Incidental Mutation 'R4466:Itgal'
ID |
330354 |
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 |
041723-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.143)
|
Stock # |
R4466 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
7 |
Chromosomal Location |
126895432-126934310 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 126927684 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Isoleucine
at position 992
(T992I)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000131847
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000106306]
[ENSMUST00000117762]
[ENSMUST00000118405]
[ENSMUST00000120857]
[ENSMUST00000170971]
|
AlphaFold |
P24063 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000106306
AA Change: T993I
PolyPhen 2
Score 0.929 (Sensitivity: 0.81; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000101913 Gene: ENSMUSG00000030830 AA Change: T993I
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 |
possibly damaging
Transcript: ENSMUST00000117762
AA Change: T992I
PolyPhen 2
Score 0.929 (Sensitivity: 0.81; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000113946 Gene: ENSMUSG00000030830 AA Change: T992I
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 |
possibly damaging
Transcript: ENSMUST00000118405
AA Change: T596I
PolyPhen 2
Score 0.929 (Sensitivity: 0.81; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000112591 Gene: ENSMUSG00000030830 AA Change: T596I
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: T992I
PolyPhen 2
Score 0.929 (Sensitivity: 0.81; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000113396 Gene: ENSMUSG00000030830 AA Change: T992I
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 |
possibly damaging
Transcript: ENSMUST00000170971
AA Change: T992I
PolyPhen 2
Score 0.929 (Sensitivity: 0.81; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000131847 Gene: ENSMUSG00000030830 AA Change: T992I
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: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.4%
|
Validation Efficiency |
98% (55/56) |
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: 49 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4930449A18Rik |
A |
T |
3: 59,745,887 (GRCm39) |
|
noncoding transcript |
Het |
Adgra1 |
T |
A |
7: 139,420,752 (GRCm39) |
|
probably benign |
Het |
Akap13 |
T |
A |
7: 75,252,521 (GRCm39) |
|
probably null |
Het |
Amn1 |
T |
C |
6: 149,068,343 (GRCm39) |
|
probably null |
Het |
Ano5 |
T |
A |
7: 51,220,023 (GRCm39) |
F374I |
probably damaging |
Het |
Apol7c |
T |
C |
15: 77,410,664 (GRCm39) |
E94G |
probably benign |
Het |
Arid4b |
A |
T |
13: 14,307,095 (GRCm39) |
S117C |
probably damaging |
Het |
Atm |
C |
A |
9: 53,359,469 (GRCm39) |
E2778* |
probably null |
Het |
Cped1 |
A |
T |
6: 22,123,651 (GRCm39) |
Q468L |
probably benign |
Het |
Crygb |
A |
G |
1: 65,119,645 (GRCm39) |
S112P |
probably damaging |
Het |
Eeig2 |
T |
A |
3: 108,887,124 (GRCm39) |
R291S |
probably benign |
Het |
Eml4 |
C |
T |
17: 83,729,103 (GRCm39) |
Q93* |
probably null |
Het |
Eps15 |
G |
A |
4: 109,223,727 (GRCm39) |
|
probably benign |
Het |
Fabp3 |
C |
T |
4: 130,206,180 (GRCm39) |
T57I |
probably benign |
Het |
Fhad1 |
A |
T |
4: 141,684,969 (GRCm39) |
S457T |
probably damaging |
Het |
Frmd4b |
A |
G |
6: 97,300,614 (GRCm39) |
|
probably null |
Het |
Gm5134 |
G |
C |
10: 75,844,409 (GRCm39) |
K588N |
probably benign |
Het |
Gpr21 |
A |
G |
2: 37,407,570 (GRCm39) |
T39A |
probably benign |
Het |
Irx1 |
C |
A |
13: 72,108,101 (GRCm39) |
G194W |
probably damaging |
Het |
Itpr3 |
T |
C |
17: 27,325,316 (GRCm39) |
L1303P |
probably damaging |
Het |
Kdm2a |
A |
T |
19: 4,370,328 (GRCm39) |
D1052E |
probably damaging |
Het |
Klhl6 |
T |
C |
16: 19,776,018 (GRCm39) |
D180G |
probably damaging |
Het |
M6pr |
A |
G |
6: 122,290,228 (GRCm39) |
T64A |
probably benign |
Het |
Mrpl47 |
G |
A |
3: 32,784,240 (GRCm39) |
R177* |
probably null |
Het |
Mtfr2 |
A |
G |
10: 20,224,159 (GRCm39) |
Y31C |
probably damaging |
Het |
Mup6 |
T |
C |
4: 60,004,000 (GRCm39) |
I31T |
probably damaging |
Het |
Oas2 |
A |
G |
5: 120,887,667 (GRCm39) |
S58P |
probably damaging |
Het |
Or1j11 |
A |
T |
2: 36,312,308 (GRCm39) |
R299S |
probably benign |
Het |
Or5b124 |
G |
A |
19: 13,610,801 (GRCm39) |
E109K |
probably damaging |
Het |
Or8b36 |
T |
A |
9: 37,937,479 (GRCm39) |
C126S |
probably damaging |
Het |
Polr1b |
A |
T |
2: 128,965,802 (GRCm39) |
I815L |
probably benign |
Het |
Psma8 |
T |
C |
18: 14,854,231 (GRCm39) |
I37T |
possibly damaging |
Het |
Ryr3 |
T |
C |
2: 112,483,447 (GRCm39) |
E4100G |
possibly damaging |
Het |
Serpina3g |
C |
T |
12: 104,204,182 (GRCm39) |
|
probably benign |
Het |
Serpina3m |
A |
T |
12: 104,357,874 (GRCm39) |
Y266F |
probably damaging |
Het |
Sez6l2 |
T |
A |
7: 126,559,023 (GRCm39) |
D423E |
probably damaging |
Het |
Sh3gl2 |
A |
G |
4: 85,299,688 (GRCm39) |
E224G |
possibly damaging |
Het |
Sh3pxd2a |
A |
G |
19: 47,353,146 (GRCm39) |
V105A |
possibly damaging |
Het |
Slc24a2 |
A |
T |
4: 87,146,099 (GRCm39) |
|
probably benign |
Het |
Smyd2 |
A |
G |
1: 189,614,349 (GRCm39) |
M393T |
probably benign |
Het |
Sox8 |
C |
A |
17: 25,787,879 (GRCm39) |
G190V |
probably benign |
Het |
Stag2 |
A |
G |
X: 41,322,749 (GRCm39) |
S400G |
probably benign |
Het |
Stk35 |
C |
A |
2: 129,643,436 (GRCm39) |
T140K |
probably damaging |
Het |
Taf6 |
A |
C |
5: 138,179,463 (GRCm39) |
|
probably benign |
Het |
Ten1 |
A |
C |
11: 116,095,823 (GRCm39) |
|
probably benign |
Het |
Tmem181a |
T |
A |
17: 6,346,061 (GRCm39) |
L185H |
probably damaging |
Het |
Ttn |
A |
G |
2: 76,544,044 (GRCm39) |
F32981L |
probably damaging |
Het |
Zik1 |
G |
T |
7: 10,224,893 (GRCm39) |
T68K |
probably benign |
Het |
Zzef1 |
T |
A |
11: 72,815,485 (GRCm39) |
I2935N |
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 |
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 |
|
Posted On |
2015-07-21 |