Incidental Mutation 'IGL03183:Shld2'
ID |
412319 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Shld2
|
Ensembl Gene |
ENSMUSG00000041471 |
Gene Name |
shieldin complex subunit 2 |
Synonyms |
3110001K24Rik, Fam35a |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.106)
|
Stock # |
IGL03183
|
Quality Score |
|
Status
|
|
Chromosome |
14 |
Chromosomal Location |
33958990-34032450 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 33967143 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Alanine
at position 690
(T690A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000107548
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000111917]
[ENSMUST00000228704]
|
AlphaFold |
Q3UEN2 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000111917
AA Change: T690A
PolyPhen 2
Score 0.016 (Sensitivity: 0.95; Specificity: 0.79)
|
SMART Domains |
Protein: ENSMUSP00000107548 Gene: ENSMUSG00000041471 AA Change: T690A
Domain | Start | End | E-Value | Type |
low complexity region
|
66 |
75 |
N/A |
INTRINSIC |
low complexity region
|
163 |
177 |
N/A |
INTRINSIC |
Pfam:FAM35_C
|
694 |
866 |
4.6e-84 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000228704
AA Change: T138A
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 44 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aldh6a1 |
A |
G |
12: 84,483,214 (GRCm39) |
|
probably null |
Het |
Ano2 |
A |
T |
6: 125,687,592 (GRCm39) |
K32N |
probably benign |
Het |
Asic1 |
A |
G |
15: 99,569,898 (GRCm39) |
H73R |
probably benign |
Het |
B3glct |
A |
G |
5: 149,677,607 (GRCm39) |
D412G |
probably damaging |
Het |
Baz2b |
T |
C |
2: 59,733,640 (GRCm39) |
I1891V |
probably benign |
Het |
Cc2d2a |
A |
G |
5: 43,889,721 (GRCm39) |
E1278G |
probably damaging |
Het |
Ccdc116 |
T |
C |
16: 16,960,718 (GRCm39) |
E33G |
probably benign |
Het |
Celf4 |
T |
A |
18: 25,670,796 (GRCm39) |
Q129L |
probably benign |
Het |
Celf4 |
G |
T |
18: 25,670,797 (GRCm39) |
Q129K |
probably benign |
Het |
Cfap251 |
A |
G |
5: 123,392,682 (GRCm39) |
|
probably benign |
Het |
Col18a1 |
A |
G |
10: 76,909,588 (GRCm39) |
S817P |
probably damaging |
Het |
Corin |
A |
G |
5: 72,458,929 (GRCm39) |
V940A |
probably damaging |
Het |
Dlgap2 |
A |
T |
8: 14,777,525 (GRCm39) |
N257Y |
possibly damaging |
Het |
Dnah2 |
C |
A |
11: 69,349,314 (GRCm39) |
V2441L |
possibly damaging |
Het |
Evpl |
C |
T |
11: 116,112,438 (GRCm39) |
E1751K |
probably damaging |
Het |
Fat1 |
G |
A |
8: 45,403,623 (GRCm39) |
E125K |
probably damaging |
Het |
Fras1 |
A |
T |
5: 96,881,640 (GRCm39) |
|
probably benign |
Het |
Fryl |
G |
A |
5: 73,234,038 (GRCm39) |
P1496S |
probably benign |
Het |
G3bp2 |
A |
C |
5: 92,202,905 (GRCm39) |
M362R |
possibly damaging |
Het |
Grk5 |
T |
C |
19: 61,057,774 (GRCm39) |
F158S |
probably damaging |
Het |
Hmbox1 |
G |
T |
14: 65,125,048 (GRCm39) |
Q188K |
probably damaging |
Het |
Ift172 |
A |
T |
5: 31,429,348 (GRCm39) |
D604E |
probably benign |
Het |
Igkv6-32 |
T |
A |
6: 70,051,556 (GRCm39) |
T5S |
probably benign |
Het |
Impa1 |
A |
G |
3: 10,388,054 (GRCm39) |
Y123H |
probably damaging |
Het |
Itgb4 |
C |
T |
11: 115,879,550 (GRCm39) |
T612M |
probably damaging |
Het |
Med12l |
T |
A |
3: 58,944,976 (GRCm39) |
|
probably null |
Het |
Meis2 |
A |
G |
2: 115,890,002 (GRCm39) |
L160S |
probably damaging |
Het |
Micu1 |
C |
T |
10: 59,563,870 (GRCm39) |
R31* |
probably null |
Het |
Nlrp9a |
G |
T |
7: 26,256,882 (GRCm39) |
A167S |
probably damaging |
Het |
Or10j27 |
A |
G |
1: 172,958,425 (GRCm39) |
Y120H |
probably damaging |
Het |
Or4d10 |
A |
T |
19: 12,051,392 (GRCm39) |
N201K |
probably damaging |
Het |
Plpp6 |
A |
G |
19: 28,942,071 (GRCm39) |
N224S |
possibly damaging |
Het |
Sdk2 |
T |
A |
11: 113,741,810 (GRCm39) |
H803L |
probably benign |
Het |
Slc36a1 |
T |
A |
11: 55,119,017 (GRCm39) |
Y331N |
probably damaging |
Het |
Spata31d1c |
A |
T |
13: 65,183,009 (GRCm39) |
I184F |
possibly damaging |
Het |
Stat3 |
T |
C |
11: 100,793,582 (GRCm39) |
I338V |
possibly damaging |
Het |
Stk10 |
T |
A |
11: 32,554,143 (GRCm39) |
V610E |
possibly damaging |
Het |
Syna |
A |
G |
5: 134,587,144 (GRCm39) |
S602P |
probably benign |
Het |
Tap2 |
T |
A |
17: 34,424,399 (GRCm39) |
|
probably benign |
Het |
Tln1 |
T |
C |
4: 43,539,084 (GRCm39) |
|
probably benign |
Het |
Tra2b |
C |
A |
16: 22,073,303 (GRCm39) |
|
probably benign |
Het |
Ttc7b |
T |
C |
12: 100,339,968 (GRCm39) |
|
probably null |
Het |
Vmn2r121 |
G |
A |
X: 123,042,023 (GRCm39) |
T378I |
probably benign |
Het |
Wdr1 |
A |
T |
5: 38,690,825 (GRCm39) |
|
probably null |
Het |
|
Other mutations in Shld2 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00157:Shld2
|
APN |
14 |
33,990,582 (GRCm39) |
missense |
probably benign |
0.02 |
IGL00962:Shld2
|
APN |
14 |
33,971,208 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01288:Shld2
|
APN |
14 |
33,981,600 (GRCm39) |
missense |
probably benign |
0.00 |
IGL01302:Shld2
|
APN |
14 |
33,981,684 (GRCm39) |
missense |
probably benign |
0.03 |
IGL01312:Shld2
|
APN |
14 |
33,990,150 (GRCm39) |
missense |
possibly damaging |
0.56 |
IGL01444:Shld2
|
APN |
14 |
33,959,514 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01633:Shld2
|
APN |
14 |
33,971,136 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02251:Shld2
|
APN |
14 |
33,990,235 (GRCm39) |
missense |
probably benign |
0.10 |
IGL02927:Shld2
|
APN |
14 |
33,989,658 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03226:Shld2
|
APN |
14 |
33,990,328 (GRCm39) |
missense |
probably benign |
0.08 |
R0111:Shld2
|
UTSW |
14 |
33,989,686 (GRCm39) |
missense |
probably damaging |
0.98 |
R1170:Shld2
|
UTSW |
14 |
33,990,448 (GRCm39) |
missense |
possibly damaging |
0.92 |
R1348:Shld2
|
UTSW |
14 |
33,990,880 (GRCm39) |
missense |
probably damaging |
1.00 |
R1467:Shld2
|
UTSW |
14 |
33,990,619 (GRCm39) |
missense |
possibly damaging |
0.92 |
R1467:Shld2
|
UTSW |
14 |
33,990,619 (GRCm39) |
missense |
possibly damaging |
0.92 |
R1538:Shld2
|
UTSW |
14 |
33,990,833 (GRCm39) |
missense |
probably damaging |
1.00 |
R1602:Shld2
|
UTSW |
14 |
33,989,607 (GRCm39) |
missense |
probably damaging |
1.00 |
R1650:Shld2
|
UTSW |
14 |
33,981,574 (GRCm39) |
intron |
probably benign |
|
R1777:Shld2
|
UTSW |
14 |
33,990,130 (GRCm39) |
missense |
probably benign |
0.07 |
R1843:Shld2
|
UTSW |
14 |
33,989,760 (GRCm39) |
missense |
probably benign |
0.01 |
R2425:Shld2
|
UTSW |
14 |
33,990,646 (GRCm39) |
missense |
probably damaging |
0.96 |
R3837:Shld2
|
UTSW |
14 |
33,971,142 (GRCm39) |
missense |
probably damaging |
0.99 |
R3838:Shld2
|
UTSW |
14 |
33,967,325 (GRCm39) |
missense |
probably benign |
0.01 |
R3904:Shld2
|
UTSW |
14 |
33,981,666 (GRCm39) |
missense |
probably damaging |
1.00 |
R3964:Shld2
|
UTSW |
14 |
33,981,644 (GRCm39) |
missense |
probably damaging |
1.00 |
R4322:Shld2
|
UTSW |
14 |
33,981,632 (GRCm39) |
missense |
probably damaging |
0.99 |
R4708:Shld2
|
UTSW |
14 |
33,989,790 (GRCm39) |
missense |
probably benign |
0.17 |
R4771:Shld2
|
UTSW |
14 |
33,990,663 (GRCm39) |
missense |
probably damaging |
1.00 |
R4838:Shld2
|
UTSW |
14 |
33,990,582 (GRCm39) |
missense |
probably benign |
0.02 |
R5448:Shld2
|
UTSW |
14 |
33,990,327 (GRCm39) |
missense |
probably benign |
0.32 |
R5874:Shld2
|
UTSW |
14 |
33,967,215 (GRCm39) |
missense |
probably benign |
0.08 |
R6332:Shld2
|
UTSW |
14 |
33,990,129 (GRCm39) |
missense |
probably benign |
0.07 |
R6333:Shld2
|
UTSW |
14 |
33,989,565 (GRCm39) |
missense |
probably damaging |
1.00 |
R6476:Shld2
|
UTSW |
14 |
33,989,971 (GRCm39) |
missense |
probably benign |
0.27 |
R6576:Shld2
|
UTSW |
14 |
33,990,199 (GRCm39) |
missense |
probably damaging |
1.00 |
R7172:Shld2
|
UTSW |
14 |
33,959,525 (GRCm39) |
missense |
probably damaging |
1.00 |
R7574:Shld2
|
UTSW |
14 |
33,959,423 (GRCm39) |
missense |
probably damaging |
1.00 |
R7725:Shld2
|
UTSW |
14 |
33,990,661 (GRCm39) |
missense |
possibly damaging |
0.86 |
R7755:Shld2
|
UTSW |
14 |
33,970,847 (GRCm39) |
missense |
probably damaging |
0.99 |
R7840:Shld2
|
UTSW |
14 |
33,959,523 (GRCm39) |
missense |
probably damaging |
1.00 |
R7881:Shld2
|
UTSW |
14 |
33,989,724 (GRCm39) |
missense |
possibly damaging |
0.63 |
R7947:Shld2
|
UTSW |
14 |
33,990,436 (GRCm39) |
missense |
probably benign |
0.27 |
R8192:Shld2
|
UTSW |
14 |
33,967,173 (GRCm39) |
missense |
probably benign |
0.04 |
R8443:Shld2
|
UTSW |
14 |
33,989,942 (GRCm39) |
missense |
probably benign |
0.00 |
R8492:Shld2
|
UTSW |
14 |
33,967,189 (GRCm39) |
missense |
probably damaging |
0.99 |
R9323:Shld2
|
UTSW |
14 |
33,981,596 (GRCm39) |
missense |
probably damaging |
0.98 |
R9524:Shld2
|
UTSW |
14 |
33,971,245 (GRCm39) |
nonsense |
probably null |
|
X0009:Shld2
|
UTSW |
14 |
33,967,143 (GRCm39) |
missense |
probably benign |
0.02 |
Z1177:Shld2
|
UTSW |
14 |
33,990,555 (GRCm39) |
missense |
probably damaging |
1.00 |
Z1177:Shld2
|
UTSW |
14 |
33,963,428 (GRCm39) |
missense |
probably benign |
0.31 |
|
Posted On |
2016-08-02 |