Incidental Mutation 'R1348:Shld2'
| ID |
156577 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Shld2
|
| Ensembl Gene |
ENSMUSG00000041471 |
| Gene Name |
shieldin complex subunit 2 |
| Synonyms |
3110001K24Rik, Fam35a |
| MMRRC Submission |
039413-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.106)
|
| Stock # |
R1348 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
14 |
| Chromosomal Location |
33958990-34032450 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 33990880 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Phenylalanine
at position 9
(I9F)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000154080
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000111917]
[ENSMUST00000227006]
[ENSMUST00000227375]
[ENSMUST00000228337]
[ENSMUST00000228626]
[ENSMUST00000228704]
|
| AlphaFold |
Q3UEN2 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000111917
AA Change: I9F
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000107548
Gene: ENSMUSG00000041471
AA Change: I9F
| 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 |
possibly damaging
Transcript: ENSMUST00000227006
AA Change: I9F
PolyPhen 2
Score 0.915 (Sensitivity: 0.81; Specificity: 0.94)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000227375
AA Change: I9F
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000228132
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000228337
AA Change: I9F
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000228626
AA Change: I9F
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000228704
|
| Coding Region Coverage |
- 1x: 98.8%
- 3x: 97.6%
- 10x: 94.2%
- 20x: 87.2%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 30 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca3 |
A |
G |
17: 24,593,212 (GRCm39) |
|
probably null |
Het |
| Art1 |
G |
A |
7: 101,756,579 (GRCm39) |
A33T |
possibly damaging |
Het |
| Aspa |
G |
A |
11: 73,215,309 (GRCm39) |
T2I |
probably damaging |
Het |
| Cntn1 |
C |
T |
15: 92,212,544 (GRCm39) |
T902I |
probably damaging |
Het |
| Dpep1 |
G |
A |
8: 123,925,899 (GRCm39) |
C118Y |
probably benign |
Het |
| Garin1a |
A |
G |
6: 29,283,284 (GRCm39) |
H36R |
probably benign |
Het |
| Gucy2g |
C |
T |
19: 55,211,338 (GRCm39) |
V631I |
possibly damaging |
Het |
| Igf1r |
C |
G |
7: 67,868,216 (GRCm39) |
N1220K |
probably damaging |
Het |
| Insr |
A |
T |
8: 3,242,635 (GRCm39) |
I28N |
probably damaging |
Het |
| Katnal2 |
T |
C |
18: 77,066,238 (GRCm39) |
|
probably null |
Het |
| Klrb1a |
T |
C |
6: 128,586,797 (GRCm39) |
D156G |
possibly damaging |
Het |
| Kpna6 |
G |
A |
4: 129,555,152 (GRCm39) |
R26* |
probably null |
Het |
| Muc2 |
CGTG |
CGTGTG |
7: 141,699,185 (GRCm38) |
|
probably null |
Het |
| Naa15 |
C |
G |
3: 51,373,091 (GRCm39) |
C661W |
probably damaging |
Het |
| Or10g7 |
T |
C |
9: 39,905,124 (GRCm39) |
I6T |
probably benign |
Het |
| Or1e1 |
G |
T |
11: 73,244,682 (GRCm39) |
M34I |
probably benign |
Het |
| Or8g20 |
A |
G |
9: 39,396,532 (GRCm39) |
S3P |
probably benign |
Het |
| Paxbp1 |
A |
G |
16: 90,831,904 (GRCm39) |
V328A |
probably damaging |
Het |
| Pkd1l1 |
T |
C |
11: 8,784,806 (GRCm39) |
T1993A |
probably benign |
Het |
| Pold1 |
C |
T |
7: 44,184,106 (GRCm39) |
V865I |
probably benign |
Het |
| Racgap1 |
A |
G |
15: 99,524,246 (GRCm39) |
I387T |
possibly damaging |
Het |
| Rbm15 |
G |
T |
3: 107,239,946 (GRCm39) |
R151S |
possibly damaging |
Het |
| Rbms2 |
C |
T |
10: 128,012,214 (GRCm39) |
|
probably null |
Het |
| Recql4 |
A |
G |
15: 76,593,411 (GRCm39) |
I140T |
probably benign |
Het |
| Sorl1 |
A |
T |
9: 41,911,708 (GRCm39) |
|
probably null |
Het |
| Speg |
G |
A |
1: 75,399,516 (GRCm39) |
G2321D |
probably damaging |
Het |
| Trp53tg5 |
A |
G |
2: 164,315,521 (GRCm39) |
|
probably null |
Het |
| Tyw3 |
A |
C |
3: 154,299,451 (GRCm39) |
M86R |
possibly damaging |
Het |
| Vmn1r11 |
G |
A |
6: 57,114,963 (GRCm39) |
C209Y |
probably benign |
Het |
| Zfp472 |
T |
A |
17: 33,196,794 (GRCm39) |
F290I |
probably benign |
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- CCAAGACCTTTGGGGACTTGACAG -3'
(R):5'- CTTTACATGGGGCAGGACTTACAGC -3'
Sequencing Primer
(F):5'- GGGACTTGACAGTCTTCCAG -3'
(R):5'- tcactcctctccttctaccc -3'
|
| Posted On |
2014-02-11 |
Incidental Mutation