Incidental Mutation 'R0107:Itgal'
ID |
33325 |
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 |
038393-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.169)
|
Stock # |
R0107 (G1)
|
Quality Score |
168 |
Status
|
Validated
|
Chromosome |
7 |
Chromosomal Location |
126895432-126934310 bp(+) (GRCm39) |
Type of Mutation |
splice site |
DNA Base Change (assembly) |
T to C
at 126927731 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000131847
(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
Domain | Start | End | E-Value | Type |
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
Domain | Start | End | E-Value | Type |
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
Domain | Start | End | E-Value | Type |
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
|
SMART Domains |
Protein: ENSMUSP00000113396 Gene: ENSMUSG00000030830
Domain | Start | End | E-Value | Type |
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
Domain | Start | End | E-Value | Type |
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: 99.0%
- 3x: 98.1%
- 10x: 95.8%
- 20x: 90.6%
|
Validation Efficiency |
99% (71/72) |
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: 63 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aadacl2fm2 |
T |
A |
3: 59,659,737 (GRCm39) |
L397I |
possibly damaging |
Het |
Abca1 |
A |
G |
4: 53,080,834 (GRCm39) |
V825A |
probably benign |
Het |
Adamts7 |
T |
C |
9: 90,062,773 (GRCm39) |
I409T |
possibly damaging |
Het |
Adck1 |
T |
C |
12: 88,413,426 (GRCm39) |
W253R |
possibly damaging |
Het |
Afg3l2 |
A |
G |
18: 67,564,836 (GRCm39) |
F213L |
probably damaging |
Het |
Ankle2 |
T |
C |
5: 110,400,893 (GRCm39) |
V743A |
probably benign |
Het |
Ankrd34c |
C |
T |
9: 89,611,537 (GRCm39) |
R268H |
probably benign |
Het |
Arb2a |
A |
G |
13: 78,050,933 (GRCm39) |
D145G |
probably damaging |
Het |
Bcl2 |
G |
A |
1: 106,640,292 (GRCm39) |
R107C |
probably damaging |
Het |
Ccdc7b |
T |
G |
8: 129,904,678 (GRCm39) |
|
probably benign |
Het |
Cd320 |
A |
T |
17: 34,067,059 (GRCm39) |
M169L |
probably benign |
Het |
Chn1 |
A |
G |
2: 73,445,028 (GRCm39) |
Y338H |
probably damaging |
Het |
Chuk |
T |
A |
19: 44,085,358 (GRCm39) |
S263C |
probably damaging |
Het |
Dennd4b |
C |
A |
3: 90,180,043 (GRCm39) |
P663T |
possibly damaging |
Het |
Dnajc24 |
T |
G |
2: 105,832,259 (GRCm39) |
|
probably benign |
Het |
Fbn2 |
A |
G |
18: 58,189,275 (GRCm39) |
V1617A |
probably benign |
Het |
Fermt2 |
T |
C |
14: 45,702,279 (GRCm39) |
N502D |
probably damaging |
Het |
Frrs1 |
A |
T |
3: 116,690,365 (GRCm39) |
I3F |
probably damaging |
Het |
Fut1 |
C |
A |
7: 45,268,270 (GRCm39) |
Q20K |
possibly damaging |
Het |
Gbf1 |
T |
C |
19: 46,273,267 (GRCm39) |
V1709A |
probably benign |
Het |
Gfra3 |
G |
T |
18: 34,844,359 (GRCm39) |
H60Q |
probably benign |
Het |
Gm10750 |
T |
A |
2: 148,857,973 (GRCm39) |
M93L |
unknown |
Het |
Hmcn1 |
T |
A |
1: 150,462,766 (GRCm39) |
I5124L |
probably benign |
Het |
Hps3 |
A |
C |
3: 20,084,960 (GRCm39) |
L76R |
probably damaging |
Het |
Ifrd1 |
T |
A |
12: 40,264,080 (GRCm39) |
Q105L |
probably damaging |
Het |
Irs2 |
A |
T |
8: 11,054,691 (GRCm39) |
V1247E |
probably damaging |
Het |
Ivns1abp |
A |
T |
1: 151,237,321 (GRCm39) |
N495I |
probably damaging |
Het |
Kank1 |
T |
A |
19: 25,407,730 (GRCm39) |
|
probably benign |
Het |
Mroh8 |
T |
C |
2: 157,067,388 (GRCm39) |
Q657R |
probably benign |
Het |
Mthfd1l |
T |
C |
10: 3,991,838 (GRCm39) |
Y597H |
probably benign |
Het |
Myom1 |
G |
A |
17: 71,384,360 (GRCm39) |
V692I |
probably damaging |
Het |
Or13a17 |
A |
T |
7: 140,271,258 (GRCm39) |
M147L |
probably benign |
Het |
Or1j18 |
T |
G |
2: 36,624,730 (GRCm39) |
Y132* |
probably null |
Het |
Or7g20 |
A |
G |
9: 18,946,629 (GRCm39) |
D70G |
probably damaging |
Het |
Palmd |
A |
T |
3: 116,717,725 (GRCm39) |
H257Q |
probably damaging |
Het |
Pcnx2 |
A |
T |
8: 126,480,325 (GRCm39) |
V1994D |
probably benign |
Het |
Phkb |
G |
A |
8: 86,743,560 (GRCm39) |
G553S |
probably benign |
Het |
Plekha5 |
G |
A |
6: 140,537,473 (GRCm39) |
R646K |
possibly damaging |
Het |
Ptprn |
A |
T |
1: 75,232,356 (GRCm39) |
L453M |
probably damaging |
Het |
Ptprz1 |
T |
A |
6: 23,000,569 (GRCm39) |
D886E |
probably damaging |
Het |
Rcn1 |
T |
A |
2: 105,225,126 (GRCm39) |
I110F |
possibly damaging |
Het |
Scn1a |
T |
A |
2: 66,154,977 (GRCm39) |
T661S |
probably benign |
Het |
Slc6a19 |
A |
G |
13: 73,832,176 (GRCm39) |
Y467H |
possibly damaging |
Het |
Slc9c1 |
T |
A |
16: 45,395,783 (GRCm39) |
D611E |
probably benign |
Het |
Slitrk6 |
T |
C |
14: 110,989,395 (GRCm39) |
E104G |
possibly damaging |
Het |
Spag17 |
A |
T |
3: 99,958,103 (GRCm39) |
K920N |
possibly damaging |
Het |
St3gal5 |
A |
G |
6: 72,119,133 (GRCm39) |
S82G |
probably benign |
Het |
Tlk1 |
T |
C |
2: 70,544,333 (GRCm39) |
*767W |
probably null |
Het |
Tln2 |
A |
G |
9: 67,277,988 (GRCm39) |
V342A |
probably damaging |
Het |
Tmem104 |
T |
A |
11: 115,093,006 (GRCm39) |
M132K |
probably damaging |
Het |
Tmem184c |
A |
G |
8: 78,323,702 (GRCm39) |
S387P |
possibly damaging |
Het |
Tmtc1 |
A |
G |
6: 148,327,411 (GRCm39) |
V34A |
possibly damaging |
Het |
Trim46 |
A |
G |
3: 89,143,640 (GRCm39) |
F596S |
probably damaging |
Het |
Unc79 |
T |
A |
12: 103,100,784 (GRCm39) |
D1870E |
possibly damaging |
Het |
Utp20 |
T |
C |
10: 88,614,253 (GRCm39) |
T1234A |
probably benign |
Het |
Vmn1r31 |
T |
A |
6: 58,449,728 (GRCm39) |
T46S |
probably benign |
Het |
Vps13a |
A |
T |
19: 16,669,188 (GRCm39) |
L1341Q |
probably benign |
Het |
Wdr72 |
A |
T |
9: 74,117,715 (GRCm39) |
D821V |
probably damaging |
Het |
Zfhx4 |
T |
C |
3: 5,464,042 (GRCm39) |
L1400P |
probably damaging |
Het |
Zfp217 |
T |
A |
2: 169,956,794 (GRCm39) |
K735* |
probably null |
Het |
Zfp235 |
A |
G |
7: 23,836,541 (GRCm39) |
Q29R |
probably damaging |
Het |
Zfp628 |
A |
G |
7: 4,923,167 (GRCm39) |
Y463C |
probably damaging |
Het |
Zkscan4 |
A |
G |
13: 21,668,751 (GRCm39) |
T401A |
possibly damaging |
Het |
|
Other mutations in Itgal |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH 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 |
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 |
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'- ACAACCGCACTGAACTGCTAGG -3'
(R):5'- ACGGGCAACTACAATTAGGTGCTAC -3'
Sequencing Primer
(F):5'- CACTGAACTGCTAGGTGTAGG -3'
(R):5'- ATTTCCTTGGAGAGTTCCACG -3'
|
Posted On |
2013-05-09 |