Incidental Mutation 'R8923:Itgal'
| ID |
679397 |
| 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 |
068768-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.143)
|
| Stock # |
R8923 (G1)
|
| Quality Score |
112.008 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
126895432-126934310 bp(+) (GRCm39) |
| Type of Mutation |
unclassified |
| DNA Base Change (assembly) |
A to T
at 126895533 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000131847
(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 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: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.6%
|
| Validation Efficiency |
98% (53/54) |
| 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: 53 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ano1 |
A |
G |
7: 144,204,288 (GRCm39) |
Y308H |
possibly damaging |
Het |
| Ano6 |
T |
C |
15: 95,811,428 (GRCm39) |
I176T |
probably damaging |
Het |
| Ap3b2 |
T |
C |
7: 81,126,931 (GRCm39) |
E273G |
probably benign |
Het |
| Arid1a |
A |
G |
4: 133,412,304 (GRCm39) |
I1245T |
unknown |
Het |
| Ash1l |
T |
C |
3: 88,892,974 (GRCm39) |
S1618P |
possibly damaging |
Het |
| Atp5f1e |
G |
T |
2: 174,304,309 (GRCm39) |
S49* |
probably null |
Het |
| Bsdc1 |
C |
T |
4: 129,355,405 (GRCm39) |
|
probably benign |
Het |
| Ccni |
T |
C |
5: 93,335,943 (GRCm39) |
H152R |
probably damaging |
Het |
| Cdk5 |
A |
G |
5: 24,625,284 (GRCm39) |
V208A |
possibly damaging |
Het |
| Cmtm5 |
G |
A |
14: 55,176,345 (GRCm39) |
D137N |
probably damaging |
Het |
| Cyp3a41b |
A |
G |
5: 145,521,448 (GRCm39) |
M1T |
probably null |
Het |
| Cyp3a44 |
A |
T |
5: 145,736,171 (GRCm39) |
V93E |
probably damaging |
Het |
| Dhrs2 |
A |
T |
14: 55,478,309 (GRCm39) |
I241F |
probably benign |
Het |
| Dip2c |
A |
G |
13: 9,673,901 (GRCm39) |
T1114A |
probably damaging |
Het |
| Dsel |
T |
C |
1: 111,788,284 (GRCm39) |
I750M |
possibly damaging |
Het |
| Dync2h1 |
T |
C |
9: 7,168,515 (GRCm39) |
K398E |
probably benign |
Het |
| Efcab12 |
G |
C |
6: 115,787,982 (GRCm39) |
T660S |
possibly damaging |
Het |
| Ep400 |
A |
G |
5: 110,831,864 (GRCm39) |
L2126P |
unknown |
Het |
| Ercc1 |
T |
A |
7: 19,081,062 (GRCm39) |
|
probably benign |
Het |
| Flnc |
G |
T |
6: 29,452,236 (GRCm39) |
D1687Y |
probably damaging |
Het |
| Frrs1 |
A |
T |
3: 116,696,070 (GRCm39) |
I530F |
possibly damaging |
Het |
| Gp5 |
G |
T |
16: 30,128,222 (GRCm39) |
L151I |
probably damaging |
Het |
| H2-Q5 |
A |
G |
17: 35,613,982 (GRCm39) |
D177G |
|
Het |
| Klhl33 |
A |
T |
14: 51,129,882 (GRCm39) |
C277* |
probably null |
Het |
| Lefty1 |
T |
A |
1: 180,765,318 (GRCm39) |
C295* |
probably null |
Het |
| Lmo7 |
A |
T |
14: 102,137,679 (GRCm39) |
T794S |
probably benign |
Het |
| Mss51 |
A |
G |
14: 20,537,177 (GRCm39) |
M97T |
possibly damaging |
Het |
| Mtmr11 |
C |
T |
3: 96,072,188 (GRCm39) |
P262S |
probably damaging |
Het |
| Muc15 |
A |
T |
2: 110,562,212 (GRCm39) |
N216I |
probably damaging |
Het |
| Muc16 |
A |
T |
9: 18,549,972 (GRCm39) |
D5440E |
probably benign |
Het |
| Myt1l |
A |
G |
12: 29,960,800 (GRCm39) |
K1038E |
unknown |
Het |
| Naa15 |
G |
A |
3: 51,367,443 (GRCm39) |
V539M |
probably damaging |
Het |
| Or10al2 |
A |
T |
17: 37,983,702 (GRCm39) |
I263F |
probably benign |
Het |
| Or1e26 |
T |
C |
11: 73,480,076 (GRCm39) |
I163V |
probably benign |
Het |
| Or5ac20 |
G |
C |
16: 59,104,399 (GRCm39) |
L154V |
probably benign |
Het |
| Parpbp |
C |
T |
10: 87,947,474 (GRCm39) |
V387I |
probably benign |
Het |
| Pbxip1 |
T |
C |
3: 89,352,921 (GRCm39) |
I189T |
possibly damaging |
Het |
| Prkci |
T |
A |
3: 31,095,250 (GRCm39) |
Y111* |
probably null |
Het |
| Prkd2 |
C |
G |
7: 16,599,682 (GRCm39) |
T715R |
probably damaging |
Het |
| Rab40c |
A |
C |
17: 26,102,664 (GRCm39) |
S262A |
probably benign |
Het |
| Rad51d |
A |
G |
11: 82,773,798 (GRCm39) |
L164P |
probably damaging |
Het |
| Rgs22 |
T |
A |
15: 36,093,106 (GRCm39) |
K513I |
probably damaging |
Het |
| Rubcn |
G |
T |
16: 32,646,049 (GRCm39) |
T828K |
probably damaging |
Het |
| Sdha |
G |
A |
13: 74,487,179 (GRCm39) |
T203M |
probably damaging |
Het |
| Sesn3 |
T |
C |
9: 14,217,562 (GRCm39) |
|
probably null |
Het |
| Spag8 |
T |
A |
4: 43,651,471 (GRCm39) |
T468S |
probably damaging |
Het |
| Spdl1 |
T |
C |
11: 34,704,478 (GRCm39) |
K452E |
possibly damaging |
Het |
| Stat5a |
T |
C |
11: 100,771,308 (GRCm39) |
F597S |
|
Het |
| Sult1b1 |
A |
C |
5: 87,662,893 (GRCm39) |
F269C |
probably damaging |
Het |
| Ubap1 |
A |
G |
4: 41,379,170 (GRCm39) |
N128S |
probably benign |
Het |
| Utp20 |
G |
A |
10: 88,627,604 (GRCm39) |
Q954* |
probably null |
Het |
| Vmn1r173 |
T |
A |
7: 23,401,768 (GRCm39) |
M1K |
probably null |
Het |
| Wdfy1 |
A |
G |
1: 79,684,017 (GRCm39) |
S373P |
probably benign |
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 |
|
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'- AATTTAACCGCCTTGCTGTCTG -3'
(R):5'- TTTCCCCTGTCACAGACAAC -3'
Sequencing Primer
(F):5'- CTGCTCTTGGATGATGTGAAAATGC -3'
(R):5'- GTCACAGACAACGTCCCTTTC -3'
|
| Posted On |
2021-08-02 |
Incidental Mutation