Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03200:Itga8'

412947

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Itga8

Ensembl Gene

ENSMUSG00000026768

Gene Name

integrin alpha 8

Synonyms

Accession Numbers

Essential gene?

Probably essential (E-score: 0.870) question?

Stock #

IGL03200

Quality Score

Status

Chromosome

Chromosomal Location

12111443-12306733 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 12196010 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Isoleucine at position 647 (V647I)

Ref Sequence

ENSEMBL: ENSMUSP00000028106 (fasta)

Gene Model

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

AlphaFold

A2ARA8

Predicted Effect

probably benign
Transcript: ENSMUST00000028106
AA Change: V647I

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000028106
Gene: ENSMUSG00000026768
AA Change: V647I

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: ENSMUST00000129370

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

Coding Region Coverage

Validation Efficiency

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: 17 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb5	A	G	12: 118,928,989 (GRCm39)		probably benign	Het
Degs1	A	T	1: 182,107,256 (GRCm39)	M1K	probably null	Het
Eif3e	A	T	15: 43,115,657 (GRCm39)	W370R	probably damaging	Het
H2-M10.6	G	A	17: 37,124,908 (GRCm39)	G275E	probably damaging	Het
Kcnip2	T	G	19: 45,782,502 (GRCm39)	K190Q	probably damaging	Het
Mbd1	T	G	18: 74,409,502 (GRCm39)	S251A	probably benign	Het
Mcpt9	T	A	14: 56,264,390 (GRCm39)	H235L	probably benign	Het
Ndst1	A	T	18: 60,832,611 (GRCm39)	I573N	possibly damaging	Het
Ntan1	C	T	16: 13,652,591 (GRCm39)	P229L	probably damaging	Het
Rbl2	T	C	8: 91,823,395 (GRCm39)	I441T	probably benign	Het
Spmap2l	T	A	5: 77,208,711 (GRCm39)	V413D	possibly damaging	Het
Sulf1	C	T	1: 12,856,841 (GRCm39)	R31*	probably null	Het
Taok1	G	A	11: 77,466,478 (GRCm39)	Q124*	probably null	Het
Tmem140	A	G	6: 34,849,814 (GRCm39)	E110G	possibly damaging	Het
U2surp	G	A	9: 95,373,444 (GRCm39)	R242*	probably null	Het
Ywhag	G	A	5: 135,939,914 (GRCm39)	R227*	probably null	Het
Zfp456	C	T	13: 67,514,596 (GRCm39)	R370H	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
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
R0881:Itga8	UTSW	2	12,267,003 (GRCm39)	splice site	probably null
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

Posted On

2016-08-02