Incidental Mutation 'R7755:Shld2'
| ID |
597520 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Shld2
|
| Ensembl Gene |
ENSMUSG00000041471 |
| Gene Name |
shieldin complex subunit 2 |
| Synonyms |
3110001K24Rik, Fam35a |
| MMRRC Submission |
045811-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.107)
|
| Stock # |
R7755 (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 C
at 33970847 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Glutamic Acid
at position 627
(K627E)
|
| 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: K627E
PolyPhen 2
Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000107548
Gene: ENSMUSG00000041471
AA Change: K627E
| 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 damaging
Transcript: ENSMUST00000228704
AA Change: K75E
PolyPhen 2
Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.1%
|
| Validation Efficiency |
98% (52/53) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 54 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2700049A03Rik |
G |
A |
12: 71,236,187 (GRCm39) |
M1179I |
probably benign |
Het |
| 4930402F06Rik |
T |
C |
2: 35,266,349 (GRCm39) |
Y107C |
probably damaging |
Het |
| Aff4 |
T |
C |
11: 53,289,206 (GRCm39) |
S452P |
probably damaging |
Het |
| Astn2 |
T |
C |
4: 65,712,795 (GRCm39) |
D615G |
probably damaging |
Het |
| Begain |
A |
G |
12: 109,018,802 (GRCm39) |
L215P |
probably benign |
Het |
| Carf |
T |
A |
1: 60,187,214 (GRCm39) |
S606T |
probably benign |
Het |
| Cngb3 |
A |
T |
4: 19,461,684 (GRCm39) |
T522S |
probably benign |
Het |
| Ctsll3 |
A |
T |
13: 60,948,219 (GRCm39) |
F153I |
probably damaging |
Het |
| Cubn |
G |
A |
2: 13,284,889 (GRCm39) |
T3509I |
probably benign |
Het |
| Dmrta1 |
T |
C |
4: 89,580,170 (GRCm39) |
S377P |
probably benign |
Het |
| Dnmbp |
G |
A |
19: 43,838,525 (GRCm39) |
A659V |
probably benign |
Het |
| Dspp |
TGACAGCAGTGACAGCAGCGACAGCAGCGACAGCAGTGACAGCAGCGACAGCAGCGACAGCAGTGACAGCAGCGACAGCAGCAACAGCAGTGACAGCAG |
TGACAGCAGTGACAGCAGCGACAGCAGCGACAGCAGTGACAGCAGCGACAGCAGCAACAGCAGTGACAGCAG |
5: 104,326,227 (GRCm39) |
|
probably benign |
Het |
| Dync2h1 |
T |
C |
9: 7,015,490 (GRCm39) |
D3598G |
probably benign |
Het |
| Elp1 |
T |
C |
4: 56,774,552 (GRCm39) |
N779S |
possibly damaging |
Het |
| Flot2 |
T |
C |
11: 77,940,339 (GRCm39) |
F29L |
probably benign |
Het |
| Hectd1 |
A |
T |
12: 51,849,003 (GRCm39) |
I367K |
possibly damaging |
Het |
| Ivl |
T |
A |
3: 92,479,317 (GRCm39) |
K249N |
probably damaging |
Het |
| Khnyn |
A |
G |
14: 56,125,425 (GRCm39) |
T503A |
probably damaging |
Het |
| Mbd4 |
T |
A |
6: 115,821,546 (GRCm39) |
I490F |
probably damaging |
Het |
| Mlip |
T |
C |
9: 77,136,838 (GRCm39) |
T690A |
probably benign |
Het |
| Mmp1a |
T |
A |
9: 7,467,005 (GRCm39) |
D227E |
possibly damaging |
Het |
| Mrgprf |
T |
C |
7: 144,862,380 (GRCm39) |
L314P |
probably damaging |
Het |
| Ndufb9 |
T |
G |
15: 58,808,255 (GRCm39) |
Y80* |
probably null |
Het |
| Neto2 |
C |
T |
8: 86,396,285 (GRCm39) |
R155H |
probably damaging |
Het |
| Npat |
T |
A |
9: 53,470,470 (GRCm39) |
N365K |
possibly damaging |
Het |
| Nsl1 |
G |
A |
1: 190,795,380 (GRCm39) |
V49M |
probably benign |
Het |
| Nudt21 |
T |
A |
8: 94,749,493 (GRCm39) |
Y191F |
probably benign |
Het |
| Or2w25 |
A |
G |
11: 59,504,467 (GRCm39) |
R226G |
probably damaging |
Het |
| Or8b54 |
T |
G |
9: 38,687,073 (GRCm39) |
I174S |
possibly damaging |
Het |
| Pcdh18 |
T |
C |
3: 49,709,278 (GRCm39) |
Y679C |
possibly damaging |
Het |
| Pkd1l3 |
A |
G |
8: 110,356,798 (GRCm39) |
D741G |
possibly damaging |
Het |
| Pkhd1 |
T |
C |
1: 20,617,717 (GRCm39) |
D956G |
probably damaging |
Het |
| Poglut2 |
T |
C |
1: 44,157,733 (GRCm39) |
|
probably benign |
Het |
| Pparg |
C |
T |
6: 115,440,067 (GRCm39) |
P214S |
probably damaging |
Het |
| Ppargc1a |
T |
A |
5: 51,630,883 (GRCm39) |
Y582F |
unknown |
Het |
| Prdm9 |
C |
T |
17: 15,765,226 (GRCm39) |
C518Y |
probably damaging |
Het |
| Rangrf |
T |
A |
11: 68,864,540 (GRCm39) |
E2V |
probably damaging |
Het |
| Rpl19 |
T |
C |
11: 97,919,193 (GRCm39) |
I45T |
probably benign |
Het |
| Rtn4rl2 |
T |
C |
2: 84,702,807 (GRCm39) |
D255G |
possibly damaging |
Het |
| Sirt3 |
T |
C |
7: 140,457,963 (GRCm39) |
D62G |
|
Het |
| Slc22a30 |
T |
C |
19: 8,314,133 (GRCm39) |
T518A |
probably damaging |
Het |
| Slc40a1 |
T |
C |
1: 45,950,466 (GRCm39) |
T329A |
probably damaging |
Het |
| Slc6a17 |
C |
T |
3: 107,381,671 (GRCm39) |
G470D |
probably damaging |
Het |
| Syne2 |
A |
T |
12: 76,044,181 (GRCm39) |
I3923L |
probably benign |
Het |
| Tiam2 |
C |
T |
17: 3,471,591 (GRCm39) |
S411L |
probably benign |
Het |
| Ticam1 |
A |
G |
17: 56,577,182 (GRCm39) |
C638R |
unknown |
Het |
| Tnrc6c |
A |
G |
11: 117,648,912 (GRCm39) |
T1528A |
probably benign |
Het |
| Ufl1 |
A |
G |
4: 25,262,274 (GRCm39) |
I404T |
probably benign |
Het |
| Usp43 |
A |
T |
11: 67,782,294 (GRCm39) |
S375T |
possibly damaging |
Het |
| Vmn2r88 |
C |
G |
14: 51,650,503 (GRCm39) |
A72G |
probably benign |
Het |
| Vmn2r91 |
A |
T |
17: 18,330,311 (GRCm39) |
I532F |
possibly damaging |
Het |
| Vmn2r95 |
T |
C |
17: 18,644,367 (GRCm39) |
M1T |
probably null |
Het |
| Xirp2 |
T |
C |
2: 67,345,526 (GRCm39) |
V2589A |
probably benign |
Het |
| Zfp128 |
C |
T |
7: 12,624,240 (GRCm39) |
Q203* |
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 |
|
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 |
|
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'- AAGGCCTTCTAGATAACTAAATTGC -3'
(R):5'- GTTACCATGATGCATTTACCATGAG -3'
Sequencing Primer
(F):5'- TGCAAGTATAAAATTATGGCAAGAGC -3'
(R):5'- AGGTACTGTGGTCTCTCCCAAG -3'
|
| Posted On |
2019-11-26 |
Incidental Mutation