Incidental Mutation 'R7454:Itgal'
| ID |
577995 |
| 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 |
045528-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.169)
|
| Stock # |
R7454 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
126895432-126934310 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 126926936 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamine to Lysine
at position 943
(Q943K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000113396
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000106306]
[ENSMUST00000117762]
[ENSMUST00000118405]
[ENSMUST00000120857]
[ENSMUST00000170971]
|
| AlphaFold |
P24063 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000106306
AA Change: Q944K
PolyPhen 2
Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)
|
| SMART Domains |
Protein: ENSMUSP00000101913
Gene: ENSMUSG00000030830
AA Change: Q944K
| 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
AA Change: Q943K
PolyPhen 2
Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)
|
| SMART Domains |
Protein: ENSMUSP00000113946
Gene: ENSMUSG00000030830
AA Change: Q943K
| 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: ENSMUST00000118405
AA Change: Q547K
PolyPhen 2
Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)
|
| SMART Domains |
Protein: ENSMUSP00000112591
Gene: ENSMUSG00000030830
AA Change: Q547K
| 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 benign
Transcript: ENSMUST00000120857
AA Change: Q943K
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000113396
Gene: ENSMUSG00000030830
AA Change: Q943K
| 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
AA Change: Q943K
PolyPhen 2
Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)
|
| SMART Domains |
Protein: ENSMUSP00000131847
Gene: ENSMUSG00000030830
AA Change: Q943K
| 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: 99.7%
- 20x: 99.1%
|
| Validation Efficiency |
100% (90/90) |
| 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: 89 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2510002D24Rik |
A |
G |
16: 18,655,601 (GRCm39) |
E57G |
possibly damaging |
Het |
| 4932414N04Rik |
C |
A |
2: 68,518,648 (GRCm39) |
T159K |
unknown |
Het |
| Adamts10 |
T |
A |
17: 33,763,979 (GRCm39) |
F616L |
possibly damaging |
Het |
| Adtrp |
G |
A |
13: 41,981,791 (GRCm39) |
S26L |
unknown |
Het |
| Alpk3 |
A |
C |
7: 80,728,310 (GRCm39) |
E480A |
probably benign |
Het |
| Anks6 |
T |
C |
4: 47,038,919 (GRCm39) |
T529A |
unknown |
Het |
| Arl4d |
A |
G |
11: 101,557,486 (GRCm39) |
H4R |
probably benign |
Het |
| Ash1l |
A |
G |
3: 88,891,172 (GRCm39) |
H1017R |
probably benign |
Het |
| Bbs12 |
T |
C |
3: 37,375,102 (GRCm39) |
S517P |
possibly damaging |
Het |
| Bcl11b |
C |
A |
12: 107,882,467 (GRCm39) |
R616L |
possibly damaging |
Het |
| Bean1 |
G |
A |
8: 104,937,658 (GRCm39) |
G79D |
probably damaging |
Het |
| Bicra |
C |
G |
7: 15,706,059 (GRCm39) |
G1461R |
probably benign |
Het |
| Bptf |
T |
C |
11: 106,935,466 (GRCm39) |
T124A |
probably benign |
Het |
| Btnl4 |
A |
T |
17: 34,691,348 (GRCm39) |
V312E |
probably benign |
Het |
| Ccdc7a |
A |
G |
8: 129,670,997 (GRCm39) |
M503T |
unknown |
Het |
| Celf5 |
T |
C |
10: 81,318,357 (GRCm39) |
E28G |
probably damaging |
Het |
| Cilp2 |
G |
A |
8: 70,336,040 (GRCm39) |
L350F |
probably damaging |
Het |
| Clec4a2 |
T |
C |
6: 123,119,411 (GRCm39) |
I245T |
probably damaging |
Het |
| Ctnnal1 |
A |
T |
4: 56,844,544 (GRCm39) |
V140D |
probably damaging |
Het |
| Dennd4a |
A |
C |
9: 64,759,852 (GRCm39) |
H319P |
probably damaging |
Het |
| Dlgap3 |
G |
T |
4: 127,128,852 (GRCm39) |
L857F |
probably null |
Het |
| Dnah6 |
T |
A |
6: 73,189,475 (GRCm39) |
T58S |
probably damaging |
Het |
| Dnah7a |
T |
A |
1: 53,557,923 (GRCm39) |
M2164L |
probably benign |
Het |
| Dspp |
T |
A |
5: 104,323,476 (GRCm39) |
H206Q |
probably benign |
Het |
| Dzip1l |
G |
A |
9: 99,541,727 (GRCm39) |
V443M |
possibly damaging |
Het |
| Erc2 |
A |
G |
14: 28,024,948 (GRCm39) |
H939R |
possibly damaging |
Het |
| Fam149a |
G |
T |
8: 45,801,583 (GRCm39) |
H513N |
probably benign |
Het |
| Fam171a2 |
T |
C |
11: 102,330,543 (GRCm39) |
T280A |
possibly damaging |
Het |
| Fkbp5 |
A |
C |
17: 28,634,999 (GRCm39) |
V170G |
probably damaging |
Het |
| Fnbp4 |
ACCACCTCCACCTCCACCTCC |
ACCACCTCCACCTCCACCTCCACCTCC |
2: 90,608,159 (GRCm39) |
|
probably benign |
Het |
| Fzd2 |
T |
C |
11: 102,495,955 (GRCm39) |
F133S |
probably damaging |
Het |
| Galm |
A |
G |
17: 80,445,550 (GRCm39) |
N100S |
possibly damaging |
Het |
| Gbp2b |
T |
A |
3: 142,303,920 (GRCm39) |
I5N |
possibly damaging |
Het |
| Gga2 |
T |
C |
7: 121,601,369 (GRCm39) |
R245G |
probably benign |
Het |
| Gm10053 |
A |
G |
19: 24,853,264 (GRCm39) |
T50A |
probably benign |
Het |
| Gm1110 |
T |
C |
9: 26,831,945 (GRCm39) |
T69A |
probably benign |
Het |
| Heatr5a |
T |
C |
12: 52,008,326 (GRCm39) |
S6G |
probably benign |
Het |
| Hmcn1 |
A |
G |
1: 150,439,355 (GRCm39) |
S5610P |
probably damaging |
Het |
| Hmgb4 |
A |
G |
4: 128,154,199 (GRCm39) |
V123A |
probably damaging |
Het |
| Jakmip1 |
C |
A |
5: 37,332,498 (GRCm39) |
D1059E |
probably damaging |
Het |
| Jazf1 |
T |
C |
6: 52,870,929 (GRCm39) |
|
probably null |
Het |
| Kat6a |
A |
G |
8: 23,425,788 (GRCm39) |
E1111G |
possibly damaging |
Het |
| Kdm4b |
C |
A |
17: 56,696,639 (GRCm39) |
P452T |
probably benign |
Het |
| Krit1 |
T |
C |
5: 3,862,474 (GRCm39) |
Y210H |
probably damaging |
Het |
| Krtap6-2 |
A |
T |
16: 89,216,800 (GRCm39) |
Y56N |
unknown |
Het |
| Lig1 |
A |
T |
7: 13,022,647 (GRCm39) |
D158V |
probably damaging |
Het |
| Lmo1 |
A |
T |
7: 108,739,873 (GRCm39) |
L94Q |
probably benign |
Het |
| Lrrc30 |
A |
T |
17: 67,939,238 (GRCm39) |
L114H |
probably damaging |
Het |
| Ltn1 |
T |
C |
16: 87,194,700 (GRCm39) |
I1400V |
probably benign |
Het |
| Mark3 |
T |
C |
12: 111,570,961 (GRCm39) |
I87T |
probably damaging |
Het |
| Mfrp |
G |
T |
9: 44,016,480 (GRCm39) |
V392F |
possibly damaging |
Het |
| Mrgprg |
A |
G |
7: 143,318,872 (GRCm39) |
L80P |
probably damaging |
Het |
| Ndufaf3 |
A |
T |
9: 108,444,125 (GRCm39) |
M1K |
probably null |
Het |
| Nme7 |
T |
A |
1: 164,208,217 (GRCm39) |
L295* |
probably null |
Het |
| Noct |
G |
T |
3: 51,157,151 (GRCm39) |
C163F |
probably damaging |
Het |
| Or11h4b |
T |
A |
14: 50,918,281 (GRCm39) |
Q270L |
possibly damaging |
Het |
| Or13a26 |
A |
T |
7: 140,284,547 (GRCm39) |
I128F |
probably damaging |
Het |
| Or4b1 |
T |
A |
2: 89,979,763 (GRCm39) |
I196F |
possibly damaging |
Het |
| Or5ak22 |
T |
A |
2: 85,229,955 (GRCm39) |
K307N |
probably damaging |
Het |
| Or6c203 |
T |
A |
10: 129,010,324 (GRCm39) |
T189S |
probably damaging |
Het |
| Or8g2 |
A |
G |
9: 39,821,200 (GRCm39) |
I34V |
probably benign |
Het |
| Patz1 |
C |
T |
11: 3,248,297 (GRCm39) |
|
probably benign |
Het |
| Per3 |
A |
G |
4: 151,097,185 (GRCm39) |
L780P |
probably benign |
Het |
| Pira1 |
T |
G |
7: 3,738,509 (GRCm39) |
E622D |
probably benign |
Het |
| Pla2g4a |
T |
C |
1: 149,748,441 (GRCm39) |
M256V |
possibly damaging |
Het |
| Pnliprp1 |
A |
G |
19: 58,729,532 (GRCm39) |
K395R |
probably benign |
Het |
| Poc5 |
G |
T |
13: 96,537,340 (GRCm39) |
G242V |
possibly damaging |
Het |
| Ppfia4 |
A |
G |
1: 134,251,873 (GRCm39) |
S434P |
possibly damaging |
Het |
| Prss42 |
A |
G |
9: 110,627,897 (GRCm39) |
N110S |
probably benign |
Het |
| Ralgapb |
T |
A |
2: 158,274,822 (GRCm39) |
I241N |
possibly damaging |
Het |
| Rbak |
A |
C |
5: 143,159,528 (GRCm39) |
Y508* |
probably null |
Het |
| S1pr2 |
G |
T |
9: 20,878,845 (GRCm39) |
R328S |
possibly damaging |
Het |
| Sap130 |
T |
C |
18: 31,783,565 (GRCm39) |
M214T |
probably benign |
Het |
| Slc46a1 |
T |
A |
11: 78,357,337 (GRCm39) |
V130E |
probably damaging |
Het |
| Smc4 |
A |
T |
3: 68,925,457 (GRCm39) |
H343L |
probably benign |
Het |
| Tarbp1 |
C |
A |
8: 127,184,416 (GRCm39) |
R500L |
probably benign |
Het |
| Tasor2 |
A |
G |
13: 3,635,332 (GRCm39) |
S492P |
probably benign |
Het |
| Tgfbr3 |
A |
T |
5: 107,362,894 (GRCm39) |
H39Q |
probably damaging |
Het |
| Tpp2 |
T |
C |
1: 43,993,819 (GRCm39) |
S235P |
probably benign |
Het |
| Trbc2 |
G |
T |
6: 41,523,763 (GRCm39) |
R33M |
|
Het |
| Trim3 |
C |
T |
7: 105,268,765 (GRCm39) |
R63Q |
probably damaging |
Het |
| Ttc28 |
T |
C |
5: 111,433,350 (GRCm39) |
V2128A |
probably benign |
Het |
| Ttn |
C |
T |
2: 76,556,162 (GRCm39) |
R30281H |
probably damaging |
Het |
| Ttn |
T |
A |
2: 76,774,483 (GRCm39) |
Q2187L |
unknown |
Het |
| Ttyh3 |
T |
C |
5: 140,615,180 (GRCm39) |
S403G |
possibly damaging |
Het |
| Vmn2r112 |
A |
T |
17: 22,822,288 (GRCm39) |
D322V |
probably benign |
Het |
| Wdr38 |
C |
T |
2: 38,888,352 (GRCm39) |
|
probably benign |
Het |
| Xrn1 |
T |
A |
9: 95,930,411 (GRCm39) |
S1543R |
probably benign |
Het |
| Zbtb8b |
G |
A |
4: 129,326,562 (GRCm39) |
T201I |
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 |
|
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 |
|
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'- TCTAGATGACAAGGTGCCTCTG -3'
(R):5'- AGTGCATCATGACAGACCAC -3'
Sequencing Primer
(F):5'- TCTGAAGGCCCCAGCACAG -3'
(R):5'- GGCTGCTCTTCTAAAGGACTCAG -3'
|
| Posted On |
2019-10-07 |
Incidental Mutation