Incidental Mutation 'R6004:Itgax'
| ID |
478511 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Itgax
|
| Ensembl Gene |
ENSMUSG00000030789 |
| Gene Name |
integrin alpha X |
| Synonyms |
CD11C (p150) alpha polypeptide, CR4, Cd11c |
| MMRRC Submission |
044182-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.079)
|
| Stock # |
R6004 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
127728719-127749829 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 127730624 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Leucine
at position 114
(H114L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000033053
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000033053]
[ENSMUST00000098015]
[ENSMUST00000205460]
|
| AlphaFold |
Q9QXH4 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000033053
AA Change: H114L
PolyPhen 2
Score 0.964 (Sensitivity: 0.78; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000033053
Gene: ENSMUSG00000030789
AA Change: H114L
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
19 |
N/A |
INTRINSIC |
|
Int_alpha
|
33 |
83 |
1.28e1 |
SMART |
|
VWA
|
150 |
331 |
8.36e-43 |
SMART |
|
Int_alpha
|
402 |
451 |
3.67e-3 |
SMART |
|
Int_alpha
|
455 |
512 |
1.29e-7 |
SMART |
|
Int_alpha
|
518 |
574 |
5.72e-14 |
SMART |
|
Int_alpha
|
581 |
635 |
1.55e-1 |
SMART |
|
transmembrane domain
|
1115 |
1137 |
N/A |
INTRINSIC |
|
Pfam:Integrin_alpha
|
1138 |
1152 |
6.2e-7 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000098015
|
| SMART Domains |
Protein: ENSMUSP00000095625
Gene: ENSMUSG00000108596
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
16 |
N/A |
INTRINSIC |
|
Int_alpha
|
30 |
80 |
8.11e0 |
SMART |
|
VWA
|
148 |
333 |
2.63e-49 |
SMART |
|
Int_alpha
|
400 |
449 |
1.07e1 |
SMART |
|
Int_alpha
|
453 |
510 |
1.48e-7 |
SMART |
|
Int_alpha
|
516 |
572 |
4.9e-13 |
SMART |
|
Int_alpha
|
579 |
633 |
3.67e-3 |
SMART |
|
low complexity region
|
849 |
855 |
N/A |
INTRINSIC |
|
coiled coil region
|
1143 |
1170 |
N/A |
INTRINSIC |
|
low complexity region
|
1178 |
1200 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000134694
|
| SMART Domains |
Protein: ENSMUSP00000117120
Gene: ENSMUSG00000108596
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Ribosomal_L29
|
39 |
82 |
1.1e-9 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000205408
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000205460
AA Change: H114L
PolyPhen 2
Score 0.395 (Sensitivity: 0.90; Specificity: 0.89)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000205866
|
| Meta Mutation Damage Score |
0.2387 |
| Coding Region Coverage |
- 1x: 99.8%
- 3x: 99.4%
- 10x: 96.8%
- 20x: 89.1%
|
| Validation Efficiency |
98% (55/56) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes the integrin alpha X chain protein. Integrins are heterodimeric integral membrane proteins composed of an alpha chain and a beta chain. This protein combines with the beta 2 chain (ITGB2) to form a leukocyte-specific integrin referred to as inactivated-C3b (iC3b) receptor 4 (CR4). The alpha X beta 2 complex seems to overlap the properties of the alpha M beta 2 integrin in the adherence of neutrophils and monocytes to stimulated endothelium cells, and in the phagocytosis of complement coated particles. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2013]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit increased susceptibility to bacterial infection, decreased susceptibility to experimental autoimmune encephalomyelitis (EAE), increased T cell proliferation, and an abnormal pattern of cytokine production during EAE. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 56 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acp6 |
C |
T |
3: 97,082,997 (GRCm39) |
A336V |
probably benign |
Het |
| Adam5 |
T |
A |
8: 25,271,685 (GRCm39) |
Y574F |
probably benign |
Het |
| Arl6 |
A |
T |
16: 59,444,257 (GRCm39) |
W80R |
probably damaging |
Het |
| Bmal1 |
A |
T |
7: 112,879,934 (GRCm39) |
D22V |
probably damaging |
Het |
| Cars2 |
A |
G |
8: 11,597,743 (GRCm39) |
I111T |
probably damaging |
Het |
| Chrd |
T |
C |
16: 20,553,987 (GRCm39) |
L317S |
possibly damaging |
Het |
| Cyp4a12b |
A |
G |
4: 115,290,664 (GRCm39) |
D262G |
probably benign |
Het |
| Dcaf6 |
A |
G |
1: 165,216,254 (GRCm39) |
S450P |
probably benign |
Het |
| Dnah3 |
T |
C |
7: 119,685,520 (GRCm39) |
D164G |
probably benign |
Het |
| Gpx6 |
A |
C |
13: 21,503,239 (GRCm39) |
T218P |
probably benign |
Het |
| Htr1f |
T |
C |
16: 64,746,239 (GRCm39) |
N351S |
probably damaging |
Het |
| Idua |
A |
G |
5: 108,828,510 (GRCm39) |
E241G |
probably benign |
Het |
| Ighv14-2 |
T |
A |
12: 113,958,255 (GRCm39) |
Q62L |
probably damaging |
Het |
| Ighv1-65 |
C |
T |
12: 115,496,056 (GRCm39) |
|
noncoding transcript |
Het |
| Inpp4a |
T |
C |
1: 37,411,451 (GRCm39) |
S372P |
probably damaging |
Het |
| Lama2 |
A |
T |
10: 27,111,781 (GRCm39) |
F746L |
probably benign |
Het |
| Lrrc37a |
C |
T |
11: 103,393,362 (GRCm39) |
V688M |
possibly damaging |
Het |
| Ltbp2 |
A |
G |
12: 84,922,923 (GRCm39) |
V28A |
probably benign |
Het |
| Mill2 |
A |
T |
7: 18,590,463 (GRCm39) |
D166V |
probably benign |
Het |
| Mroh2a |
G |
A |
1: 88,176,377 (GRCm39) |
C982Y |
probably damaging |
Het |
| Msh3 |
T |
A |
13: 92,478,922 (GRCm39) |
|
probably null |
Het |
| Myh15 |
A |
T |
16: 48,980,062 (GRCm39) |
M1395L |
probably benign |
Het |
| Npepps |
T |
C |
11: 97,113,950 (GRCm39) |
E642G |
probably benign |
Het |
| Nrg4 |
T |
C |
9: 55,166,667 (GRCm39) |
T68A |
possibly damaging |
Het |
| Or10ag60 |
T |
A |
2: 87,438,253 (GRCm39) |
F174I |
probably damaging |
Het |
| Or4b1d |
T |
C |
2: 89,969,343 (GRCm39) |
N47D |
probably benign |
Het |
| Or4f60 |
G |
T |
2: 111,902,371 (GRCm39) |
L186I |
probably damaging |
Het |
| Or6c66b |
T |
A |
10: 129,376,759 (GRCm39) |
Y118N |
probably benign |
Het |
| Or8b41 |
A |
G |
9: 38,055,256 (GRCm39) |
K270R |
probably damaging |
Het |
| Or9g20 |
A |
T |
2: 85,629,726 (GRCm39) |
V296E |
probably damaging |
Het |
| Otogl |
T |
A |
10: 107,715,390 (GRCm39) |
I429F |
probably damaging |
Het |
| Pank4 |
G |
T |
4: 155,061,678 (GRCm39) |
G532C |
probably damaging |
Het |
| Plce1 |
A |
G |
19: 38,710,315 (GRCm39) |
T1150A |
probably damaging |
Het |
| Ppp2r2b |
T |
C |
18: 43,192,224 (GRCm39) |
|
probably null |
Het |
| Prkrip1 |
A |
G |
5: 136,226,636 (GRCm39) |
M68T |
probably damaging |
Het |
| Psme4 |
T |
A |
11: 30,806,896 (GRCm39) |
|
probably benign |
Het |
| Raet1d |
T |
A |
10: 22,247,293 (GRCm39) |
I123N |
probably damaging |
Het |
| Rp1 |
T |
G |
1: 4,267,808 (GRCm39) |
T825P |
unknown |
Het |
| Rttn |
T |
C |
18: 89,039,816 (GRCm39) |
I839T |
probably damaging |
Het |
| Sgo2b |
G |
A |
8: 64,379,707 (GRCm39) |
Q1042* |
probably null |
Het |
| Skint11 |
A |
G |
4: 114,088,925 (GRCm39) |
T240A |
probably benign |
Het |
| Speg |
A |
T |
1: 75,392,247 (GRCm39) |
K1382* |
probably null |
Het |
| Srsf7 |
A |
T |
17: 80,513,282 (GRCm39) |
D68E |
probably damaging |
Het |
| Stag3 |
A |
T |
5: 138,287,468 (GRCm39) |
D131V |
probably damaging |
Het |
| Strip2 |
T |
A |
6: 29,926,570 (GRCm39) |
C152S |
probably damaging |
Het |
| Timm44 |
G |
T |
8: 4,317,747 (GRCm39) |
D191E |
probably benign |
Het |
| Tlnrd1 |
A |
G |
7: 83,531,987 (GRCm39) |
V148A |
probably damaging |
Het |
| Trp63 |
T |
C |
16: 25,582,146 (GRCm39) |
|
probably null |
Het |
| Tusc3 |
G |
C |
8: 39,538,560 (GRCm39) |
G200R |
probably damaging |
Het |
| Vmn2r10 |
T |
G |
5: 109,146,944 (GRCm39) |
N448T |
probably benign |
Het |
| Vmn2r50 |
G |
A |
7: 9,783,986 (GRCm39) |
R163C |
probably benign |
Het |
| Vmn2r53 |
T |
C |
7: 12,316,328 (GRCm39) |
H497R |
probably benign |
Het |
| Vps39 |
A |
G |
2: 120,176,131 (GRCm39) |
V83A |
possibly damaging |
Het |
| Ylpm1 |
A |
T |
12: 85,075,858 (GRCm39) |
N861I |
possibly damaging |
Het |
| Zfp712 |
A |
G |
13: 67,189,769 (GRCm39) |
C253R |
probably damaging |
Het |
| Zfp930 |
A |
G |
8: 69,680,556 (GRCm39) |
T84A |
probably benign |
Het |
|
| Other mutations in Itgax |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00089:Itgax
|
APN |
7 |
127,734,498 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL00325:Itgax
|
APN |
7 |
127,747,481 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
IGL01155:Itgax
|
APN |
7 |
127,744,207 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL01461:Itgax
|
APN |
7 |
127,734,190 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01508:Itgax
|
APN |
7 |
127,743,990 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01549:Itgax
|
APN |
7 |
127,730,378 (GRCm39) |
splice site |
probably null |
|
|
IGL01864:Itgax
|
APN |
7 |
127,732,935 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02094:Itgax
|
APN |
7 |
127,730,645 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02364:Itgax
|
APN |
7 |
127,739,154 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
IGL02969:Itgax
|
APN |
7 |
127,748,295 (GRCm39) |
missense |
probably benign |
|
|
IGL03406:Itgax
|
APN |
7 |
127,748,370 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
Adendritic
|
UTSW |
7 |
127,747,744 (GRCm39) |
nonsense |
probably null |
|
|
PIT4651001:Itgax
|
UTSW |
7 |
127,748,282 (GRCm39) |
missense |
probably benign |
0.11 |
|
R0366:Itgax
|
UTSW |
7 |
127,748,261 (GRCm39) |
splice site |
probably benign |
|
|
R0763:Itgax
|
UTSW |
7 |
127,747,112 (GRCm39) |
splice site |
probably benign |
|
|
R1072:Itgax
|
UTSW |
7 |
127,749,316 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R1659:Itgax
|
UTSW |
7 |
127,730,063 (GRCm39) |
missense |
probably benign |
0.15 |
|
R2019:Itgax
|
UTSW |
7 |
127,747,698 (GRCm39) |
missense |
probably benign |
|
|
R2418:Itgax
|
UTSW |
7 |
127,741,505 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R3027:Itgax
|
UTSW |
7 |
127,747,744 (GRCm39) |
nonsense |
probably null |
|
|
R3846:Itgax
|
UTSW |
7 |
127,732,939 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3938:Itgax
|
UTSW |
7 |
127,735,445 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
R4021:Itgax
|
UTSW |
7 |
127,732,311 (GRCm39) |
critical splice donor site |
probably null |
|
|
R4027:Itgax
|
UTSW |
7 |
127,740,438 (GRCm39) |
missense |
possibly damaging |
0.75 |
|
R4163:Itgax
|
UTSW |
7 |
127,743,872 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4923:Itgax
|
UTSW |
7 |
127,747,700 (GRCm39) |
missense |
probably benign |
|
|
R5259:Itgax
|
UTSW |
7 |
127,747,450 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5333:Itgax
|
UTSW |
7 |
127,741,455 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5347:Itgax
|
UTSW |
7 |
127,740,474 (GRCm39) |
missense |
probably benign |
0.08 |
|
R5679:Itgax
|
UTSW |
7 |
127,734,162 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5725:Itgax
|
UTSW |
7 |
127,747,033 (GRCm39) |
missense |
possibly damaging |
0.63 |
|
R5733:Itgax
|
UTSW |
7 |
127,739,647 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5750:Itgax
|
UTSW |
7 |
127,743,878 (GRCm39) |
missense |
probably benign |
0.32 |
|
R5964:Itgax
|
UTSW |
7 |
127,739,619 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6168:Itgax
|
UTSW |
7 |
127,732,269 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6212:Itgax
|
UTSW |
7 |
127,747,025 (GRCm39) |
missense |
probably benign |
0.16 |
|
R6212:Itgax
|
UTSW |
7 |
127,729,504 (GRCm39) |
missense |
possibly damaging |
0.52 |
|
R6480:Itgax
|
UTSW |
7 |
127,747,771 (GRCm39) |
missense |
probably benign |
0.12 |
|
R6484:Itgax
|
UTSW |
7 |
127,732,890 (GRCm39) |
missense |
probably benign |
0.13 |
|
R6796:Itgax
|
UTSW |
7 |
127,734,236 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6844:Itgax
|
UTSW |
7 |
127,747,106 (GRCm39) |
splice site |
probably null |
|
|
R7287:Itgax
|
UTSW |
7 |
127,747,677 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7365:Itgax
|
UTSW |
7 |
127,734,481 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7421:Itgax
|
UTSW |
7 |
127,739,604 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7599:Itgax
|
UTSW |
7 |
127,747,262 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7710:Itgax
|
UTSW |
7 |
127,735,028 (GRCm39) |
missense |
probably benign |
0.04 |
|
R7964:Itgax
|
UTSW |
7 |
127,739,590 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R8220:Itgax
|
UTSW |
7 |
127,730,090 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8730:Itgax
|
UTSW |
7 |
127,739,066 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R8742:Itgax
|
UTSW |
7 |
127,743,795 (GRCm39) |
missense |
probably benign |
0.28 |
|
R8812:Itgax
|
UTSW |
7 |
127,732,979 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8871:Itgax
|
UTSW |
7 |
127,735,223 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9147:Itgax
|
UTSW |
7 |
127,747,913 (GRCm39) |
missense |
possibly damaging |
0.74 |
|
R9149:Itgax
|
UTSW |
7 |
127,730,641 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9310:Itgax
|
UTSW |
7 |
127,741,432 (GRCm39) |
nonsense |
probably null |
|
|
R9376:Itgax
|
UTSW |
7 |
127,747,935 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R9377:Itgax
|
UTSW |
7 |
127,732,849 (GRCm39) |
missense |
probably benign |
0.03 |
|
R9641:Itgax
|
UTSW |
7 |
127,741,152 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9650:Itgax
|
UTSW |
7 |
127,734,935 (GRCm39) |
missense |
probably benign |
0.24 |
|
R9709:Itgax
|
UTSW |
7 |
127,735,500 (GRCm39) |
missense |
probably damaging |
1.00 |
|
X0061:Itgax
|
UTSW |
7 |
127,728,779 (GRCm39) |
start gained |
probably benign |
|
|
Z1176:Itgax
|
UTSW |
7 |
127,744,044 (GRCm39) |
missense |
probably benign |
0.24 |
|
Z1177:Itgax
|
UTSW |
7 |
127,747,234 (GRCm39) |
missense |
probably benign |
0.04 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGAACATATCCCTGGGCCTG -3'
(R):5'- TCCCTTTTGGAAAAGAATCTGACCC -3'
Sequencing Primer
(F):5'- AACCCTTCCTGGCTGTTGGTG -3'
(R):5'- TGGAAAAGAATCTGACCCACCGAAG -3'
|
| Posted On |
2017-06-26 |
Incidental Mutation