Incidental Mutation 'R3904:Shld2'
ID |
309115 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Shld2
|
Ensembl Gene |
ENSMUSG00000041471 |
Gene Name |
shieldin complex subunit 2 |
Synonyms |
3110001K24Rik, Fam35a |
MMRRC Submission |
040812-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.107)
|
Stock # |
R3904 (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 33981666 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tryptophan to Arginine
at position 491
(W491R)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000107548
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000111917]
[ENSMUST00000228704]
|
AlphaFold |
Q3UEN2 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000111917
AA Change: W491R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000107548 Gene: ENSMUSG00000041471 AA Change: W491R
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
|
Meta Mutation Damage Score |
0.6167 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.7%
- 10x: 97.6%
- 20x: 95.9%
|
Validation Efficiency |
100% (39/39) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 38 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1110002E22Rik |
A |
C |
3: 137,772,400 (GRCm39) |
I530L |
probably benign |
Het |
5930422O12Rik |
T |
C |
8: 33,919,467 (GRCm39) |
S96P |
probably damaging |
Het |
Acot4 |
A |
G |
12: 84,090,101 (GRCm39) |
|
probably null |
Het |
Alms1 |
A |
G |
6: 85,598,660 (GRCm39) |
D1631G |
probably benign |
Het |
Amd1 |
C |
T |
10: 40,166,453 (GRCm39) |
R210H |
probably benign |
Het |
Amt |
C |
T |
9: 108,174,420 (GRCm39) |
R62C |
possibly damaging |
Het |
Anapc1 |
A |
G |
2: 128,484,439 (GRCm39) |
F1175S |
probably damaging |
Het |
Ano4 |
A |
G |
10: 88,860,867 (GRCm39) |
F337S |
probably damaging |
Het |
Bub1 |
A |
C |
2: 127,663,862 (GRCm39) |
I207S |
probably benign |
Het |
Cfap53 |
T |
A |
18: 74,440,445 (GRCm39) |
L405M |
probably damaging |
Het |
Col1a2 |
G |
A |
6: 4,518,822 (GRCm39) |
|
probably benign |
Het |
Col6a1 |
C |
T |
10: 76,547,175 (GRCm39) |
R730H |
unknown |
Het |
Esp3 |
A |
T |
17: 40,946,820 (GRCm39) |
T48S |
possibly damaging |
Het |
Fmo1 |
G |
T |
1: 162,661,337 (GRCm39) |
N315K |
possibly damaging |
Het |
Fsip2l |
T |
C |
X: 47,930,421 (GRCm39) |
N649S |
possibly damaging |
Het |
Impg1 |
A |
G |
9: 80,252,867 (GRCm39) |
S438P |
possibly damaging |
Het |
Jsrp1 |
T |
A |
10: 80,648,246 (GRCm39) |
M1L |
probably benign |
Het |
Klra14-ps |
T |
A |
6: 130,129,512 (GRCm39) |
|
noncoding transcript |
Het |
Mrm3 |
A |
G |
11: 76,135,112 (GRCm39) |
M108V |
probably benign |
Het |
Mtf2 |
T |
A |
5: 108,228,866 (GRCm39) |
F61I |
probably damaging |
Het |
Nat10 |
A |
T |
2: 103,556,592 (GRCm39) |
|
probably benign |
Het |
Or2y10 |
T |
C |
11: 49,455,585 (GRCm39) |
I279T |
possibly damaging |
Het |
Or7c70 |
T |
G |
10: 78,683,132 (GRCm39) |
I206L |
probably benign |
Het |
Pcgf5 |
T |
C |
19: 36,417,495 (GRCm39) |
I140T |
probably damaging |
Het |
Pfpl |
T |
C |
19: 12,407,801 (GRCm39) |
L684P |
probably benign |
Het |
Psmd10 |
T |
C |
X: 139,850,052 (GRCm39) |
*152W |
probably null |
Het |
Ptpn23 |
A |
C |
9: 110,218,313 (GRCm39) |
M600R |
probably benign |
Het |
Pxmp4 |
C |
T |
2: 154,429,969 (GRCm39) |
R140H |
probably damaging |
Het |
Rnf112 |
T |
C |
11: 61,341,211 (GRCm39) |
E410G |
probably damaging |
Het |
Samd9l |
T |
A |
6: 3,376,830 (GRCm39) |
K144* |
probably null |
Het |
Slc46a3 |
C |
T |
5: 147,823,264 (GRCm39) |
E193K |
probably benign |
Het |
Snap23 |
A |
C |
2: 120,429,815 (GRCm39) |
D209A |
possibly damaging |
Het |
Tg |
C |
T |
15: 66,638,011 (GRCm39) |
Q656* |
probably null |
Het |
Tshz2 |
A |
G |
2: 169,726,307 (GRCm39) |
Y301C |
probably damaging |
Het |
Ttn |
T |
A |
2: 76,670,638 (GRCm39) |
|
probably benign |
Het |
Unc80 |
C |
T |
1: 66,678,455 (GRCm39) |
Q2011* |
probably null |
Het |
Vwa3a |
A |
G |
7: 120,358,099 (GRCm39) |
T57A |
probably benign |
Het |
Zfp518a |
C |
T |
19: 40,903,364 (GRCm39) |
Q1098* |
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 |
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 |
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'- CATATTTGTCTGCAGACTTACAGTG -3'
(R):5'- GGTCTTTCAGCCTAACAACTTTAG -3'
Sequencing Primer
(F):5'- GCACAGTGTGACATCTCAGTGATTC -3'
(R):5'- AACTTTAGTTGCCTGGTATGTGAG -3'
|
Posted On |
2015-04-17 |