Het
Evi5l A T 8: 4,255,906 (GRCm39) Q575L possibly damaging Het
Fam187a T A 11: 102,776,701 (GRCm39) H168Q possibly damaging Het
Fat2 T A 11: 55,175,814 (GRCm39) E1633V probably damaging Het
Fbln2 G A 6: 91,236,641 (GRCm39) D719N probably damaging Het
Fbn2 A T 18: 58,235,462 (GRCm39) S672T probably damaging Het
Gas8 C G 8: 124,253,213 (GRCm39) A187G probably benign Het
Gm2696 G A 10: 77,672,332 (GRCm39) probably benign Het
Gnl1 A T 17: 36,293,845 (GRCm39) K272M probably benign Het
Gtf2h3 C T 5: 124,722,360 (GRCm39) T121I probably benign Het
Hemgn T G 4: 46,396,466 (GRCm39) K257Q probably damaging Het
Hgsnat T C 8: 26,443,328 (GRCm39) Y474C probably damaging Het
Hoxc4 T C 15: 102,943,380 (GRCm39) S78P probably benign Het
Igkv14-100 T A 6: 68,496,218 (GRCm39) L37Q probably damaging Het
Iqck A T 7: 118,540,854 (GRCm39) K251M probably damaging Het
Itpka A G 2: 119,581,259 (GRCm39) R431G probably benign Het
Jade1 A G 3: 41,558,917 (GRCm39) N333D possibly damaging Het
Jmjd7 A G 2: 119,861,800 (GRCm39) H181R probably damaging Het
Jmy A G 13: 93,590,547 (GRCm39) S519P probably benign Het
Klra10 T A 6: 130,252,755 (GRCm39) H173L probably benign Het
Krt72 T G 15: 101,689,481 (GRCm39) I284L probably benign Het
Krt78 C A 15: 101,860,206 (GRCm39) V237F probably benign Het
Mapkapk3 G A 9: 107,134,648 (GRCm39) T296M probably damaging Het
Mcmbp A C 7: 128,314,451 (GRCm39) V255G possibly damaging Het
Mcoln1 T G 8: 3,555,855 (GRCm39) M50R probably damaging Het
Mocos T A 18: 24,799,447 (GRCm39) V227E probably benign Het
Mpeg1 A G 19: 12,439,322 (GRCm39) E260G probably benign Het
Mrc1 A T 2: 14,312,760 (GRCm39) N894I probably damaging Het
Mroh7 A G 4: 106,578,460 (GRCm39) S73P probably benign Het
Myo3a A T 2: 22,404,737 (GRCm39) I690L possibly damaging Het
Naa50 T G 16: 43,979,872 (GRCm39) F87V probably damaging Het
Ndufs6 G T 13: 73,476,471 (GRCm39) T32K probably damaging Het
Nfe2l2 A G 2: 75,506,912 (GRCm39) V396A probably benign Het
Nptn A G 9: 58,551,017 (GRCm39) E348G probably damaging Het
Nsun4 A T 4: 115,901,935 (GRCm39) L177Q probably damaging Het
Or56b1b A G 7: 108,164,046 (GRCm39) *319Q probably null Het
Or8d6 T C 9: 39,853,658 (GRCm39) I34T possibly damaging Het
Or8k36-ps1 A G 2: 86,437,462 (GRCm39) L151P unknown Het
Plekha7 A G 7: 115,763,717 (GRCm39) V233A probably benign Het
Polq C A 16: 36,880,739 (GRCm39) Q968K possibly damaging Het
Prmt7 C T 8: 106,961,516 (GRCm39) T143M probably damaging Het
Ptprc G A 1: 138,007,881 (GRCm39) Q886* probably null Het
Rbp7 C A 4: 149,537,371 (GRCm39) V36L possibly damaging Het
Rev3l A T 10: 39,698,698 (GRCm39) N1065I probably benign Het
Scamp5 A T 9: 57,354,489 (GRCm39) probably null Het
Sec16a A G 2: 26,316,118 (GRCm39) S1698P probably damaging Het
Spr C A 6: 85,114,474 (GRCm39) R85L probably benign Het
Sptlc2 A C 12: 87,402,436 (GRCm39) N163K probably benign Het
Stk10 C T 11: 32,538,839 (GRCm39) T226M probably damaging Het
Sv2c A G 13: 96,123,229 (GRCm39) Y415H probably benign Het
Tet1 A G 10: 62,715,792 (GRCm39) M1T probably null Het
Tnnt1 T A 7: 4,512,060 (GRCm39) K150* probably null Het
Trappc10 C T 10: 78,037,287 (GRCm39) V839M probably benign Het
Ubap2 T C 4: 41,195,155 (GRCm39) N1131S probably damaging Het
Upk2 T C 9: 44,364,803 (GRCm39) E132G probably damaging Het
Vmn2r117 A T 17: 23,679,193 (GRCm39) V677D probably damaging Het
Vps13a A T 19: 16,702,943 (GRCm39) L670H probably damaging Het
Wwc1 C T 11: 35,744,264 (GRCm39) E853K probably benign Het
Zfp512 G A 5: 31,623,984 (GRCm39) R67H probably damaging Het
Zfp804b T A 5: 6,819,283 (GRCm39) H1260L probably damaging Het
Zzef1 C A 11: 72,716,891 (GRCm39) N360K 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
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'- GGAGATGCTTCACGTGTACG -3'
(R):5'- CGCCCTTATCTTTTGAGGCA -3'

Sequencing Primer
(F):5'- TACGTACTCAGCGGCATTG -3'
(R):5'- GTCTCCATTACAGGTTCCAGAGTAG -3'
Posted On 2018-06-06