Mutagenetix > Incidental Mutation

Incidental Mutation 'R0364:Itga9'

30241

Institutional Source

Beutler Lab

Gene Symbol

Itga9

Ensembl Gene

ENSMUSG00000039115

Gene Name

integrin alpha 9

Synonyms

D9Ertd428e, 6720458D17Rik, 2610002H11Rik

MMRRC Submission

038570-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R0364 (G1)

Quality Score

203

Status

Validated

Chromosome

Chromosomal Location

118435777-118730071 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 118670210 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 177 (T177A)

Ref Sequence

ENSEMBL: ENSMUSP00000122417 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000044165] [ENSMUST00000124360]

AlphaFold

B8JK39

Predicted Effect

probably benign
Transcript: ENSMUST00000044165
AA Change: T763A

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

SMART Domains

Protein: ENSMUSP00000044227
Gene: ENSMUSG00000039115
AA Change: T763A

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

Predicted Effect

probably benign
Transcript: ENSMUST00000124360
AA Change: T177A

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

SMART Domains

Protein: ENSMUSP00000122417
Gene: ENSMUSG00000039115
AA Change: T177A

Domain	Start	End	E-Value	Type
Pfam:Integrin_alpha2	1	357	2.1e-61	PFAM
transmembrane domain	395	417	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000124422

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000139408

Predicted Effect

unknown
Transcript: ENSMUST00000149150
AA Change: T83A

SMART Domains

Protein: ENSMUSP00000122408
Gene: ENSMUSG00000039115
AA Change: T83A

Domain	Start	End	E-Value	Type
Pfam:Integrin_alpha2	1	144	7.8e-24	PFAM

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.0%
3x: 98.0%
10x: 95.3%
20x: 89.3%

Validation Efficiency

99% (86/87)

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: 87 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acp7	G	A	7: 28,310,553 (GRCm39)		probably benign	Het
Ano7	A	G	1: 93,316,380 (GRCm39)	D221G	probably benign	Het
Arhgef12	A	T	9: 42,929,697 (GRCm39)	N199K	probably damaging	Het
Arpc2	A	G	1: 74,276,046 (GRCm39)	N26S	probably null	Het
Camta2	G	A	11: 70,574,136 (GRCm39)	T127I	probably damaging	Het
Ccdc13	T	A	9: 121,627,282 (GRCm39)	N665I	probably damaging	Het
Ccdc178	C	T	18: 22,048,119 (GRCm39)	R757H	probably damaging	Het
Cfap52	A	C	11: 67,844,436 (GRCm39)	I93S	possibly damaging	Het
Cmklr1	A	T	5: 113,752,578 (GRCm39)	L141H	probably damaging	Het
Crybb3	T	A	5: 113,223,819 (GRCm39)	I197F	probably damaging	Het
Cryzl1	G	A	16: 91,504,155 (GRCm39)	P97S	probably benign	Het
Cubn	T	C	2: 13,315,318 (GRCm39)		probably benign	Het
Cyp2d37-ps	T	C	15: 82,574,253 (GRCm39)		noncoding transcript	Het
Cyp4a12b	C	A	4: 115,290,117 (GRCm39)	N223K	probably benign	Het
Dennd2a	T	C	6: 39,485,233 (GRCm39)	T349A	probably benign	Het
Dnah12	A	G	14: 26,445,628 (GRCm39)	T730A	probably benign	Het
Dock5	G	A	14: 68,060,129 (GRCm39)		probably benign	Het
Dync2i1	A	G	12: 116,221,097 (GRCm39)		probably benign	Het
Elac2	A	G	11: 64,870,136 (GRCm39)	Y67C	probably damaging	Het
Elmo1	A	T	13: 20,748,663 (GRCm39)	K503*	probably null	Het
Endou	A	T	15: 97,616,854 (GRCm39)		probably benign	Het
Eng	T	C	2: 32,569,149 (GRCm39)	S559P	probably benign	Het
Epc2	T	A	2: 49,427,145 (GRCm39)	V563E	possibly damaging	Het
Fbxw17	T	C	13: 50,586,477 (GRCm39)	S40P	possibly damaging	Het
Flt4	A	T	11: 49,527,818 (GRCm39)	M924L	probably benign	Het
Fyb1	A	G	15: 6,610,272 (GRCm39)	K282E	probably damaging	Het
Gabpa	T	A	16: 84,654,275 (GRCm39)	N317K	possibly damaging	Het
Gli3	G	T	13: 15,899,349 (GRCm39)	G912V	probably benign	Het
Gm10295	C	A	7: 71,000,361 (GRCm39)	C73F	unknown	Het
Gm10382	G	T	5: 125,466,728 (GRCm39)		probably benign	Het
Gp1ba	T	C	11: 70,531,284 (GRCm39)		probably benign	Het
Gpr146	G	A	5: 139,364,933 (GRCm39)		probably benign	Het
Grm5	A	G	7: 87,723,594 (GRCm39)	Y628C	probably damaging	Het
Hexa	A	G	9: 59,471,218 (GRCm39)	N491D	probably benign	Het
Hexd	T	A	11: 121,102,969 (GRCm39)	H62Q	probably benign	Het
Hpx	G	T	7: 105,245,471 (GRCm39)	Q101K	probably benign	Het
Ino80	G	A	2: 119,213,441 (GRCm39)	R1249C	probably damaging	Het
Inpp4b	A	T	8: 82,723,943 (GRCm39)	T492S	probably benign	Het
Iqgap2	A	C	13: 95,867,783 (GRCm39)		probably benign	Het
Islr2	T	C	9: 58,107,027 (GRCm39)	T78A	possibly damaging	Het
Itpkc	A	C	7: 26,927,174 (GRCm39)	S247A	possibly damaging	Het
Kirrel1	T	C	3: 86,997,106 (GRCm39)	Y287C	probably damaging	Het
Kiz	T	G	2: 146,784,076 (GRCm39)	S536R	probably benign	Het
Klhl9	T	G	4: 88,638,527 (GRCm39)	K571N	probably benign	Het
Kprp	A	T	3: 92,731,642 (GRCm39)	Y469*	probably null	Het
Ksr1	A	T	11: 78,919,851 (GRCm39)		probably benign	Het
Lrrc37a	C	T	11: 103,391,466 (GRCm39)	V1320I	possibly damaging	Het
Ltf	A	T	9: 110,854,235 (GRCm39)	N350I	probably benign	Het
Msl3l2	G	A	10: 55,991,947 (GRCm39)	R224Q	possibly damaging	Het
Myh6	A	T	14: 55,185,804 (GRCm39)	Y1490*	probably null	Het
Necap1	A	G	6: 122,857,728 (GRCm39)		probably benign	Het
Nf1	A	T	11: 79,332,783 (GRCm39)	K810*	probably null	Het
Nkx6-3	A	G	8: 23,647,722 (GRCm39)	E227G	possibly damaging	Het
Nlrp1a	T	A	11: 71,004,830 (GRCm39)		probably benign	Het
Obscn	G	A	11: 59,019,107 (GRCm39)	A969V	probably benign	Het
Or11a4	T	C	17: 37,536,934 (GRCm39)	L306P	possibly damaging	Het
Or7g32	G	A	9: 19,389,268 (GRCm39)	Q90*	probably null	Het
Or8b40	A	G	9: 38,027,325 (GRCm39)	T78A	probably benign	Het
Or8k33	A	T	2: 86,384,123 (GRCm39)	L115Q	probably damaging	Het
Pcdhb17	C	A	18: 37,618,888 (GRCm39)	A226E	possibly damaging	Het
Phldb1	A	T	9: 44,610,632 (GRCm39)		probably benign	Het
Plekha5	G	A	6: 140,537,473 (GRCm39)	R646K	possibly damaging	Het
Pon2	G	A	6: 5,266,156 (GRCm39)	Q288*	probably null	Het
Prr14	G	A	7: 127,073,751 (GRCm39)	R205H	probably benign	Het
Ptpn13	C	A	5: 103,681,214 (GRCm39)	R805S	probably damaging	Het
Pyroxd2	A	T	19: 42,735,992 (GRCm39)	V62D	probably damaging	Het
Rab37	G	T	11: 115,047,790 (GRCm39)	C44F	probably damaging	Het
Rbm44	T	C	1: 91,080,069 (GRCm39)	S52P	probably benign	Het
Rusf1	C	T	7: 127,889,786 (GRCm39)	R1H	probably damaging	Het
Scn5a	T	C	9: 119,351,665 (GRCm39)	D772G	probably damaging	Het
Slc7a5	A	G	8: 122,611,754 (GRCm39)	F425L	probably benign	Het
Slk	T	A	19: 47,608,628 (GRCm39)	L527*	probably null	Het
Stpg4	T	A	17: 87,697,142 (GRCm39)		probably null	Het
Taar6	C	A	10: 23,861,046 (GRCm39)	V167L	probably benign	Het
Tas2r123	T	A	6: 132,824,644 (GRCm39)	S180R	probably benign	Het
Tmc2	C	T	2: 130,044,023 (GRCm39)	R86W	probably benign	Het
Tmem200c	T	A	17: 69,147,543 (GRCm39)	V42E	probably damaging	Het
Trhde	T	C	10: 114,338,887 (GRCm39)		probably benign	Het
Tshz1	A	T	18: 84,034,249 (GRCm39)	I53N	probably benign	Het
Tshz3	A	G	7: 36,469,958 (GRCm39)	E649G	probably benign	Het
Ttll7	C	A	3: 146,650,936 (GRCm39)	R719S	possibly damaging	Het
Utp4	T	C	8: 107,625,169 (GRCm39)		probably benign	Het
Vmn1r35	A	G	6: 66,655,827 (GRCm39)	I281T	probably damaging	Het
Vps39	T	G	2: 120,176,119 (GRCm39)	K76T	probably damaging	Het
Whamm	A	G	7: 81,243,799 (GRCm39)	T674A	probably benign	Het
Zbtb16	A	G	9: 48,654,876 (GRCm39)		probably benign	Het
Zfp623	T	C	15: 75,820,510 (GRCm39)	S489P	probably benign	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
R0179:Itga9	UTSW	9	118,490,454 (GRCm39)	missense	probably benign	0.11
R0207:Itga9	UTSW	9	118,598,321 (GRCm39)	splice site	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'- CCCTTTGTACACACAGAATGGGGAC -3'
(R):5'- TCTGGCTGTACTCAAGGACGTGAC -3'

Sequencing Primer
(F):5'- ACAGATTGGGTGAGTCTGAAG -3'
(R):5'- GAACACTCAGTGGTAGTCTTCAG -3'

Posted On

2013-04-24