Incidental Mutation 'R5533:Itga8'
| ID |
433730 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Itga8
|
| Ensembl Gene |
ENSMUSG00000026768 |
| Gene Name |
integrin alpha 8 |
| Synonyms |
|
| MMRRC Submission |
043091-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.883)
|
| Stock # |
R5533 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
2 |
| Chromosomal Location |
12111443-12306733 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 12165161 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 816
(V816A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000028106
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000028106]
[ENSMUST00000172791]
|
| AlphaFold |
A2ARA8 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000028106
AA Change: V816A
PolyPhen 2
Score 0.903 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000028106
Gene: ENSMUSG00000026768
AA Change: V816A
| 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: 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 |
|
| Coding Region Coverage |
- 1x: 98.4%
- 3x: 97.1%
- 10x: 94.5%
- 20x: 88.2%
|
| 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: 57 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Agap2 |
A |
G |
10: 126,918,911 (GRCm39) |
E429G |
probably damaging |
Het |
| Akap12 |
T |
A |
10: 4,307,405 (GRCm39) |
V1405D |
probably damaging |
Het |
| Akap7 |
C |
T |
10: 25,159,880 (GRCm39) |
D107N |
possibly damaging |
Het |
| Arfgef1 |
A |
G |
1: 10,269,952 (GRCm39) |
|
probably null |
Het |
| Cacna1s |
T |
A |
1: 136,026,113 (GRCm39) |
|
probably null |
Het |
| Ctsd |
T |
C |
7: 141,931,070 (GRCm39) |
Q274R |
probably benign |
Het |
| Dysf |
G |
A |
6: 84,163,453 (GRCm39) |
R1575Q |
probably damaging |
Het |
| Erich6b |
A |
T |
14: 75,896,274 (GRCm39) |
L53F |
possibly damaging |
Het |
| Exoc6 |
A |
C |
19: 37,582,218 (GRCm39) |
|
probably null |
Het |
| Fbxw19 |
A |
T |
9: 109,315,133 (GRCm39) |
V143E |
probably benign |
Het |
| Fkbpl |
G |
A |
17: 34,864,303 (GRCm39) |
A24T |
probably benign |
Het |
| Fndc1 |
A |
G |
17: 7,991,608 (GRCm39) |
F696S |
unknown |
Het |
| Foxa3 |
G |
T |
7: 18,748,940 (GRCm39) |
Y102* |
probably null |
Het |
| Foxn1 |
A |
G |
11: 78,256,792 (GRCm39) |
M301T |
probably damaging |
Het |
| Foxp2 |
C |
T |
6: 15,197,119 (GRCm39) |
Q54* |
probably null |
Het |
| Glra1 |
T |
C |
11: 55,423,208 (GRCm39) |
E117G |
possibly damaging |
Het |
| Glt1d1 |
A |
T |
5: 127,768,095 (GRCm39) |
D234V |
probably damaging |
Het |
| Golm2 |
AGATGGTGATGGTG |
AGATGGTG |
2: 121,756,178 (GRCm39) |
|
probably benign |
Het |
| Gulp1 |
T |
C |
1: 44,812,441 (GRCm39) |
I137T |
probably damaging |
Het |
| Kdm4c |
G |
A |
4: 74,233,886 (GRCm39) |
|
probably benign |
Het |
| Krtap19-2 |
A |
G |
16: 88,670,996 (GRCm39) |
|
probably benign |
Het |
| Lcorl |
T |
C |
5: 45,891,219 (GRCm39) |
N378S |
possibly damaging |
Het |
| Ltbr |
G |
A |
6: 125,289,757 (GRCm39) |
R146W |
probably damaging |
Het |
| Mocos |
T |
C |
18: 24,807,357 (GRCm39) |
L363P |
probably damaging |
Het |
| Mycbp2 |
G |
T |
14: 103,520,081 (GRCm39) |
Y745* |
probably null |
Het |
| Nav3 |
A |
C |
10: 109,719,539 (GRCm39) |
N141K |
possibly damaging |
Het |
| Ncor1 |
T |
C |
11: 62,233,837 (GRCm39) |
N779S |
probably benign |
Het |
| Nebl |
G |
T |
2: 17,398,079 (GRCm39) |
Y414* |
probably null |
Het |
| Nf1 |
T |
G |
11: 79,336,615 (GRCm39) |
C1065G |
probably damaging |
Het |
| Nfib |
A |
G |
4: 82,278,004 (GRCm39) |
V216A |
probably damaging |
Het |
| Nub1 |
A |
T |
5: 24,907,379 (GRCm39) |
N354I |
possibly damaging |
Het |
| Nyap1 |
C |
T |
5: 137,733,726 (GRCm39) |
V436I |
probably benign |
Het |
| Or5m11b |
A |
G |
2: 85,805,797 (GRCm39) |
D70G |
possibly damaging |
Het |
| Or5p73 |
T |
C |
7: 108,065,469 (GRCm39) |
F313L |
probably benign |
Het |
| Pde2a |
T |
A |
7: 101,155,187 (GRCm39) |
M570K |
probably damaging |
Het |
| Pfas |
T |
C |
11: 68,882,296 (GRCm39) |
S856G |
probably benign |
Het |
| Pkd1l2 |
T |
C |
8: 117,794,855 (GRCm39) |
E368G |
probably benign |
Het |
| Ptf1a |
G |
A |
2: 19,451,969 (GRCm39) |
V323M |
probably damaging |
Het |
| Ptprh |
T |
C |
7: 4,552,504 (GRCm39) |
Y920C |
probably damaging |
Het |
| Sergef |
T |
A |
7: 46,264,200 (GRCm39) |
D229V |
possibly damaging |
Het |
| Slc1a4 |
T |
C |
11: 20,254,417 (GRCm39) |
K483R |
probably benign |
Het |
| Slc26a6 |
G |
A |
9: 108,735,155 (GRCm39) |
R351H |
probably damaging |
Het |
| Slc6a19 |
G |
A |
13: 73,833,948 (GRCm39) |
T370I |
possibly damaging |
Het |
| Smpd5 |
T |
C |
15: 76,178,757 (GRCm39) |
S42P |
possibly damaging |
Het |
| Snx13 |
G |
A |
12: 35,173,025 (GRCm39) |
|
probably null |
Het |
| Sox10 |
G |
A |
15: 79,040,502 (GRCm39) |
S185L |
probably benign |
Het |
| Spata31e5 |
T |
A |
1: 28,817,163 (GRCm39) |
I290F |
probably damaging |
Het |
| Srpk1 |
T |
C |
17: 28,821,733 (GRCm39) |
Y227C |
probably damaging |
Het |
| Stambpl1 |
T |
A |
19: 34,211,316 (GRCm39) |
|
probably null |
Het |
| Stk36 |
A |
G |
1: 74,665,750 (GRCm39) |
R698G |
possibly damaging |
Het |
| Tas2r122 |
T |
A |
6: 132,688,393 (GRCm39) |
T167S |
probably damaging |
Het |
| Tlr12 |
A |
G |
4: 128,509,656 (GRCm39) |
S865P |
probably damaging |
Het |
| Trp53bp1 |
A |
G |
2: 121,038,227 (GRCm39) |
L1537P |
probably damaging |
Het |
| Vstm2a |
C |
A |
11: 16,213,125 (GRCm39) |
T170K |
possibly damaging |
Het |
| Xpo7 |
A |
T |
14: 70,931,407 (GRCm39) |
F304I |
probably damaging |
Het |
| Zfp286 |
T |
C |
11: 62,671,796 (GRCm39) |
|
probably benign |
Het |
| Zfp985 |
A |
T |
4: 147,667,440 (GRCm39) |
K103* |
probably null |
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 |
|
|
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'- AGCACAAATTACAAAGGTTGGACC -3'
(R):5'- CAACTTGCTTCCTTTGAAATCAGTG -3'
Sequencing Primer
(F):5'- AAGAGCATTGGTCACTCTTCCAG -3'
(R):5'- TCAGTGTAATATATGAAACCAGTTGC -3'
|
| Posted On |
2016-10-06 |
Incidental Mutation