Mutagenetix > Incidental Mutation

Incidental Mutation 'R1589:Itga9'

177737

Institutional Source

Beutler Lab

Gene Symbol

Itga9

Ensembl Gene

ENSMUSG00000039115

Gene Name

integrin alpha 9

Synonyms

D9Ertd428e, 2610002H11Rik, 6720458D17Rik

MMRRC Submission

039626-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R1589 (G1)

Quality Score

Status

Validated

Chromosome

Chromosomal Location

118606690-118901003 bp(+) (GRCm38)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

T to C at 118607117 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000044227 (fasta)

Gene Model

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

AlphaFold

B8JK39

Predicted Effect

probably null
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

Meta Mutation Damage Score

0.9393

Coding Region Coverage

1x: 99.0%
3x: 98.2%
10x: 95.8%
20x: 90.8%

Validation Efficiency

97% (89/92)

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
1700008P02Rik	A	G	3: 6,620,441 (GRCm38)		probably benign	Het
Aadacl2	C	T	3: 60,010,576 (GRCm38)	T82I	probably benign	Het
Acadl	T	C	1: 66,853,223 (GRCm38)	N147S	probably benign	Het
Actr3	A	T	1: 125,408,563 (GRCm38)	M79K	probably damaging	Het
Agbl3	A	G	6: 34,857,517 (GRCm38)	S874G	possibly damaging	Het
Aoah	A	T	13: 21,002,948 (GRCm38)	T472S	probably damaging	Het
Asb16	A	T	11: 102,268,995 (GRCm38)	D58V	probably damaging	Het
B4galt1	T	C	4: 40,823,575 (GRCm38)	D172G	probably benign	Het
Bax	T	C	7: 45,465,247 (GRCm38)	N55S	possibly damaging	Het
Bdkrb2	A	G	12: 105,591,859 (GRCm38)	N120D	possibly damaging	Het
Bicdl1	T	C	5: 115,651,266 (GRCm38)		probably benign	Het
Cand1	A	G	10: 119,213,566 (GRCm38)	L425P	probably damaging	Het
Caskin1	G	A	17: 24,505,478 (GRCm38)		probably null	Het
Cd248	C	T	19: 5,069,932 (GRCm38)	P603S	probably benign	Het
Cep95	G	T	11: 106,800,104 (GRCm38)	R143L	probably benign	Het
Clptm1l	G	T	13: 73,614,673 (GRCm38)		probably null	Het
Cntnap5a	T	C	1: 116,060,200 (GRCm38)	F154L	possibly damaging	Het
Cyld	A	T	8: 88,709,990 (GRCm38)	I303F	possibly damaging	Het
Dock2	A	G	11: 34,706,461 (GRCm38)	S370P	probably damaging	Het
Enah	G	T	1: 181,922,293 (GRCm38)	T327K	probably damaging	Het
Farp2	A	T	1: 93,579,860 (GRCm38)	S427C	probably damaging	Het
Fbxw11	C	T	11: 32,733,612 (GRCm38)	T301M	probably damaging	Het
Foxc2	A	T	8: 121,117,176 (GRCm38)	T188S	probably benign	Het
Fzd2	A	G	11: 102,606,328 (GRCm38)	T533A	probably benign	Het
Glb1l2	G	T	9: 26,769,038 (GRCm38)	S248*	probably null	Het
Glul	A	T	1: 153,905,538 (GRCm38)		probably benign	Het
Gm28042	A	G	2: 120,041,406 (GRCm38)	T946A	probably benign	Het
Golga3	T	A	5: 110,181,783 (GRCm38)	D2E	probably damaging	Het
Grm1	A	T	10: 10,719,967 (GRCm38)	F639Y	probably benign	Het
Gzmn	A	G	14: 56,165,911 (GRCm38)	L247P	probably benign	Het
Hgf	T	G	5: 16,613,785 (GRCm38)	I525R	probably damaging	Het
Hnrnpul2	T	A	19: 8,831,332 (GRCm38)	D719E	probably benign	Het
Itga10	C	T	3: 96,651,738 (GRCm38)		probably benign	Het
Itgb1	G	T	8: 128,705,459 (GRCm38)	C16F	possibly damaging	Het
Itgb1	T	A	8: 128,705,458 (GRCm38)	C16S	probably damaging	Het
Kat14	A	G	2: 144,394,100 (GRCm38)	I251V	probably benign	Het
Kdsr	A	T	1: 106,734,541 (GRCm38)		probably null	Het
Kif12	T	A	4: 63,166,500 (GRCm38)	E527V	probably benign	Het
Larp1b	T	C	3: 41,033,474 (GRCm38)	S44P	probably damaging	Het
Lonp2	T	C	8: 86,673,072 (GRCm38)		probably benign	Het
Lrp1	C	T	10: 127,605,606 (GRCm38)	S216N	probably benign	Het
Lrrc19	T	C	4: 94,640,950 (GRCm38)	S32G	probably benign	Het
Mdm2	G	A	10: 117,690,529 (GRCm38)	T335M	probably benign	Het
Mettl25	A	G	10: 105,779,632 (GRCm38)	Y504H	probably damaging	Het
Mill1	T	C	7: 18,245,647 (GRCm38)	I13T	probably benign	Het
Mmachc	T	A	4: 116,703,524 (GRCm38)	Q258L	probably benign	Het
Mpdz	T	A	4: 81,421,176 (GRCm38)	I5L	probably benign	Het
Mrps2	C	T	2: 28,469,488 (GRCm38)	A119V	probably benign	Het
Mtmr11	A	G	3: 96,168,113 (GRCm38)	T370A	probably benign	Het
Nmi	T	C	2: 51,958,977 (GRCm38)	I34V	possibly damaging	Het
Obscn	A	T	11: 59,036,075 (GRCm38)	M5538K	possibly damaging	Het
Ogdhl	T	C	14: 32,325,865 (GRCm38)	I24T	probably benign	Het
Olfr1477	C	T	19: 13,502,757 (GRCm38)	T138M	probably benign	Het
Olfr675	A	G	7: 105,024,560 (GRCm38)	V140A	probably benign	Het
Olfr703	A	G	7: 106,845,196 (GRCm38)	Y195C	possibly damaging	Het
Olfr816	A	G	10: 129,911,681 (GRCm38)	V199A	probably benign	Het
Omp	G	T	7: 98,145,359 (GRCm38)	D20E	probably benign	Het
Otog	A	G	7: 46,283,908 (GRCm38)	H1291R	probably benign	Het
Pgbd1	A	G	13: 21,423,292 (GRCm38)	L244P	probably damaging	Het
Ranbp2	A	G	10: 58,463,986 (GRCm38)	I481V	probably benign	Het
Rbp3	A	T	14: 33,955,792 (GRCm38)	I566F	probably damaging	Het
Rsph4a	A	G	10: 33,905,529 (GRCm38)	D125G	probably benign	Het
Scn11a	A	G	9: 119,769,807 (GRCm38)	V1219A	probably damaging	Het
Serpine3	G	A	14: 62,674,381 (GRCm38)	G264D	probably benign	Het
Slc4a10	T	C	2: 62,257,462 (GRCm38)	F400L	probably damaging	Het
Slco1a4	C	T	6: 141,845,447 (GRCm38)	V8I	probably benign	Het
Soga1	A	T	2: 157,027,637 (GRCm38)	M1026K	probably benign	Het
Spen	T	C	4: 141,488,024 (GRCm38)	D499G	unknown	Het
Stk32c	A	G	7: 139,119,015 (GRCm38)		probably null	Het
Tars	A	G	15: 11,388,175 (GRCm38)	V485A	probably benign	Het
Tcerg1l	A	G	7: 138,361,767 (GRCm38)	L258P	probably damaging	Het
Tmc2	A	T	2: 130,247,960 (GRCm38)	I622F	probably damaging	Het
Tmem183a	A	T	1: 134,354,706 (GRCm38)	N220K	probably damaging	Het
Tnni3	T	C	7: 4,520,526 (GRCm38)	D146G	probably damaging	Het
Trappc11	G	T	8: 47,501,680 (GRCm38)	D908E	probably damaging	Het
Trappc8	A	G	18: 20,863,551 (GRCm38)	Y436H	probably damaging	Het
Ttc41	G	A	10: 86,776,390 (GRCm38)	V1176I	probably benign	Het
Ube2b	A	G	11: 51,997,872 (GRCm38)	V24A	probably benign	Het
Usp30	T	C	5: 114,112,961 (GRCm38)	C233R	probably damaging	Het
Vmn1r87	T	A	7: 13,131,776 (GRCm38)	T195S	possibly damaging	Het
Vmn2r24	T	C	6: 123,806,520 (GRCm38)		probably benign	Het
Vmn2r81	C	A	10: 79,293,024 (GRCm38)	T583N	probably damaging	Het
Vwa8	C	T	14: 78,908,230 (GRCm38)	R116C	probably damaging	Het
Wdr1	C	A	5: 38,529,972 (GRCm38)	V239L	probably benign	Het
Wdr17	C	T	8: 54,703,907 (GRCm38)		probably benign	Het
Zfhx4	A	C	3: 5,241,729 (GRCm38)	D5A	probably damaging	Het
Zfyve27	T	C	19: 42,171,745 (GRCm38)		probably null	Het

Other mutations in Itga9

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01310:Itga9	APN	9	118,769,159 (GRCm38)	start codon destroyed	probably null	0.02
IGL01396:Itga9	APN	9	118,607,123 (GRCm38)	splice site	probably benign
IGL01476:Itga9	APN	9	118,607,111 (GRCm38)	missense	probably damaging	1.00
IGL01573:Itga9	APN	9	118,877,230 (GRCm38)	splice site	probably benign
IGL01958:Itga9	APN	9	118,636,494 (GRCm38)	splice site	probably benign
IGL02060:Itga9	APN	9	118,661,432 (GRCm38)	missense	probably damaging	1.00
IGL02146:Itga9	APN	9	118,834,332 (GRCm38)	missense	possibly damaging	0.50
IGL02391:Itga9	APN	9	118,850,805 (GRCm38)	missense	probably benign	0.19
IGL02947:Itga9	APN	9	118,658,533 (GRCm38)	missense	probably damaging	1.00
IGL03014:Itga9	UTSW	9	118,628,144 (GRCm38)	missense	probably benign
R0052:Itga9	UTSW	9	118,636,549 (GRCm38)	missense	probably damaging	1.00
R0052:Itga9	UTSW	9	118,636,549 (GRCm38)	missense	probably damaging	1.00
R0142:Itga9	UTSW	9	118,636,586 (GRCm38)	missense	probably damaging	0.96
R0179:Itga9	UTSW	9	118,661,386 (GRCm38)	missense	probably benign	0.11
R0207:Itga9	UTSW	9	118,769,253 (GRCm38)	splice site	probably benign
R0364:Itga9	UTSW	9	118,841,142 (GRCm38)	missense	probably benign
R0458:Itga9	UTSW	9	118,681,028 (GRCm38)	critical splice donor site	probably null
R1486:Itga9	UTSW	9	118,626,450 (GRCm38)	missense	probably damaging	0.98
R1620:Itga9	UTSW	9	118,843,502 (GRCm38)	missense	probably benign	0.00
R1711:Itga9	UTSW	9	118,698,461 (GRCm38)	missense	probably benign	0.00
R1721:Itga9	UTSW	9	118,698,306 (GRCm38)	splice site	probably benign
R2064:Itga9	UTSW	9	118,807,293 (GRCm38)	missense	probably damaging	0.99
R2201:Itga9	UTSW	9	118,877,115 (GRCm38)	splice site	probably benign
R2851:Itga9	UTSW	9	118,636,536 (GRCm38)	missense	probably damaging	0.98
R2853:Itga9	UTSW	9	118,636,536 (GRCm38)	missense	probably damaging	0.98
R3962:Itga9	UTSW	9	118,628,186 (GRCm38)	missense	possibly damaging	0.57
R4180:Itga9	UTSW	9	118,607,078 (GRCm38)	missense	probably damaging	1.00
R4597:Itga9	UTSW	9	118,843,514 (GRCm38)	missense	probably damaging	1.00
R4716:Itga9	UTSW	9	118,681,758 (GRCm38)	missense	probably damaging	0.98
R4929:Itga9	UTSW	9	118,807,249 (GRCm38)	missense	probably damaging	1.00
R5002:Itga9	UTSW	9	118,663,898 (GRCm38)	nonsense	probably null
R5279:Itga9	UTSW	9	118,628,205 (GRCm38)	missense	probably damaging	1.00
R5542:Itga9	UTSW	9	118,843,661 (GRCm38)	missense	possibly damaging	0.86
R5869:Itga9	UTSW	9	118,663,889 (GRCm38)	missense	probably damaging	1.00
R6372:Itga9	UTSW	9	118,897,321 (GRCm38)	missense	probably damaging	1.00
R6470:Itga9	UTSW	9	118,897,267 (GRCm38)	missense	probably damaging	0.99
R6581:Itga9	UTSW	9	118,658,564 (GRCm38)	missense	probably benign	0.00
R6919:Itga9	UTSW	9	118,887,815 (GRCm38)	missense	probably damaging	1.00
R7034:Itga9	UTSW	9	118,698,365 (GRCm38)	missense	probably benign	0.00
R7036:Itga9	UTSW	9	118,698,365 (GRCm38)	missense	probably benign	0.00
R7043:Itga9	UTSW	9	118,769,116 (GRCm38)	missense	probably damaging	0.96
R7237:Itga9	UTSW	9	118,636,602 (GRCm38)	missense	probably benign	0.09
R7491:Itga9	UTSW	9	118,769,111 (GRCm38)	missense	probably damaging	0.99
R7629:Itga9	UTSW	9	118,698,446 (GRCm38)	missense	probably benign	0.00
R7774:Itga9	UTSW	9	118,871,900 (GRCm38)	missense	probably damaging	1.00
R7782:Itga9	UTSW	9	118,843,644 (GRCm38)	missense
R7789:Itga9	UTSW	9	118,658,496 (GRCm38)	missense	possibly damaging	0.80
R7904:Itga9	UTSW	9	118,877,226 (GRCm38)	splice site	probably null
R8086:Itga9	UTSW	9	118,850,801 (GRCm38)	missense	probably benign
R8158:Itga9	UTSW	9	118,877,143 (GRCm38)	missense	probably damaging	0.99
R8204:Itga9	UTSW	9	118,871,921 (GRCm38)	missense	probably damaging	1.00
R8895:Itga9	UTSW	9	118,681,767 (GRCm38)	missense	probably damaging	1.00
R9074:Itga9	UTSW	9	118,807,276 (GRCm38)	missense	probably damaging	1.00
R9090:Itga9	UTSW	9	118,671,791 (GRCm38)	missense	possibly damaging	0.93
R9271:Itga9	UTSW	9	118,671,791 (GRCm38)	missense	possibly damaging	0.93
R9318:Itga9	UTSW	9	118,626,468 (GRCm38)	missense	probably benign	0.03
R9434:Itga9	UTSW	9	118,807,247 (GRCm38)	missense	probably damaging	1.00
Z1176:Itga9	UTSW	9	118,887,839 (GRCm38)	missense	probably damaging	1.00
Z1176:Itga9	UTSW	9	118,843,530 (GRCm38)	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- GGACATTGAGAGGATGCAGTTCACC -3'
(R):5'- CAGCCAAGTAACTTTGCTTTGGCG -3'

Sequencing Primer
(F):5'- gccTCTCCGCAGTCCAG -3'
(R):5'- AAGCTGCGTCTGACTGC -3'

Posted On

2014-04-24