Incidental Mutation 'R1602:Shld2'
ID |
176224 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Shld2
|
Ensembl Gene |
ENSMUSG00000041471 |
Gene Name |
shieldin complex subunit 2 |
Synonyms |
3110001K24Rik, Fam35a |
MMRRC Submission |
039639-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.107)
|
Stock # |
R1602 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
14 |
Chromosomal Location |
33958990-34032450 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 33989607 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Threonine
at position 433
(I433T)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000154080
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000111917]
[ENSMUST00000227006]
[ENSMUST00000227375]
[ENSMUST00000228337]
[ENSMUST00000228626]
[ENSMUST00000228704]
|
AlphaFold |
Q3UEN2 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000111917
AA Change: I433T
PolyPhen 2
Score 0.940 (Sensitivity: 0.80; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000107548 Gene: ENSMUSG00000041471 AA Change: I433T
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 damaging
Transcript: ENSMUST00000228626
AA Change: I433T
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000228704
|
Meta Mutation Damage Score |
0.4538 |
Coding Region Coverage |
- 1x: 99.0%
- 3x: 98.1%
- 10x: 95.4%
- 20x: 89.4%
|
Validation Efficiency |
91% (49/54) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 43 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Ankrd12 |
A |
T |
17: 66,290,683 (GRCm39) |
Y1583* |
probably null |
Het |
Ankrd34c |
T |
C |
9: 89,611,058 (GRCm39) |
T428A |
possibly damaging |
Het |
Arfgef1 |
G |
C |
1: 10,275,115 (GRCm39) |
I312M |
probably benign |
Het |
Atr |
T |
C |
9: 95,833,610 (GRCm39) |
L2620P |
probably damaging |
Het |
Ccdc110 |
A |
G |
8: 46,391,955 (GRCm39) |
Y54C |
probably benign |
Het |
Cecr2 |
T |
C |
6: 120,732,548 (GRCm39) |
V480A |
possibly damaging |
Het |
Chfr |
A |
G |
5: 110,299,531 (GRCm39) |
D308G |
probably benign |
Het |
Cit |
T |
A |
5: 116,135,789 (GRCm39) |
I1919N |
probably damaging |
Het |
Ctsc |
T |
A |
7: 87,927,512 (GRCm39) |
D34E |
possibly damaging |
Het |
Diaph3 |
T |
A |
14: 87,328,594 (GRCm39) |
|
probably benign |
Het |
Dnah6 |
T |
A |
6: 73,044,452 (GRCm39) |
I3220F |
probably damaging |
Het |
Eif1ad16 |
C |
A |
12: 87,985,134 (GRCm39) |
E136D |
probably benign |
Het |
Eif4a3l1 |
G |
A |
6: 136,305,778 (GRCm39) |
A80T |
probably damaging |
Het |
Elmod3 |
A |
G |
6: 72,546,242 (GRCm39) |
|
probably null |
Het |
Fgd5 |
T |
C |
6: 92,043,165 (GRCm39) |
V1215A |
possibly damaging |
Het |
Filip1 |
T |
C |
9: 79,727,873 (GRCm39) |
M249V |
probably damaging |
Het |
Fmn1 |
C |
T |
2: 113,355,968 (GRCm39) |
P803L |
unknown |
Het |
Gcfc2 |
A |
G |
6: 81,921,401 (GRCm39) |
K469R |
probably damaging |
Het |
Itgad |
A |
G |
7: 127,790,111 (GRCm39) |
T637A |
probably damaging |
Het |
Kank2 |
T |
C |
9: 21,681,133 (GRCm39) |
S799G |
probably damaging |
Het |
Kcnc4 |
A |
T |
3: 107,355,520 (GRCm39) |
D309E |
possibly damaging |
Het |
Lamc2 |
G |
A |
1: 153,002,774 (GRCm39) |
T1069M |
probably benign |
Het |
Lepr |
T |
A |
4: 101,602,842 (GRCm39) |
M210K |
possibly damaging |
Het |
Lig3 |
T |
C |
11: 82,683,020 (GRCm39) |
|
probably null |
Het |
Oat |
G |
T |
7: 132,171,736 (GRCm39) |
T33K |
probably benign |
Het |
Or2ad1 |
T |
C |
13: 21,326,820 (GRCm39) |
M136V |
probably damaging |
Het |
Or4b1d |
A |
G |
2: 89,969,399 (GRCm39) |
F28S |
probably damaging |
Het |
Or7c70 |
T |
A |
10: 78,682,802 (GRCm39) |
M316L |
probably benign |
Het |
Pcnx3 |
G |
T |
19: 5,722,543 (GRCm39) |
A1383E |
probably damaging |
Het |
Pctp |
T |
C |
11: 89,879,561 (GRCm39) |
Y100C |
probably damaging |
Het |
Pex6 |
G |
T |
17: 47,023,063 (GRCm39) |
R213L |
probably benign |
Het |
Phlpp2 |
T |
C |
8: 110,660,655 (GRCm39) |
L770S |
possibly damaging |
Het |
Pkn2 |
A |
T |
3: 142,559,299 (GRCm39) |
D75E |
possibly damaging |
Het |
Pla2g12b |
T |
C |
10: 59,257,375 (GRCm39) |
|
probably null |
Het |
Plch2 |
C |
T |
4: 155,068,907 (GRCm39) |
V1135I |
probably damaging |
Het |
Pskh1 |
T |
A |
8: 106,639,453 (GRCm39) |
S44R |
probably benign |
Het |
Ptpra |
G |
T |
2: 30,327,602 (GRCm39) |
A119S |
probably benign |
Het |
Slfn3 |
A |
G |
11: 83,103,541 (GRCm39) |
I137M |
probably damaging |
Het |
St6galnac1 |
A |
T |
11: 116,660,113 (GRCm39) |
S67T |
probably benign |
Het |
Timd5 |
T |
C |
11: 46,426,415 (GRCm39) |
I174T |
probably benign |
Het |
Treml1 |
A |
G |
17: 48,671,917 (GRCm39) |
E137G |
probably damaging |
Het |
Ubr2 |
A |
C |
17: 47,251,987 (GRCm39) |
C1518G |
probably benign |
Het |
Vmn2r55 |
A |
T |
7: 12,386,571 (GRCm39) |
C470S |
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 |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- CACATGCTACAGCAGGTCAGTCAC -3'
(R):5'- CCATCAGGTGTCCAAGAAGCCAAG -3'
Sequencing Primer
(F):5'- GTCAGTCACACCCAGGGAAG -3'
(R):5'- GCCAAGGATGGATTCTAATATAAGAG -3'
|
Posted On |
2014-04-24 |