Incidental Mutation 'R1824:Itgal'
| ID |
206676 |
| 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 |
039852-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.143)
|
| Stock # |
R1824 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
7 |
| Chromosomal Location |
126895432-126934310 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 126913232 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Threonine
at position 610
(S610T)
|
| 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: S610T
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000101913
Gene: ENSMUSG00000030830
AA Change: S610T
| 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: S610T
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000113946
Gene: ENSMUSG00000030830
AA Change: S610T
| 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: S214T
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000112591
Gene: ENSMUSG00000030830
AA Change: S214T
| 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 damaging
Transcript: ENSMUST00000120857
AA Change: S610T
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000113396
Gene: ENSMUSG00000030830
AA Change: S610T
| 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: S610T
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000131847
Gene: ENSMUSG00000030830
AA Change: S610T
| 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 |
|
| Meta Mutation Damage Score |
0.6526 |
| Coding Region Coverage |
- 1x: 97.4%
- 3x: 96.8%
- 10x: 95.2%
- 20x: 92.2%
|
| 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: 103 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930533K18Rik |
T |
C |
10: 70,708,086 (GRCm39) |
|
noncoding transcript |
Het |
| Aadacl2fm1 |
C |
A |
3: 59,840,001 (GRCm39) |
Y24* |
probably null |
Het |
| Abl1 |
T |
A |
2: 31,690,656 (GRCm39) |
M706K |
probably benign |
Het |
| Abtb1 |
T |
C |
6: 88,813,536 (GRCm39) |
T401A |
probably benign |
Het |
| Acd |
A |
G |
8: 106,427,122 (GRCm39) |
L96P |
probably damaging |
Het |
| Arsi |
T |
A |
18: 61,045,369 (GRCm39) |
W20R |
probably damaging |
Het |
| Arsi |
G |
A |
18: 61,049,723 (GRCm39) |
G202E |
probably benign |
Het |
| Asic3 |
C |
T |
5: 24,618,749 (GRCm39) |
Q14* |
probably null |
Het |
| Asxl3 |
T |
A |
18: 22,655,125 (GRCm39) |
I1045N |
probably damaging |
Het |
| Atr |
T |
C |
9: 95,818,474 (GRCm39) |
I2149T |
probably damaging |
Het |
| Begain |
A |
G |
12: 108,999,025 (GRCm39) |
|
probably null |
Het |
| Brca2 |
C |
T |
5: 150,460,387 (GRCm39) |
T554I |
possibly damaging |
Het |
| Brd10 |
T |
C |
19: 29,693,814 (GRCm39) |
N1960S |
probably damaging |
Het |
| C1s2 |
C |
T |
6: 124,612,641 (GRCm39) |
V11I |
probably benign |
Het |
| Cacna1i |
T |
C |
15: 80,260,990 (GRCm39) |
F1333L |
possibly damaging |
Het |
| Camsap2 |
T |
C |
1: 136,201,521 (GRCm39) |
T662A |
possibly damaging |
Het |
| Cep164 |
C |
T |
9: 45,690,226 (GRCm39) |
V1367M |
probably damaging |
Het |
| Cfap46 |
C |
A |
7: 139,219,518 (GRCm39) |
A1316S |
probably benign |
Het |
| Cic |
T |
C |
7: 24,987,691 (GRCm39) |
S553P |
probably damaging |
Het |
| Cilk1 |
T |
A |
9: 78,065,144 (GRCm39) |
D351E |
probably benign |
Het |
| Clcn2 |
C |
T |
16: 20,534,712 (GRCm39) |
A12T |
probably benign |
Het |
| Clip2 |
A |
G |
5: 134,532,081 (GRCm39) |
Y540H |
probably benign |
Het |
| Coil |
A |
G |
11: 88,872,923 (GRCm39) |
N428S |
possibly damaging |
Het |
| Cpxm1 |
A |
C |
2: 130,237,617 (GRCm39) |
V196G |
probably damaging |
Het |
| Cr2 |
A |
G |
1: 194,839,624 (GRCm39) |
V601A |
probably damaging |
Het |
| Cyp3a25 |
T |
A |
5: 145,921,763 (GRCm39) |
K390N |
probably damaging |
Het |
| Dclre1a |
T |
C |
19: 56,535,150 (GRCm39) |
|
probably null |
Het |
| Dennd4a |
G |
C |
9: 64,766,640 (GRCm39) |
|
probably null |
Het |
| Dlg5 |
T |
C |
14: 24,199,512 (GRCm39) |
H1464R |
probably benign |
Het |
| Dmac2 |
T |
G |
7: 25,324,217 (GRCm39) |
M225R |
probably damaging |
Het |
| Dnah8 |
T |
C |
17: 30,950,154 (GRCm39) |
V1991A |
possibly damaging |
Het |
| Dscam |
A |
C |
16: 96,626,781 (GRCm39) |
V376G |
probably benign |
Het |
| Dync1li1 |
A |
G |
9: 114,538,252 (GRCm39) |
D203G |
probably benign |
Het |
| Eva1c |
A |
G |
16: 90,663,331 (GRCm39) |
T22A |
probably benign |
Het |
| Fam110b |
A |
G |
4: 5,799,029 (GRCm39) |
D149G |
probably benign |
Het |
| Fras1 |
A |
T |
5: 96,918,547 (GRCm39) |
I3528F |
probably damaging |
Het |
| Fsip1 |
T |
C |
2: 118,063,389 (GRCm39) |
D360G |
probably damaging |
Het |
| Galnt14 |
T |
C |
17: 74,016,934 (GRCm39) |
T41A |
probably benign |
Het |
| Gdf3 |
T |
A |
6: 122,586,921 (GRCm39) |
Q2L |
probably benign |
Het |
| Glrp1 |
A |
G |
1: 88,437,511 (GRCm39) |
|
probably null |
Het |
| Gm3336 |
C |
G |
8: 71,173,066 (GRCm39) |
|
probably null |
Het |
| Gm8674 |
C |
T |
13: 50,054,844 (GRCm39) |
|
noncoding transcript |
Het |
| Gnat1 |
A |
G |
9: 107,553,774 (GRCm39) |
Y226H |
probably damaging |
Het |
| Grk5 |
T |
C |
19: 61,078,410 (GRCm39) |
V489A |
probably damaging |
Het |
| H1f8 |
A |
G |
6: 115,925,719 (GRCm39) |
Y1C |
probably null |
Het |
| Igfbpl1 |
C |
A |
4: 45,826,406 (GRCm39) |
A130S |
probably benign |
Het |
| Impdh1 |
T |
A |
6: 29,205,087 (GRCm39) |
D261V |
probably benign |
Het |
| Jcad |
A |
G |
18: 4,649,293 (GRCm39) |
T55A |
probably benign |
Het |
| Jup |
G |
A |
11: 100,264,963 (GRCm39) |
R663* |
probably null |
Het |
| Kalrn |
C |
T |
16: 34,114,585 (GRCm39) |
G556D |
probably damaging |
Het |
| Krt81 |
T |
C |
15: 101,358,020 (GRCm39) |
E411G |
probably damaging |
Het |
| Lcat |
T |
C |
8: 106,666,520 (GRCm39) |
E334G |
probably damaging |
Het |
| Lhcgr |
T |
C |
17: 89,057,585 (GRCm39) |
E302G |
probably benign |
Het |
| Magi1 |
A |
G |
6: 93,676,620 (GRCm39) |
V913A |
possibly damaging |
Het |
| Mrpl19 |
A |
T |
6: 81,941,060 (GRCm39) |
|
probably null |
Het |
| Muc4 |
G |
T |
16: 32,576,307 (GRCm39) |
|
probably benign |
Het |
| Mycbp2 |
A |
G |
14: 103,489,945 (GRCm39) |
V953A |
possibly damaging |
Het |
| Myo3a |
G |
A |
2: 22,401,054 (GRCm39) |
V600I |
probably benign |
Het |
| Ndufv3 |
G |
A |
17: 31,750,219 (GRCm39) |
R467Q |
probably damaging |
Het |
| Ngef |
A |
G |
1: 87,430,986 (GRCm39) |
|
probably null |
Het |
| Nisch |
A |
T |
14: 30,898,389 (GRCm39) |
|
probably benign |
Het |
| Nlrp4c |
G |
A |
7: 6,069,955 (GRCm39) |
|
probably null |
Het |
| Nup153 |
A |
T |
13: 46,867,223 (GRCm39) |
S154T |
probably damaging |
Het |
| Obscn |
A |
G |
11: 58,885,658 (GRCm39) |
|
probably benign |
Het |
| Or2t1 |
T |
A |
14: 14,328,774 (GRCm38) |
L221Q |
probably damaging |
Het |
| Or4a74 |
G |
T |
2: 89,439,693 (GRCm39) |
P251H |
probably damaging |
Het |
| Or6c219 |
T |
C |
10: 129,781,206 (GRCm39) |
M242V |
possibly damaging |
Het |
| Otogl |
T |
C |
10: 107,615,692 (GRCm39) |
N1869S |
probably benign |
Het |
| Phf24 |
G |
T |
4: 42,934,661 (GRCm39) |
C136F |
probably damaging |
Het |
| Phldb2 |
A |
T |
16: 45,646,374 (GRCm39) |
V65E |
probably benign |
Het |
| Pkhd1 |
C |
A |
1: 20,417,681 (GRCm39) |
G2490V |
probably damaging |
Het |
| Prl8a8 |
A |
T |
13: 27,692,433 (GRCm39) |
M186K |
probably damaging |
Het |
| Qars1 |
T |
C |
9: 108,391,809 (GRCm39) |
V70A |
probably damaging |
Het |
| Rac1 |
C |
T |
5: 143,502,980 (GRCm39) |
V14I |
probably benign |
Het |
| Rapgef5 |
T |
A |
12: 117,652,419 (GRCm39) |
|
probably null |
Het |
| Slc16a12 |
G |
A |
19: 34,648,278 (GRCm39) |
T405M |
possibly damaging |
Het |
| Slc17a6 |
A |
G |
7: 51,311,294 (GRCm39) |
Y336C |
probably damaging |
Het |
| Slc30a9 |
T |
C |
5: 67,505,395 (GRCm39) |
L441P |
probably damaging |
Het |
| Slc45a2 |
T |
C |
15: 11,022,172 (GRCm39) |
S305P |
probably damaging |
Het |
| Sod3 |
G |
T |
5: 52,525,504 (GRCm39) |
V68L |
probably benign |
Het |
| Sp1 |
T |
G |
15: 102,339,438 (GRCm39) |
S773A |
possibly damaging |
Het |
| Spen |
C |
A |
4: 141,200,096 (GRCm39) |
G2821C |
probably damaging |
Het |
| Tagap1 |
A |
G |
17: 7,223,425 (GRCm39) |
S424P |
probably benign |
Het |
| Tbc1d22a |
T |
C |
15: 86,119,770 (GRCm39) |
V22A |
possibly damaging |
Het |
| Tfec |
C |
T |
6: 16,840,467 (GRCm39) |
|
probably null |
Het |
| Thsd7a |
A |
T |
6: 12,409,041 (GRCm39) |
|
probably null |
Het |
| Tnfsf15 |
C |
A |
4: 63,651,588 (GRCm39) |
G112V |
probably benign |
Het |
| Tnfsf9 |
A |
G |
17: 57,412,738 (GRCm39) |
T103A |
probably benign |
Het |
| Tnxb |
C |
T |
17: 34,911,307 (GRCm39) |
R1537* |
probably null |
Het |
| Tpra1 |
A |
G |
6: 88,888,805 (GRCm39) |
N329S |
probably benign |
Het |
| Ttc12 |
A |
G |
9: 49,368,184 (GRCm39) |
F281S |
probably damaging |
Het |
| Unc79 |
A |
G |
12: 103,025,579 (GRCm39) |
N322S |
probably damaging |
Het |
| Unk |
G |
T |
11: 115,921,268 (GRCm39) |
|
probably benign |
Het |
| Usp4 |
G |
T |
9: 108,225,207 (GRCm39) |
G31W |
probably damaging |
Het |
| Vcan |
G |
T |
13: 89,853,331 (GRCm39) |
A543D |
possibly damaging |
Het |
| Vil1 |
A |
C |
1: 74,457,606 (GRCm39) |
I80L |
probably benign |
Het |
| Vmn2r27 |
C |
T |
6: 124,208,593 (GRCm39) |
G51S |
probably benign |
Het |
| Vpreb1a |
A |
G |
16: 16,686,935 (GRCm39) |
|
probably null |
Het |
| Zbtb6 |
C |
T |
2: 37,319,829 (GRCm39) |
C33Y |
probably damaging |
Het |
| Zfp330 |
A |
T |
8: 83,492,644 (GRCm39) |
C189* |
probably null |
Het |
| Zfp942 |
T |
A |
17: 22,147,522 (GRCm39) |
H369L |
probably damaging |
Het |
| Zfp943 |
T |
A |
17: 22,211,361 (GRCm39) |
I149K |
probably benign |
Het |
| Zfyve19 |
G |
A |
2: 119,042,016 (GRCm39) |
V162M |
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 |
|
|
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'- TTTACCTGCTGAGCCACATCAC -3'
(R):5'- GAACTGACCTTGAAACTGTGG -3'
Sequencing Primer
(F):5'- AAGTTAATCTATTGGGCTACATGTGG -3'
(R):5'- ACCTTGAAACTGTGGCGTGAG -3'
|
| Posted On |
2014-06-23 |
Incidental Mutation