Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01573:Itga9'

91173

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Itga9

Ensembl Gene

ENSMUSG00000039115

Gene Name

integrin alpha 9

Synonyms

D9Ertd428e, 6720458D17Rik, 2610002H11Rik

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL01573

Quality Score

Status

Chromosome

Chromosomal Location

118435777-118730071 bp(+) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

C to A at 118706298 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000122417 (fasta)

Gene Model

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

AlphaFold

B8JK39

Predicted Effect

probably benign
Transcript: ENSMUST00000044165

SMART Domains

Protein: ENSMUSP00000044227
Gene: ENSMUSG00000039115

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

SMART Domains

Protein: ENSMUSP00000122417
Gene: ENSMUSG00000039115

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: ENSMUST00000155437

Coding Region Coverage

Validation Efficiency

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: 18 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
B3gntl1	A	G	11: 121,561,789 (GRCm39)	S58P	probably damaging	Het
Cacna1e	T	C	1: 154,347,113 (GRCm39)	D1018G	probably benign	Het
Cenpq	T	C	17: 41,240,936 (GRCm39)	I108V	possibly damaging	Het
Il7	T	C	3: 7,638,903 (GRCm39)	I154M	possibly damaging	Het
Klhl1	A	G	14: 96,438,640 (GRCm39)		probably benign	Het
Lrrc72	T	A	12: 36,262,561 (GRCm39)		probably null	Het
Mbd3	G	T	10: 80,229,095 (GRCm39)	Q233K	probably benign	Het
Mettl5	G	A	2: 69,711,659 (GRCm39)	A69V	probably damaging	Het
Naip1	C	A	13: 100,563,890 (GRCm39)	C425F	probably benign	Het
Ncor2	T	C	5: 125,162,090 (GRCm39)	I395V	unknown	Het
Nelfb	A	G	2: 25,093,969 (GRCm39)	L393P	probably damaging	Het
Or4a70	A	T	2: 89,324,545 (GRCm39)	M37K	probably damaging	Het
Rgs5	T	C	1: 169,504,413 (GRCm39)	I21T	probably benign	Het
Slc22a2	G	A	17: 12,824,848 (GRCm39)	V237I	probably damaging	Het
Slc5a1	A	G	5: 33,318,209 (GRCm39)	M621V	probably benign	Het
Slco1a4	A	G	6: 141,758,577 (GRCm39)		probably benign	Het
Smg1	A	G	7: 117,767,185 (GRCm39)		probably benign	Het
Trim3	A	G	7: 105,274,700 (GRCm39)	M15T	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
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
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

Posted On

2013-12-09