Mutagenetix > Incidental Mutation

Incidental Mutation 'R4923:Itgax'

378783

Institutional Source

Beutler Lab

Gene Symbol

Itgax

Ensembl Gene

ENSMUSG00000030789

Gene Name

integrin alpha X

Synonyms

CD11C (p150) alpha polypeptide, CR4, Cd11c

MMRRC Submission

042525-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.071) question?

Stock #

R4923 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

127728719-127749829 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 127747700 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Phenylalanine at position 1039 (L1039F)

Ref Sequence

ENSEMBL: ENSMUSP00000033053 (fasta)

Gene Model

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

AlphaFold

Q9QXH4

Predicted Effect

probably benign
Transcript: ENSMUST00000033053
AA Change: L1039F

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000033053
Gene: ENSMUSG00000030789
AA Change: L1039F

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

0.0898

Coding Region Coverage

1x: 99.0%
3x: 98.2%
10x: 96.0%
20x: 91.3%

Validation Efficiency

98% (107/109)

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: 95 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aim2	A	G	1: 173,287,372 (GRCm39)	D124G	probably benign	Het
Akr1c6	T	C	13: 4,504,494 (GRCm39)	M293T	probably damaging	Het
Albfm1	A	G	5: 90,709,158 (GRCm39)	T23A	probably benign	Het
Ankhd1	A	G	18: 36,722,505 (GRCm39)	T343A	probably damaging	Het
Ano2	T	C	6: 125,880,018 (GRCm39)		probably benign	Het
Arfgap2	G	A	2: 91,104,004 (GRCm39)	G353R	probably damaging	Het
Armc3	A	G	2: 19,297,791 (GRCm39)		probably null	Het
Atp11b	T	C	3: 35,889,528 (GRCm39)		probably null	Het
Brd4	A	G	17: 32,418,214 (GRCm39)	M13T	probably benign	Het
Btd	T	A	14: 31,384,044 (GRCm39)	M10K	possibly damaging	Het
C1s2	T	C	6: 124,602,649 (GRCm39)	K515E	probably benign	Het
Cars1	A	T	7: 143,123,587 (GRCm39)	Y455N	probably damaging	Het
Ccdc110	A	G	8: 46,396,460 (GRCm39)	S784G	probably benign	Het
Chic2	A	G	5: 75,171,872 (GRCm39)		probably benign	Het
Chka	A	T	19: 3,942,105 (GRCm39)		probably null	Het
Chrne	A	G	11: 70,506,101 (GRCm39)	I420T	possibly damaging	Het
Clstn1	T	C	4: 149,729,486 (GRCm39)	V747A	probably benign	Het
Cobll1	A	G	2: 64,929,602 (GRCm39)	S575P	possibly damaging	Het
Col6a6	A	T	9: 105,666,147 (GRCm39)	L3Q	probably damaging	Het
Comtd1	A	T	14: 21,898,813 (GRCm39)		probably benign	Het
Cpsf2	T	C	12: 101,948,243 (GRCm39)	V13A	probably benign	Het
Creb3l4	T	A	3: 90,149,521 (GRCm39)	I115L	probably benign	Het
Cyp2j12	C	T	4: 95,990,346 (GRCm39)	A407T	possibly damaging	Het
Ddr2	A	G	1: 169,825,498 (GRCm39)		probably null	Het
Dennd4c	T	C	4: 86,725,775 (GRCm39)	L743P	probably damaging	Het
Egfl8	T	C	17: 34,833,171 (GRCm39)	T192A	probably benign	Het
Elapor1	C	T	3: 108,379,284 (GRCm39)		probably null	Het
Elf3	A	G	1: 135,184,473 (GRCm39)		probably benign	Het
Entrep2	A	G	7: 64,417,439 (GRCm39)	S322P	probably benign	Het
Etv3	T	G	3: 87,443,223 (GRCm39)	L269R	possibly damaging	Het
Fah	C	A	7: 84,251,260 (GRCm39)		probably benign	Het
Fbll1	C	A	11: 35,688,407 (GRCm39)	L285F	probably benign	Het
Fcrla	A	T	1: 170,748,682 (GRCm39)	F154I	probably damaging	Het
Fnip2	T	A	3: 79,396,701 (GRCm39)		probably null	Het
Focad	T	C	4: 88,115,083 (GRCm39)		probably benign	Het
Gabrr1	T	A	4: 33,162,820 (GRCm39)	I462N	possibly damaging	Het
Gm57859	C	A	11: 113,579,805 (GRCm39)	T400K	probably benign	Het
Gnptab	A	G	10: 88,265,485 (GRCm39)	T366A	probably benign	Het
Hnrnpu	G	A	1: 178,159,017 (GRCm39)		probably benign	Het
Il17ra	T	A	6: 120,454,406 (GRCm39)	V299E	possibly damaging	Het
Impg1	G	A	9: 80,252,360 (GRCm39)	Q607*	probably null	Het
Impg1	T	A	9: 80,252,827 (GRCm39)	E374V	probably damaging	Het
Kcnk2	A	T	1: 189,072,133 (GRCm39)	V65D	probably damaging	Het
Kif20b	A	C	19: 34,918,611 (GRCm39)		probably null	Het
Krt9	TCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCC	TCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCC	11: 100,079,903 (GRCm39)		probably benign	Het
Lama5	T	G	2: 179,825,942 (GRCm39)	I2372L	probably benign	Het
Lilrb4a	A	G	10: 51,368,139 (GRCm39)	T85A	possibly damaging	Het
Mapk13	C	A	17: 28,997,197 (GRCm39)	H330N	probably benign	Het
Mars1	C	A	10: 127,132,549 (GRCm39)		probably benign	Het
Mdga1	C	A	17: 30,057,052 (GRCm39)	R818L	probably damaging	Het
Mdn1	T	A	4: 32,671,608 (GRCm39)	L476Q	possibly damaging	Het
Mup21	T	C	4: 62,066,202 (GRCm39)	E178G	probably benign	Het
Myg1	A	G	15: 102,240,288 (GRCm39)	N38S	probably benign	Het
Ncam1	A	T	9: 49,416,779 (GRCm39)	D837E	probably benign	Het
Ncam2	C	T	16: 81,386,679 (GRCm39)	P686L	possibly damaging	Het
Nck2	T	C	1: 43,500,231 (GRCm39)		probably benign	Het
Nfya	T	C	17: 48,707,563 (GRCm39)		probably benign	Het
Npat	A	G	9: 53,482,330 (GRCm39)	K1346R	probably damaging	Het
Odad2	C	G	18: 7,181,787 (GRCm39)	D846H	probably damaging	Het
Or12j3	G	T	7: 139,952,920 (GRCm39)	T201K	probably benign	Het
Or4a72	T	C	2: 89,406,023 (GRCm39)	T16A	probably damaging	Het
Or6c212	A	G	10: 129,558,681 (GRCm39)	V244A	probably benign	Het
Pde7b	G	T	10: 20,288,873 (GRCm39)	Q325K	probably damaging	Het
Pla2r1	A	T	2: 60,253,056 (GRCm39)	M1345K	probably benign	Het
Prkcz	T	C	4: 155,441,946 (GRCm39)	D62G	probably damaging	Het
Pros1	T	A	16: 62,723,935 (GRCm39)	C228S	possibly damaging	Het
Ptprc	A	G	1: 138,006,236 (GRCm39)	M782T	possibly damaging	Het
Rcn1	T	C	2: 105,219,518 (GRCm39)	D225G	probably benign	Het
Recql4	G	A	15: 76,594,381 (GRCm39)	R46C	probably damaging	Het
Rnf220	C	T	4: 117,346,797 (GRCm39)	R205Q	possibly damaging	Het
Samd13	T	C	3: 146,368,502 (GRCm39)	D11G	probably benign	Het
Scp2d1	T	A	2: 144,666,030 (GRCm39)	I123K	probably benign	Het
Skap1	A	T	11: 96,644,870 (GRCm39)	Y311F	probably damaging	Het
Slc2a10	T	C	2: 165,356,676 (GRCm39)	I112T	possibly damaging	Het
Slc34a1	G	A	13: 24,003,078 (GRCm39)	V243M	probably benign	Het
Slc39a2	G	A	14: 52,132,711 (GRCm39)	G218D	probably damaging	Het
Sos1	T	C	17: 80,742,381 (GRCm39)	N382S	probably benign	Het
Spam1	C	T	6: 24,796,655 (GRCm39)	T202I	probably damaging	Het
Tas2r138	T	A	6: 40,589,820 (GRCm39)	Q142L	possibly damaging	Het
Tec	T	A	5: 72,939,365 (GRCm39)	R217*	probably null	Het
Tmeff2	T	A	1: 50,969,804 (GRCm39)	V90D	probably benign	Het
Tmem119	T	C	5: 113,933,405 (GRCm39)	Y132C	probably damaging	Het
Topbp1	A	G	9: 103,190,035 (GRCm39)	I204V	probably benign	Het
Trappc14	A	T	5: 138,260,641 (GRCm39)		probably benign	Het
Ttn	A	T	2: 76,601,232 (GRCm39)	I17001N	probably damaging	Het
Vit	T	A	17: 78,894,270 (GRCm39)	M224K	probably benign	Het
Vmn1r179	T	G	7: 23,628,491 (GRCm39)	H227Q	possibly damaging	Het
Vmn1r84	T	C	7: 12,095,743 (GRCm39)	N305D	probably benign	Het
Vmn2r61	A	G	7: 41,916,520 (GRCm39)	N378D	probably damaging	Het
Vmn2r87	A	G	10: 130,314,435 (GRCm39)	Y384H	probably damaging	Het
Wiz	C	T	17: 32,580,570 (GRCm39)	A294T	probably benign	Het
Xdh	C	A	17: 74,231,931 (GRCm39)	V260L	possibly damaging	Het
Xirp2	A	G	2: 67,343,237 (GRCm39)	K1826R	probably benign	Het
Zfp445	A	C	9: 122,681,358 (GRCm39)	I861R	probably benign	Het
Zfp691	T	C	4: 119,027,999 (GRCm39)	T78A	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
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'- CGTGCTGGTGAGGAAAACAC -3'
(R):5'- GAGCTCAGGGTTCAAAGACTG -3'

Sequencing Primer
(F):5'- GAGGACCTGAAAACTCACTTGCTG -3'
(R):5'- TCAGGGTTCAAAGACTGCCCTG -3'

Posted On

2016-04-15