Mutagenetix > Incidental Mutation

Incidental Mutation 'R0800:Itga8'

76216

Institutional Source

Beutler Lab

Gene Symbol

Itga8

Ensembl Gene

ENSMUSG00000026768

Gene Name

integrin alpha 8

Synonyms

MMRRC Submission

038980-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.870) question?

Stock #

R0800 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

12111443-12306733 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 12198362 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Glutamic Acid at position 541 (V541E)

Ref Sequence

ENSEMBL: ENSMUSP00000134154 (fasta)

Gene Model

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

AlphaFold

A2ARA8

Predicted Effect

possibly damaging
Transcript: ENSMUST00000028106
AA Change: V541E

PolyPhen 2 Score 0.907 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000028106
Gene: ENSMUSG00000026768
AA Change: V541E

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

possibly damaging
Transcript: ENSMUST00000172791
AA Change: V541E

PolyPhen 2 Score 0.954 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000134154
Gene: ENSMUSG00000026768
AA Change: V541E

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

0.3755

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.1%
20x: 93.7%

Validation Efficiency

98% (52/53)

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: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
B230217C12Rik	T	C	11: 97,732,086 (GRCm39)		probably benign	Het
Cacna1g	T	C	11: 94,317,265 (GRCm39)	D1498G	probably damaging	Het
Ces3b	T	A	8: 105,811,901 (GRCm39)	D103E	possibly damaging	Het
Chd5	A	G	4: 152,440,614 (GRCm39)	Y158C	probably damaging	Het
Cic	A	G	7: 24,984,662 (GRCm39)	T1033A	probably benign	Het
Cst13	A	T	2: 148,672,247 (GRCm39)	I141F	possibly damaging	Het
Dnah7a	A	G	1: 53,604,855 (GRCm39)	L1301P	probably damaging	Het
Dnah8	T	A	17: 30,923,636 (GRCm39)	F1201L	probably benign	Het
Dok7	T	C	5: 35,232,633 (GRCm39)		probably benign	Het
Dzip3	A	G	16: 48,774,171 (GRCm39)		probably benign	Het
Eml6	A	G	11: 29,699,877 (GRCm39)	V1753A	probably benign	Het
Fer1l4	A	G	2: 155,887,583 (GRCm39)	F538L	possibly damaging	Het
Fmo2	C	T	1: 162,704,383 (GRCm39)	D508N	probably benign	Het
Gabpb1	A	T	2: 126,472,248 (GRCm39)	Y351N	probably damaging	Het
Gnaq	T	A	19: 16,312,428 (GRCm39)	V230E	probably damaging	Het
Gprc5c	A	C	11: 114,757,537 (GRCm39)	K48Q	probably damaging	Het
Gzmd	A	G	14: 56,369,948 (GRCm39)	L11P	unknown	Het
Hbq1b	A	C	11: 32,237,581 (GRCm39)	H123P	probably damaging	Het
Hibadh	T	A	6: 52,533,490 (GRCm39)	I209F	probably damaging	Het
Il17f	G	T	1: 20,848,177 (GRCm39)	C100*	probably null	Het
Iqca1	C	A	1: 90,070,453 (GRCm39)	G133V	probably null	Het
Kifc5b	T	A	17: 27,142,158 (GRCm39)	V212D	probably benign	Het
Klra2	A	T	6: 131,207,137 (GRCm39)	Y157*	probably null	Het
Kprp	T	C	3: 92,732,342 (GRCm39)	Y236C	unknown	Het
Mmp12	A	T	9: 7,357,827 (GRCm39)	M414L	possibly damaging	Het
Myh6	A	G	14: 55,190,735 (GRCm39)		probably benign	Het
Nlgn2	A	G	11: 69,716,823 (GRCm39)	F573L	possibly damaging	Het
Or10j7	C	T	1: 173,011,627 (GRCm39)	A125T	probably damaging	Het
Or4c124	A	G	2: 89,156,008 (GRCm39)	V172A	probably benign	Het
Pakap	T	A	4: 57,709,650 (GRCm39)	D198E	probably benign	Het
Papss1	T	A	3: 131,305,615 (GRCm39)		probably benign	Het
Parp4	A	G	14: 56,827,408 (GRCm39)	T181A	probably benign	Het
Piwil2	A	T	14: 70,646,486 (GRCm39)		probably benign	Het
Pla2g12b	A	G	10: 59,239,642 (GRCm39)	N17S	probably benign	Het
Polr3c	C	A	3: 96,626,627 (GRCm39)	V266L	probably damaging	Het
Pou3f3	A	G	1: 42,737,527 (GRCm39)	T408A	probably damaging	Het
Pskh1	A	G	8: 106,640,238 (GRCm39)	Y306C	probably damaging	Het
Rom1	T	A	19: 8,906,272 (GRCm39)	D89V	probably damaging	Het
Sell	T	A	1: 163,893,770 (GRCm39)		probably null	Het
Sox6	A	G	7: 115,178,249 (GRCm39)		probably null	Het
Speg	T	C	1: 75,400,133 (GRCm39)	S2527P	probably damaging	Het
Stat3	A	G	11: 100,784,981 (GRCm39)		probably benign	Het
Stra6l	A	G	4: 45,882,797 (GRCm39)	T503A	probably benign	Het
Tapbp	A	G	17: 34,145,227 (GRCm39)	T375A	probably benign	Het
Tgm6	G	A	2: 129,985,342 (GRCm39)	V382M	possibly damaging	Het
Trappc9	A	T	15: 72,824,981 (GRCm39)		probably benign	Het
Txlnb	A	G	10: 17,675,240 (GRCm39)	N131S	possibly damaging	Het
Usp19	A	G	9: 108,372,353 (GRCm39)	E469G	probably damaging	Het
Vmn2r17	T	A	5: 109,575,192 (GRCm39)		probably benign	Het
Zfp750	T	C	11: 121,402,838 (GRCm39)	T637A	probably benign	Het
Zhx2	A	C	15: 57,686,124 (GRCm39)	I498L	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
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

Predicted Primers

PCR Primer
(F):5'- TTCCAGAAAACTTACCCGAAGGTAAACC -3'
(R):5'- CCCATGACATATCTCTCTGCACAGACAA -3'

Sequencing Primer
(F):5'- GTAAACCATAAAATCCTGGCAGTG -3'
(R):5'- CCCAGCATGGTTTTGTGTACT -3'

Posted On

2013-10-16