Mutagenetix > Incidental Mutation

Incidental Mutation 'R3027:Itgax'

265853

Institutional Source

Beutler Lab

Gene Symbol

Itgax

Ensembl Gene

ENSMUSG00000030789

Gene Name

integrin alpha X

Synonyms

CD11C (p150) alpha polypeptide, CR4, Cd11c

MMRRC Submission

040543-MU

Accession Numbers

Essential gene?

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

Stock #

R3027 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

127728719-127749829 bp(+) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

C to A at 127747744 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Stop codon at position 1053 (Y1053*)

Ref Sequence

ENSEMBL: ENSMUSP00000033053 (fasta)

Gene Model

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

AlphaFold

Q9QXH4

Predicted Effect

probably null
Transcript: ENSMUST00000033053
AA Change: Y1053*

SMART Domains

Protein: ENSMUSP00000033053
Gene: ENSMUSG00000030789
AA Change: Y1053*

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

noncoding transcript
Transcript: ENSMUST00000206396

Meta Mutation Damage Score

0.9755

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.0%

Validation Efficiency

100% (33/33)

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: 31 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Arap2	T	C	5: 62,827,240 (GRCm39)	T993A	probably damaging	Het
Arhgap18	G	A	10: 26,722,092 (GRCm39)	G21D	probably benign	Het
Cluap1	T	A	16: 3,729,396 (GRCm39)	C84*	probably null	Het
Dnmt3a	T	A	12: 3,899,626 (GRCm39)		probably null	Het
Etaa1	T	C	11: 17,897,886 (GRCm39)	D146G	probably damaging	Het
Fam227a	T	C	15: 79,532,934 (GRCm39)		probably null	Het
Htt	T	A	5: 34,977,439 (GRCm39)	I775N	possibly damaging	Het
Kif21a	T	A	15: 90,856,845 (GRCm39)	N583Y	probably damaging	Het
Lrp1b	T	A	2: 40,760,283 (GRCm39)	E2995V	probably benign	Het
Or1ad8	G	A	11: 50,897,879 (GRCm39)	V27M	possibly damaging	Het
Or5h22	C	T	16: 58,895,330 (GRCm39)	V38I	probably benign	Het
Or6aa1	T	C	7: 86,043,761 (GRCm39)	N315S	probably benign	Het
Or8k39	C	T	2: 86,563,930 (GRCm39)	V9M	possibly damaging	Het
Otos	A	T	1: 92,572,076 (GRCm39)	H83Q	probably damaging	Het
Pramel7	A	G	2: 87,321,747 (GRCm39)	M96T	probably benign	Het
Ptprz1	T	A	6: 23,016,196 (GRCm39)	S1680T	possibly damaging	Het
Rad50	A	G	11: 53,586,208 (GRCm39)	S263P	probably benign	Het
Resf1	T	C	6: 149,230,533 (GRCm39)	L1193P	probably benign	Het
Retreg2	A	G	1: 75,123,088 (GRCm39)	S339G	probably damaging	Het
Schip1	G	A	3: 68,401,943 (GRCm39)	A7T	probably damaging	Het
Shkbp1	A	C	7: 27,042,818 (GRCm39)	S540A	probably benign	Het
Slc15a4	A	G	5: 127,681,600 (GRCm39)		probably null	Het
Socs1	T	C	16: 10,602,578 (GRCm39)	D53G	possibly damaging	Het
Spag9	G	T	11: 93,977,203 (GRCm39)	R103L	probably null	Het
Spc24	AGAGGTAGTCACTGA	AGA	9: 21,667,511 (GRCm39)		probably null	Het
Spo11	T	C	2: 172,827,736 (GRCm39)	Y146H	probably damaging	Het
Tmem25	T	C	9: 44,709,511 (GRCm39)		probably null	Het
Ttyh1	A	G	7: 4,122,721 (GRCm39)	D23G	probably benign	Het
Vrk3	C	T	7: 44,424,866 (GRCm39)	T427M	probably benign	Het
Zfp513	A	G	5: 31,356,673 (GRCm39)	S540P	possibly damaging	Het
Zfp808	A	T	13: 62,319,404 (GRCm39)	H211L	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
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

Predicted Primers

PCR Primer
(F):5'- TCTGCACCAGCTCTATCGAG -3'
(R):5'- AATGTGATTTCAGCCTCACTCAG -3'

Sequencing Primer
(F):5'- AGCTCTATCGAGGCCTGCATG -3'
(R):5'- GGAGCAACACCTTTTTCTGCAATG -3'

Posted On

2015-02-05