Incidental Mutation 'BB017:Itgad'
| ID |
642951 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Itgad
|
| Ensembl Gene |
ENSMUSG00000070369 |
| Gene Name |
integrin, alpha D |
| Synonyms |
Cd11d |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.058)
|
| Stock # |
BB017
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
7 |
| Chromosomal Location |
127773105-127822988 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 127782280 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamine to Lysine
at position 239
(Q239K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000033051
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000033051]
[ENSMUST00000106237]
[ENSMUST00000177111]
|
| AlphaFold |
Q3V0T4 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000033051
AA Change: Q239K
PolyPhen 2
Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
|
| SMART Domains |
Protein: ENSMUSP00000033051
Gene: ENSMUSG00000070369
AA Change: Q239K
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
24 |
N/A |
INTRINSIC |
|
Int_alpha
|
38 |
88 |
1.35e1 |
SMART |
|
VWA
|
155 |
376 |
1.24e-36 |
SMART |
|
Blast:VWA
|
405 |
436 |
1e-9 |
BLAST |
|
Int_alpha
|
443 |
492 |
3.67e-3 |
SMART |
|
Int_alpha
|
496 |
553 |
1.03e-6 |
SMART |
|
Int_alpha
|
559 |
615 |
1.73e-13 |
SMART |
|
Int_alpha
|
622 |
676 |
1.69e-2 |
SMART |
|
transmembrane domain
|
1142 |
1164 |
N/A |
INTRINSIC |
|
Pfam:Integrin_alpha
|
1165 |
1179 |
1.3e-7 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000106237
AA Change: Q241K
PolyPhen 2
Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
|
| SMART Domains |
Protein: ENSMUSP00000101844
Gene: ENSMUSG00000070369
AA Change: Q241K
| Domain | Start | End | E-Value | Type |
|---|
|
Int_alpha
|
40 |
90 |
1.35e1 |
SMART |
|
VWA
|
157 |
342 |
1.31e-44 |
SMART |
|
Blast:VWA
|
371 |
402 |
9e-10 |
BLAST |
|
Int_alpha
|
409 |
458 |
3.67e-3 |
SMART |
|
Int_alpha
|
462 |
519 |
1.03e-6 |
SMART |
|
Int_alpha
|
525 |
581 |
1.73e-13 |
SMART |
|
Int_alpha
|
588 |
642 |
1.69e-2 |
SMART |
|
transmembrane domain
|
1108 |
1130 |
N/A |
INTRINSIC |
|
Pfam:Integrin_alpha
|
1131 |
1145 |
4.3e-7 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000177111
AA Change: Q239K
PolyPhen 2
Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
|
| SMART Domains |
Protein: ENSMUSP00000135572
Gene: ENSMUSG00000070369
AA Change: Q239K
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
24 |
N/A |
INTRINSIC |
|
Int_alpha
|
38 |
88 |
1.35e1 |
SMART |
|
VWA
|
155 |
340 |
1.31e-44 |
SMART |
|
Blast:VWA
|
369 |
400 |
9e-10 |
BLAST |
|
Int_alpha
|
407 |
456 |
3.67e-3 |
SMART |
|
Int_alpha
|
460 |
517 |
1.03e-6 |
SMART |
|
Int_alpha
|
523 |
579 |
1.73e-13 |
SMART |
|
Int_alpha
|
586 |
640 |
1.69e-2 |
SMART |
|
transmembrane domain
|
1106 |
1128 |
N/A |
INTRINSIC |
|
Pfam:Integrin_alpha
|
1129 |
1143 |
5.4e-7 |
PFAM |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.2%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene belongs to the beta-2 integrin family of membrane glycoproteins, which are are composed of non-covalently linked alpha and beta subunits to form a heterodimer. It encodes the alpha subunit of the cell surface heterodimers and is involved in the activation and adhesion functions of leukocytes. The gene is located about 11kb downstream of the integrin subunit alpha X gene, another member of the integrin family. It is expressed in the tissue and circulating myeloid leukocytes. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2015]
PHENOTYPE: Homozygous null mice exhibit a reduced staphylococcal enterotoxin-induced T cell response. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 60 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam20 |
C |
T |
8: 41,250,107 (GRCm39) |
T739I |
probably benign |
Het |
| Adam23 |
G |
T |
1: 63,624,586 (GRCm39) |
V805F |
possibly damaging |
Het |
| Adamts17 |
A |
T |
7: 66,499,547 (GRCm39) |
R31S |
probably damaging |
Het |
| Ano4 |
T |
A |
10: 89,163,138 (GRCm39) |
Y27F |
possibly damaging |
Het |
| Bbs2 |
A |
G |
8: 94,796,625 (GRCm39) |
V675A |
probably damaging |
Het |
| Brca2 |
A |
G |
5: 150,481,975 (GRCm39) |
E2839G |
probably damaging |
Het |
| Capn5 |
C |
T |
7: 97,773,085 (GRCm39) |
V640I |
probably benign |
Het |
| Casp4 |
C |
T |
9: 5,321,318 (GRCm39) |
T23M |
probably damaging |
Het |
| Cerk |
C |
T |
15: 86,028,920 (GRCm39) |
E379K |
possibly damaging |
Het |
| Comp |
G |
A |
8: 70,826,503 (GRCm39) |
G26D |
probably damaging |
Het |
| Cpxm1 |
G |
A |
2: 130,236,982 (GRCm39) |
A220V |
possibly damaging |
Het |
| Cyp2c69 |
G |
T |
19: 39,831,434 (GRCm39) |
P460T |
possibly damaging |
Het |
| Ddx23 |
T |
C |
15: 98,546,504 (GRCm39) |
D555G |
probably damaging |
Het |
| E2f6 |
T |
A |
12: 16,869,058 (GRCm39) |
I127K |
probably damaging |
Het |
| Efr3a |
T |
A |
15: 65,733,589 (GRCm39) |
D716E |
probably benign |
Het |
| Esp16 |
T |
G |
17: 39,850,868 (GRCm39) |
S82R |
possibly damaging |
Het |
| Fasn |
A |
C |
11: 120,700,061 (GRCm39) |
S2199A |
probably benign |
Het |
| Fscb |
A |
G |
12: 64,519,337 (GRCm39) |
S710P |
unknown |
Het |
| Gas7 |
A |
G |
11: 67,556,217 (GRCm39) |
I185M |
probably damaging |
Het |
| Glg1 |
A |
T |
8: 111,887,367 (GRCm39) |
L1047I |
possibly damaging |
Het |
| Golga5 |
A |
G |
12: 102,450,681 (GRCm39) |
N445D |
probably benign |
Het |
| Grin2c |
A |
T |
11: 115,147,063 (GRCm39) |
H377Q |
probably benign |
Het |
| Hmgcs1 |
T |
C |
13: 120,161,499 (GRCm39) |
I97T |
possibly damaging |
Het |
| Ifi211 |
T |
C |
1: 173,733,769 (GRCm39) |
T131A |
possibly damaging |
Het |
| Ifngr1 |
A |
G |
10: 19,484,931 (GRCm39) |
K310R |
probably damaging |
Het |
| Il18rap |
T |
C |
1: 40,587,803 (GRCm39) |
V467A |
probably damaging |
Het |
| Jrkl |
T |
C |
9: 13,245,506 (GRCm39) |
I52V |
possibly damaging |
Het |
| Kdm6b |
A |
T |
11: 69,290,778 (GRCm39) |
D1630E |
unknown |
Het |
| Krt75 |
C |
A |
15: 101,473,318 (GRCm39) |
*552L |
probably null |
Het |
| Mbd2 |
A |
G |
18: 70,701,948 (GRCm39) |
D154G |
probably damaging |
Het |
| Mutyh |
A |
T |
4: 116,674,153 (GRCm39) |
N235Y |
probably benign |
Het |
| Myo5b |
A |
G |
18: 74,864,825 (GRCm39) |
T1348A |
probably benign |
Het |
| Ndufs7 |
T |
C |
10: 80,089,619 (GRCm39) |
|
probably null |
Het |
| Nup205 |
T |
G |
6: 35,171,511 (GRCm39) |
M458R |
probably damaging |
Het |
| Ogfr |
GGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCCAAAGCCAGGTGG |
GGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCCAAAGCCAGGTGG |
2: 180,237,059 (GRCm39) |
|
probably benign |
Het |
| Or1e32 |
A |
C |
11: 73,705,926 (GRCm39) |
|
probably benign |
Het |
| Or1j4 |
G |
T |
2: 36,740,285 (GRCm39) |
V76F |
probably damaging |
Het |
| Or2at1 |
A |
T |
7: 99,416,803 (GRCm39) |
T145S |
probably benign |
Het |
| Or5b119 |
G |
A |
19: 13,457,019 (GRCm39) |
P181L |
probably damaging |
Het |
| Or6b2 |
T |
A |
1: 92,407,570 (GRCm39) |
M258L |
probably benign |
Het |
| Or8b101 |
A |
G |
9: 38,020,264 (GRCm39) |
N89S |
possibly damaging |
Het |
| Or8k25 |
T |
A |
2: 86,243,560 (GRCm39) |
T279S |
probably damaging |
Het |
| Plcl2 |
T |
G |
17: 50,913,831 (GRCm39) |
I280S |
probably benign |
Het |
| Ppargc1a |
A |
T |
5: 51,630,264 (GRCm39) |
Y618N |
unknown |
Het |
| Rab43 |
A |
T |
6: 87,788,348 (GRCm39) |
I60N |
probably damaging |
Het |
| Rnf126 |
A |
T |
10: 79,596,726 (GRCm39) |
C231S |
probably damaging |
Het |
| Rnf220 |
T |
A |
4: 117,164,787 (GRCm39) |
E238D |
probably damaging |
Het |
| Scn9a |
A |
T |
2: 66,335,193 (GRCm39) |
D1265E |
probably damaging |
Het |
| Sntb2 |
T |
A |
8: 107,728,269 (GRCm39) |
S406T |
probably damaging |
Het |
| Sos1 |
T |
C |
17: 80,714,267 (GRCm39) |
I1068V |
probably benign |
Het |
| Spart |
A |
G |
3: 55,035,697 (GRCm39) |
K519E |
probably damaging |
Het |
| Tlx3 |
A |
T |
11: 33,153,058 (GRCm39) |
F134L |
probably damaging |
Het |
| Trbj1-2 |
A |
T |
6: 41,510,964 (GRCm39) |
T10S |
|
Het |
| Txk |
A |
C |
5: 72,892,536 (GRCm39) |
L33R |
probably damaging |
Het |
| Ulk2 |
A |
G |
11: 61,682,258 (GRCm39) |
|
probably null |
Het |
| Usp20 |
T |
C |
2: 30,900,556 (GRCm39) |
S357P |
probably benign |
Het |
| Wac |
T |
A |
18: 7,921,560 (GRCm39) |
N565K |
possibly damaging |
Het |
| Zfp1007 |
A |
T |
5: 109,823,622 (GRCm39) |
C609* |
probably null |
Het |
| Zfp709 |
G |
T |
8: 72,644,684 (GRCm39) |
K704N |
probably damaging |
Het |
| Zfp788 |
C |
T |
7: 41,299,049 (GRCm39) |
Q562* |
probably null |
Het |
|
| Other mutations in Itgad |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00777:Itgad
|
APN |
7 |
127,803,022 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02036:Itgad
|
APN |
7 |
127,788,993 (GRCm39) |
missense |
possibly damaging |
0.49 |
|
IGL02589:Itgad
|
APN |
7 |
127,780,883 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02648:Itgad
|
APN |
7 |
127,782,546 (GRCm39) |
intron |
probably benign |
|
|
IGL02735:Itgad
|
APN |
7 |
127,792,888 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03088:Itgad
|
APN |
7 |
127,802,204 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL03110:Itgad
|
APN |
7 |
127,785,157 (GRCm39) |
missense |
probably damaging |
1.00 |
|
BB007:Itgad
|
UTSW |
7 |
127,782,280 (GRCm39) |
missense |
probably benign |
0.01 |
|
R0060:Itgad
|
UTSW |
7 |
127,802,158 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0060:Itgad
|
UTSW |
7 |
127,802,158 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0184:Itgad
|
UTSW |
7 |
127,788,403 (GRCm39) |
missense |
probably benign |
0.02 |
|
R0211:Itgad
|
UTSW |
7 |
127,803,813 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0211:Itgad
|
UTSW |
7 |
127,803,813 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0282:Itgad
|
UTSW |
7 |
127,789,150 (GRCm39) |
splice site |
probably benign |
|
|
R0326:Itgad
|
UTSW |
7 |
127,797,550 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0646:Itgad
|
UTSW |
7 |
127,773,176 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R0947:Itgad
|
UTSW |
7 |
127,774,865 (GRCm39) |
missense |
probably benign |
0.08 |
|
R1439:Itgad
|
UTSW |
7 |
127,782,178 (GRCm39) |
missense |
probably benign |
0.44 |
|
R1454:Itgad
|
UTSW |
7 |
127,791,309 (GRCm39) |
missense |
probably benign |
0.02 |
|
R1503:Itgad
|
UTSW |
7 |
127,797,293 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1531:Itgad
|
UTSW |
7 |
127,777,542 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1572:Itgad
|
UTSW |
7 |
127,802,406 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1602:Itgad
|
UTSW |
7 |
127,790,111 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1732:Itgad
|
UTSW |
7 |
127,804,279 (GRCm39) |
missense |
probably benign |
|
|
R2278:Itgad
|
UTSW |
7 |
127,804,342 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R2851:Itgad
|
UTSW |
7 |
127,803,732 (GRCm39) |
missense |
probably benign |
0.01 |
|
R3029:Itgad
|
UTSW |
7 |
127,777,543 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R3080:Itgad
|
UTSW |
7 |
127,784,959 (GRCm39) |
missense |
possibly damaging |
0.48 |
|
R3150:Itgad
|
UTSW |
7 |
127,790,153 (GRCm39) |
missense |
possibly damaging |
0.64 |
|
R3176:Itgad
|
UTSW |
7 |
127,790,153 (GRCm39) |
missense |
possibly damaging |
0.64 |
|
R3177:Itgad
|
UTSW |
7 |
127,790,153 (GRCm39) |
missense |
possibly damaging |
0.64 |
|
R3276:Itgad
|
UTSW |
7 |
127,790,153 (GRCm39) |
missense |
possibly damaging |
0.64 |
|
R3277:Itgad
|
UTSW |
7 |
127,790,153 (GRCm39) |
missense |
possibly damaging |
0.64 |
|
R3833:Itgad
|
UTSW |
7 |
127,785,405 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4541:Itgad
|
UTSW |
7 |
127,797,287 (GRCm39) |
missense |
probably benign |
0.13 |
|
R4649:Itgad
|
UTSW |
7 |
127,788,703 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4753:Itgad
|
UTSW |
7 |
127,822,875 (GRCm39) |
makesense |
probably null |
|
|
R4852:Itgad
|
UTSW |
7 |
127,797,702 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4931:Itgad
|
UTSW |
7 |
127,803,797 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4970:Itgad
|
UTSW |
7 |
127,789,015 (GRCm39) |
missense |
possibly damaging |
0.70 |
|
R5116:Itgad
|
UTSW |
7 |
127,803,065 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5183:Itgad
|
UTSW |
7 |
127,797,395 (GRCm39) |
critical splice donor site |
probably null |
|
|
R5233:Itgad
|
UTSW |
7 |
127,792,600 (GRCm39) |
splice site |
probably null |
|
|
R5334:Itgad
|
UTSW |
7 |
127,788,458 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5731:Itgad
|
UTSW |
7 |
127,797,726 (GRCm39) |
missense |
probably benign |
0.19 |
|
R5760:Itgad
|
UTSW |
7 |
127,802,537 (GRCm39) |
missense |
probably benign |
0.02 |
|
R5896:Itgad
|
UTSW |
7 |
127,773,188 (GRCm39) |
missense |
probably benign |
0.34 |
|
R5955:Itgad
|
UTSW |
7 |
127,788,653 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6247:Itgad
|
UTSW |
7 |
127,784,959 (GRCm39) |
missense |
possibly damaging |
0.48 |
|
R6659:Itgad
|
UTSW |
7 |
127,785,120 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7027:Itgad
|
UTSW |
7 |
127,782,161 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7104:Itgad
|
UTSW |
7 |
127,797,550 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7120:Itgad
|
UTSW |
7 |
127,773,146 (GRCm39) |
start codon destroyed |
probably null |
0.02 |
|
R7272:Itgad
|
UTSW |
7 |
127,804,245 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7303:Itgad
|
UTSW |
7 |
127,789,351 (GRCm39) |
missense |
probably benign |
|
|
R7324:Itgad
|
UTSW |
7 |
127,788,979 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7565:Itgad
|
UTSW |
7 |
127,782,187 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7566:Itgad
|
UTSW |
7 |
127,791,279 (GRCm39) |
missense |
probably benign |
0.40 |
|
R7930:Itgad
|
UTSW |
7 |
127,782,280 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8550:Itgad
|
UTSW |
7 |
127,803,064 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R8816:Itgad
|
UTSW |
7 |
127,797,542 (GRCm39) |
nonsense |
probably null |
|
|
R8849:Itgad
|
UTSW |
7 |
127,789,157 (GRCm39) |
splice site |
probably benign |
|
|
R8952:Itgad
|
UTSW |
7 |
127,789,324 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9345:Itgad
|
UTSW |
7 |
127,788,479 (GRCm39) |
missense |
probably benign |
0.02 |
|
R9354:Itgad
|
UTSW |
7 |
127,785,146 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9526:Itgad
|
UTSW |
7 |
127,777,552 (GRCm39) |
missense |
probably benign |
0.09 |
|
R9614:Itgad
|
UTSW |
7 |
127,803,022 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9623:Itgad
|
UTSW |
7 |
127,803,723 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9773:Itgad
|
UTSW |
7 |
127,789,222 (GRCm39) |
missense |
probably damaging |
0.97 |
|
RF019:Itgad
|
UTSW |
7 |
127,791,380 (GRCm39) |
missense |
probably benign |
0.08 |
|
Z1176:Itgad
|
UTSW |
7 |
127,789,259 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1177:Itgad
|
UTSW |
7 |
127,788,673 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- AGTCCTGAACCTGAGGCTTC -3'
(R):5'- TCTCTAGAACCAGGCAAGGG -3'
Sequencing Primer
(F):5'- TGAACCTGAGGCTTCCCTGG -3'
(R):5'- TAAATGCCAAGGAGTCTGGTCTCAC -3'
|
| Posted On |
2020-08-01 |
Incidental Mutation