Incidental Mutation 'IGL01288:Shld2'
ID |
72822 |
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: 0.107)
|
Stock # |
IGL01288
|
Quality Score |
|
Status
|
|
Chromosome |
14 |
Chromosomal Location |
33958990-34032450 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 33981600 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tyrosine to Asparagine
at position 513
(Y513N)
|
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: Y513N
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
SMART Domains |
Protein: ENSMUSP00000107548 Gene: ENSMUSG00000041471 AA Change: Y513N
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 |
noncoding transcript
Transcript: ENSMUST00000227225
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000228310
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000228704
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 46 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acsf3 |
G |
T |
8: 123,507,381 (GRCm39) |
|
probably benign |
Het |
Acsl3 |
G |
T |
1: 78,677,476 (GRCm39) |
W490L |
possibly damaging |
Het |
Ahnak |
A |
G |
19: 8,979,858 (GRCm39) |
I381V |
possibly damaging |
Het |
Aox1 |
A |
G |
1: 58,333,566 (GRCm39) |
Y261C |
probably damaging |
Het |
Ap3m2 |
T |
C |
8: 23,293,931 (GRCm39) |
T40A |
probably benign |
Het |
Arfgef1 |
C |
T |
1: 10,283,436 (GRCm39) |
A158T |
possibly damaging |
Het |
Atp1a4 |
T |
C |
1: 172,085,474 (GRCm39) |
E43G |
possibly damaging |
Het |
Cog5 |
C |
T |
12: 31,936,205 (GRCm39) |
T584I |
probably benign |
Het |
Cpa1 |
G |
A |
6: 30,640,582 (GRCm39) |
V75M |
probably damaging |
Het |
Cul7 |
A |
G |
17: 46,968,733 (GRCm39) |
|
probably benign |
Het |
Dennd2b |
A |
G |
7: 109,139,029 (GRCm39) |
I668T |
probably damaging |
Het |
Dop1b |
T |
C |
16: 93,536,181 (GRCm39) |
I93T |
possibly damaging |
Het |
Dyrk2 |
T |
C |
10: 118,696,604 (GRCm39) |
Y218C |
probably damaging |
Het |
Efr3b |
T |
C |
12: 4,032,865 (GRCm39) |
Y164C |
probably damaging |
Het |
Etos1 |
C |
A |
7: 130,373,935 (GRCm39) |
|
probably benign |
Het |
Fam13a |
A |
G |
6: 58,933,712 (GRCm39) |
Y293H |
probably damaging |
Het |
Gde1 |
A |
T |
7: 118,290,863 (GRCm39) |
V154D |
possibly damaging |
Het |
Glyat |
A |
G |
19: 12,627,719 (GRCm39) |
T105A |
possibly damaging |
Het |
Il36b |
A |
T |
2: 24,049,925 (GRCm39) |
I179L |
probably benign |
Het |
Kif21b |
C |
T |
1: 136,099,922 (GRCm39) |
T1492M |
probably benign |
Het |
Kmt2d |
G |
T |
15: 98,762,925 (GRCm39) |
P282T |
probably damaging |
Het |
Lgi4 |
A |
G |
7: 30,768,468 (GRCm39) |
E489G |
probably benign |
Het |
Lipn |
A |
C |
19: 34,056,435 (GRCm39) |
E260D |
probably benign |
Het |
Mdn1 |
A |
G |
4: 32,730,864 (GRCm39) |
D2911G |
probably benign |
Het |
Nab2 |
C |
T |
10: 127,500,978 (GRCm39) |
R38Q |
probably damaging |
Het |
Or1e35 |
A |
T |
11: 73,798,139 (GRCm39) |
Y60N |
probably damaging |
Het |
Or4c1 |
A |
T |
2: 89,133,816 (GRCm39) |
V40E |
possibly damaging |
Het |
Or4p22 |
T |
A |
2: 88,317,592 (GRCm39) |
I172K |
probably damaging |
Het |
Or52i2 |
A |
G |
7: 102,319,858 (GRCm39) |
T244A |
probably damaging |
Het |
Or5t16 |
C |
A |
2: 86,818,598 (GRCm39) |
M307I |
probably benign |
Het |
Or6f2 |
T |
C |
7: 139,756,528 (GRCm39) |
L165P |
probably damaging |
Het |
Osbpl6 |
T |
C |
2: 76,395,167 (GRCm39) |
S337P |
probably damaging |
Het |
Phf8 |
T |
C |
X: 150,330,921 (GRCm39) |
|
probably null |
Het |
Pik3c2b |
C |
T |
1: 133,022,543 (GRCm39) |
H1162Y |
probably damaging |
Het |
Plek2 |
T |
C |
12: 78,941,727 (GRCm39) |
D134G |
possibly damaging |
Het |
Rnf139 |
G |
A |
15: 58,771,028 (GRCm39) |
R351H |
probably damaging |
Het |
Skint5 |
T |
C |
4: 113,381,332 (GRCm39) |
|
probably benign |
Het |
Slc12a9 |
C |
T |
5: 137,329,200 (GRCm39) |
|
probably null |
Het |
Stradb |
C |
A |
1: 59,031,460 (GRCm39) |
H216N |
possibly damaging |
Het |
Tex15 |
C |
T |
8: 34,061,412 (GRCm39) |
H281Y |
probably benign |
Het |
Tg |
G |
T |
15: 66,608,125 (GRCm39) |
V237L |
possibly damaging |
Het |
Tns1 |
T |
A |
1: 73,992,969 (GRCm39) |
T570S |
probably damaging |
Het |
Tpm1 |
C |
T |
9: 66,943,337 (GRCm39) |
R105H |
probably damaging |
Het |
Wdfy3 |
G |
T |
5: 102,049,857 (GRCm39) |
|
probably null |
Het |
Zc3h12c |
A |
G |
9: 52,028,951 (GRCm39) |
|
probably benign |
Het |
Zmynd8 |
T |
A |
2: 165,654,734 (GRCm39) |
S584C |
probably damaging |
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 |
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 |
IGL03183:Shld2
|
APN |
14 |
33,967,143 (GRCm39) |
missense |
probably benign |
0.02 |
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 |
2013-10-07 |