Incidental Mutation 'R5448:Shld2'
ID |
429190 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Shld2
|
Ensembl Gene |
ENSMUSG00000041471 |
Gene Name |
shieldin complex subunit 2 |
Synonyms |
3110001K24Rik, Fam35a |
MMRRC Submission |
043013-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.107)
|
Stock # |
R5448 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
14 |
Chromosomal Location |
33958990-34032450 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to A
at 33990327 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Isoleucine
at position 193
(T193I)
|
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: T193I
PolyPhen 2
Score 0.216 (Sensitivity: 0.91; Specificity: 0.88)
|
SMART Domains |
Protein: ENSMUSP00000107548 Gene: ENSMUSG00000041471 AA Change: T193I
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: T193I
PolyPhen 2
Score 0.325 (Sensitivity: 0.90; Specificity: 0.89)
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000228704
|
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 95.2%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 35 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4930505A04Rik |
C |
T |
11: 30,376,349 (GRCm39) |
V173M |
probably damaging |
Het |
Actn3 |
T |
C |
19: 4,913,239 (GRCm39) |
D699G |
possibly damaging |
Het |
C1galt1 |
C |
T |
6: 7,866,658 (GRCm39) |
A168V |
possibly damaging |
Het |
Ccdc180 |
A |
T |
4: 45,920,913 (GRCm39) |
E953V |
probably damaging |
Het |
Ccdc88b |
T |
A |
19: 6,831,948 (GRCm39) |
D411V |
probably damaging |
Het |
Cdadc1 |
T |
A |
14: 59,811,275 (GRCm39) |
I412L |
possibly damaging |
Het |
Clip2 |
T |
C |
5: 134,542,902 (GRCm39) |
N424D |
probably benign |
Het |
Dnase1l1 |
C |
T |
X: 73,320,644 (GRCm39) |
|
probably null |
Het |
Fbxo38 |
A |
T |
18: 62,655,528 (GRCm39) |
I386N |
possibly damaging |
Het |
Gm9887 |
C |
A |
12: 69,418,865 (GRCm39) |
|
probably benign |
Het |
Itgae |
T |
C |
11: 73,024,734 (GRCm39) |
|
probably null |
Het |
Klhl2 |
C |
A |
8: 65,275,642 (GRCm39) |
|
probably null |
Het |
Krt1 |
T |
A |
15: 101,757,464 (GRCm39) |
K249* |
probably null |
Het |
L3mbtl2 |
T |
C |
15: 81,568,534 (GRCm39) |
Y513H |
possibly damaging |
Het |
Maml2 |
A |
C |
9: 13,617,763 (GRCm39) |
S370R |
probably damaging |
Het |
Or1e35 |
T |
C |
11: 73,797,437 (GRCm39) |
N294D |
probably damaging |
Het |
Or4c112 |
T |
G |
2: 88,853,845 (GRCm39) |
L167F |
probably benign |
Het |
Pcnx2 |
T |
C |
8: 126,614,888 (GRCm39) |
T188A |
probably benign |
Het |
Pde6c |
A |
G |
19: 38,121,623 (GRCm39) |
E77G |
probably damaging |
Het |
Pgr |
A |
G |
9: 8,922,638 (GRCm39) |
I603V |
probably benign |
Het |
Plce1 |
T |
C |
19: 38,768,361 (GRCm39) |
V2212A |
probably damaging |
Het |
Ppl |
C |
T |
16: 4,925,430 (GRCm39) |
A70T |
probably benign |
Het |
Prpf40a |
G |
T |
2: 53,046,938 (GRCm39) |
T266N |
possibly damaging |
Het |
Prrx1 |
T |
C |
1: 163,075,867 (GRCm39) |
E233G |
probably damaging |
Het |
Rdh16f2 |
C |
T |
10: 127,712,932 (GRCm39) |
T310I |
probably benign |
Het |
Rfx6 |
T |
C |
10: 51,559,733 (GRCm39) |
S187P |
probably damaging |
Het |
Scn10a |
A |
T |
9: 119,517,013 (GRCm39) |
F135I |
probably benign |
Het |
Slc24a1 |
A |
G |
9: 64,855,609 (GRCm39) |
F433L |
probably benign |
Het |
Slfn3 |
T |
A |
11: 83,105,431 (GRCm39) |
L476Q |
probably damaging |
Het |
Tmem8b |
G |
A |
4: 43,673,992 (GRCm39) |
V208I |
probably benign |
Het |
Trappc1 |
T |
C |
11: 69,216,361 (GRCm39) |
S136P |
probably benign |
Het |
Tshz3 |
A |
G |
7: 36,470,654 (GRCm39) |
E881G |
possibly damaging |
Het |
Ubash3b |
A |
G |
9: 40,948,731 (GRCm39) |
|
probably null |
Het |
Wdtc1 |
G |
A |
4: 133,021,608 (GRCm39) |
A642V |
probably benign |
Het |
Zdhhc22 |
T |
C |
12: 87,035,341 (GRCm39) |
D37G |
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 |
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 |
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'- AGTTCGTCTGACTCCCTGAC -3'
(R):5'- GGAGTTCAGCATTTACCCGAAG -3'
Sequencing Primer
(F):5'- ACAGTGCTCTTATTTATACAGTCCTG -3'
(R):5'- TCAGCATTTACCCGAAGAAGAAAAAG -3'
|
Posted On |
2016-09-06 |