Incidental Mutation 'R6254:Itgal'
ID 505985
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 044371-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.143) question?
Stock # R6254 (G1)
Quality Score 225.009
Status Validated
Chromosome 7
Chromosomal Location 126895432-126934310 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 126924375 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Lysine at position 897 (N897K)
Ref Sequence ENSEMBL: ENSMUSP00000131847 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000106306] [ENSMUST00000117762] [ENSMUST00000118405] [ENSMUST00000120857] [ENSMUST00000170971]
AlphaFold P24063
Predicted Effect probably damaging
Transcript: ENSMUST00000106306
AA Change: N898K

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000101913
Gene: ENSMUSG00000030830
AA Change: N898K

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: N897K

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000113946
Gene: ENSMUSG00000030830
AA Change: N897K

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: N501K

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000112591
Gene: ENSMUSG00000030830
AA Change: N501K

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: N897K

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000113396
Gene: ENSMUSG00000030830
AA Change: N897K

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: N897K

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000131847
Gene: ENSMUSG00000030830
AA Change: N897K

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: 98.2%
  • 20x: 94.4%
Validation Efficiency 100% (82/82)
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: 82 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam6b A T 12: 113,453,190 (GRCm39) L2F probably damaging Het
Ank2 T A 3: 126,735,453 (GRCm39) probably benign Het
Anpep T G 7: 79,488,981 (GRCm39) D369A probably damaging Het
App T C 16: 84,775,065 (GRCm39) E599G probably damaging Het
Asphd1 C T 7: 126,548,040 (GRCm39) V88I probably benign Het
Atad5 A T 11: 80,018,215 (GRCm39) I1389F probably damaging Het
Blm T C 7: 80,130,090 (GRCm39) N950S probably benign Het
Bsn A T 9: 107,989,065 (GRCm39) M2229K probably damaging Het
Cacna2d2 A G 9: 107,386,415 (GRCm39) M181V probably benign Het
Cadps2 T A 6: 23,329,162 (GRCm39) probably null Het
Cdh1 T A 8: 107,390,430 (GRCm39) V590D probably damaging Het
Cdk5rap2 G A 4: 70,282,269 (GRCm39) T160M probably damaging Het
Cfap97d2 A G 8: 13,756,043 (GRCm39) D26G possibly damaging Het
Cfhr4 A G 1: 139,682,128 (GRCm39) I156T probably damaging Het
Chrna5 A G 9: 54,913,740 (GRCm39) M325V probably benign Het
Clca3a2 A G 3: 144,507,895 (GRCm39) I116T probably benign Het
Cyp2c23 T C 19: 43,993,902 (GRCm39) K488R probably benign Het
Edil3 T A 13: 89,467,848 (GRCm39) I451N probably damaging Het
Exph5 T G 9: 53,284,010 (GRCm39) S364A possibly damaging Het
Fam98c A G 7: 28,853,942 (GRCm39) S209P probably damaging Het
Fat3 G A 9: 15,907,441 (GRCm39) L2854F probably benign Het
Fbxo38 T C 18: 62,638,571 (GRCm39) probably null Het
Fermt2 T C 14: 45,713,516 (GRCm39) D205G probably damaging Het
Fmnl1 G A 11: 103,087,141 (GRCm39) probably benign Het
Fn3k A G 11: 121,325,894 (GRCm39) E27G probably damaging Het
Foxj2 A G 6: 122,815,098 (GRCm39) H378R probably damaging Het
Fubp1 A G 3: 151,938,045 (GRCm39) K140E possibly damaging Het
Gm7694 A T 1: 170,130,103 (GRCm39) C98* probably null Het
Golgb1 T C 16: 36,734,340 (GRCm39) S1196P probably damaging Het
Gpm6a G A 8: 55,500,431 (GRCm39) probably null Het
Hltf T A 3: 20,117,993 (GRCm39) N80K possibly damaging Het
Il1rap G A 16: 26,514,020 (GRCm39) R251H probably benign Het
Ipo7 T A 7: 109,648,267 (GRCm39) D688E probably benign Het
Itsn2 A G 12: 4,674,982 (GRCm39) probably null Het
Kcnk13 A G 12: 99,931,631 (GRCm39) probably benign Het
Kdm7a A G 6: 39,147,203 (GRCm39) L248P probably damaging Het
Kmt2c T C 5: 25,554,872 (GRCm39) E1254G possibly damaging Het
Ldah G A 12: 8,325,912 (GRCm39) probably benign Het
Lingo1 T A 9: 56,527,371 (GRCm39) D406V possibly damaging Het
Lratd2 A G 15: 60,695,650 (GRCm39) I32T probably damaging Het
Lrriq1 A T 10: 103,051,312 (GRCm39) V480E probably benign Het
Mtcl1 C T 17: 66,665,129 (GRCm39) R1142H probably benign Het
Mtmr3 G A 11: 4,447,381 (GRCm39) Q360* probably null Het
Muc6 T C 7: 141,237,380 (GRCm39) N252S probably benign Het
Naa20 T C 2: 145,745,240 (GRCm39) L4P probably damaging Het
Neb T A 2: 52,112,973 (GRCm39) I4274L probably benign Het
Noa1 A T 5: 77,457,516 (GRCm39) F130I probably benign Het
Nrg4 G T 9: 55,143,796 (GRCm39) H87N possibly damaging Het
Or51ai2 T A 7: 103,586,741 (GRCm39) H51Q probably benign Het
Or5m12 T A 2: 85,734,849 (GRCm39) Y183F probably damaging Het
P3h3 C T 6: 124,822,564 (GRCm39) E536K probably damaging Het
Pcdhb11 T C 18: 37,554,771 (GRCm39) S34P probably damaging Het
Pik3r1 T C 13: 101,825,914 (GRCm39) T71A possibly damaging Het
Plaur T A 7: 24,166,225 (GRCm39) C99S possibly damaging Het
Plekha5 G A 6: 140,532,162 (GRCm39) G501E probably damaging Het
Plxnd1 C T 6: 115,954,921 (GRCm39) V614M probably benign Het
Ppp2r3d T C 9: 101,025,786 (GRCm39) D307G possibly damaging Het
Prl3d3 C T 13: 27,341,453 (GRCm39) S28F possibly damaging Het
Prpf40a T C 2: 53,047,927 (GRCm39) M197V probably benign Het
Ptk7 C A 17: 46,883,568 (GRCm39) Q832H probably damaging Het
Qser1 T C 2: 104,620,435 (GRCm39) S126G probably benign Het
Rab3ip A T 10: 116,751,772 (GRCm39) C332S probably damaging Het
Raly C A 2: 154,699,286 (GRCm39) T30K probably damaging Het
Rbp2 G T 9: 98,372,700 (GRCm39) S13I probably benign Het
Rps6ka1 C T 4: 133,594,535 (GRCm39) M159I possibly damaging Het
Rufy3 C T 5: 88,732,168 (GRCm39) T57I probably benign Het
Samd4 A G 14: 47,254,088 (GRCm39) D184G probably damaging Het
Slc35f3 T C 8: 127,047,833 (GRCm39) C58R possibly damaging Het
Smarca4 T C 9: 21,611,173 (GRCm39) I1467T probably damaging Het
Spag17 T G 3: 99,972,901 (GRCm39) I1371S probably benign Het
Sptan1 T C 2: 29,897,561 (GRCm39) L1228P possibly damaging Het
Stk31 C T 6: 49,398,631 (GRCm39) A344V probably benign Het
Supt16 A G 14: 52,408,291 (GRCm39) W885R probably damaging Het
Tdrd9 T A 12: 111,992,334 (GRCm39) probably null Het
Tmod1 A G 4: 46,078,469 (GRCm39) probably null Het
Tnfsf13 A C 11: 69,575,309 (GRCm39) probably null Het
Trim75 C A 8: 65,436,094 (GRCm39) E119* probably null Het
Wdr6 T C 9: 108,452,110 (GRCm39) Y591C probably damaging Het
Wdr86 C T 5: 24,923,281 (GRCm39) R137H probably benign Het
Ythdf1 T A 2: 180,552,943 (GRCm39) Y424F probably damaging Het
Zfp984 G T 4: 147,840,643 (GRCm39) S69R possibly damaging Het
Zyg11a A G 4: 108,038,991 (GRCm39) F743L 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
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'- TCCAGGTGATGTTTAACACGC -3'
(R):5'- TTGTAATGCTGGGATGACCTC -3'

Sequencing Primer
(F):5'- CAGGTGATGTTTAACACGCTACTC -3'
(R):5'- TGCTGGGATGACCTCTAATCAAAC -3'
Posted On 2018-02-28