Incidental Mutation 'IGL01302:Shld2'
ID |
73283 |
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 # |
IGL01302
|
Quality Score |
|
Status
|
|
Chromosome |
14 |
Chromosomal Location |
33958990-34032450 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 33981684 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Isoleucine
at position 485
(V485I)
|
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: V485I
PolyPhen 2
Score 0.027 (Sensitivity: 0.95; Specificity: 0.81)
|
SMART Domains |
Protein: ENSMUSP00000107548 Gene: ENSMUSG00000041471 AA Change: V485I
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: 44 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca13 |
T |
A |
11: 9,349,470 (GRCm39) |
|
probably benign |
Het |
Abcb5 |
T |
A |
12: 118,881,935 (GRCm39) |
D598V |
probably damaging |
Het |
Adss1 |
T |
C |
12: 112,601,170 (GRCm39) |
|
probably benign |
Het |
Akap9 |
T |
A |
5: 4,020,711 (GRCm39) |
S1141T |
probably benign |
Het |
Avil |
T |
C |
10: 126,852,903 (GRCm39) |
|
probably null |
Het |
Avl9 |
C |
A |
6: 56,702,075 (GRCm39) |
H77N |
probably damaging |
Het |
Cacna1e |
A |
G |
1: 154,319,653 (GRCm39) |
V1349A |
probably damaging |
Het |
Cdc23 |
A |
C |
18: 34,767,697 (GRCm39) |
S483A |
probably benign |
Het |
Cep192 |
C |
T |
18: 67,991,974 (GRCm39) |
P1951S |
probably benign |
Het |
Cp |
A |
G |
3: 20,020,531 (GRCm39) |
T175A |
probably damaging |
Het |
Dubr |
A |
C |
16: 50,552,998 (GRCm39) |
|
noncoding transcript |
Het |
Eif4g2 |
G |
T |
7: 110,673,920 (GRCm39) |
Q695K |
possibly damaging |
Het |
Endod1 |
A |
T |
9: 14,268,535 (GRCm39) |
S317T |
possibly damaging |
Het |
Ep400 |
T |
C |
5: 110,889,914 (GRCm39) |
T450A |
probably benign |
Het |
Erc1 |
A |
C |
6: 119,699,264 (GRCm39) |
V790G |
probably damaging |
Het |
Fam222a |
T |
A |
5: 114,732,514 (GRCm39) |
L23Q |
possibly damaging |
Het |
Fancf |
A |
G |
7: 51,511,035 (GRCm39) |
V323A |
probably benign |
Het |
Grik2 |
T |
A |
10: 49,120,426 (GRCm39) |
Q621L |
probably damaging |
Het |
Gsk3b |
G |
T |
16: 38,040,380 (GRCm39) |
R319L |
probably benign |
Het |
Ikzf1 |
A |
G |
11: 11,718,923 (GRCm39) |
Y297C |
probably damaging |
Het |
Katnal2 |
T |
C |
18: 77,134,863 (GRCm39) |
|
probably benign |
Het |
Lrba |
G |
T |
3: 86,202,707 (GRCm39) |
C289F |
probably damaging |
Het |
Mos |
T |
C |
4: 3,871,815 (GRCm39) |
|
probably benign |
Het |
Mycn |
T |
C |
12: 12,987,587 (GRCm39) |
D270G |
possibly damaging |
Het |
Or52e15 |
A |
T |
7: 104,645,928 (GRCm39) |
M61K |
probably damaging |
Het |
Or6c207 |
T |
A |
10: 129,104,392 (GRCm39) |
I267F |
probably benign |
Het |
Pclo |
A |
G |
5: 14,726,013 (GRCm39) |
|
probably benign |
Het |
Pgm1 |
A |
G |
4: 99,786,803 (GRCm39) |
D14G |
probably damaging |
Het |
Pramel7 |
T |
A |
2: 87,321,717 (GRCm39) |
D106V |
possibly damaging |
Het |
Prdm9 |
G |
T |
17: 15,773,608 (GRCm39) |
H263N |
probably benign |
Het |
Psd4 |
T |
A |
2: 24,286,799 (GRCm39) |
|
probably null |
Het |
Ptprc |
G |
A |
1: 138,027,369 (GRCm39) |
T493I |
possibly damaging |
Het |
Rbbp8 |
T |
A |
18: 11,855,036 (GRCm39) |
S420R |
probably benign |
Het |
Sap30bp |
A |
G |
11: 115,853,373 (GRCm39) |
T219A |
probably damaging |
Het |
Slc2a7 |
T |
A |
4: 150,242,021 (GRCm39) |
L200Q |
probably damaging |
Het |
Slc38a6 |
T |
A |
12: 73,335,299 (GRCm39) |
|
probably null |
Het |
Tatdn2 |
T |
A |
6: 113,680,985 (GRCm39) |
|
probably benign |
Het |
Thrb |
A |
G |
14: 18,011,056 (GRCm38) |
|
probably benign |
Het |
Timp4 |
T |
C |
6: 115,223,269 (GRCm39) |
Y218C |
possibly damaging |
Het |
Tlr5 |
A |
G |
1: 182,802,313 (GRCm39) |
D525G |
probably benign |
Het |
Usp32 |
G |
T |
11: 84,879,308 (GRCm39) |
T1467N |
probably benign |
Het |
Vmn2r78 |
A |
G |
7: 86,564,569 (GRCm39) |
I5V |
unknown |
Het |
Zbtb43 |
T |
C |
2: 33,344,103 (GRCm39) |
H374R |
probably benign |
Het |
Zfhx4 |
C |
A |
3: 5,308,628 (GRCm39) |
T618K |
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 |
IGL01288:Shld2
|
APN |
14 |
33,981,600 (GRCm39) |
missense |
probably benign |
0.00 |
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 |