Incidental Mutation 'R7266:Itga8'
| ID |
564911 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Itga8
|
| Ensembl Gene |
ENSMUSG00000026768 |
| Gene Name |
integrin alpha 8 |
| Synonyms |
|
| MMRRC Submission |
045389-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.870)
|
| Stock # |
R7266 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
2 |
| Chromosomal Location |
12111443-12306733 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to G
at 12237712 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Alanine
at position 336
(D336A)
|
| 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: D336A
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000028106
Gene: ENSMUSG00000026768
AA Change: D336A
| 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 damaging
Transcript: ENSMUST00000172791
AA Change: D336A
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000134154
Gene: ENSMUSG00000026768
AA Change: D336A
| 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: 100.0%
- 10x: 99.7%
- 20x: 99.1%
|
| 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: 59 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam18 |
T |
A |
8: 25,157,639 (GRCm39) |
I104F |
probably benign |
Het |
| Adgrg7 |
C |
T |
16: 56,590,674 (GRCm39) |
V166I |
probably benign |
Het |
| Agfg1 |
G |
T |
1: 82,859,966 (GRCm39) |
V278L |
probably benign |
Het |
| Alpk3 |
A |
G |
7: 80,742,328 (GRCm39) |
E715G |
possibly damaging |
Het |
| Ap2m1 |
A |
G |
16: 20,362,095 (GRCm39) |
Y401C |
probably damaging |
Het |
| Arhgef28 |
C |
T |
13: 98,101,960 (GRCm39) |
S838N |
probably benign |
Het |
| Ash2l |
A |
T |
8: 26,317,233 (GRCm39) |
Y373* |
probably null |
Het |
| Best2 |
C |
T |
8: 85,734,393 (GRCm39) |
V442I |
probably benign |
Het |
| Col4a2 |
T |
C |
8: 11,475,542 (GRCm39) |
|
probably null |
Het |
| Fat2 |
T |
A |
11: 55,175,856 (GRCm39) |
D1619V |
probably damaging |
Het |
| Fer1l6 |
A |
T |
15: 58,499,446 (GRCm39) |
N1272I |
probably benign |
Het |
| Gcc1 |
T |
A |
6: 28,417,995 (GRCm39) |
*779C |
probably null |
Het |
| Gm12216 |
G |
A |
11: 53,750,077 (GRCm39) |
|
probably benign |
Het |
| Grm2 |
C |
T |
9: 106,524,370 (GRCm39) |
V311I |
|
Het |
| Immt |
T |
A |
6: 71,851,689 (GRCm39) |
D683E |
probably benign |
Het |
| Jhy |
T |
C |
9: 40,872,453 (GRCm39) |
T19A |
probably benign |
Het |
| Kcnq2 |
T |
C |
2: 180,776,885 (GRCm39) |
M1V |
probably null |
Het |
| Kctd17 |
A |
T |
15: 78,317,214 (GRCm39) |
I117F |
probably damaging |
Het |
| Lrp6 |
T |
C |
6: 134,484,364 (GRCm39) |
T420A |
probably damaging |
Het |
| Manba |
T |
C |
3: 135,223,673 (GRCm39) |
S187P |
probably damaging |
Het |
| Mef2b |
A |
T |
8: 70,616,938 (GRCm39) |
D13V |
probably damaging |
Het |
| Mical2 |
T |
C |
7: 111,902,963 (GRCm39) |
F145L |
probably damaging |
Het |
| Mphosph8 |
T |
A |
14: 56,922,497 (GRCm39) |
D551E |
possibly damaging |
Het |
| Mplkipl1 |
A |
G |
19: 61,163,973 (GRCm39) |
V154A |
possibly damaging |
Het |
| Myo10 |
C |
G |
15: 25,783,067 (GRCm39) |
R1170G |
probably damaging |
Het |
| Myo16 |
A |
C |
8: 10,322,687 (GRCm39) |
Q39P |
unknown |
Het |
| Myo1f |
A |
G |
17: 33,820,668 (GRCm39) |
E837G |
probably benign |
Het |
| Nell2 |
T |
A |
15: 95,333,274 (GRCm39) |
I128F |
possibly damaging |
Het |
| Or1i2 |
A |
G |
10: 78,448,448 (GRCm39) |
V9A |
probably benign |
Het |
| Pcdh15 |
A |
T |
10: 74,215,222 (GRCm39) |
R659* |
probably null |
Het |
| Pcdhga1 |
A |
G |
18: 37,973,028 (GRCm39) |
Q881R |
possibly damaging |
Het |
| Plekhm2 |
T |
G |
4: 141,369,770 (GRCm39) |
E75A |
possibly damaging |
Het |
| Prc1 |
A |
G |
7: 79,957,405 (GRCm39) |
K357E |
possibly damaging |
Het |
| Pxk |
T |
A |
14: 8,146,220 (GRCm38) |
C377S |
probably benign |
Het |
| Ralgapa2 |
T |
C |
2: 146,176,488 (GRCm39) |
E1696G |
probably damaging |
Het |
| Rbbp6 |
T |
A |
7: 122,600,590 (GRCm39) |
S1532R |
unknown |
Het |
| Scn5a |
G |
T |
9: 119,391,626 (GRCm39) |
A22E |
probably benign |
Het |
| Sctr |
G |
A |
1: 119,949,955 (GRCm39) |
R48Q |
probably benign |
Het |
| Siae |
T |
C |
9: 37,534,309 (GRCm39) |
V115A |
probably damaging |
Het |
| Slc16a6 |
A |
G |
11: 109,344,107 (GRCm39) |
C563R |
probably benign |
Het |
| Sntg1 |
A |
C |
1: 8,752,243 (GRCm39) |
V58G |
possibly damaging |
Het |
| Snx11 |
C |
T |
11: 96,663,985 (GRCm39) |
V36M |
probably damaging |
Het |
| Stk3 |
C |
A |
15: 34,959,182 (GRCm39) |
S330I |
probably benign |
Het |
| Synpo |
A |
G |
18: 60,762,631 (GRCm39) |
F92S |
probably benign |
Het |
| Tle1 |
A |
G |
4: 72,057,924 (GRCm39) |
|
probably null |
Het |
| Tmem117 |
A |
G |
15: 94,829,684 (GRCm39) |
D173G |
possibly damaging |
Het |
| Tmem217b |
C |
A |
17: 29,738,347 (GRCm39) |
V140L |
probably benign |
Het |
| Tmprss5 |
T |
C |
9: 49,025,841 (GRCm39) |
W338R |
probably benign |
Het |
| Tnfrsf19 |
T |
C |
14: 61,212,147 (GRCm39) |
T168A |
possibly damaging |
Het |
| Trhde |
C |
T |
10: 114,636,776 (GRCm39) |
G144S |
possibly damaging |
Het |
| Trim56 |
G |
T |
5: 137,143,097 (GRCm39) |
Q140K |
probably damaging |
Het |
| Ttn |
C |
T |
2: 76,562,918 (GRCm39) |
V28679M |
probably damaging |
Het |
| Ubxn8 |
G |
A |
8: 34,113,231 (GRCm39) |
R208C |
probably damaging |
Het |
| Vmn2r72 |
G |
T |
7: 85,387,482 (GRCm39) |
S694* |
probably null |
Het |
| Wdr38 |
T |
A |
2: 38,890,276 (GRCm39) |
W137R |
probably damaging |
Het |
| Zdhhc6 |
G |
T |
19: 55,292,932 (GRCm39) |
N271K |
probably damaging |
Het |
| Zfyve9 |
A |
G |
4: 108,575,744 (GRCm39) |
S446P |
possibly damaging |
Het |
| Zmynd8 |
T |
C |
2: 165,649,492 (GRCm39) |
Q867R |
possibly damaging |
Het |
| Zswim3 |
T |
C |
2: 164,662,402 (GRCm39) |
I294T |
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 |
|
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 |
|
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'- GTATCCATCTTGGTTCAGGTCC -3'
(R):5'- CAACTTGTCTGTGGCTTCTTAGAC -3'
Sequencing Primer
(F):5'- TTGGTTCAGGTCCCCCAAGTG -3'
(R):5'- GGCTTCTTAGACATTTCTCGCATAG -3'
|
| Posted On |
2019-06-26 |
Incidental Mutation