Mutagenetix > Incidental Mutation

Incidental Mutation 'R0207:Itga9'

33408

Institutional Source

Beutler Lab

Gene Symbol

Itga9

Ensembl Gene

ENSMUSG00000039115

Gene Name

integrin alpha 9

Synonyms

D9Ertd428e, 6720458D17Rik, 2610002H11Rik

MMRRC Submission

038460-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R0207 (G1)

Quality Score

185

Status

Validated

Chromosome

Chromosomal Location

118435777-118730071 bp(+) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

T to C at 118598321 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: ENSMUST00000125021

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.2%
20x: 95.5%

Validation Efficiency

95% (76/80)

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: 82 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca1	A	G	4: 53,086,039 (GRCm39)	F488S	probably damaging	Het
Acap3	C	T	4: 155,983,881 (GRCm39)	R116W	probably damaging	Het
Adamts10	C	A	17: 33,764,364 (GRCm39)	P663T	possibly damaging	Het
Akap12	G	A	10: 4,303,333 (GRCm39)	G48S	probably damaging	Het
Ankrd7	T	A	6: 18,870,030 (GRCm39)	M261K	probably benign	Het
Ankzf1	C	A	1: 75,174,948 (GRCm39)	D599E	possibly damaging	Het
Aox1	T	C	1: 58,144,173 (GRCm39)	I1278T	possibly damaging	Het
Apcdd1	T	C	18: 63,083,150 (GRCm39)	Y327H	probably benign	Het
Asxl3	T	A	18: 22,544,553 (GRCm39)		probably benign	Het
Birc6	C	A	17: 74,969,827 (GRCm39)		probably benign	Het
Btaf1	T	A	19: 36,987,048 (GRCm39)	L1714*	probably null	Het
Cacng6	T	A	7: 3,473,520 (GRCm39)		probably benign	Het
Cdc20b	A	G	13: 113,215,146 (GRCm39)	D238G	probably damaging	Het
Celf5	T	A	10: 81,306,532 (GRCm39)	R113W	probably null	Het
Cfap251	T	C	5: 123,421,510 (GRCm39)	V182A	probably damaging	Het
Cfap70	C	A	14: 20,462,415 (GRCm39)	E659D	probably damaging	Het
Clspn	T	A	4: 126,484,391 (GRCm39)	M1183K	possibly damaging	Het
Dpy19l1	G	A	9: 24,365,187 (GRCm39)	R275C	probably damaging	Het
Dst	C	T	1: 34,226,016 (GRCm39)	S1721L	probably benign	Het
Faap100	T	C	11: 120,265,191 (GRCm39)	T562A	probably damaging	Het
Fam168b	T	C	1: 34,858,769 (GRCm39)	M133V	probably damaging	Het
Farp2	T	C	1: 93,496,809 (GRCm39)	I172T	probably damaging	Het
Fer	T	G	17: 64,203,273 (GRCm39)	S68A	probably damaging	Het
Fmo5	A	G	3: 97,552,997 (GRCm39)	E315G	probably damaging	Het
Gpr89	A	T	3: 96,778,796 (GRCm39)	F426I	probably damaging	Het
Hinfp	T	C	9: 44,207,624 (GRCm39)	I461V	possibly damaging	Het
Hsd11b1	A	T	1: 192,922,556 (GRCm39)	V167D	probably damaging	Het
Htt	A	G	5: 35,054,252 (GRCm39)	K2574E	probably benign	Het
I830077J02Rik	A	G	3: 105,833,821 (GRCm39)	S112P	probably benign	Het
Igf2bp3	T	A	6: 49,082,551 (GRCm39)	M344L	probably benign	Het
Itch	A	T	2: 155,044,177 (GRCm39)	Q494L	probably benign	Het
Jaml	T	A	9: 45,005,065 (GRCm39)	D152E	probably benign	Het
Kif22	A	C	7: 126,641,572 (GRCm39)	M1R	probably null	Het
Kifap3	T	C	1: 163,710,955 (GRCm39)	Y663H	probably benign	Het
Letm2	T	A	8: 26,068,786 (GRCm39)	N472I	probably damaging	Het
Mthfr	T	G	4: 148,136,681 (GRCm39)	V446G	probably damaging	Het
Myh11	T	C	16: 14,029,124 (GRCm39)	E1206G	possibly damaging	Het
Myo6	G	A	9: 80,195,338 (GRCm39)	V903I	probably damaging	Het
Myo9b	C	T	8: 71,807,869 (GRCm39)		probably benign	Het
Nr2f2	G	C	7: 70,009,923 (GRCm39)	P52R	probably damaging	Het
Nsd3	A	G	8: 26,173,273 (GRCm39)	N859S	probably benign	Het
Nucb2	C	A	7: 116,135,245 (GRCm39)	A384E	probably damaging	Het
Ogdhl	C	A	14: 32,063,994 (GRCm39)		probably null	Het
Or10al3	C	A	17: 38,011,949 (GRCm39)	C129*	probably null	Het
Or1e22	A	T	11: 73,377,401 (GRCm39)	L83Q	probably benign	Het
Or1i2	T	C	10: 78,447,705 (GRCm39)	T257A	probably benign	Het
Or4a74	G	A	2: 89,440,207 (GRCm39)	L80F	probably damaging	Het
Or5b105	G	A	19: 13,080,642 (GRCm39)	R3C	possibly damaging	Het
Parp10	C	T	15: 76,126,833 (GRCm39)	S145N	probably benign	Het
Pigh	A	G	12: 79,130,483 (GRCm39)		probably benign	Het
Pigo	A	G	4: 43,023,824 (GRCm39)		probably benign	Het
Pkp4	T	A	2: 59,135,832 (GRCm39)	V199D	possibly damaging	Het
Polr1e	C	A	4: 45,025,143 (GRCm39)		probably null	Het
Ppfia3	C	A	7: 44,997,958 (GRCm39)	R723L	probably damaging	Het
Prex1	C	A	2: 166,427,818 (GRCm39)	A945S	possibly damaging	Het
Prrt3	A	T	6: 113,472,801 (GRCm39)	V457E	probably damaging	Het
Rab39	A	G	9: 53,617,271 (GRCm39)	F49L	possibly damaging	Het
Rrs1	C	A	1: 9,615,987 (GRCm39)		probably null	Het
Rrs1	G	A	1: 9,615,992 (GRCm39)	E82K	probably damaging	Het
Serpinb3c	T	C	1: 107,204,722 (GRCm39)	D8G	probably benign	Het
Slc17a6	A	G	7: 51,295,928 (GRCm39)		probably benign	Het
Slc24a4	T	A	12: 102,195,210 (GRCm39)		probably null	Het
Smc1b	C	T	15: 85,007,960 (GRCm39)	M272I	probably benign	Het
Smc6	T	C	12: 11,333,179 (GRCm39)		probably benign	Het
Tcf20	T	C	15: 82,739,286 (GRCm39)	T722A	probably benign	Het
Tesmin	A	T	19: 3,454,088 (GRCm39)	M141L	probably benign	Het
Tmprss5	T	A	9: 49,024,460 (GRCm39)	H274Q	possibly damaging	Het
Tns1	C	T	1: 73,976,477 (GRCm39)		probably null	Het
Tpr	T	C	1: 150,293,178 (GRCm39)	S868P	possibly damaging	Het
Trank1	C	T	9: 111,195,321 (GRCm39)	T1115I	probably damaging	Het
Trmt44	A	T	5: 35,730,261 (GRCm39)	I203K	possibly damaging	Het
Ulk2	A	T	11: 61,668,611 (GRCm39)	V1037E	probably benign	Het
Usp43	A	G	11: 67,767,325 (GRCm39)	Y682H	probably damaging	Het
Vipr2	A	T	12: 116,106,502 (GRCm39)	Q366L	probably damaging	Het
Vmn1r185	C	A	7: 26,311,014 (GRCm39)	V164L	possibly damaging	Het
Vmn2r120	C	T	17: 57,832,052 (GRCm39)	V246I	probably benign	Het
Wiz	C	T	17: 32,576,007 (GRCm39)	G790R	probably damaging	Het
Wnk1	A	T	6: 119,929,694 (GRCm39)	S1016R	probably damaging	Het
Zc3hav1	A	G	6: 38,288,109 (GRCm39)	L909S	probably benign	Het
Zfp236	T	A	18: 82,658,352 (GRCm39)	I637F	probably damaging	Het
Zfp788	G	A	7: 41,299,020 (GRCm39)	G532D	probably damaging	Het
Zranb1	T	C	7: 132,552,114 (GRCm39)	I255T	probably 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
R0179:Itga9	UTSW	9	118,490,454 (GRCm39)	missense	probably benign	0.11
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'- TGGCAACAGAGACCCAGACAAATTG -3'
(R):5'- TGACCAGTAGGGCTCAAATGGCAC -3'

Sequencing Primer
(F):5'- TTGTACATGGCAGAATGAGTCCC -3'
(R):5'- gagagagagagagagagagagagag -3'

Posted On

2013-05-09