Incidental Mutation 'R9104:Itgal'
ID 691888
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
Accession Numbers
Essential gene? Probably non essential (E-score: 0.143) question?
Stock # R9104 (G1)
Quality Score 225.009
Status Validated
Chromosome 7
Chromosomal Location 126895432-126934310 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 126910794 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 592 (D592G)
Ref Sequence ENSEMBL: ENSMUSP00000113396 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000106306] [ENSMUST00000117762] [ENSMUST00000118405] [ENSMUST00000120857] [ENSMUST00000170971]
AlphaFold P24063
Predicted Effect probably damaging
Transcript: ENSMUST00000106306
AA Change: D592G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000101913
Gene: ENSMUSG00000030830
AA Change: D592G

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: D592G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000113946
Gene: ENSMUSG00000030830
AA Change: D592G

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: D196G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000112591
Gene: ENSMUSG00000030830
AA Change: D196G

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: D592G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000113396
Gene: ENSMUSG00000030830
AA Change: D592G

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: D592G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000131847
Gene: ENSMUSG00000030830
AA Change: D592G

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: 99.7%
  • 20x: 98.9%
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: 70 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam26a A T 8: 44,023,108 (GRCm39) N127K probably damaging Het
Adgrl3 C T 5: 81,457,912 (GRCm39) A14V probably benign Het
Adra2b A G 2: 127,205,858 (GRCm39) Y125C probably damaging Het
Ahnak T A 19: 8,987,711 (GRCm39) H2998Q probably benign Het
B3galt1 C A 2: 67,948,406 (GRCm39) H40Q probably benign Het
Best3 T G 10: 116,860,680 (GRCm39) L647V probably benign Het
Brip1 T A 11: 86,077,897 (GRCm39) E177V possibly damaging Het
C1qtnf6 T C 15: 78,409,109 (GRCm39) D246G probably benign Het
C4b G A 17: 34,948,233 (GRCm39) T1622M probably benign Het
Catip G A 1: 74,401,682 (GRCm39) probably null Het
Ccdc138 T C 10: 58,348,982 (GRCm39) V176A probably benign Het
Ccdc85a T C 11: 28,526,879 (GRCm39) H243R probably damaging Het
Cep19 C T 16: 31,925,883 (GRCm39) T97M probably damaging Het
Copz2 G A 11: 96,747,514 (GRCm39) D166N possibly damaging Het
Dedd C T 1: 171,168,572 (GRCm39) L253F probably damaging Het
Dennd5a A G 7: 109,497,713 (GRCm39) probably null Het
Dpp10 A T 1: 123,339,484 (GRCm39) S348T probably damaging Het
Eci3 A G 13: 35,144,382 (GRCm39) probably null Het
Egr4 A G 6: 85,490,337 (GRCm39) S15P probably benign Het
Elp6 A G 9: 110,134,397 (GRCm39) T12A probably benign Het
Ewsr1 G T 11: 5,041,367 (GRCm39) P113T unknown Het
Exosc10 T G 4: 148,664,859 (GRCm39) L789R probably benign Het
Flt4 A G 11: 49,525,161 (GRCm39) Y669C probably damaging Het
Foxred2 A T 15: 77,836,517 (GRCm39) F333I probably damaging Het
Frs2 G T 10: 116,910,070 (GRCm39) H431N probably benign Het
Gm10800 AAGAAAACTGAAAATCAT A 2: 98,497,379 (GRCm39) probably benign Het
Gm19410 T C 8: 36,247,621 (GRCm39) Y478H probably damaging Het
Gm3629 G A 14: 17,834,542 (GRCm39) R150C Het
Grik4 A C 9: 42,571,168 (GRCm39) L179R probably damaging Het
Gsdmc3 C T 15: 63,730,941 (GRCm39) probably null Het
Il20ra T A 10: 19,635,364 (GRCm39) M535K probably benign Het
Il9 A G 13: 56,628,401 (GRCm39) V96A possibly damaging Het
Klk1b11 C T 7: 43,427,875 (GRCm39) probably benign Het
Klk1b27 G A 7: 43,705,310 (GRCm39) W159* probably null Het
Mapk9 T C 11: 49,760,000 (GRCm39) Y105H probably damaging Het
Mmp7 A G 9: 7,697,947 (GRCm39) probably benign Het
Muc2 T C 7: 141,286,224 (GRCm39) I118T probably damaging Het
N4bp2l2 T C 5: 150,566,724 (GRCm39) N131D unknown Het
Nbea A C 3: 55,862,809 (GRCm39) S1814R probably benign Het
Nlrp9c G T 7: 26,081,837 (GRCm39) L630I probably benign Het
Or1j8 T C 2: 36,191,956 (GRCm39) V135A Het
Or6c76 T C 10: 129,612,521 (GRCm39) V261A probably damaging Het
Or8g27 G A 9: 39,128,831 (GRCm39) M59I probably damaging Het
Pbx3 C A 2: 34,114,629 (GRCm39) D102Y probably damaging Het
Pdia6 G A 12: 17,320,492 (GRCm39) V44I probably benign Het
Pkdcc G A 17: 83,528,471 (GRCm39) R280H probably damaging Het
Ppm1h A G 10: 122,638,264 (GRCm39) E178G probably benign Het
Prom1 C T 5: 44,172,161 (GRCm39) S619N probably benign Het
Prtg A C 9: 72,755,607 (GRCm39) I270L probably damaging Het
Rfx6 A T 10: 51,599,106 (GRCm39) H487L probably damaging Het
Rpl18a A C 8: 71,348,788 (GRCm39) Y63D probably benign Het
Rtl1 T A 12: 109,560,718 (GRCm39) M374L probably benign Het
Scaper A G 9: 55,819,400 (GRCm39) L105P unknown Het
Slc16a13 T A 11: 70,111,530 (GRCm39) probably benign Het
Slc6a13 A G 6: 121,313,044 (GRCm39) K487R probably benign Het
Slc7a11 T A 3: 50,332,082 (GRCm39) T459S probably benign Het
Smarcad1 A G 6: 65,075,649 (GRCm39) Q708R probably benign Het
Stat2 T C 10: 128,117,111 (GRCm39) probably null Het
Syde1 T C 10: 78,421,670 (GRCm39) H627R probably benign Het
Tas2r113 G A 6: 132,870,116 (GRCm39) R48H probably benign Het
Tbc1d16 T C 11: 119,038,626 (GRCm39) Y690C probably damaging Het
Tchh A T 3: 93,354,610 (GRCm39) H1350L unknown Het
Tex15 T A 8: 34,060,950 (GRCm39) Y127N possibly damaging Het
Thsd4 T C 9: 59,964,179 (GRCm39) T438A possibly damaging Het
Tubg1 A G 11: 101,015,099 (GRCm39) D216G probably benign Het
Tyk2 T C 9: 21,026,762 (GRCm39) D642G possibly damaging Het
Uqcc1 C T 2: 155,743,217 (GRCm39) probably null Het
Uvssa A C 5: 33,571,404 (GRCm39) K683Q probably damaging Het
Vmn1r59 A T 7: 5,457,166 (GRCm39) M198K probably benign Het
Zfp772 T A 7: 7,207,190 (GRCm39) H167L 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
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
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'- AGCCAGGTAAGGTACTCTGC -3'
(R):5'- AAATCGAATCTGGGCCTCTGAG -3'

Sequencing Primer
(F):5'- CAGGTAAGGTACTCTGCCTGTC -3'
(R):5'- CCTCTGAGGAGCAGCTGC -3'
Posted On 2021-12-30