Mutagenetix > Incidental Mutation

Incidental Mutation 'R0881:Itga8'

80498

Institutional Source

Beutler Lab

Gene Symbol

Itga8

Ensembl Gene

ENSMUSG00000026768

Gene Name

integrin alpha 8

Synonyms

MMRRC Submission

039048-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.870) question?

Stock #

R0881 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

12111443-12306733 bp(-) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

C to T at 12267003 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000028106 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000028106] [ENSMUST00000172791]

AlphaFold

A2ARA8

Predicted Effect

probably null
Transcript: ENSMUST00000028106

SMART Domains

Protein: ENSMUSP00000028106
Gene: ENSMUSG00000026768

Domain	Start	End	E-Value	Type
signal peptide	1	37	N/A	INTRINSIC
Int_alpha	52	112	8.48e-8	SMART
Int_alpha	197	244	4.8e1	SMART
Int_alpha	262	312	5.91e-7	SMART
Int_alpha	316	377	6.94e-13	SMART
Int_alpha	381	437	1.92e-15	SMART
Int_alpha	445	494	8.23e-6	SMART
SCOP:d1m1xa2	643	780	2e-46	SMART
SCOP:d1m1xa3	784	1000	2e-80	SMART
transmembrane domain	1011	1033	N/A	INTRINSIC
Pfam:Integrin_alpha	1034	1048	2.5e-7	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000141477

Predicted Effect

probably benign
Transcript: ENSMUST00000172791

SMART Domains

Protein: ENSMUSP00000134154
Gene: ENSMUSG00000026768

Domain	Start	End	E-Value	Type
signal peptide	1	37	N/A	INTRINSIC
Int_alpha	52	112	8.48e-8	SMART
Int_alpha	197	244	4.8e1	SMART
Int_alpha	262	312	5.91e-7	SMART
Int_alpha	316	377	6.94e-13	SMART
Int_alpha	381	437	1.92e-15	SMART
Int_alpha	445	494	8.23e-6	SMART

Meta Mutation Damage Score

0.9755

Coding Region Coverage

1x: 99.6%
3x: 98.9%
10x: 97.0%
20x: 93.0%

Validation Efficiency

96% (51/53)

MGI Phenotype

FUNCTION: This gene encodes a member of the integrin family of cell surface proteins that mediate cellular interactions with the extracellular matrix and other cells. The encoded protein undergoes proteolytic processing to generate the disulfide-linked heterodimeric alpha subunit which, in turn associates with a beta subunit to form the functional integrin receptor. Mice lacking the encoded protein mostly die after birth due to kidney defects, but some of animals that survive exhibit defects in the sensory hair cells of the inner ear. [provided by RefSeq, Aug 2016]
PHENOTYPE: Mice homozygous for disruptions in this gene usually die by the end of the second day after birth. Those that do survive have reduced kidneys and abnormal steriocilia in the inner ear. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aasdh	G	A	5: 77,024,130 (GRCm39)	T174M	probably damaging	Het
Abcc9	T	A	6: 142,592,029 (GRCm39)	I732F	probably damaging	Het
Adam10	T	C	9: 70,653,519 (GRCm39)	S248P	probably damaging	Het
Adam18	A	T	8: 25,162,159 (GRCm39)		probably benign	Het
Angel2	G	A	1: 190,669,661 (GRCm39)	E114K	probably damaging	Het
Arhgap29	A	G	3: 121,808,328 (GRCm39)	T1169A	probably damaging	Het
Atp13a2	T	A	4: 140,731,242 (GRCm39)	M759K	probably damaging	Het
Atxn2l	A	G	7: 126,095,768 (GRCm39)	S450P	probably damaging	Het
B3glct	T	A	5: 149,663,034 (GRCm39)	V264E	probably damaging	Het
Bbx	A	G	16: 50,040,963 (GRCm39)		probably benign	Het
Bmp3	A	G	5: 99,020,461 (GRCm39)	N295D	possibly damaging	Het
C9	G	A	15: 6,488,349 (GRCm39)		probably benign	Het
Cacna1c	C	T	6: 118,589,586 (GRCm39)	R1446H	probably damaging	Het
Cdan1	A	T	2: 120,551,466 (GRCm39)	V1039E	probably damaging	Het
Dennd4a	T	C	9: 64,758,665 (GRCm39)		probably null	Het
Ext1	A	G	15: 53,207,879 (GRCm39)	L294P	probably benign	Het
Fsip2	C	A	2: 82,816,617 (GRCm39)	H4117N	possibly damaging	Het
Itln1	G	T	1: 171,360,949 (GRCm39)	H48N	probably benign	Het
Kcna5	T	A	6: 126,511,957 (GRCm39)	H57L	probably benign	Het
Klhdc4	A	T	8: 122,526,226 (GRCm39)	Y304*	probably null	Het
Klhl25	A	G	7: 75,516,027 (GRCm39)	Y6C	probably damaging	Het
Lars1	C	T	18: 42,347,851 (GRCm39)	V991M	probably benign	Het
Med20	T	C	17: 47,922,605 (GRCm39)	M1T	probably null	Het
Mslnl	A	T	17: 25,961,939 (GRCm39)	H138L	possibly damaging	Het
Mycbp2	T	C	14: 103,457,449 (GRCm39)	I1583V	probably benign	Het
Nipbl	A	C	15: 8,337,096 (GRCm39)	V2093G	probably damaging	Het
Nup98	T	A	7: 101,809,923 (GRCm39)	T536S	probably damaging	Het
Opalin	T	C	19: 41,052,420 (GRCm39)		probably null	Het
Or1j12	T	G	2: 36,343,452 (GRCm39)	L285R	probably damaging	Het
Or51d1	T	A	7: 102,348,291 (GRCm39)	V282D	possibly damaging	Het
Or8g26	A	G	9: 39,095,984 (GRCm39)	K170R	probably benign	Het
Pgm2	A	T	5: 64,250,351 (GRCm39)	T9S	unknown	Het
Piwil2	A	C	14: 70,646,376 (GRCm39)	S387A	probably benign	Het
Polr1c	T	C	17: 46,555,539 (GRCm39)	T240A	possibly damaging	Het
Polr3c	A	G	3: 96,631,163 (GRCm39)	M118T	probably damaging	Het
Pth1r	C	T	9: 110,560,641 (GRCm39)	C42Y	probably damaging	Het
Ptpro	T	A	6: 137,420,592 (GRCm39)	V1007D	probably damaging	Het
Rictor	A	T	15: 6,821,151 (GRCm39)	M1492L	probably benign	Het
Rrbp1	T	A	2: 143,795,173 (GRCm39)	Y1277F	probably benign	Het
Scgb3a2	T	G	18: 43,897,549 (GRCm39)		probably benign	Het
Skint1	G	A	4: 111,886,054 (GRCm39)	S327N	probably benign	Het
Steap4	A	T	5: 8,030,388 (GRCm39)	S415C	probably benign	Het
Tex48	A	G	4: 63,530,228 (GRCm39)		probably benign	Het
Tox2	T	A	2: 163,163,365 (GRCm39)	S502T	probably benign	Het
Usp47	T	A	7: 111,690,643 (GRCm39)	I762K	possibly damaging	Het
Vmn2r53	T	C	7: 12,334,859 (GRCm39)	H267R	probably benign	Het
Wnt2b	A	G	3: 104,860,513 (GRCm39)		probably benign	Het
Xirp1	T	C	9: 119,847,483 (GRCm39)	N28D	possibly damaging	Het
Zeb1	T	C	18: 5,767,138 (GRCm39)	S550P	probably benign	Het

Other mutations in Itga8

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00806:Itga8	APN	2	12,260,777 (GRCm39)	nonsense	probably null
IGL00820:Itga8	APN	2	12,237,703 (GRCm39)	missense	possibly damaging	0.85
IGL01409:Itga8	APN	2	12,196,525 (GRCm39)	missense	probably benign
IGL01508:Itga8	APN	2	12,237,613 (GRCm39)	missense	possibly damaging	0.67
IGL01585:Itga8	APN	2	12,165,123 (GRCm39)	splice site	probably benign
IGL01590:Itga8	APN	2	12,165,144 (GRCm39)	missense	probably damaging	1.00
IGL01743:Itga8	APN	2	12,270,144 (GRCm39)	missense	probably benign	0.04
IGL02634:Itga8	APN	2	12,145,289 (GRCm39)	missense	possibly damaging	0.55
IGL02805:Itga8	APN	2	12,194,291 (GRCm39)	missense	possibly damaging	0.83
IGL03200:Itga8	APN	2	12,196,010 (GRCm39)	missense	probably benign	0.00
IGL03218:Itga8	APN	2	12,115,836 (GRCm39)	missense	possibly damaging	0.77
IGL03248:Itga8	APN	2	12,137,327 (GRCm39)	missense	probably benign	0.20
PIT4576001:Itga8	UTSW	2	12,234,903 (GRCm39)	missense	probably benign	0.19
R0196:Itga8	UTSW	2	12,209,540 (GRCm39)	critical splice donor site	probably null
R0356:Itga8	UTSW	2	12,187,532 (GRCm39)	missense	possibly damaging	0.73
R0466:Itga8	UTSW	2	12,237,697 (GRCm39)	missense	probably damaging	1.00
R0530:Itga8	UTSW	2	12,196,627 (GRCm39)	missense	probably damaging	0.99
R0715:Itga8	UTSW	2	12,196,053 (GRCm39)	splice site	probably benign
R0800:Itga8	UTSW	2	12,198,362 (GRCm39)	missense	possibly damaging	0.95
R1675:Itga8	UTSW	2	12,204,974 (GRCm39)	missense	probably damaging	0.99
R1758:Itga8	UTSW	2	12,270,144 (GRCm39)	missense	possibly damaging	0.83
R1939:Itga8	UTSW	2	12,305,657 (GRCm39)	missense	probably damaging	1.00
R2187:Itga8	UTSW	2	12,199,231 (GRCm39)	missense	possibly damaging	0.60
R2295:Itga8	UTSW	2	12,187,520 (GRCm39)	missense	probably benign	0.38
R2356:Itga8	UTSW	2	12,204,952 (GRCm39)	missense	probably benign
R2371:Itga8	UTSW	2	12,258,277 (GRCm39)	missense	probably damaging	1.00
R2412:Itga8	UTSW	2	12,306,526 (GRCm39)	missense	probably benign
R2440:Itga8	UTSW	2	12,183,491 (GRCm39)	missense	possibly damaging	0.70
R2848:Itga8	UTSW	2	12,165,215 (GRCm39)	missense	probably damaging	0.98
R3730:Itga8	UTSW	2	12,198,321 (GRCm39)	missense	possibly damaging	0.92
R3933:Itga8	UTSW	2	12,194,330 (GRCm39)	missense	probably benign
R3982:Itga8	UTSW	2	12,305,774 (GRCm39)	missense	possibly damaging	0.92
R4513:Itga8	UTSW	2	12,187,547 (GRCm39)	missense	probably benign	0.01
R4514:Itga8	UTSW	2	12,187,547 (GRCm39)	missense	probably benign	0.01
R4660:Itga8	UTSW	2	12,270,069 (GRCm39)	missense	probably damaging	1.00
R4890:Itga8	UTSW	2	12,198,102 (GRCm39)	splice site	probably benign
R5533:Itga8	UTSW	2	12,165,161 (GRCm39)	missense	possibly damaging	0.90
R5619:Itga8	UTSW	2	12,270,139 (GRCm39)	missense	probably damaging	1.00
R5720:Itga8	UTSW	2	12,115,898 (GRCm39)	missense	probably damaging	0.99
R5749:Itga8	UTSW	2	12,266,889 (GRCm39)	missense	probably damaging	1.00
R5930:Itga8	UTSW	2	12,235,019 (GRCm39)	missense	possibly damaging	0.84
R5954:Itga8	UTSW	2	12,137,297 (GRCm39)	missense	probably damaging	0.99
R6035:Itga8	UTSW	2	12,196,525 (GRCm39)	missense	probably benign
R6035:Itga8	UTSW	2	12,196,525 (GRCm39)	missense	probably benign
R6211:Itga8	UTSW	2	12,198,320 (GRCm39)	missense	probably damaging	1.00
R6337:Itga8	UTSW	2	12,258,280 (GRCm39)	nonsense	probably null
R6442:Itga8	UTSW	2	12,234,954 (GRCm39)	missense	probably benign	0.00
R6491:Itga8	UTSW	2	12,209,587 (GRCm39)	missense	probably damaging	1.00
R6543:Itga8	UTSW	2	12,306,455 (GRCm39)	missense	probably damaging	0.99
R6574:Itga8	UTSW	2	12,234,972 (GRCm39)	missense	probably benign	0.17
R6760:Itga8	UTSW	2	12,306,451 (GRCm39)	missense	probably damaging	1.00
R6858:Itga8	UTSW	2	12,204,892 (GRCm39)	missense	probably benign	0.00
R6943:Itga8	UTSW	2	12,160,182 (GRCm39)	critical splice donor site	probably null
R7048:Itga8	UTSW	2	12,115,895 (GRCm39)	missense	probably damaging	0.99
R7203:Itga8	UTSW	2	12,234,906 (GRCm39)	missense	possibly damaging	0.77
R7266:Itga8	UTSW	2	12,237,712 (GRCm39)	missense	probably damaging	1.00
R7323:Itga8	UTSW	2	12,266,940 (GRCm39)	missense	probably damaging	1.00
R7540:Itga8	UTSW	2	12,115,848 (GRCm39)	missense	possibly damaging	0.82
R7637:Itga8	UTSW	2	12,113,998 (GRCm39)	missense	probably damaging	1.00
R7748:Itga8	UTSW	2	12,235,050 (GRCm39)	missense	possibly damaging	0.80
R7848:Itga8	UTSW	2	12,196,548 (GRCm39)	missense	probably damaging	0.99
R8031:Itga8	UTSW	2	12,160,297 (GRCm39)	missense	probably benign
R8077:Itga8	UTSW	2	12,247,244 (GRCm39)	missense	probably benign	0.09
R8757:Itga8	UTSW	2	12,266,940 (GRCm39)	missense	probably damaging	1.00
R8759:Itga8	UTSW	2	12,266,940 (GRCm39)	missense	probably damaging	1.00
R8772:Itga8	UTSW	2	12,187,495 (GRCm39)	missense	probably damaging	1.00
R8773:Itga8	UTSW	2	12,187,495 (GRCm39)	missense	probably damaging	1.00
R8774:Itga8	UTSW	2	12,187,495 (GRCm39)	missense	probably damaging	1.00
R8774-TAIL:Itga8	UTSW	2	12,187,495 (GRCm39)	missense	probably damaging	1.00
R8775:Itga8	UTSW	2	12,187,495 (GRCm39)	missense	probably damaging	1.00
R8775-TAIL:Itga8	UTSW	2	12,187,495 (GRCm39)	missense	probably damaging	1.00
R8808:Itga8	UTSW	2	12,137,328 (GRCm39)	nonsense	probably null
R8898:Itga8	UTSW	2	12,145,206 (GRCm39)	missense	probably benign	0.05
R8962:Itga8	UTSW	2	12,196,045 (GRCm39)	missense	possibly damaging	0.94
R9056:Itga8	UTSW	2	12,235,019 (GRCm39)	missense	possibly damaging	0.84
R9155:Itga8	UTSW	2	12,194,330 (GRCm39)	missense	probably benign
R9354:Itga8	UTSW	2	12,237,668 (GRCm39)	missense	possibly damaging	0.94
R9563:Itga8	UTSW	2	12,165,219 (GRCm39)	missense	possibly damaging	0.83
R9589:Itga8	UTSW	2	12,237,701 (GRCm39)	missense	probably damaging	1.00
R9663:Itga8	UTSW	2	12,196,580 (GRCm39)	missense	probably benign	0.00
Z1176:Itga8	UTSW	2	12,306,643 (GRCm39)	start gained	probably benign
Z1176:Itga8	UTSW	2	12,266,947 (GRCm39)	missense	probably benign	0.01
Z1176:Itga8	UTSW	2	12,252,329 (GRCm39)	missense	probably damaging	1.00
Z1177:Itga8	UTSW	2	12,305,744 (GRCm39)	missense	possibly damaging	0.89

Predicted Primers

PCR Primer
(F):5'- TGGCTATCTTCTGTCACAGCTCTCA -3'
(R):5'- ATGCACTGCTTGAATGTTATTTGCTGTT -3'

Sequencing Primer
(F):5'- ctccccaacccacccac -3'
(R):5'- aaaaattaGCTTTGGAAGTTTGTCTC -3'

Posted On

2013-11-07