Mutagenetix > Incidental Mutation

Incidental Mutation 'R6543:Itga8'

520892

Institutional Source

Beutler Lab

Gene Symbol

Itga8

Ensembl Gene

ENSMUSG00000026768

Gene Name

integrin alpha 8

Synonyms

MMRRC Submission

044669-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.870) question?

Stock #

R6543 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

12111443-12306733 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 12306455 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Methionine at position 47 (V47M)

Ref Sequence

ENSEMBL: ENSMUSP00000028106 (fasta)

Gene Model

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

AlphaFold

A2ARA8

Predicted Effect

probably damaging
Transcript: ENSMUST00000028106
AA Change: V47M

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000028106
Gene: ENSMUSG00000026768
AA Change: V47M

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: ENSMUST00000130548

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000141477

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000148089

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000150037

Predicted Effect

probably damaging
Transcript: ENSMUST00000172791
AA Change: V47M

PolyPhen 2 Score 0.978 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000134154
Gene: ENSMUSG00000026768
AA Change: V47M

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: 100.0%
3x: 99.9%
10x: 99.3%
20x: 97.6%

Validation Efficiency

100% (41/41)

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: 42 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ap4e1	T	C	2: 126,908,525 (GRCm39)	V1091A	probably benign	Het
Arhgef11	A	G	3: 87,640,715 (GRCm39)	N1320D	probably benign	Het
Atl3	T	A	19: 7,487,463 (GRCm39)	F126Y	probably damaging	Het
Borcs5	C	T	6: 134,687,143 (GRCm39)	T167M	probably damaging	Het
Cplane2	T	G	4: 140,944,599 (GRCm39)	V50G	probably benign	Het
Creld2	A	G	15: 88,709,481 (GRCm39)	T331A	probably benign	Het
Cuzd1	A	G	7: 130,911,497 (GRCm39)	V494A	probably damaging	Het
Dclk1	C	T	3: 55,407,552 (GRCm39)	P244S	probably damaging	Het
Esyt3	T	C	9: 99,220,825 (GRCm39)	N126S	possibly damaging	Het
Focad	T	C	4: 88,197,493 (GRCm39)	S629P	unknown	Het
Grip1	T	C	10: 119,821,499 (GRCm39)	L389P	probably benign	Het
Igkv4-91	A	T	6: 68,745,582 (GRCm39)	D105E	probably damaging	Het
Il20ra	G	A	10: 19,625,071 (GRCm39)	A117T	probably damaging	Het
Il6ra	A	G	3: 89,784,170 (GRCm39)	V367A	probably damaging	Het
Limk2	T	C	11: 3,300,682 (GRCm39)	Y220C	probably damaging	Het
Lims1	T	A	10: 58,248,273 (GRCm39)	C243*	probably null	Het
Man1a	C	A	10: 53,811,077 (GRCm39)	G435*	probably null	Het
Msantd5f4	A	G	4: 73,557,215 (GRCm39)	E16G	probably damaging	Het
Mtor	T	A	4: 148,630,053 (GRCm39)	I2250N	probably damaging	Het
N4bp1	G	A	8: 87,588,534 (GRCm39)	Q135*	probably null	Het
Nbeal2	A	T	9: 110,473,526 (GRCm39)	D76E	probably benign	Het
Nbn	T	C	4: 15,986,605 (GRCm39)	S669P	probably benign	Het
Nfrkb	C	T	9: 31,312,281 (GRCm39)	Q456*	probably null	Het
Or6c3b	C	A	10: 129,527,859 (GRCm39)	G17V	probably benign	Het
Pcnx3	C	T	19: 5,715,275 (GRCm39)	A1557T	probably benign	Het
Pgd	C	T	4: 149,245,209 (GRCm39)		probably null	Het
Prokr2	T	A	2: 132,215,819 (GRCm39)	Q53L	probably benign	Het
Pxmp4	C	A	2: 154,429,979 (GRCm39)	A137S	possibly damaging	Het
Rasef	C	T	4: 73,698,756 (GRCm39)		probably benign	Het
Scpppq1	T	C	5: 104,222,741 (GRCm39)		probably benign	Het
Scrt2	C	T	2: 151,935,063 (GRCm39)	A72V	probably benign	Het
Sipa1l2	T	C	8: 126,177,101 (GRCm39)	E1171G	possibly damaging	Het
Slc26a8	T	C	17: 28,857,375 (GRCm39)	T923A	possibly damaging	Het
Slco1a6	T	C	6: 142,078,872 (GRCm39)	K141R	probably benign	Het
Slfn5	T	A	11: 82,849,492 (GRCm39)		probably null	Het
Sympk	A	T	7: 18,770,755 (GRCm39)	H282L	probably damaging	Het
Tnr	A	G	1: 159,751,677 (GRCm39)	Y1324C	probably damaging	Het
Topaz1	A	G	9: 122,577,600 (GRCm39)	N170S	possibly damaging	Het
Trav6-3	T	C	14: 53,666,219 (GRCm39)	M1T	probably null	Het
Trim66	A	G	7: 109,075,086 (GRCm39)	S392P	probably benign	Het
Ttn	T	C	2: 76,599,155 (GRCm39)	T10958A	probably damaging	Het
Ubr7	A	G	12: 102,734,494 (GRCm39)	K256R	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
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
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'- AAATATCAGACATCCTTTCCTCCTG -3'
(R):5'- AGAGGACTGTCACTGTGGAC -3'

Sequencing Primer
(F):5'- TTTCCTCCTGGCTGCGGAG -3'
(R):5'- TGTCACTGTGGACGCTCCTAG -3'

Posted On

2018-06-06