Incidental Mutation 'R7725:Shld2'
| ID |
595462 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Shld2
|
| Ensembl Gene |
ENSMUSG00000041471 |
| Gene Name |
shieldin complex subunit 2 |
| Synonyms |
3110001K24Rik, Fam35a |
| MMRRC Submission |
045781-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.107)
|
| Stock # |
R7725 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
14 |
| Chromosomal Location |
33958990-34032450 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to G
at 33990661 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Proline
at position 82
(T82P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000107548
(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: T82P
PolyPhen 2
Score 0.861 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000107548
Gene: ENSMUSG00000041471
AA Change: T82P
| 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 |
possibly damaging
Transcript: ENSMUST00000227375
AA Change: T82P
PolyPhen 2
Score 0.861 (Sensitivity: 0.83; Specificity: 0.93)
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000228337
AA Change: T82P
PolyPhen 2
Score 0.861 (Sensitivity: 0.83; Specificity: 0.93)
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000228626
AA Change: T82P
PolyPhen 2
Score 0.933 (Sensitivity: 0.80; Specificity: 0.94)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000228704
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.3%
|
| Validation Efficiency |
100% (41/41) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 44 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Anxa2 |
A |
T |
9: 69,387,410 (GRCm39) |
K6N |
unknown |
Het |
| Arhgap20 |
T |
A |
9: 51,743,050 (GRCm39) |
M296K |
possibly damaging |
Het |
| Bdh1 |
G |
A |
16: 31,256,910 (GRCm39) |
V20I |
not run |
Het |
| Bop1 |
A |
G |
15: 76,339,583 (GRCm39) |
I254T |
probably benign |
Het |
| C1ra |
G |
A |
6: 124,494,684 (GRCm39) |
E316K |
probably benign |
Het |
| Cct4 |
A |
G |
11: 22,940,814 (GRCm39) |
K21E |
probably benign |
Het |
| Cercam |
G |
A |
2: 29,762,574 (GRCm39) |
|
probably null |
Het |
| Clip2 |
A |
T |
5: 134,546,853 (GRCm39) |
Y238* |
probably null |
Het |
| Col19a1 |
A |
T |
1: 24,309,525 (GRCm39) |
S1043T |
possibly damaging |
Het |
| Ctcf |
A |
G |
8: 106,390,468 (GRCm39) |
Y25C |
probably damaging |
Het |
| Dennd4c |
C |
T |
4: 86,704,330 (GRCm39) |
R282C |
probably benign |
Het |
| Eef1g |
T |
A |
19: 8,955,427 (GRCm39) |
H425Q |
probably benign |
Het |
| Fam131b |
C |
T |
6: 42,295,476 (GRCm39) |
A234T |
probably benign |
Het |
| Fam184a |
C |
A |
10: 53,509,802 (GRCm39) |
E126* |
probably null |
Het |
| Fam187b |
A |
G |
7: 30,677,139 (GRCm39) |
D216G |
possibly damaging |
Het |
| Gabra1 |
A |
T |
11: 42,026,270 (GRCm39) |
Y341N |
possibly damaging |
Het |
| Glb1l3 |
T |
A |
9: 26,739,659 (GRCm39) |
|
probably null |
Het |
| Gm3667 |
T |
A |
14: 18,271,599 (GRCm39) |
Q52L |
probably damaging |
Het |
| Gpr179 |
C |
T |
11: 97,242,118 (GRCm39) |
R242H |
probably damaging |
Het |
| Gulo |
T |
C |
14: 66,245,522 (GRCm39) |
Y24C |
probably damaging |
Het |
| Hectd4 |
A |
T |
5: 121,358,680 (GRCm39) |
E49V |
unknown |
Het |
| Htra4 |
A |
G |
8: 25,527,169 (GRCm39) |
S209P |
possibly damaging |
Het |
| Lmntd1 |
A |
G |
6: 145,489,196 (GRCm39) |
S22P |
probably benign |
Het |
| Lypd8l |
A |
T |
11: 58,499,325 (GRCm39) |
N164K |
probably benign |
Het |
| Med12l |
A |
G |
3: 59,163,413 (GRCm39) |
K1347E |
probably damaging |
Het |
| Mrc1 |
C |
A |
2: 14,284,788 (GRCm39) |
D592E |
probably benign |
Het |
| Muc15 |
A |
G |
2: 110,562,143 (GRCm39) |
D193G |
probably damaging |
Het |
| Ncor2 |
A |
G |
5: 125,100,630 (GRCm39) |
V1316A |
|
Het |
| Odad1 |
T |
A |
7: 45,597,835 (GRCm39) |
S582T |
probably damaging |
Het |
| Or2t43 |
A |
G |
11: 58,457,593 (GRCm39) |
Y193H |
probably damaging |
Het |
| Or2y10 |
A |
T |
11: 49,455,359 (GRCm39) |
I204L |
probably benign |
Het |
| Or5t16 |
T |
C |
2: 86,819,323 (GRCm39) |
I66V |
probably benign |
Het |
| Serpina6 |
A |
T |
12: 103,614,936 (GRCm39) |
Y303* |
probably null |
Het |
| Shroom3 |
T |
C |
5: 93,089,512 (GRCm39) |
L754P |
probably benign |
Het |
| Skint5 |
C |
A |
4: 113,685,099 (GRCm39) |
L539F |
unknown |
Het |
| St3gal4 |
C |
A |
9: 34,964,375 (GRCm39) |
R209L |
possibly damaging |
Het |
| Tex14 |
A |
C |
11: 87,385,868 (GRCm39) |
T243P |
probably damaging |
Het |
| Ttc12 |
T |
A |
9: 49,351,602 (GRCm39) |
M632L |
probably benign |
Het |
| Ttn |
T |
C |
2: 76,738,116 (GRCm39) |
E4187G |
unknown |
Het |
| Txk |
G |
A |
5: 72,864,900 (GRCm39) |
A379V |
probably damaging |
Het |
| Wdr43 |
A |
G |
17: 71,923,338 (GRCm39) |
Y28C |
probably benign |
Het |
| Zfp1005 |
A |
G |
2: 150,110,468 (GRCm39) |
Y386C |
unknown |
Het |
| Zfp40 |
A |
G |
17: 23,397,251 (GRCm39) |
V82A |
probably benign |
Het |
| Zfp994 |
A |
T |
17: 22,419,091 (GRCm39) |
N619K |
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 |
|
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 |
|
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'- AAGTTCCGAACGCAGGGATC -3'
(R):5'- GGAACAGCTTCCTTAATGTCCAC -3'
Sequencing Primer
(F):5'- AACGCAGGGATCTGACTGATTTTTAG -3'
(R):5'- TTAATGTCCACTGCCAACGC -3'
|
| Posted On |
2019-11-12 |
Incidental Mutation