Incidental Mutation 'R7124:Itga10'
| ID |
552183 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Itga10
|
| Ensembl Gene |
ENSMUSG00000090210 |
| Gene Name |
integrin, alpha 10 |
| Synonyms |
|
| MMRRC Submission |
045212-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.141)
|
| Stock # |
R7124 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
3 |
| Chromosomal Location |
96552900-96571835 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 96559081 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Lysine
at position 390
(M390K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000112393
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000029744]
[ENSMUST00000119365]
[ENSMUST00000137564]
|
| AlphaFold |
E9Q6R1 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000029744
AA Change: M390K
PolyPhen 2
Score 0.961 (Sensitivity: 0.78; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000029744
Gene: ENSMUSG00000090210
AA Change: M390K
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
22 |
N/A |
INTRINSIC |
|
Int_alpha
|
37 |
93 |
9.03e-3 |
SMART |
|
VWA
|
165 |
355 |
9.6e-43 |
SMART |
|
Int_alpha
|
427 |
481 |
2.01e0 |
SMART |
|
Int_alpha
|
482 |
539 |
5.14e-7 |
SMART |
|
Int_alpha
|
545 |
600 |
5.34e-14 |
SMART |
|
Int_alpha
|
607 |
652 |
8.75e0 |
SMART |
|
transmembrane domain
|
1123 |
1145 |
N/A |
INTRINSIC |
|
low complexity region
|
1153 |
1166 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000119365
AA Change: M390K
PolyPhen 2
Score 0.961 (Sensitivity: 0.78; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000112393
Gene: ENSMUSG00000090210
AA Change: M390K
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
22 |
N/A |
INTRINSIC |
|
Int_alpha
|
37 |
93 |
9.03e-3 |
SMART |
|
VWA
|
165 |
355 |
9.6e-43 |
SMART |
|
Int_alpha
|
427 |
481 |
2.01e0 |
SMART |
|
Int_alpha
|
482 |
539 |
5.14e-7 |
SMART |
|
Int_alpha
|
545 |
600 |
5.34e-14 |
SMART |
|
Int_alpha
|
607 |
652 |
8.75e0 |
SMART |
|
transmembrane domain
|
1122 |
1144 |
N/A |
INTRINSIC |
|
low complexity region
|
1152 |
1165 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000137564
|
| SMART Domains |
Protein: ENSMUSP00000121011
Gene: ENSMUSG00000106447
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:PEX11
|
1 |
172 |
4.5e-57 |
PFAM |
|
low complexity region
|
186 |
204 |
N/A |
INTRINSIC |
|
Int_alpha
|
222 |
278 |
9.03e-3 |
SMART |
|
Blast:VWA
|
292 |
345 |
3e-7 |
BLAST |
|
| Meta Mutation Damage Score |
0.1739 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.2%
|
| Validation Efficiency |
97% (72/74) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Integrins are integral transmembrane glycoproteins composed of noncovalently linked alpha and beta chains. They participate in cell adhesion as well as cell-surface mediated signalling. This gene encodes an integrin alpha chain and is expressed at high levels in chondrocytes, where it is transcriptionally regulated by AP-2epsilon and Ets-1. The protein encoded by this gene binds to collagen. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2014]
PHENOTYPE: Homozygous null mice display slightly shortened long bones and amild abnormalities in ephysiseal plate morphology. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 73 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700006A11Rik |
A |
C |
3: 124,208,042 (GRCm39) |
S212R |
probably benign |
Het |
| 4930562C15Rik |
T |
C |
16: 4,682,196 (GRCm39) |
S170P |
probably benign |
Het |
| 9330182O14Rik |
G |
A |
15: 40,008,303 (GRCm39) |
C59Y |
unknown |
Het |
| AA986860 |
A |
G |
1: 130,670,624 (GRCm39) |
E282G |
possibly damaging |
Het |
| Adam1a |
G |
T |
5: 121,657,397 (GRCm39) |
T632K |
probably benign |
Het |
| Aspg |
G |
T |
12: 112,089,417 (GRCm39) |
A402S |
probably damaging |
Het |
| Capn7 |
C |
T |
14: 31,058,642 (GRCm39) |
|
probably benign |
Het |
| Card9 |
C |
T |
2: 26,246,896 (GRCm39) |
|
probably null |
Het |
| Cdh13 |
T |
C |
8: 119,694,912 (GRCm39) |
V254A |
probably damaging |
Het |
| Colec10 |
T |
C |
15: 54,325,767 (GRCm39) |
V199A |
probably damaging |
Het |
| Copb2 |
T |
C |
9: 98,459,106 (GRCm39) |
S283P |
probably damaging |
Het |
| Csmd1 |
G |
T |
8: 15,953,202 (GRCm39) |
S3426R |
probably damaging |
Het |
| Cyp4f14 |
A |
G |
17: 33,133,562 (GRCm39) |
V98A |
probably benign |
Het |
| Disp1 |
C |
A |
1: 182,869,030 (GRCm39) |
R1130L |
probably damaging |
Het |
| Dysf |
A |
G |
6: 84,167,883 (GRCm39) |
|
probably null |
Het |
| Efcab3 |
T |
C |
11: 104,629,100 (GRCm39) |
F926S |
probably benign |
Het |
| Eif4ebp1 |
T |
C |
8: 27,763,447 (GRCm39) |
V80A |
probably damaging |
Het |
| Eloa |
T |
A |
4: 135,736,452 (GRCm39) |
I565F |
probably damaging |
Het |
| Espn |
G |
T |
4: 152,215,721 (GRCm39) |
H513N |
probably benign |
Het |
| Fam83c |
C |
T |
2: 155,671,491 (GRCm39) |
S648N |
probably benign |
Het |
| Fdxr |
C |
T |
11: 115,160,403 (GRCm39) |
V351M |
probably benign |
Het |
| Fras1 |
A |
T |
5: 96,862,260 (GRCm39) |
D2213V |
probably damaging |
Het |
| Gbp4 |
T |
A |
5: 105,267,825 (GRCm39) |
I474F |
possibly damaging |
Het |
| Golgb1 |
T |
C |
16: 36,734,035 (GRCm39) |
V1135A |
probably benign |
Het |
| Gpt2 |
G |
A |
8: 86,244,681 (GRCm39) |
E325K |
probably benign |
Het |
| Hipk2 |
A |
T |
6: 38,795,413 (GRCm39) |
Y285* |
probably null |
Het |
| Ifi27l2b |
T |
C |
12: 103,417,579 (GRCm39) |
I203V |
probably damaging |
Het |
| Itgb8 |
G |
T |
12: 119,166,159 (GRCm39) |
S124* |
probably null |
Het |
| Klhdc10 |
T |
A |
6: 30,441,826 (GRCm39) |
F173I |
probably damaging |
Het |
| Kng2 |
T |
G |
16: 22,830,805 (GRCm39) |
N168T |
probably damaging |
Het |
| Krtap24-1 |
T |
C |
16: 88,408,434 (GRCm39) |
T231A |
probably damaging |
Het |
| Lbx2 |
A |
T |
6: 83,065,045 (GRCm39) |
D194V |
probably damaging |
Het |
| Lrrc39 |
C |
A |
3: 116,359,562 (GRCm39) |
Q36K |
probably benign |
Het |
| Madd |
T |
C |
2: 90,992,393 (GRCm39) |
E1093G |
possibly damaging |
Het |
| Mfap3l |
A |
G |
8: 61,124,303 (GRCm39) |
T182A |
probably damaging |
Het |
| Myo9b |
T |
A |
8: 71,786,345 (GRCm39) |
Y670* |
probably null |
Het |
| Nbea |
A |
G |
3: 55,899,865 (GRCm39) |
L1428P |
probably damaging |
Het |
| Nkx2-3 |
T |
C |
19: 43,603,245 (GRCm39) |
Y284H |
possibly damaging |
Het |
| Nphp4 |
A |
G |
4: 152,640,141 (GRCm39) |
D1009G |
probably benign |
Het |
| Npy2r |
G |
A |
3: 82,448,490 (GRCm39) |
A95V |
probably damaging |
Het |
| Nuggc |
A |
G |
14: 65,846,251 (GRCm39) |
E70G |
probably damaging |
Het |
| Or5ap2 |
T |
C |
2: 85,680,254 (GRCm39) |
S153P |
probably benign |
Het |
| Or5m11 |
T |
A |
2: 85,781,817 (GRCm39) |
S137T |
possibly damaging |
Het |
| Palld |
A |
T |
8: 61,969,679 (GRCm39) |
V1215D |
unknown |
Het |
| Pard6g |
T |
C |
18: 80,160,340 (GRCm39) |
I151T |
possibly damaging |
Het |
| Parp12 |
T |
C |
6: 39,088,670 (GRCm39) |
I189V |
probably benign |
Het |
| Parp4 |
A |
G |
14: 56,840,256 (GRCm39) |
I554V |
probably benign |
Het |
| Pcnx2 |
G |
A |
8: 126,480,356 (GRCm39) |
P1984S |
probably damaging |
Het |
| Piwil4 |
T |
C |
9: 14,648,196 (GRCm39) |
M128V |
probably benign |
Het |
| Polr2a |
C |
A |
11: 69,628,288 (GRCm39) |
E1302* |
probably null |
Het |
| Psg17 |
C |
A |
7: 18,548,421 (GRCm39) |
G450V |
probably damaging |
Het |
| Psg17 |
C |
G |
7: 18,548,422 (GRCm39) |
G450R |
probably damaging |
Het |
| Rag1 |
T |
C |
2: 101,474,128 (GRCm39) |
E338G |
probably damaging |
Het |
| Rev3l |
A |
T |
10: 39,698,163 (GRCm39) |
K887* |
probably null |
Het |
| Rragd |
T |
C |
4: 32,996,027 (GRCm39) |
F124S |
possibly damaging |
Het |
| Scube1 |
A |
T |
15: 83,513,712 (GRCm39) |
|
probably null |
Het |
| Sfpq |
A |
T |
4: 126,919,725 (GRCm39) |
D490V |
possibly damaging |
Het |
| Smc1b |
G |
T |
15: 84,955,798 (GRCm39) |
Q1034K |
probably damaging |
Het |
| Smg7 |
T |
C |
1: 152,753,831 (GRCm39) |
N5S |
probably benign |
Het |
| Spata31d1a |
A |
C |
13: 59,850,301 (GRCm39) |
L609R |
probably damaging |
Het |
| Ssh2 |
A |
G |
11: 77,345,164 (GRCm39) |
K1050E |
probably benign |
Het |
| Stab1 |
G |
A |
14: 30,882,824 (GRCm39) |
T393I |
possibly damaging |
Het |
| Sult2a4 |
C |
T |
7: 13,722,320 (GRCm39) |
W49* |
probably null |
Het |
| Thrap3 |
A |
T |
4: 126,074,231 (GRCm39) |
S172T |
unknown |
Het |
| Tmem130 |
A |
G |
5: 144,687,721 (GRCm39) |
V205A |
probably damaging |
Het |
| Ube2d2b |
A |
G |
5: 107,978,717 (GRCm39) |
I123V |
probably benign |
Het |
| Unc79 |
G |
T |
12: 103,027,652 (GRCm39) |
L414F |
probably damaging |
Het |
| Vmn2r30 |
C |
T |
7: 7,337,183 (GRCm39) |
S151N |
probably benign |
Het |
| Vmn2r54 |
T |
A |
7: 12,356,078 (GRCm39) |
T443S |
probably benign |
Het |
| Zfp229 |
T |
A |
17: 21,961,597 (GRCm39) |
S51T |
probably damaging |
Het |
| Zfp617 |
T |
C |
8: 72,686,384 (GRCm39) |
L238P |
probably damaging |
Het |
| Zfp707 |
T |
A |
15: 75,845,398 (GRCm39) |
C87* |
probably null |
Het |
| Zfp853 |
T |
C |
5: 143,275,362 (GRCm39) |
K101R |
unknown |
Het |
|
| Other mutations in Itga10 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01473:Itga10
|
APN |
3 |
96,554,957 (GRCm39) |
missense |
probably damaging |
0.96 |
|
IGL01694:Itga10
|
APN |
3 |
96,559,833 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL01754:Itga10
|
APN |
3 |
96,564,091 (GRCm39) |
unclassified |
probably benign |
|
|
IGL02527:Itga10
|
APN |
3 |
96,562,940 (GRCm39) |
unclassified |
probably benign |
|
|
IGL02956:Itga10
|
APN |
3 |
96,562,429 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
IGL03371:Itga10
|
APN |
3 |
96,562,104 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
IGL03055:Itga10
|
UTSW |
3 |
96,557,836 (GRCm39) |
missense |
probably damaging |
0.99 |
|
PIT4515001:Itga10
|
UTSW |
3 |
96,569,948 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0153:Itga10
|
UTSW |
3 |
96,561,016 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0308:Itga10
|
UTSW |
3 |
96,558,780 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0331:Itga10
|
UTSW |
3 |
96,559,799 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0413:Itga10
|
UTSW |
3 |
96,556,375 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0437:Itga10
|
UTSW |
3 |
96,556,453 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0511:Itga10
|
UTSW |
3 |
96,565,490 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0630:Itga10
|
UTSW |
3 |
96,563,615 (GRCm39) |
unclassified |
probably benign |
|
|
R0844:Itga10
|
UTSW |
3 |
96,559,054 (GRCm39) |
splice site |
probably benign |
|
|
R0849:Itga10
|
UTSW |
3 |
96,559,846 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
R0894:Itga10
|
UTSW |
3 |
96,560,976 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
R0919:Itga10
|
UTSW |
3 |
96,559,054 (GRCm39) |
splice site |
probably benign |
|
|
R1027:Itga10
|
UTSW |
3 |
96,559,054 (GRCm39) |
splice site |
probably benign |
|
|
R1341:Itga10
|
UTSW |
3 |
96,559,811 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1350:Itga10
|
UTSW |
3 |
96,564,793 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1370:Itga10
|
UTSW |
3 |
96,559,054 (GRCm39) |
splice site |
probably benign |
|
|
R1467:Itga10
|
UTSW |
3 |
96,559,545 (GRCm39) |
nonsense |
probably null |
|
|
R1467:Itga10
|
UTSW |
3 |
96,559,545 (GRCm39) |
nonsense |
probably null |
|
|
R1589:Itga10
|
UTSW |
3 |
96,559,054 (GRCm39) |
splice site |
probably benign |
|
|
R1590:Itga10
|
UTSW |
3 |
96,559,054 (GRCm39) |
splice site |
probably benign |
|
|
R1601:Itga10
|
UTSW |
3 |
96,560,974 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R1659:Itga10
|
UTSW |
3 |
96,570,293 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R1665:Itga10
|
UTSW |
3 |
96,559,054 (GRCm39) |
splice site |
probably benign |
|
|
R1667:Itga10
|
UTSW |
3 |
96,559,054 (GRCm39) |
splice site |
probably benign |
|
|
R1686:Itga10
|
UTSW |
3 |
96,559,141 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R1972:Itga10
|
UTSW |
3 |
96,559,054 (GRCm39) |
splice site |
probably benign |
|
|
R1976:Itga10
|
UTSW |
3 |
96,559,054 (GRCm39) |
splice site |
probably benign |
|
|
R2020:Itga10
|
UTSW |
3 |
96,559,806 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2040:Itga10
|
UTSW |
3 |
96,559,054 (GRCm39) |
splice site |
probably benign |
|
|
R2044:Itga10
|
UTSW |
3 |
96,559,054 (GRCm39) |
splice site |
probably benign |
|
|
R2044:Itga10
|
UTSW |
3 |
96,565,006 (GRCm39) |
missense |
probably benign |
|
|
R2045:Itga10
|
UTSW |
3 |
96,559,054 (GRCm39) |
splice site |
probably benign |
|
|
R2060:Itga10
|
UTSW |
3 |
96,562,314 (GRCm39) |
nonsense |
probably null |
|
|
R2146:Itga10
|
UTSW |
3 |
96,561,039 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2146:Itga10
|
UTSW |
3 |
96,558,808 (GRCm39) |
missense |
possibly damaging |
0.59 |
|
R2170:Itga10
|
UTSW |
3 |
96,557,773 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2893:Itga10
|
UTSW |
3 |
96,562,416 (GRCm39) |
missense |
probably benign |
0.11 |
|
R2926:Itga10
|
UTSW |
3 |
96,560,165 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3622:Itga10
|
UTSW |
3 |
96,559,054 (GRCm39) |
splice site |
probably benign |
|
|
R3623:Itga10
|
UTSW |
3 |
96,559,054 (GRCm39) |
splice site |
probably benign |
|
|
R4416:Itga10
|
UTSW |
3 |
96,565,562 (GRCm39) |
missense |
possibly damaging |
0.58 |
|
R4633:Itga10
|
UTSW |
3 |
96,555,020 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R5074:Itga10
|
UTSW |
3 |
96,559,527 (GRCm39) |
nonsense |
probably null |
|
|
R5095:Itga10
|
UTSW |
3 |
96,555,480 (GRCm39) |
missense |
probably benign |
0.21 |
|
R5495:Itga10
|
UTSW |
3 |
96,554,687 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R5813:Itga10
|
UTSW |
3 |
96,559,901 (GRCm39) |
missense |
probably benign |
0.38 |
|
R6114:Itga10
|
UTSW |
3 |
96,556,351 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6172:Itga10
|
UTSW |
3 |
96,554,753 (GRCm39) |
missense |
probably benign |
0.18 |
|
R6275:Itga10
|
UTSW |
3 |
96,565,501 (GRCm39) |
missense |
probably benign |
0.36 |
|
R6298:Itga10
|
UTSW |
3 |
96,564,078 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6433:Itga10
|
UTSW |
3 |
96,565,357 (GRCm39) |
critical splice donor site |
probably null |
|
|
R6841:Itga10
|
UTSW |
3 |
96,564,030 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6909:Itga10
|
UTSW |
3 |
96,569,915 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6927:Itga10
|
UTSW |
3 |
96,564,030 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7310:Itga10
|
UTSW |
3 |
96,555,475 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7387:Itga10
|
UTSW |
3 |
96,560,094 (GRCm39) |
missense |
probably benign |
0.11 |
|
R7464:Itga10
|
UTSW |
3 |
96,555,471 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7624:Itga10
|
UTSW |
3 |
96,560,269 (GRCm39) |
missense |
probably benign |
|
|
R7638:Itga10
|
UTSW |
3 |
96,564,707 (GRCm39) |
splice site |
probably null |
|
|
R7639:Itga10
|
UTSW |
3 |
96,556,898 (GRCm39) |
missense |
probably benign |
0.36 |
|
R7893:Itga10
|
UTSW |
3 |
96,556,928 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8297:Itga10
|
UTSW |
3 |
96,562,116 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8753:Itga10
|
UTSW |
3 |
96,558,471 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9526:Itga10
|
UTSW |
3 |
96,564,273 (GRCm39) |
missense |
probably damaging |
1.00 |
|
X0064:Itga10
|
UTSW |
3 |
96,560,252 (GRCm39) |
missense |
probably benign |
0.03 |
|
| Predicted Primers |
PCR Primer
(F):5'- AGGTTGGATAGACCCTGACC -3'
(R):5'- CTGAGTGACAAAGTGCATGAGC -3'
Sequencing Primer
(F):5'- GGATAGACCCTGACCCTCTC -3'
(R):5'- TAAGGGGGAGTGCCTCATACC -3'
|
| Posted On |
2019-05-15 |
Incidental Mutation