Mutagenetix > Incidental Mutation

Incidental Mutation 'R8812:Itgax'

672497

Institutional Source

Beutler Lab

Gene Symbol

Itgax

Ensembl Gene

ENSMUSG00000030789

Gene Name

integrin alpha X

Synonyms

CD11C (p150) alpha polypeptide, CR4, Cd11c

MMRRC Submission

068647-MU

Accession Numbers

Essential gene?

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

Stock #

R8812 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

127728719-127749829 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 127732979 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Valine at position 286 (A286V)

Ref Sequence

ENSEMBL: ENSMUSP00000033053 (fasta)

Gene Model

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

AlphaFold

Q9QXH4

Predicted Effect

probably damaging
Transcript: ENSMUST00000033053
AA Change: A286V

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000033053
Gene: ENSMUSG00000030789
AA Change: A286V

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: ENSMUST00000205460

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
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 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: 81 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2210408I21Rik	C	A	13: 77,480,471 (GRCm39)	P1167Q	probably damaging	Het
Abtb3	A	G	10: 85,463,113 (GRCm39)	Q626R	probably damaging	Het
Adcy10	A	T	1: 165,378,867 (GRCm39)	Q885H	probably damaging	Het
Alkal2	C	T	12: 30,940,055 (GRCm39)	L139F	probably damaging	Het
Ankrd17	A	T	5: 90,441,062 (GRCm39)	M439K	probably benign	Het
Arl11	C	A	14: 61,548,422 (GRCm39)	Y77*	probably null	Het
Bcas3	T	C	11: 85,449,973 (GRCm39)	Y669H	probably benign	Het
Bpifb3	C	T	2: 153,764,516 (GRCm39)	A136V	probably benign	Het
Ccne2	A	G	4: 11,202,279 (GRCm39)	T345A	probably benign	Het
Ciz1	T	C	2: 32,254,286 (GRCm39)	S76P	probably benign	Het
Clip4	A	T	17: 72,107,800 (GRCm39)	K94*	probably null	Het
Cthrc1	G	A	15: 38,947,866 (GRCm39)	R195H	probably damaging	Het
Ddx31	T	C	2: 28,730,816 (GRCm39)		probably benign	Het
Elf2	T	A	3: 51,174,188 (GRCm39)	D113V	possibly damaging	Het
Esrrb	A	G	12: 86,535,324 (GRCm39)	N155S	probably benign	Het
Flnb	A	G	14: 7,887,624 (GRCm38)	D478G	probably benign	Het
Galm	T	A	17: 80,435,215 (GRCm39)	L24H	probably damaging	Het
Gask1b	T	C	3: 79,816,078 (GRCm39)	S363P	possibly damaging	Het
Gon4l	G	A	3: 88,802,314 (GRCm39)	G975D	possibly damaging	Het
Hspbp1	T	G	7: 4,667,783 (GRCm39)	M237L	probably benign	Het
Ighv1-62-1	A	T	12: 115,350,367 (GRCm39)	M100K	probably damaging	Het
Ipo8	A	T	6: 148,676,575 (GRCm39)	D971E	possibly damaging	Het
Jpt2	T	C	17: 25,179,578 (GRCm39)	Q3R	probably benign	Het
Katnip	A	C	7: 125,396,867 (GRCm39)	R309S	probably benign	Het
Klrg2	A	C	6: 38,613,838 (GRCm39)	L55R	probably damaging	Het
Lrp6	T	A	6: 134,433,141 (GRCm39)	M1397L	probably benign	Het
Lrrc31	T	A	3: 30,733,328 (GRCm39)	Q462L	probably benign	Het
Lyg2	T	A	1: 37,949,054 (GRCm39)	I103F	probably damaging	Het
Map10	T	C	8: 126,396,664 (GRCm39)	V19A	probably damaging	Het
Map1b	T	A	13: 99,569,323 (GRCm39)	M1133L	unknown	Het
Mrgpra4	A	G	7: 47,631,481 (GRCm39)	V40A	probably benign	Het
Myh1	G	A	11: 67,099,967 (GRCm39)	G626R	probably benign	Het
Myo9a	T	C	9: 59,687,030 (GRCm39)	V45A	probably benign	Het
Ncdn	A	G	4: 126,638,905 (GRCm39)	F638S	possibly damaging	Het
Ncs1	T	A	2: 31,174,213 (GRCm39)	M121K	probably damaging	Het
Nf1	T	C	11: 79,437,180 (GRCm39)	V16A	probably damaging	Het
Nktr	T	A	9: 121,579,317 (GRCm39)	D1128E	unknown	Het
Nup205	T	G	6: 35,191,269 (GRCm39)	L1000R	probably damaging	Het
Obscn	T	C	11: 58,925,921 (GRCm39)	E5604G	probably damaging	Het
Or1p4-ps1	T	A	11: 74,208,534 (GRCm39)	S228T	unknown	Het
Or2p2	T	C	13: 21,257,220 (GRCm39)	N84D	probably damaging	Het
Or4a68	A	G	2: 89,270,209 (GRCm39)	V138A	probably benign	Het
Or4c35	G	T	2: 89,808,715 (GRCm39)	A198S	possibly damaging	Het
Or51ah3	G	T	7: 103,209,816 (GRCm39)	C44F	probably benign	Het
Or5b96	A	T	19: 12,867,560 (GRCm39)	V127E	probably damaging	Het
Or7g12	A	G	9: 18,899,812 (GRCm39)	H176R	possibly damaging	Het
Ovch2	T	A	7: 107,392,462 (GRCm39)	I294F	probably damaging	Het
Ovch2	A	T	7: 107,393,251 (GRCm39)	C207*	probably null	Het
P3h2	T	A	16: 25,801,467 (GRCm39)	Y397F	possibly damaging	Het
Pappa	A	T	4: 65,123,166 (GRCm39)	I834F	possibly damaging	Het
Pcdha11	T	C	18: 37,140,716 (GRCm39)	S782P	probably benign	Het
Pex1	T	C	5: 3,681,614 (GRCm39)	V980A	probably benign	Het
Pik3c2a	G	T	7: 115,951,112 (GRCm39)	L1258I	probably damaging	Het
Pmp22	T	A	11: 63,049,239 (GRCm39)	*161R	probably null	Het
Ppp1r26	T	A	2: 28,341,192 (GRCm39)	M274K	probably benign	Het
Ppp6r2	T	C	15: 89,167,275 (GRCm39)	V830A	probably benign	Het
Pramel34	T	C	5: 93,785,660 (GRCm39)	T207A	possibly damaging	Het
Prss1	T	A	6: 41,439,520 (GRCm39)	N84K	probably benign	Het
Rab3il1	G	A	19: 10,004,141 (GRCm39)	A18T	probably damaging	Het
Sbf2	A	T	7: 109,929,069 (GRCm39)	S1471T	probably damaging	Het
Setdb1	T	A	3: 95,263,371 (GRCm39)	D45V	probably damaging	Het
Sik3	G	T	9: 46,089,811 (GRCm39)	V275L	probably benign	Het
Skint6	C	A	4: 112,846,149 (GRCm39)	M659I	probably benign	Het
Slc24a1	T	A	9: 64,835,985 (GRCm39)	D714V	unknown	Het
Slc26a5	T	A	5: 22,018,880 (GRCm39)	D653V	probably damaging	Het
Snrnp27	A	T	6: 86,653,196 (GRCm39)	C141S	probably benign	Het
Stradb	A	G	1: 59,033,478 (GRCm39)	I380M	probably benign	Het
Sult1e1	T	C	5: 87,735,501 (GRCm39)	Y59C	probably benign	Het
Tas2r122	C	T	6: 132,688,702 (GRCm39)	A64T	probably benign	Het
Tep1	C	T	14: 51,074,589 (GRCm39)	C1812Y	probably damaging	Het
Tln2	C	A	9: 67,128,693 (GRCm39)	E1465D	possibly damaging	Het
Trio	A	T	15: 27,905,311 (GRCm39)	C152S	unknown	Het
Tro	G	A	X: 149,438,555 (GRCm39)	S34L	unknown	Het
Vmn1r15	A	G	6: 57,235,123 (GRCm39)		probably benign	Het
Vmn1r19	A	G	6: 57,381,436 (GRCm39)		probably benign	Het
Vmn1r75	A	G	7: 11,614,630 (GRCm39)	T121A	possibly damaging	Het
Vmn2r32	A	G	7: 7,477,669 (GRCm39)	F241L	probably damaging	Het
Vmn2r66	A	G	7: 84,654,893 (GRCm39)	L472P	probably damaging	Het
Ylpm1	G	T	12: 85,043,566 (GRCm39)	W101C	unknown	Het
Zdbf2	C	A	1: 63,347,272 (GRCm39)	H1884N	probably benign	Het
Zfp1005	T	A	2: 150,109,624 (GRCm39)	C105S	possibly 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
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
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
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'- AGTGGGGCCTCCTACAAGAAAG -3'
(R):5'- TTGAAGCAATTGGGTCACAGG -3'

Sequencing Primer
(F):5'- CCCATTTTTACAGTCAGCAGAAGTC -3'
(R):5'- AATTGGGTCACAGGTTCCCAG -3'

Posted On

2021-04-30