Mutagenetix > Incidental Mutation

Incidental Mutation 'R3730:Itga8'

270910

Institutional Source

Beutler Lab

Gene Symbol

Itga8

Ensembl Gene

ENSMUSG00000026768

Gene Name

integrin alpha 8

Synonyms

Accession Numbers

Essential gene?

Probably essential (E-score: 0.883) question?

Stock #

R3730 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

12111443-12306733 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 12198321 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 555 (T555A)

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: T555A

PolyPhen 2 Score 0.801 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000028106
Gene: ENSMUSG00000026768
AA Change: T555A

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: T555A

PolyPhen 2 Score 0.920 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000134154
Gene: ENSMUSG00000026768
AA Change: T555A

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: 99.0%
3x: 98.3%
10x: 96.2%
20x: 90.5%

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: 47 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A830018L16Rik	A	G	1: 11,615,450 (GRCm39)	N141S	probably damaging	Het
Acbd6	T	A	1: 155,434,471 (GRCm39)	S30T	probably benign	Het
Acot12	T	A	13: 91,908,145 (GRCm39)	F109Y	possibly damaging	Het
Adamts19	G	A	18: 59,033,982 (GRCm39)	R319Q	probably damaging	Het
Akap1	T	C	11: 88,736,008 (GRCm39)	E218G	possibly damaging	Het
Atg4b	T	A	1: 93,695,997 (GRCm39)	D45E	probably damaging	Het
Atoh1	A	G	6: 64,706,557 (GRCm39)	E84G	probably benign	Het
Cemip2	A	G	19: 21,803,481 (GRCm39)	Y838C	probably damaging	Het
Cfap251	A	T	5: 123,464,631 (GRCm39)	I1280L	possibly damaging	Het
Cfap54	A	T	10: 92,847,335 (GRCm39)	Y951*	probably null	Het
Col4a4	T	A	1: 82,433,472 (GRCm39)		probably null	Het
Crlf1	A	G	8: 70,952,092 (GRCm39)	T95A	probably benign	Het
Cyp3a25	G	A	5: 145,939,891 (GRCm39)	P39S	probably damaging	Het
Dhx9	C	A	1: 153,353,866 (GRCm39)	A186S	probably benign	Het
Dusp16	A	G	6: 134,695,824 (GRCm39)	S336P	probably benign	Het
Fcgbp	T	C	7: 27,784,882 (GRCm39)	V314A	possibly damaging	Het
Focad	T	C	4: 88,327,162 (GRCm39)	I157T	possibly damaging	Het
Frem3	A	T	8: 81,342,545 (GRCm39)	T1613S	probably damaging	Het
Fshr	C	T	17: 89,309,143 (GRCm39)	V222I	probably benign	Het
Galnt13	A	G	2: 54,823,519 (GRCm39)	N365S	possibly damaging	Het
Hjurp	GT	GTT	1: 88,194,246 (GRCm39)		probably null	Het
Ice1	A	T	13: 70,751,359 (GRCm39)	S1576T	probably damaging	Het
Ighv1-19	C	A	12: 114,672,497 (GRCm39)	C40F	probably damaging	Het
Kctd5	T	C	17: 24,278,212 (GRCm39)	D146G	probably benign	Het
Ktn1	A	G	14: 47,938,606 (GRCm39)	E766G	probably damaging	Het
Ldlr	C	G	9: 21,643,097 (GRCm39)	A41G	probably benign	Het
Lrp2	G	A	2: 69,294,923 (GRCm39)	P3465L	probably damaging	Het
Lrp2	A	T	2: 69,365,251 (GRCm39)		probably null	Het
Mapk11	G	A	15: 89,029,318 (GRCm39)	A248V	probably benign	Het
Mroh2a	GCCC	GC	1: 88,159,979 (GRCm39)		probably null	Het
Mslnl	G	A	17: 25,961,908 (GRCm39)	V128M	probably damaging	Het
Npr2	T	C	4: 43,640,999 (GRCm39)	S402P	possibly damaging	Het
Olfm2	T	C	9: 20,584,063 (GRCm39)	N76D	probably damaging	Het
Or7g33	T	A	9: 19,448,447 (GRCm39)	I260F	probably benign	Het
Or8k3	A	G	2: 86,059,195 (GRCm39)	I40T	probably benign	Het
Pias4	A	T	10: 80,999,888 (GRCm39)	F55Y	probably damaging	Het
Rgs12	G	A	5: 35,189,595 (GRCm39)	E658K	probably damaging	Het
Ripor3	C	G	2: 167,834,739 (GRCm39)	E251Q	probably damaging	Het
Shroom3	G	T	5: 93,090,945 (GRCm39)	V1151F	probably damaging	Het
Slc16a10	G	C	10: 39,932,620 (GRCm39)	H314D	possibly damaging	Het
Slc35e4	A	G	11: 3,862,577 (GRCm39)	V204A	possibly damaging	Het
Syt4	T	C	18: 31,577,189 (GRCm39)	H55R	probably damaging	Het
Trim46	T	A	3: 89,142,256 (GRCm39)	T721S	probably benign	Het
Usf3	G	T	16: 44,038,938 (GRCm39)	L1139F	probably benign	Het
Xrn2	A	T	2: 146,866,729 (GRCm39)	M100L	probably benign	Het
Zbtb33	C	A	X: 37,281,822 (GRCm39)	N243K	probably benign	Het
Zfp960	T	A	17: 17,308,633 (GRCm39)	L449H	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
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
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'- AGTCTCCTCCCGGAAAAGTG -3'
(R):5'- TCACCATCCTGAAGTGAGCC -3'

Sequencing Primer
(F):5'- TCCATGGCAAGCATGATGGTTAAC -3'
(R):5'- CCCAGCATGGTTTTGTG -3'

Posted On

2015-03-18