Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03248:Itga8'

414476

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: 0.883) question?

Stock #

IGL03248

Quality Score

Status

Chromosome

Chromosomal Location

12111443-12306733 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 12137327 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Serine at position 13 (A13S)

Ref Sequence

ENSEMBL: ENSMUSP00000134238 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000028106] [ENSMUST00000148055] [ENSMUST00000172791]

AlphaFold

A2ARA8

Predicted Effect

probably benign
Transcript: ENSMUST00000028106
AA Change: A934S

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

SMART Domains

Protein: ENSMUSP00000028106
Gene: ENSMUSG00000026768
AA Change: A934S

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

probably benign
Transcript: ENSMUST00000148055
AA Change: A13S

PolyPhen 2 Score 0.198 (Sensitivity: 0.92; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000134238
Gene: ENSMUSG00000026768
AA Change: A13S

Domain	Start	End	E-Value	Type
SCOP:d1m1xa3	1	79	7e-32	SMART
PDB:3IJE\|A	2	89	9e-15	PDB
transmembrane domain	90	112	N/A	INTRINSIC

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000192947

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: 42 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abhd5	T	C	9: 122,197,290 (GRCm39)	F116S	probably damaging	Het
Accsl	A	G	2: 93,693,129 (GRCm39)		probably benign	Het
Adgrl2	T	A	3: 148,523,036 (GRCm39)	E165V	probably damaging	Het
Alb	T	C	5: 90,609,573 (GRCm39)		probably benign	Het
Ank2	C	A	3: 126,749,519 (GRCm39)	E503D	probably damaging	Het
Arhgef10	T	C	8: 14,978,847 (GRCm39)	V38A	probably benign	Het
Astn2	A	G	4: 65,664,530 (GRCm39)		probably benign	Het
Bahcc1	G	A	11: 120,159,235 (GRCm39)	R154H	probably damaging	Het
Cep120	A	G	18: 53,868,844 (GRCm39)	Y112H	probably benign	Het
Chrna5	C	T	9: 54,911,923 (GRCm39)	T241I	probably damaging	Het
Clasp1	A	G	1: 118,530,206 (GRCm39)	S1215G	probably benign	Het
Ddx21	C	T	10: 62,427,769 (GRCm39)	R378Q	possibly damaging	Het
Dnah1	A	T	14: 30,991,846 (GRCm39)	L3052Q	probably damaging	Het
Dyrk4	G	T	6: 126,861,016 (GRCm39)	T445K	probably benign	Het
Ercc4	T	C	16: 12,945,457 (GRCm39)	W291R	probably damaging	Het
Flvcr1	A	G	1: 190,757,939 (GRCm39)	W76R	probably damaging	Het
Frmd3	A	G	4: 74,046,455 (GRCm39)	I132V	possibly damaging	Het
Gnb4	T	C	3: 32,639,324 (GRCm39)	D323G	probably damaging	Het
Hnrnpc	G	A	14: 52,312,896 (GRCm39)		probably benign	Het
Hnrnpl	T	C	7: 28,513,505 (GRCm39)	S202P	probably benign	Het
Hydin	T	A	8: 111,321,921 (GRCm39)	F4524L	probably damaging	Het
Iars2	A	G	1: 185,023,629 (GRCm39)		probably benign	Het
Ino80d	A	G	1: 63,107,341 (GRCm39)		probably null	Het
Man2a1	T	C	17: 65,020,606 (GRCm39)	F794S	probably damaging	Het
Mpp7	T	C	18: 7,403,269 (GRCm39)	D347G	probably benign	Het
Nup93	T	C	8: 95,032,716 (GRCm39)	L411P	probably damaging	Het
Or51f23	C	T	7: 102,452,846 (GRCm39)	Q54*	probably null	Het
Plin1	C	T	7: 79,372,382 (GRCm39)	V86I	probably damaging	Het
Rgs6	A	G	12: 83,099,324 (GRCm39)		probably benign	Het
Shroom3	C	T	5: 93,100,399 (GRCm39)	P1473S	probably benign	Het
Slc12a8	A	G	16: 33,371,397 (GRCm39)	I178V	probably damaging	Het
Slc20a2	T	A	8: 23,048,999 (GRCm39)	S219T	probably benign	Het
Tasor	C	T	14: 27,198,649 (GRCm39)	T1327I	probably damaging	Het
Tfeb	T	C	17: 48,097,920 (GRCm39)	M36T	probably benign	Het
Trim33	G	A	3: 103,218,289 (GRCm39)		probably benign	Het
Trnau1ap	A	G	4: 132,049,114 (GRCm39)	Y30H	probably damaging	Het
Tulp1	T	C	17: 28,578,298 (GRCm39)	K276E	possibly damaging	Het
Uvssa	T	A	5: 33,549,160 (GRCm39)	I340N	probably damaging	Het
Vmn1r32	T	A	6: 66,529,897 (GRCm39)	N293I	possibly damaging	Het
Xpc	T	C	6: 91,481,565 (GRCm39)	N250S	probably damaging	Het
Ybey	T	C	10: 76,304,161 (GRCm39)	I14V	probably benign	Het
Zfhx3	T	C	8: 109,673,182 (GRCm39)	Y1411H	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
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