Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01549:Itgax'

90561

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Itgax

Ensembl Gene

ENSMUSG00000030789

Gene Name

integrin alpha X

Synonyms

CD11C (p150) alpha polypeptide, CR4, Cd11c

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.079) question?

Stock #

IGL01549

Quality Score

Status

Chromosome

Chromosomal Location

127728719-127749829 bp(+) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

C to A at 127730378 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000145587 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000033053] [ENSMUST00000098015] [ENSMUST00000205460]

AlphaFold

Q9QXH4

Predicted Effect

probably null
Transcript: ENSMUST00000033053

SMART Domains

Protein: ENSMUSP00000033053
Gene: ENSMUSG00000030789

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 null
Transcript: ENSMUST00000205460

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000205866

Coding Region Coverage

Validation Efficiency

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: 27 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930503L19Rik	C	T	18: 70,601,106 (GRCm39)	V259I	possibly damaging	Het
Abhd4	C	T	14: 54,504,589 (GRCm39)	T273I	probably damaging	Het
Adamtsl3	T	C	7: 82,261,656 (GRCm39)	S1691P	probably damaging	Het
Anapc1	A	G	2: 128,495,090 (GRCm39)	S901P	probably benign	Het
Ank3	C	T	10: 69,768,250 (GRCm39)	S56F	probably damaging	Het
Ccdc74a	A	G	16: 17,468,406 (GRCm39)	S343G	probably benign	Het
Clec7a	A	T	6: 129,449,640 (GRCm39)	Y3*	probably null	Het
Il6	A	G	5: 30,224,469 (GRCm39)	T170A	probably benign	Het
Lrrc17	A	T	5: 21,775,288 (GRCm39)	R283S	probably benign	Het
Muc1	C	T	3: 89,139,117 (GRCm39)	P533S	probably damaging	Het
Or10j5	T	C	1: 172,784,541 (GRCm39)	Y60H	probably damaging	Het
Or13n4	T	C	7: 106,423,236 (GRCm39)	I166V	probably benign	Het
Or4c121	C	T	2: 89,024,133 (GRCm39)	V82I	probably benign	Het
Or4d10c	T	A	19: 12,065,329 (GRCm39)	I276F	probably benign	Het
Or8k37	A	C	2: 86,469,705 (GRCm39)	S116A	probably benign	Het
Or8k37	T	C	2: 86,469,876 (GRCm39)	M59V	possibly damaging	Het
Pcnt	A	C	10: 76,203,320 (GRCm39)		probably null	Het
Pde4b	A	T	4: 102,462,265 (GRCm39)	D647V	probably damaging	Het
Phldb2	T	C	16: 45,594,681 (GRCm39)	M875V	probably benign	Het
Prkar2b	T	C	12: 32,111,071 (GRCm39)	E4G	possibly damaging	Het
Rab2a	C	A	4: 8,582,393 (GRCm39)	S125Y	probably benign	Het
Samm50	A	G	15: 84,086,982 (GRCm39)	I264V	probably benign	Het
Sgsh	C	T	11: 119,241,755 (GRCm39)	A90T	probably damaging	Het
Tap2	A	G	17: 34,433,303 (GRCm39)	T489A	probably benign	Het
Wdr38	T	G	2: 38,890,730 (GRCm39)	S201R	probably damaging	Het
Zfhx4	A	G	3: 5,464,522 (GRCm39)	D1560G	probably damaging	Het
Zfp462	A	G	4: 55,013,181 (GRCm39)	T568A	probably damaging	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
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
R6004:Itgax	UTSW	7	127,730,624 (GRCm39)	missense	probably damaging	0.96
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

Posted On

2013-12-09