Mutagenetix > Incidental Mutation

Incidental Mutation 'R0179:Itga9'

23050

Institutional Source

Beutler Lab

Gene Symbol

Itga9

Ensembl Gene

ENSMUSG00000039115

Gene Name

integrin alpha 9

Synonyms

D9Ertd428e, 6720458D17Rik, 2610002H11Rik

MMRRC Submission

038447-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R0179 (G1)

Quality Score

203

Status

Validated (trace)

Chromosome

Chromosomal Location

118435777-118730071 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 118490454 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Phenylalanine at position 262 (I262F)

Ref Sequence

ENSEMBL: ENSMUSP00000044227 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000044165]

AlphaFold

B8JK39

Predicted Effect

probably benign
Transcript: ENSMUST00000044165
AA Change: I262F

PolyPhen 2 Score 0.107 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000044227
Gene: ENSMUSG00000039115
AA Change: I262F

Domain	Start	End	E-Value	Type
signal peptide	1	30	N/A	INTRINSIC
Int_alpha	45	105	8.95e-7	SMART
low complexity region	181	191	N/A	INTRINSIC
Int_alpha	244	297	2.12e-8	SMART
Int_alpha	301	356	1.68e-11	SMART
Int_alpha	361	416	2.9e-15	SMART
Int_alpha	423	476	1.11e-2	SMART
SCOP:d1m1xa2	626	766	3e-32	SMART
SCOP:d1m1xa3	769	970	1e-39	SMART
transmembrane domain	981	1003	N/A	INTRINSIC

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.8%
20x: 94.1%

Validation Efficiency

98% (81/83)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes an alpha integrin. Integrins are heterodimeric integral membrane glycoproteins composed of an alpha chain and a beta chain that mediate cell-cell and cell-matrix adhesion. The protein encoded by this gene, when bound to the beta 1 chain, forms an integrin that is a receptor for VCAM1, cytotactin and osteopontin. Expression of this gene has been found to be upregulated in small cell lung cancers. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous mutation of this gene results in respiratory distress leading to postnatal lethality caused by an accumulation of pleural fluid rich in triglyceride, cholesterol and lymphocytes. Mice develop edema and lymphocytic infiltration in the chest wall. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 80 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts1	C	T	16: 85,592,353 (GRCm39)	S948N	probably benign	Het
Adck1	A	T	12: 88,425,942 (GRCm39)	M457L	possibly damaging	Het
Adprm	A	T	11: 66,929,051 (GRCm39)	H313Q	possibly damaging	Het
Adss1	T	C	12: 112,598,703 (GRCm39)	I104T	probably benign	Het
Agxt2	A	C	15: 10,399,134 (GRCm39)	Q435P	possibly damaging	Het
Amotl1	G	A	9: 14,460,069 (GRCm39)	A890V	probably benign	Het
Ankrd50	A	G	3: 38,509,463 (GRCm39)	V968A	possibly damaging	Het
Brf2	T	C	8: 27,615,896 (GRCm39)	D163G	possibly damaging	Het
Cd226	C	A	18: 89,225,263 (GRCm39)	N53K	probably benign	Het
Cdc42ep2	T	C	19: 5,968,636 (GRCm39)	D23G	probably benign	Het
Cdc7	T	C	5: 107,112,905 (GRCm39)	S8P	probably benign	Het
Cdh8	C	T	8: 99,838,344 (GRCm39)	E499K	possibly damaging	Het
Chd7	T	A	4: 8,862,516 (GRCm39)	F2534L	probably benign	Het
Ckb	T	C	12: 111,636,610 (GRCm39)	T255A	probably benign	Het
Cntnap5c	G	T	17: 58,076,620 (GRCm39)	W19L	probably benign	Het
Cntrl	A	G	2: 35,057,871 (GRCm39)	E1854G	probably benign	Het
Colec12	C	T	18: 9,858,921 (GRCm39)	P568L	unknown	Het
Cop1	A	G	1: 159,077,636 (GRCm39)	D157G	probably benign	Het
Csf2rb	A	C	15: 78,220,572 (GRCm39)	Q38P	possibly damaging	Het
Ctla2b	T	C	13: 61,044,107 (GRCm39)	D52G	possibly damaging	Het
Dcaf7	A	T	11: 105,942,623 (GRCm39)	D190V	probably damaging	Het
Depdc5	T	A	5: 33,058,918 (GRCm39)		probably benign	Het
Dgkq	A	G	5: 108,806,066 (GRCm39)		probably benign	Het
Dhrs2	A	G	14: 55,477,933 (GRCm39)	T222A	probably damaging	Het
Dock1	G	A	7: 134,700,566 (GRCm39)	D1109N	probably damaging	Het
E4f1	G	C	17: 24,670,411 (GRCm39)	T92S	possibly damaging	Het
Ep400	A	T	5: 110,816,515 (GRCm39)	S2669T	probably damaging	Het
Eprs1	T	G	1: 185,145,744 (GRCm39)	D1184E	probably benign	Het
Fpr-rs4	A	T	17: 18,242,289 (GRCm39)	K99*	probably null	Het
Fzr1	A	T	10: 81,204,904 (GRCm39)		probably benign	Het
Gcc2	C	T	10: 58,112,472 (GRCm39)	R1001C	probably benign	Het
Gm4884	A	G	7: 40,693,252 (GRCm39)	D407G	probably benign	Het
Golga4	A	T	9: 118,389,808 (GRCm39)		probably null	Het
Gp2	T	G	7: 119,051,540 (GRCm39)	D225A	possibly damaging	Het
Gramd1a	T	A	7: 30,841,843 (GRCm39)	T120S	probably damaging	Het
Hbb-bh2	T	A	7: 103,488,434 (GRCm39)	N121I	probably benign	Het
Htr6	A	T	4: 138,789,437 (GRCm39)	L276Q	probably damaging	Het
Lamc3	A	G	2: 31,805,096 (GRCm39)		probably benign	Het
Large1	T	C	8: 73,825,474 (GRCm39)	N200S	probably benign	Het
Lct	C	T	1: 128,255,422 (GRCm39)	V207I	probably benign	Het
Marf1	C	A	16: 13,969,040 (GRCm39)	L144F	probably damaging	Het
Morc2b	A	T	17: 33,355,956 (GRCm39)	Y605*	probably null	Het
Mtus1	G	T	8: 41,455,398 (GRCm39)	L87I	possibly damaging	Het
Muc2	A	G	7: 141,302,708 (GRCm39)	Y17C	probably damaging	Het
Myf5	T	C	10: 107,321,779 (GRCm39)	D5G	possibly damaging	Het
Nasp	C	T	4: 116,459,354 (GRCm39)	V375M	probably damaging	Het
Nr1h2	A	T	7: 44,201,689 (GRCm39)		probably null	Het
Nrg2	T	C	18: 36,155,468 (GRCm39)	Q447R	probably benign	Het
Ntn5	G	A	7: 45,335,737 (GRCm39)	G56D	probably damaging	Het
Oasl2	A	G	5: 115,048,973 (GRCm39)	R138G	probably benign	Het
Or4c29	A	T	2: 88,740,237 (GRCm39)	C167S	possibly damaging	Het
Or5b124	T	A	19: 13,610,504 (GRCm39)	F10I	probably damaging	Het
Or9k7	T	C	10: 130,046,207 (GRCm39)	Y264C	probably damaging	Het
Pcdhb5	G	A	18: 37,455,612 (GRCm39)	G664D	probably damaging	Het
Ppp1r15a	T	C	7: 45,174,424 (GRCm39)	E128G	probably damaging	Het
Prpf19	T	C	19: 10,875,172 (GRCm39)		probably benign	Het
Ptpn3	T	A	4: 57,270,118 (GRCm39)	T15S	probably benign	Het
R3hdm2	G	A	10: 127,330,975 (GRCm39)	C818Y	probably damaging	Het
Rad51d	A	G	11: 82,780,824 (GRCm39)	V39A	possibly damaging	Het
Rptor	A	T	11: 119,763,193 (GRCm39)	T926S	probably benign	Het
Rwdd4a	G	A	8: 47,995,742 (GRCm39)	D41N	probably damaging	Het
Sephs1	A	G	2: 4,904,371 (GRCm39)	T250A	probably benign	Het
Spata31g1	T	C	4: 42,972,214 (GRCm39)	S516P	probably benign	Het
Ssbp3	T	C	4: 106,903,585 (GRCm39)	S334P	probably damaging	Het
Suco	A	G	1: 161,703,874 (GRCm39)		probably benign	Het
Synj1	T	C	16: 90,761,519 (GRCm39)	K649R	possibly damaging	Het
Tdp2	C	T	13: 25,024,431 (GRCm39)	H243Y	possibly damaging	Het
Tinag	A	G	9: 76,904,164 (GRCm39)		probably benign	Het
Trerf1	T	C	17: 47,627,588 (GRCm39)		noncoding transcript	Het
Trip10	T	C	17: 57,569,349 (GRCm39)		probably benign	Het
Tsen54	A	T	11: 115,712,856 (GRCm39)	S131C	probably damaging	Het
Unc5c	A	T	3: 141,523,828 (GRCm39)	R794*	probably null	Het
Vmn2r59	A	T	7: 41,696,432 (GRCm39)	Y103*	probably null	Het
Washc5	A	G	15: 59,224,379 (GRCm39)	V460A	probably benign	Het
Wdr87-ps	A	G	7: 29,235,365 (GRCm39)		noncoding transcript	Het
Whamm	A	G	7: 81,243,763 (GRCm39)	T358A	probably benign	Het
Xlr4b	C	T	X: 72,262,277 (GRCm39)		probably benign	Het
Zbbx	C	T	3: 74,992,869 (GRCm39)		probably benign	Het
Zdhhc23	G	A	16: 43,794,066 (GRCm39)	P203S	probably benign	Het
Zfp27	T	A	7: 29,595,850 (GRCm39)	E38D	possibly damaging	Het

Other mutations in Itga9

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01310:Itga9	APN	9	118,598,227 (GRCm39)	start codon destroyed	probably null	0.02
IGL01396:Itga9	APN	9	118,436,191 (GRCm39)	splice site	probably benign
IGL01476:Itga9	APN	9	118,436,179 (GRCm39)	missense	probably damaging	1.00
IGL01573:Itga9	APN	9	118,706,298 (GRCm39)	splice site	probably benign
IGL01958:Itga9	APN	9	118,465,562 (GRCm39)	splice site	probably benign
IGL02060:Itga9	APN	9	118,490,500 (GRCm39)	missense	probably damaging	1.00
IGL02146:Itga9	APN	9	118,663,400 (GRCm39)	missense	possibly damaging	0.50
IGL02391:Itga9	APN	9	118,679,873 (GRCm39)	missense	probably benign	0.19
IGL02947:Itga9	APN	9	118,487,601 (GRCm39)	missense	probably damaging	1.00
IGL03014:Itga9	UTSW	9	118,457,212 (GRCm39)	missense	probably benign
R0052:Itga9	UTSW	9	118,465,617 (GRCm39)	missense	probably damaging	1.00
R0052:Itga9	UTSW	9	118,465,617 (GRCm39)	missense	probably damaging	1.00
R0142:Itga9	UTSW	9	118,465,654 (GRCm39)	missense	probably damaging	0.96
R0207:Itga9	UTSW	9	118,598,321 (GRCm39)	splice site	probably benign
R0364:Itga9	UTSW	9	118,670,210 (GRCm39)	missense	probably benign
R0458:Itga9	UTSW	9	118,510,096 (GRCm39)	critical splice donor site	probably null
R1486:Itga9	UTSW	9	118,455,518 (GRCm39)	missense	probably damaging	0.98
R1589:Itga9	UTSW	9	118,436,185 (GRCm39)	critical splice donor site	probably null
R1620:Itga9	UTSW	9	118,672,570 (GRCm39)	missense	probably benign	0.00
R1711:Itga9	UTSW	9	118,527,529 (GRCm39)	missense	probably benign	0.00
R1721:Itga9	UTSW	9	118,527,374 (GRCm39)	splice site	probably benign
R2064:Itga9	UTSW	9	118,636,361 (GRCm39)	missense	probably damaging	0.99
R2201:Itga9	UTSW	9	118,706,183 (GRCm39)	splice site	probably benign
R2851:Itga9	UTSW	9	118,465,604 (GRCm39)	missense	probably damaging	0.98
R2853:Itga9	UTSW	9	118,465,604 (GRCm39)	missense	probably damaging	0.98
R3962:Itga9	UTSW	9	118,457,254 (GRCm39)	missense	possibly damaging	0.57
R4180:Itga9	UTSW	9	118,436,146 (GRCm39)	missense	probably damaging	1.00
R4597:Itga9	UTSW	9	118,672,582 (GRCm39)	missense	probably damaging	1.00
R4716:Itga9	UTSW	9	118,510,826 (GRCm39)	missense	probably damaging	0.98
R4929:Itga9	UTSW	9	118,636,317 (GRCm39)	missense	probably damaging	1.00
R5002:Itga9	UTSW	9	118,492,966 (GRCm39)	nonsense	probably null
R5279:Itga9	UTSW	9	118,457,273 (GRCm39)	missense	probably damaging	1.00
R5542:Itga9	UTSW	9	118,672,729 (GRCm39)	missense	possibly damaging	0.86
R5869:Itga9	UTSW	9	118,492,957 (GRCm39)	missense	probably damaging	1.00
R6372:Itga9	UTSW	9	118,726,389 (GRCm39)	missense	probably damaging	1.00
R6470:Itga9	UTSW	9	118,726,335 (GRCm39)	missense	probably damaging	0.99
R6581:Itga9	UTSW	9	118,487,632 (GRCm39)	missense	probably benign	0.00
R6919:Itga9	UTSW	9	118,716,883 (GRCm39)	missense	probably damaging	1.00
R7034:Itga9	UTSW	9	118,527,433 (GRCm39)	missense	probably benign	0.00
R7036:Itga9	UTSW	9	118,527,433 (GRCm39)	missense	probably benign	0.00
R7043:Itga9	UTSW	9	118,598,184 (GRCm39)	missense	probably damaging	0.96
R7237:Itga9	UTSW	9	118,465,670 (GRCm39)	missense	probably benign	0.09
R7491:Itga9	UTSW	9	118,598,179 (GRCm39)	missense	probably damaging	0.99
R7629:Itga9	UTSW	9	118,527,514 (GRCm39)	missense	probably benign	0.00
R7774:Itga9	UTSW	9	118,700,968 (GRCm39)	missense	probably damaging	1.00
R7782:Itga9	UTSW	9	118,672,712 (GRCm39)	missense
R7789:Itga9	UTSW	9	118,487,564 (GRCm39)	missense	possibly damaging	0.80
R7904:Itga9	UTSW	9	118,706,294 (GRCm39)	splice site	probably null
R8086:Itga9	UTSW	9	118,679,869 (GRCm39)	missense	probably benign
R8158:Itga9	UTSW	9	118,706,211 (GRCm39)	missense	probably damaging	0.99
R8204:Itga9	UTSW	9	118,700,989 (GRCm39)	missense	probably damaging	1.00
R8895:Itga9	UTSW	9	118,510,835 (GRCm39)	missense	probably damaging	1.00
R9074:Itga9	UTSW	9	118,636,344 (GRCm39)	missense	probably damaging	1.00
R9090:Itga9	UTSW	9	118,500,859 (GRCm39)	missense	possibly damaging	0.93
R9271:Itga9	UTSW	9	118,500,859 (GRCm39)	missense	possibly damaging	0.93
R9318:Itga9	UTSW	9	118,455,536 (GRCm39)	missense	probably benign	0.03
R9434:Itga9	UTSW	9	118,636,315 (GRCm39)	missense	probably damaging	1.00
Z1176:Itga9	UTSW	9	118,716,907 (GRCm39)	missense	probably damaging	1.00
Z1176:Itga9	UTSW	9	118,672,598 (GRCm39)	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- GCACAGTCTGAAGGCATGATCCTC -3'
(R):5'- CCGGTCACTTACACATCAGCCTATC -3'

Sequencing Primer
(F):5'- AACGTGCCTTTCTGTGAGATAAG -3'
(R):5'- CACATCAGCCTATCTGGAGAGTG -3'

Posted On

2013-04-16