Incidental Mutation 'R9173:Itgal'
| ID |
696538 |
| 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 |
068947-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.143)
|
| Stock # |
R9173 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
7 |
| Chromosomal Location |
126895432-126934310 bp(+) (GRCm39) |
| Type of Mutation |
critical splice acceptor site |
| DNA Base Change (assembly) |
G to T
at 126896789 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000113396
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000106306]
[ENSMUST00000117762]
[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 null
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: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.5%
|
| 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: 55 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acaa1a |
G |
T |
9: 119,170,190 (GRCm39) |
|
probably benign |
Het |
| Clstn1 |
A |
G |
4: 149,710,564 (GRCm39) |
T79A |
probably benign |
Het |
| Cpd |
C |
T |
11: 76,699,649 (GRCm39) |
R634Q |
probably damaging |
Het |
| Ctnna2 |
T |
C |
6: 76,896,939 (GRCm39) |
D753G |
probably damaging |
Het |
| Cyp51 |
T |
C |
5: 4,136,504 (GRCm39) |
N430S |
probably benign |
Het |
| Dnajc17 |
A |
T |
2: 119,009,894 (GRCm39) |
V244D |
probably benign |
Het |
| Dusp9 |
TAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCTAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCTAAAGCGGAGGCCAAAGCGGAGGCCAAAG |
TAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCTAAAGCGGAGGCCAAAGCGGAGGCCAAAG |
X: 72,684,217 (GRCm39) |
|
probably benign |
Het |
| Dysf |
A |
G |
6: 84,171,379 (GRCm39) |
K1796E |
probably benign |
Het |
| Eftud2 |
A |
T |
11: 102,734,242 (GRCm39) |
V659E |
probably damaging |
Het |
| Ercc4 |
G |
A |
16: 12,939,973 (GRCm39) |
A168T |
possibly damaging |
Het |
| Exd2 |
T |
C |
12: 80,536,236 (GRCm39) |
Y289H |
probably benign |
Het |
| Fat2 |
C |
A |
11: 55,169,763 (GRCm39) |
V2999L |
probably damaging |
Het |
| Fgd5 |
T |
C |
6: 92,044,584 (GRCm39) |
|
probably null |
Het |
| Fkbp9 |
T |
C |
6: 56,850,389 (GRCm39) |
S422P |
possibly damaging |
Het |
| H2bc21 |
T |
C |
3: 96,128,615 (GRCm39) |
V45A |
possibly damaging |
Het |
| H2-Eb2 |
A |
G |
17: 34,552,491 (GRCm39) |
D112G |
probably benign |
Het |
| Herc2 |
A |
T |
7: 55,856,350 (GRCm39) |
R3929S |
probably damaging |
Het |
| Hrc |
G |
A |
7: 44,986,799 (GRCm39) |
|
probably null |
Het |
| Ighv5-8 |
T |
A |
12: 113,618,681 (GRCm39) |
V32D |
probably benign |
Het |
| Jcad |
T |
A |
18: 4,675,820 (GRCm39) |
V1194E |
probably benign |
Het |
| Kat8 |
A |
G |
7: 127,511,863 (GRCm39) |
T54A |
probably benign |
Het |
| Kcnu1 |
G |
A |
8: 26,390,074 (GRCm39) |
|
probably null |
Het |
| Klk15 |
C |
T |
7: 43,587,790 (GRCm39) |
H73Y |
possibly damaging |
Het |
| Lama1 |
A |
G |
17: 68,076,597 (GRCm39) |
T1124A |
|
Het |
| Lrp2 |
T |
A |
2: 69,299,731 (GRCm39) |
D3107V |
probably damaging |
Het |
| Map6 |
G |
A |
7: 98,917,935 (GRCm39) |
R236H |
probably damaging |
Het |
| Mycbpap |
T |
A |
11: 94,397,209 (GRCm39) |
N64I |
probably damaging |
Het |
| Nop14 |
A |
G |
5: 34,806,776 (GRCm39) |
S443P |
probably damaging |
Het |
| Nxn |
T |
C |
11: 76,149,560 (GRCm39) |
D380G |
possibly damaging |
Het |
| Or1e28-ps1 |
T |
A |
11: 73,615,734 (GRCm39) |
I39F |
possibly damaging |
Het |
| Patj |
A |
T |
4: 98,526,958 (GRCm39) |
M1390L |
probably benign |
Het |
| Pcyox1l |
A |
G |
18: 61,830,663 (GRCm39) |
L403P |
probably damaging |
Het |
| Peg10 |
T |
TCCC |
6: 4,756,451 (GRCm39) |
|
probably benign |
Het |
| Pkhd1l1 |
A |
G |
15: 44,384,152 (GRCm39) |
S1181G |
probably benign |
Het |
| Prom1 |
A |
T |
5: 44,220,520 (GRCm39) |
I76N |
possibly damaging |
Het |
| Relch |
A |
G |
1: 105,678,128 (GRCm39) |
E1151G |
probably benign |
Het |
| Rnft1 |
T |
C |
11: 86,377,001 (GRCm39) |
S22P |
probably benign |
Het |
| Sec31a |
T |
C |
5: 100,529,147 (GRCm39) |
T733A |
possibly damaging |
Het |
| Serpina1c |
A |
G |
12: 103,862,328 (GRCm39) |
I329T |
possibly damaging |
Het |
| Slco1a4 |
T |
C |
6: 141,761,299 (GRCm39) |
D438G |
probably benign |
Het |
| Slit2 |
G |
A |
5: 48,377,285 (GRCm39) |
C438Y |
probably damaging |
Het |
| Sorcs1 |
T |
A |
19: 50,220,753 (GRCm39) |
I566F |
possibly damaging |
Het |
| Spata31e5 |
T |
A |
1: 28,816,430 (GRCm39) |
E534V |
probably benign |
Het |
| Spata7 |
T |
A |
12: 98,603,853 (GRCm39) |
S73R |
probably damaging |
Het |
| Stau2 |
G |
A |
1: 16,444,933 (GRCm39) |
R332* |
probably null |
Het |
| Sytl3 |
T |
C |
17: 7,000,471 (GRCm39) |
F419L |
probably damaging |
Het |
| Tet1 |
A |
C |
10: 62,676,065 (GRCm39) |
D670E |
probably benign |
Het |
| Trafd1 |
T |
C |
5: 121,516,598 (GRCm39) |
R202G |
possibly damaging |
Het |
| Tubal3 |
A |
T |
13: 3,983,050 (GRCm39) |
T277S |
possibly damaging |
Het |
| Ube4b |
A |
G |
4: 149,415,933 (GRCm39) |
F1054L |
probably damaging |
Het |
| Unc13b |
C |
A |
4: 43,177,421 (GRCm39) |
Q2750K |
unknown |
Het |
| Usp29 |
T |
C |
7: 6,964,636 (GRCm39) |
S160P |
possibly damaging |
Het |
| Vmn2r114 |
A |
T |
17: 23,510,527 (GRCm39) |
I651N |
probably damaging |
Het |
| Ypel1 |
A |
T |
16: 16,915,298 (GRCm39) |
C103* |
probably null |
Het |
| Zfp11 |
A |
T |
5: 129,734,891 (GRCm39) |
I190N |
probably 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 |
|
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 |
|
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'- TAGTCTCTAGTCCAGGCCTCAG -3'
(R):5'- CTAGCAGACACTCGCAGAAG -3'
Sequencing Primer
(F):5'- TGTAGGCAGCCTCAGAGCATG -3'
(R):5'- GAGAGGCCAACCCCTGACATG -3'
|
| Posted On |
2022-02-07 |
Incidental Mutation