Incidental Mutation 'IGL03226:Shld2'
| ID |
414837 |
| 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 # |
IGL03226
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
14 |
| Chromosomal Location |
33958990-34032450 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 33990328 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 193
(T193A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000154080
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000111917]
[ENSMUST00000227006]
[ENSMUST00000227375]
[ENSMUST00000228337]
[ENSMUST00000228626]
[ENSMUST00000228704]
|
| AlphaFold |
Q3UEN2 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000111917
AA Change: T193A
PolyPhen 2
Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
|
| SMART Domains |
Protein: ENSMUSP00000107548
Gene: ENSMUSG00000041471
AA Change: T193A
| 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: ENSMUST00000227006
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000227375
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000228310
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000228337
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000228626
AA Change: T193A
PolyPhen 2
Score 0.081 (Sensitivity: 0.93; Specificity: 0.85)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000228704
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 34 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 9930012K11Rik |
A |
G |
14: 70,395,058 (GRCm39) |
V32A |
probably damaging |
Het |
| Als2 |
T |
C |
1: 59,225,679 (GRCm39) |
T944A |
probably benign |
Het |
| Bcat2 |
T |
A |
7: 45,237,778 (GRCm39) |
V348E |
probably damaging |
Het |
| Bnip2 |
A |
G |
9: 69,903,456 (GRCm39) |
D36G |
probably benign |
Het |
| C2cd5 |
T |
A |
6: 143,018,292 (GRCm39) |
D310V |
possibly damaging |
Het |
| Cltc |
G |
A |
11: 86,611,113 (GRCm39) |
T582M |
probably damaging |
Het |
| Cplx3 |
A |
T |
9: 57,517,290 (GRCm39) |
Y365N |
probably benign |
Het |
| Dync2h1 |
T |
C |
9: 7,125,918 (GRCm39) |
H1896R |
probably benign |
Het |
| Efcab5 |
T |
C |
11: 77,028,501 (GRCm39) |
R413G |
possibly damaging |
Het |
| Fam131b |
C |
T |
6: 42,295,888 (GRCm39) |
M169I |
possibly damaging |
Het |
| Fam241b |
A |
G |
10: 61,945,671 (GRCm39) |
S52P |
probably benign |
Het |
| Gpd2 |
G |
A |
2: 57,194,498 (GRCm39) |
|
probably null |
Het |
| Gucy1a1 |
T |
A |
3: 82,026,331 (GRCm39) |
Q41L |
probably benign |
Het |
| Ifna16 |
T |
C |
4: 88,594,741 (GRCm39) |
D118G |
probably benign |
Het |
| Kcnn1 |
T |
C |
8: 71,299,135 (GRCm39) |
|
probably benign |
Het |
| Lyl1 |
C |
T |
8: 85,429,300 (GRCm39) |
P3L |
possibly damaging |
Het |
| Lyst |
A |
T |
13: 13,884,144 (GRCm39) |
H2984L |
probably benign |
Het |
| Myh7b |
C |
T |
2: 155,462,403 (GRCm39) |
Q369* |
probably null |
Het |
| Nalcn |
A |
C |
14: 123,518,527 (GRCm39) |
W1671G |
probably benign |
Het |
| Ndrg2 |
G |
A |
14: 52,144,026 (GRCm39) |
|
probably benign |
Het |
| Nfia |
C |
A |
4: 97,951,286 (GRCm39) |
P371Q |
probably damaging |
Het |
| Or10d5 |
A |
C |
9: 39,861,719 (GRCm39) |
|
probably null |
Het |
| Pcdhb22 |
A |
G |
18: 37,652,009 (GRCm39) |
D159G |
probably damaging |
Het |
| Plekhm3 |
A |
T |
1: 64,960,959 (GRCm39) |
D432E |
possibly damaging |
Het |
| Pramel17 |
T |
A |
4: 101,692,594 (GRCm39) |
T469S |
probably benign |
Het |
| Rab2a |
A |
G |
4: 8,606,448 (GRCm39) |
N195S |
probably benign |
Het |
| Sbf1 |
A |
G |
15: 89,173,308 (GRCm39) |
Y1764H |
possibly damaging |
Het |
| Scap |
A |
G |
9: 110,213,335 (GRCm39) |
T1127A |
possibly damaging |
Het |
| Slc45a2 |
A |
G |
15: 11,022,278 (GRCm39) |
D340G |
probably damaging |
Het |
| Tbc1d23 |
A |
T |
16: 57,034,625 (GRCm39) |
L58Q |
probably damaging |
Het |
| Tmcc1 |
T |
C |
6: 116,110,937 (GRCm39) |
T119A |
probably damaging |
Het |
| Tnfsf10 |
C |
A |
3: 27,389,597 (GRCm39) |
Y219* |
probably null |
Het |
| Traip |
G |
A |
9: 107,848,192 (GRCm39) |
R437Q |
probably damaging |
Het |
| Tyw3 |
T |
C |
3: 154,293,187 (GRCm39) |
T163A |
possibly 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 |
|
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 |
|
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 |
Incidental Mutation