Incidental Mutation 'IGL02946:Itgal'
| ID |
364750 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| 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: 0.169)
|
| Stock # |
IGL02946
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
7 |
| Chromosomal Location |
126895432-126934310 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 126913540 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Glycine
at position 682
(S682G)
|
| 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: S682G
PolyPhen 2
Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000101913
Gene: ENSMUSG00000030830
AA Change: S682G
| 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 damaging
Transcript: ENSMUST00000117762
AA Change: S682G
PolyPhen 2
Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000113946
Gene: ENSMUSG00000030830
AA Change: S682G
| 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 damaging
Transcript: ENSMUST00000118405
AA Change: S286G
PolyPhen 2
Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000112591
Gene: ENSMUSG00000030830
AA Change: S286G
| 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 |
possibly damaging
Transcript: ENSMUST00000120857
AA Change: S682G
PolyPhen 2
Score 0.903 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000113396
Gene: ENSMUSG00000030830
AA Change: S682G
| 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 damaging
Transcript: ENSMUST00000170971
AA Change: S682G
PolyPhen 2
Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000131847
Gene: ENSMUSG00000030830
AA Change: S682G
| 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 |
|
| 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: 39 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca8a |
G |
A |
11: 109,919,041 (GRCm39) |
|
probably benign |
Het |
| Actr3b |
T |
C |
5: 26,053,481 (GRCm39) |
I270T |
possibly damaging |
Het |
| Adgrf2 |
T |
C |
17: 43,021,384 (GRCm39) |
Y480C |
probably damaging |
Het |
| Arhgap27 |
T |
C |
11: 103,229,174 (GRCm39) |
T514A |
probably damaging |
Het |
| BC031181 |
C |
T |
18: 75,141,736 (GRCm39) |
|
probably benign |
Het |
| Cckbr |
C |
T |
7: 105,083,238 (GRCm39) |
A147V |
probably damaging |
Het |
| Ccm2 |
G |
A |
11: 6,546,195 (GRCm39) |
R335H |
probably damaging |
Het |
| Ces1d |
C |
A |
8: 93,896,346 (GRCm39) |
|
probably null |
Het |
| Crabp1 |
T |
C |
9: 54,672,232 (GRCm39) |
F16S |
possibly damaging |
Het |
| Crmp1 |
C |
T |
5: 37,441,424 (GRCm39) |
A502V |
probably damaging |
Het |
| Ehhadh |
A |
T |
16: 21,581,672 (GRCm39) |
V440D |
probably damaging |
Het |
| Galnt3 |
T |
A |
2: 65,925,562 (GRCm39) |
I392L |
probably damaging |
Het |
| Gm12689 |
T |
A |
4: 99,184,490 (GRCm39) |
N114K |
unknown |
Het |
| Hspa2 |
A |
G |
12: 76,451,947 (GRCm39) |
T214A |
probably damaging |
Het |
| Itga7 |
T |
C |
10: 128,769,952 (GRCm39) |
I32T |
probably benign |
Het |
| Kctd1 |
C |
T |
18: 15,107,036 (GRCm39) |
|
probably null |
Het |
| Lrp1b |
T |
A |
2: 41,202,571 (GRCm39) |
D439V |
probably damaging |
Het |
| Mdn1 |
A |
G |
4: 32,734,366 (GRCm39) |
K3258E |
probably damaging |
Het |
| Mgat4c |
T |
C |
10: 102,225,114 (GRCm39) |
S443P |
probably benign |
Het |
| Mylk |
G |
A |
16: 34,742,158 (GRCm39) |
G890E |
probably benign |
Het |
| Mylk2 |
T |
A |
2: 152,761,130 (GRCm39) |
L446* |
probably null |
Het |
| Niban1 |
A |
T |
1: 151,525,176 (GRCm39) |
I194F |
probably damaging |
Het |
| Or2t26 |
T |
G |
11: 49,039,719 (GRCm39) |
F212V |
probably damaging |
Het |
| Pi4k2b |
T |
C |
5: 52,910,549 (GRCm39) |
F278L |
probably damaging |
Het |
| Pitpnm3 |
A |
G |
11: 71,983,378 (GRCm39) |
S84P |
probably benign |
Het |
| Plxna2 |
T |
C |
1: 194,431,617 (GRCm39) |
|
probably benign |
Het |
| Prr5l |
C |
A |
2: 101,602,529 (GRCm39) |
|
probably null |
Het |
| Ptprs |
T |
C |
17: 56,731,032 (GRCm39) |
T719A |
probably benign |
Het |
| Rasa3 |
T |
C |
8: 13,648,280 (GRCm39) |
H128R |
probably benign |
Het |
| Rhox13 |
A |
G |
X: 37,218,652 (GRCm39) |
K205E |
probably damaging |
Het |
| Rif1 |
C |
A |
2: 52,000,137 (GRCm39) |
S1197* |
probably null |
Het |
| Sgta |
A |
G |
10: 80,885,612 (GRCm39) |
|
probably benign |
Het |
| Slc25a5 |
T |
A |
X: 36,061,506 (GRCm39) |
M239K |
probably damaging |
Het |
| Stil |
T |
A |
4: 114,887,110 (GRCm39) |
H734Q |
probably benign |
Het |
| Stk32b |
T |
C |
5: 37,688,883 (GRCm39) |
|
probably benign |
Het |
| Ubr4 |
T |
G |
4: 139,152,606 (GRCm39) |
F1999C |
probably damaging |
Het |
| Wfdc2 |
A |
C |
2: 164,406,009 (GRCm39) |
T86P |
probably benign |
Het |
| Zfp407 |
T |
C |
18: 84,578,834 (GRCm39) |
S760G |
probably damaging |
Het |
| Zfp668 |
A |
T |
7: 127,465,690 (GRCm39) |
L498Q |
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 |
|
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 |
|
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 |
|
| Posted On |
2015-12-18 |
Incidental Mutation