Incidental Mutation 'R6276:D5Ertd579e'
| ID |
507631 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
D5Ertd579e
|
| Ensembl Gene |
ENSMUSG00000029190 |
| Gene Name |
DNA segment, Chr 5, ERATO Doi 579, expressed |
| Synonyms |
|
| MMRRC Submission |
044446-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.265)
|
| Stock # |
R6276 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
36600485-36696024 bp(-) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 36604514 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Lysine
at position 1336
(N1336K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000031091
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000031091]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000031091
AA Change: N1336K
PolyPhen 2
Score 0.663 (Sensitivity: 0.86; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000031091
Gene: ENSMUSG00000029190
AA Change: N1336K
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DUF4603
|
23 |
1303 |
N/A |
PFAM |
|
low complexity region
|
1365 |
1376 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000132383
|
| SMART Domains |
Protein: ENSMUSP00000116548
Gene: ENSMUSG00000029190
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DUF4603
|
1 |
1181 |
N/A |
PFAM |
|
low complexity region
|
1243 |
1254 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000174019
|
| Meta Mutation Damage Score |
0.0930 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.3%
- 20x: 95.5%
|
| Validation Efficiency |
100% (71/71) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 72 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930504O13Rik |
T |
A |
11: 58,446,366 (GRCm38) |
I94L |
possibly damaging |
Het |
| 4931406P16Rik |
A |
T |
7: 34,242,377 (GRCm38) |
Y627* |
probably null |
Het |
| Actr3 |
A |
T |
1: 125,395,137 (GRCm38) |
D364E |
probably benign |
Het |
| Adra2c |
C |
T |
5: 35,280,079 (GRCm38) |
T65I |
probably damaging |
Het |
| Agap2 |
T |
A |
10: 127,089,360 (GRCm38) |
|
probably null |
Het |
| Ager |
T |
C |
17: 34,598,754 (GRCm38) |
V126A |
possibly damaging |
Het |
| Arhgap39 |
T |
C |
15: 76,737,536 (GRCm38) |
I288M |
probably benign |
Het |
| Arhgap45 |
A |
T |
10: 80,026,234 (GRCm38) |
S541C |
probably benign |
Het |
| Asb4 |
A |
G |
6: 5,431,043 (GRCm38) |
Y426C |
probably damaging |
Het |
| Azi2 |
C |
T |
9: 118,049,338 (GRCm38) |
T82I |
probably damaging |
Het |
| Baz2b |
T |
A |
2: 59,948,223 (GRCm38) |
R764S |
probably damaging |
Het |
| Ccdc146 |
A |
C |
5: 21,301,340 (GRCm38) |
I701S |
probably damaging |
Het |
| Cd55b |
T |
A |
1: 130,418,166 (GRCm38) |
I172F |
probably damaging |
Het |
| Cdk11b |
A |
G |
4: 155,634,190 (GRCm38) |
E199G |
probably benign |
Het |
| Cntnap4 |
A |
T |
8: 112,752,289 (GRCm38) |
T216S |
possibly damaging |
Het |
| Dlg5 |
T |
C |
14: 24,164,568 (GRCm38) |
N649S |
probably damaging |
Het |
| Dmxl1 |
A |
G |
18: 49,846,586 (GRCm38) |
E96G |
probably benign |
Het |
| Dscaml1 |
C |
T |
9: 45,668,160 (GRCm38) |
T335I |
possibly damaging |
Het |
| Epb41l2 |
G |
T |
10: 25,502,124 (GRCm38) |
G695C |
probably damaging |
Het |
| Erbb4 |
C |
T |
1: 68,560,576 (GRCm38) |
R114H |
probably damaging |
Het |
| F2rl1 |
G |
T |
13: 95,513,938 (GRCm38) |
Y145* |
probably null |
Het |
| Fam58b |
T |
C |
11: 78,751,230 (GRCm38) |
K145E |
probably damaging |
Het |
| Fsip2 |
A |
T |
2: 82,980,441 (GRCm38) |
Y2368F |
possibly damaging |
Het |
| Galnt7 |
C |
T |
8: 57,536,578 (GRCm38) |
|
probably null |
Het |
| Gm6811 |
T |
A |
17: 21,093,983 (GRCm38) |
|
noncoding transcript |
Het |
| Gm6811 |
T |
G |
17: 21,094,690 (GRCm38) |
|
noncoding transcript |
Het |
| H2-M1 |
G |
A |
17: 36,671,710 (GRCm38) |
T86M |
possibly damaging |
Het |
| Hk2 |
T |
C |
6: 82,743,366 (GRCm38) |
D170G |
probably benign |
Het |
| Hmcn1 |
C |
T |
1: 150,738,681 (GRCm38) |
A1325T |
possibly damaging |
Het |
| Insrr |
T |
A |
3: 87,800,519 (GRCm38) |
Y89* |
probably null |
Het |
| Itga1 |
T |
C |
13: 114,980,852 (GRCm38) |
E871G |
probably benign |
Het |
| Kat6a |
T |
C |
8: 22,939,405 (GRCm38) |
L1592P |
possibly damaging |
Het |
| Kndc1 |
C |
A |
7: 139,921,063 (GRCm38) |
A756E |
probably benign |
Het |
| Krt12 |
A |
T |
11: 99,421,902 (GRCm38) |
C105* |
probably null |
Het |
| Lama1 |
G |
A |
17: 67,784,088 (GRCm38) |
|
probably null |
Het |
| Lama3 |
A |
G |
18: 12,506,949 (GRCm38) |
N67S |
probably benign |
Het |
| Lrrk1 |
A |
G |
7: 66,306,839 (GRCm38) |
|
probably null |
Het |
| Map2 |
T |
C |
1: 66,399,419 (GRCm38) |
V34A |
probably damaging |
Het |
| Mroh6 |
A |
G |
15: 75,885,700 (GRCm38) |
L487P |
probably damaging |
Het |
| Myo18b |
A |
T |
5: 112,811,642 (GRCm38) |
S1430T |
probably benign |
Het |
| Notch3 |
G |
A |
17: 32,154,749 (GRCm38) |
T495I |
probably benign |
Het |
| Olfr391-ps |
A |
T |
11: 73,799,403 (GRCm38) |
M118K |
probably damaging |
Het |
| Palld |
C |
T |
8: 61,513,423 (GRCm38) |
A980T |
probably damaging |
Het |
| Paxip1 |
A |
T |
5: 27,761,668 (GRCm38) |
I620N |
probably damaging |
Het |
| Pcdha6 |
A |
G |
18: 36,969,767 (GRCm38) |
|
probably null |
Het |
| Pcdhb11 |
G |
A |
18: 37,421,760 (GRCm38) |
V48M |
probably benign |
Het |
| Pcdhga6 |
A |
G |
18: 37,707,644 (GRCm38) |
E139G |
probably benign |
Het |
| Pck1 |
T |
C |
2: 173,157,319 (GRCm38) |
V426A |
probably damaging |
Het |
| Pck2 |
T |
A |
14: 55,542,624 (GRCm38) |
I110N |
probably damaging |
Het |
| Peg10 |
GAT |
GATCAT |
6: 4,756,449 (GRCm38) |
|
probably benign |
Het |
| Phactr3 |
G |
A |
2: 178,279,019 (GRCm38) |
E222K |
probably damaging |
Het |
| Ppip5k1 |
A |
T |
2: 121,323,203 (GRCm38) |
|
probably benign |
Het |
| Prodh2 |
A |
G |
7: 30,506,651 (GRCm38) |
H278R |
probably benign |
Het |
| Rspry1 |
T |
A |
8: 94,623,258 (GRCm38) |
H91Q |
probably damaging |
Het |
| Slc13a2 |
CGTTATCTGT |
CGT |
11: 78,403,480 (GRCm38) |
|
probably benign |
Het |
| Smn1 |
A |
G |
13: 100,127,995 (GRCm38) |
N78S |
possibly damaging |
Het |
| Spta1 |
T |
A |
1: 174,218,512 (GRCm38) |
I1614N |
probably damaging |
Het |
| Syt17 |
T |
C |
7: 118,434,290 (GRCm38) |
D165G |
probably damaging |
Het |
| Tbck |
A |
G |
3: 132,743,005 (GRCm38) |
Y593C |
probably damaging |
Het |
| Tcaf2 |
G |
C |
6: 42,629,753 (GRCm38) |
F422L |
probably benign |
Het |
| Tex15 |
T |
A |
8: 33,577,189 (GRCm38) |
F2216I |
possibly damaging |
Het |
| Trpc4 |
A |
G |
3: 54,318,020 (GRCm38) |
E846G |
probably benign |
Het |
| Ttc41 |
T |
C |
10: 86,744,449 (GRCm38) |
I753T |
probably benign |
Het |
| Vdac1 |
C |
T |
11: 52,376,482 (GRCm38) |
T70M |
possibly damaging |
Het |
| Vmn1r124 |
A |
C |
7: 21,260,179 (GRCm38) |
F147V |
probably benign |
Het |
| Vmn1r220 |
T |
C |
13: 23,184,295 (GRCm38) |
D77G |
probably damaging |
Het |
| Vmn2r28 |
T |
C |
7: 5,490,731 (GRCm38) |
H72R |
probably benign |
Het |
| Vmn2r78 |
A |
T |
7: 86,921,110 (GRCm38) |
I279L |
probably benign |
Het |
| Vmn2r95 |
G |
T |
17: 18,451,470 (GRCm38) |
A490S |
possibly damaging |
Het |
| Wdfy4 |
C |
T |
14: 33,109,525 (GRCm38) |
A915T |
possibly damaging |
Het |
| Zmiz2 |
G |
T |
11: 6,395,604 (GRCm38) |
|
probably null |
Het |
| Zscan2 |
A |
G |
7: 80,875,809 (GRCm38) |
N426S |
probably benign |
Het |
|
| Other mutations in D5Ertd579e |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01433:D5Ertd579e
|
APN |
5 |
36,618,754 (GRCm38) |
missense |
probably damaging |
0.99 |
|
IGL01925:D5Ertd579e
|
APN |
5 |
36,614,284 (GRCm38) |
missense |
possibly damaging |
0.67 |
|
IGL01933:D5Ertd579e
|
APN |
5 |
36,615,756 (GRCm38) |
missense |
probably benign |
|
|
IGL02164:D5Ertd579e
|
APN |
5 |
36,614,959 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL02399:D5Ertd579e
|
APN |
5 |
36,616,185 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL02896:D5Ertd579e
|
APN |
5 |
36,613,982 (GRCm38) |
missense |
possibly damaging |
0.70 |
|
IGL03141:D5Ertd579e
|
APN |
5 |
36,613,277 (GRCm38) |
missense |
possibly damaging |
0.94 |
|
IGL03235:D5Ertd579e
|
APN |
5 |
36,618,828 (GRCm38) |
splice site |
probably benign |
|
|
R0201:D5Ertd579e
|
UTSW |
5 |
36,616,465 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0377:D5Ertd579e
|
UTSW |
5 |
36,604,567 (GRCm38) |
missense |
probably benign |
0.12 |
|
R0830:D5Ertd579e
|
UTSW |
5 |
36,613,757 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0926:D5Ertd579e
|
UTSW |
5 |
36,672,866 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1350:D5Ertd579e
|
UTSW |
5 |
36,613,737 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1448:D5Ertd579e
|
UTSW |
5 |
36,602,739 (GRCm38) |
missense |
probably benign |
|
|
R1672:D5Ertd579e
|
UTSW |
5 |
36,613,277 (GRCm38) |
missense |
possibly damaging |
0.50 |
|
R1676:D5Ertd579e
|
UTSW |
5 |
36,616,109 (GRCm38) |
missense |
probably benign |
0.01 |
|
R1693:D5Ertd579e
|
UTSW |
5 |
36,614,097 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R1698:D5Ertd579e
|
UTSW |
5 |
36,604,530 (GRCm38) |
missense |
probably benign |
|
|
R1868:D5Ertd579e
|
UTSW |
5 |
36,616,427 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R1909:D5Ertd579e
|
UTSW |
5 |
36,614,058 (GRCm38) |
missense |
probably benign |
0.21 |
|
R2034:D5Ertd579e
|
UTSW |
5 |
36,613,538 (GRCm38) |
nonsense |
probably null |
|
|
R2080:D5Ertd579e
|
UTSW |
5 |
36,616,206 (GRCm38) |
missense |
probably benign |
0.01 |
|
R2105:D5Ertd579e
|
UTSW |
5 |
36,613,449 (GRCm38) |
missense |
probably benign |
0.12 |
|
R2197:D5Ertd579e
|
UTSW |
5 |
36,614,793 (GRCm38) |
missense |
possibly damaging |
0.69 |
|
R4212:D5Ertd579e
|
UTSW |
5 |
36,614,479 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R4452:D5Ertd579e
|
UTSW |
5 |
36,616,470 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4626:D5Ertd579e
|
UTSW |
5 |
36,614,559 (GRCm38) |
missense |
possibly damaging |
0.92 |
|
R4804:D5Ertd579e
|
UTSW |
5 |
36,629,652 (GRCm38) |
splice site |
probably null |
|
|
R4898:D5Ertd579e
|
UTSW |
5 |
36,614,941 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R4917:D5Ertd579e
|
UTSW |
5 |
36,615,816 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4960:D5Ertd579e
|
UTSW |
5 |
36,616,227 (GRCm38) |
nonsense |
probably null |
|
|
R4973:D5Ertd579e
|
UTSW |
5 |
36,672,905 (GRCm38) |
missense |
probably benign |
|
|
R5092:D5Ertd579e
|
UTSW |
5 |
36,602,703 (GRCm38) |
missense |
probably benign |
0.18 |
|
R5474:D5Ertd579e
|
UTSW |
5 |
36,615,257 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5475:D5Ertd579e
|
UTSW |
5 |
36,615,257 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5476:D5Ertd579e
|
UTSW |
5 |
36,615,257 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5477:D5Ertd579e
|
UTSW |
5 |
36,615,257 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5801:D5Ertd579e
|
UTSW |
5 |
36,604,569 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6019:D5Ertd579e
|
UTSW |
5 |
36,629,692 (GRCm38) |
missense |
possibly damaging |
0.90 |
|
R6184:D5Ertd579e
|
UTSW |
5 |
36,629,783 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R6213:D5Ertd579e
|
UTSW |
5 |
36,602,634 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6244:D5Ertd579e
|
UTSW |
5 |
36,615,276 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R6285:D5Ertd579e
|
UTSW |
5 |
36,615,577 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6358:D5Ertd579e
|
UTSW |
5 |
36,616,236 (GRCm38) |
splice site |
probably null |
|
|
R6875:D5Ertd579e
|
UTSW |
5 |
36,604,657 (GRCm38) |
splice site |
probably null |
|
|
R6967:D5Ertd579e
|
UTSW |
5 |
36,615,756 (GRCm38) |
missense |
probably benign |
|
|
R7139:D5Ertd579e
|
UTSW |
5 |
36,613,976 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7329:D5Ertd579e
|
UTSW |
5 |
36,616,395 (GRCm38) |
missense |
probably benign |
0.21 |
|
R7464:D5Ertd579e
|
UTSW |
5 |
36,613,785 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R7664:D5Ertd579e
|
UTSW |
5 |
36,614,617 (GRCm38) |
missense |
probably benign |
0.00 |
|
R7762:D5Ertd579e
|
UTSW |
5 |
36,613,381 (GRCm38) |
missense |
|
|
|
R7951:D5Ertd579e
|
UTSW |
5 |
36,615,173 (GRCm38) |
missense |
probably benign |
|
|
R8175:D5Ertd579e
|
UTSW |
5 |
36,615,470 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8217:D5Ertd579e
|
UTSW |
5 |
36,614,058 (GRCm38) |
missense |
probably benign |
0.00 |
|
R8233:D5Ertd579e
|
UTSW |
5 |
36,615,244 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R8281:D5Ertd579e
|
UTSW |
5 |
36,613,320 (GRCm38) |
missense |
|
|
|
R8398:D5Ertd579e
|
UTSW |
5 |
36,614,277 (GRCm38) |
nonsense |
probably null |
|
|
R8673:D5Ertd579e
|
UTSW |
5 |
36,672,807 (GRCm38) |
missense |
probably benign |
0.03 |
|
R8771:D5Ertd579e
|
UTSW |
5 |
36,604,596 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8853:D5Ertd579e
|
UTSW |
5 |
36,629,680 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R9106:D5Ertd579e
|
UTSW |
5 |
36,616,338 (GRCm38) |
missense |
probably benign |
0.39 |
|
R9121:D5Ertd579e
|
UTSW |
5 |
36,615,434 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9413:D5Ertd579e
|
UTSW |
5 |
36,614,934 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9569:D5Ertd579e
|
UTSW |
5 |
36,602,635 (GRCm38) |
missense |
probably damaging |
0.97 |
|
R9715:D5Ertd579e
|
UTSW |
5 |
36,629,685 (GRCm38) |
missense |
possibly damaging |
0.94 |
|
R9723:D5Ertd579e
|
UTSW |
5 |
36,614,940 (GRCm38) |
missense |
probably damaging |
0.99 |
|
RF022:D5Ertd579e
|
UTSW |
5 |
36,614,662 (GRCm38) |
missense |
probably damaging |
1.00 |
|
X0019:D5Ertd579e
|
UTSW |
5 |
36,613,958 (GRCm38) |
missense |
probably damaging |
1.00 |
|
Z1176:D5Ertd579e
|
UTSW |
5 |
36,615,762 (GRCm38) |
missense |
probably benign |
0.00 |
|
Z1189:D5Ertd579e
|
UTSW |
5 |
36,614,906 (GRCm38) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- CCAGCAGTGTAGTGTCAGTG -3'
(R):5'- GGCCTAGCTTTTCAGTGAGG -3'
Sequencing Primer
(F):5'- ACGTTAGGGGCTGTTCATGAAG -3'
(R):5'- CCTAGCTTTTCAGTGAGGTGAAAC -3'
|
| Posted On |
2018-03-15 |
Incidental Mutation