Mutagenetix > Incidental Mutation

Incidental Mutation 'R2371:Itga8'

247518

Institutional Source

Beutler Lab

Gene Symbol

Itga8

Ensembl Gene

ENSMUSG00000026768

Gene Name

integrin alpha 8

Synonyms

MMRRC Submission

040351-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.870) question?

Stock #

R2371 (G1)

Quality Score

133

Status

Not validated

Chromosome

Chromosomal Location

12111443-12306733 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 12258277 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 262 (D262E)

Ref Sequence

ENSEMBL: ENSMUSP00000134154 (fasta)

Gene Model

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

AlphaFold

A2ARA8

Predicted Effect

probably damaging
Transcript: ENSMUST00000028106
AA Change: D262E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000028106
Gene: ENSMUSG00000026768
AA Change: D262E

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 damaging
Transcript: ENSMUST00000172791
AA Change: D262E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000134154
Gene: ENSMUSG00000026768
AA Change: D262E

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

1x: 99.1%
3x: 98.4%
10x: 96.7%
20x: 93.0%

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: 26 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A2ml1	C	T	6: 128,557,349 (GRCm39)	A115T	probably benign	Het
Adamts18	T	A	8: 114,431,893 (GRCm39)	E1105V	probably benign	Het
Colec10	A	G	15: 54,325,796 (GRCm39)	I209V	possibly damaging	Het
Cttnbp2	T	G	6: 18,380,603 (GRCm39)	S1422R	possibly damaging	Het
Dcst1	C	G	3: 89,265,949 (GRCm39)	V179L	possibly damaging	Het
Fbxw9	T	C	8: 85,788,658 (GRCm39)	Y165H	probably benign	Het
Fgl2	A	T	5: 21,580,816 (GRCm39)	Y386F	probably damaging	Het
Gabrb2	A	G	11: 42,482,691 (GRCm39)	Y183C	probably damaging	Het
Hlcs	A	G	16: 94,068,926 (GRCm39)	L245P	probably damaging	Het
Hormad1	T	A	3: 95,482,910 (GRCm39)	I132K	probably benign	Het
Jhy	G	A	9: 40,828,778 (GRCm39)	T376I	probably benign	Het
Kidins220	T	C	12: 25,107,323 (GRCm39)	L1592P	probably damaging	Het
Kif3b	T	C	2: 153,164,743 (GRCm39)	I587T	possibly damaging	Het
Lrrc7	A	G	3: 157,866,697 (GRCm39)	Y1015H	probably damaging	Het
Lvrn	T	G	18: 47,011,230 (GRCm39)		probably null	Het
Mapkbp1	C	A	2: 119,841,261 (GRCm39)	Q83K	probably damaging	Het
Or2g25	T	C	17: 37,971,044 (GRCm39)	Y60C	probably damaging	Het
Or5b12	A	T	19: 12,897,031 (GRCm39)	I214N	probably benign	Het
Pigc	T	C	1: 161,798,579 (GRCm39)	V187A	possibly damaging	Het
Ros1	A	T	10: 52,039,991 (GRCm39)	H333Q	possibly damaging	Het
Rreb1	T	C	13: 38,100,513 (GRCm39)	F215L	probably benign	Het
Rtcb	C	T	10: 85,779,697 (GRCm39)	M324I	probably benign	Het
Senp2	A	G	16: 21,837,125 (GRCm39)	I125V	possibly damaging	Het
Shroom3	A	G	5: 92,928,729 (GRCm39)	K95E	probably damaging	Het
Wrnip1	C	T	13: 32,986,410 (GRCm39)	P64S	probably benign	Het
Zbtb24	C	T	10: 41,327,264 (GRCm39)	A50V	probably damaging	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
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
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'- AGAATGTCAGTGAGCCTACAG -3'
(R):5'- TTGCTGAGCAAGAGCCTGAC -3'

Sequencing Primer
(F):5'- GTCAGTGAGCCTACAGAATATTAGC -3'
(R):5'- TGAGCAAGAGCCTGACCCTTG -3'

Posted On

2014-11-11