Incidental Mutation 'R7329:D5Ertd579e'
| ID |
569100 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
D5Ertd579e
|
| Ensembl Gene |
ENSMUSG00000029190 |
| Gene Name |
DNA segment, Chr 5, ERATO Doi 579, expressed |
| Synonyms |
9030221A05Rik, A930018H20Rik |
| MMRRC Submission |
045422-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.307)
|
| Stock # |
R7329 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
36757829-36853368 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 36773739 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Threonine
at position 219
(S219T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000031091
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000031091]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000031091
AA Change: S219T
PolyPhen 2
Score 0.206 (Sensitivity: 0.92; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000031091
Gene: ENSMUSG00000029190
AA Change: S219T
| 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 |
|
| Meta Mutation Damage Score |
0.0621 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.4%
|
| Validation Efficiency |
100% (78/78) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 79 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Actb |
T |
C |
5: 142,890,146 (GRCm39) |
N252S |
probably benign |
Het |
| Adgrb1 |
C |
A |
15: 74,411,094 (GRCm39) |
T330K |
probably damaging |
Het |
| Ahnak |
A |
G |
19: 8,979,156 (GRCm39) |
T147A |
probably damaging |
Het |
| Ankfy1 |
T |
C |
11: 72,603,034 (GRCm39) |
V21A |
probably damaging |
Het |
| Arrdc4 |
T |
A |
7: 68,390,775 (GRCm39) |
N322Y |
probably damaging |
Het |
| Bfsp2 |
C |
A |
9: 103,327,121 (GRCm39) |
E205D |
probably benign |
Het |
| C2cd4b |
T |
A |
9: 67,667,419 (GRCm39) |
S138R |
possibly damaging |
Het |
| Camkk1 |
C |
G |
11: 72,917,873 (GRCm39) |
N147K |
probably damaging |
Het |
| Ckap2l |
T |
A |
2: 129,127,284 (GRCm39) |
Q298L |
possibly damaging |
Het |
| Clstn2 |
G |
T |
9: 97,343,422 (GRCm39) |
A675D |
probably benign |
Het |
| Cntnap2 |
G |
A |
6: 47,248,205 (GRCm39) |
V1204M |
possibly damaging |
Het |
| Col4a1 |
C |
T |
8: 11,276,494 (GRCm39) |
|
probably null |
Het |
| Ctrc |
T |
C |
4: 141,571,022 (GRCm39) |
T73A |
probably benign |
Het |
| Cubn |
A |
G |
2: 13,473,582 (GRCm39) |
F454L |
probably damaging |
Het |
| Cuedc1 |
A |
T |
11: 88,060,692 (GRCm39) |
S12C |
unknown |
Het |
| Cyb561a3 |
G |
T |
19: 10,565,268 (GRCm39) |
G211C |
probably damaging |
Het |
| Dennd4c |
T |
A |
4: 86,759,318 (GRCm39) |
Y1783N |
probably damaging |
Het |
| Dennd4c |
C |
T |
4: 86,698,111 (GRCm39) |
P200S |
possibly damaging |
Het |
| Dnah6 |
G |
A |
6: 73,121,705 (GRCm39) |
Q1426* |
probably null |
Het |
| Dync2h1 |
T |
G |
9: 7,011,247 (GRCm39) |
T3649P |
probably benign |
Het |
| E2f8 |
T |
C |
7: 48,521,858 (GRCm39) |
S415G |
probably damaging |
Het |
| Fbxo22 |
A |
G |
9: 55,122,261 (GRCm39) |
I147V |
probably benign |
Het |
| Gclc |
A |
G |
9: 77,683,473 (GRCm39) |
Y110C |
probably damaging |
Het |
| Gstm5 |
A |
G |
3: 107,803,647 (GRCm39) |
T27A |
possibly damaging |
Het |
| Heatr4 |
A |
G |
12: 84,024,856 (GRCm39) |
S322P |
probably benign |
Het |
| Htt |
T |
A |
5: 34,987,099 (GRCm39) |
I1106N |
probably benign |
Het |
| Hunk |
T |
C |
16: 90,183,570 (GRCm39) |
V76A |
probably benign |
Het |
| Igkv12-98 |
C |
T |
6: 68,548,087 (GRCm39) |
T72I |
possibly damaging |
Het |
| Igkv9-123 |
A |
T |
6: 67,931,629 (GRCm39) |
W16R |
possibly damaging |
Het |
| Ipo7 |
T |
C |
7: 109,648,224 (GRCm39) |
L674S |
possibly damaging |
Het |
| Kcnh6 |
T |
C |
11: 105,908,203 (GRCm39) |
F273S |
probably benign |
Het |
| Lamb3 |
C |
A |
1: 193,002,848 (GRCm39) |
Q98K |
possibly damaging |
Het |
| Lingo4 |
A |
T |
3: 94,310,162 (GRCm39) |
T367S |
probably benign |
Het |
| Lypd6b |
A |
T |
2: 49,832,512 (GRCm39) |
I26F |
probably benign |
Het |
| Maneal |
T |
C |
4: 124,750,512 (GRCm39) |
T415A |
probably benign |
Het |
| Mapk1ip1l |
A |
G |
14: 47,547,920 (GRCm39) |
T23A |
unknown |
Het |
| Mrps17 |
T |
A |
5: 129,793,705 (GRCm39) |
|
probably benign |
Het |
| Mup13 |
T |
G |
4: 61,183,688 (GRCm39) |
D45A |
probably damaging |
Het |
| Mycbpap |
T |
A |
11: 94,400,073 (GRCm39) |
D408V |
probably damaging |
Het |
| Myh10 |
A |
G |
11: 68,701,017 (GRCm39) |
H1742R |
probably benign |
Het |
| Mylk4 |
A |
G |
13: 32,900,766 (GRCm39) |
Y255H |
probably damaging |
Het |
| Nbeal1 |
A |
G |
1: 60,256,355 (GRCm39) |
Q200R |
probably benign |
Het |
| Nkain2 |
TTTACTCGTT |
TTT |
10: 32,765,892 (GRCm39) |
|
probably null |
Het |
| Olfm4 |
T |
C |
14: 80,249,369 (GRCm39) |
V162A |
possibly damaging |
Het |
| Or1j15 |
A |
G |
2: 36,458,708 (GRCm39) |
T33A |
probably benign |
Het |
| Or51a8 |
T |
C |
7: 102,550,039 (GRCm39) |
L155P |
probably damaging |
Het |
| Or5w8 |
T |
C |
2: 87,687,585 (GRCm39) |
V22A |
probably benign |
Het |
| Or8c11 |
C |
A |
9: 38,289,456 (GRCm39) |
T87K |
probably benign |
Het |
| Ovol3 |
T |
A |
7: 29,934,677 (GRCm39) |
R43S |
probably benign |
Het |
| Pcbp1 |
A |
G |
6: 86,502,098 (GRCm39) |
V267A |
probably benign |
Het |
| Phf20 |
T |
A |
2: 156,146,552 (GRCm39) |
V903E |
probably damaging |
Het |
| Pi4k2b |
T |
G |
5: 52,914,211 (GRCm39) |
S316A |
probably benign |
Het |
| Pira1 |
G |
A |
7: 3,742,875 (GRCm39) |
|
probably benign |
Het |
| Pkhd1 |
A |
T |
1: 20,617,743 (GRCm39) |
H947Q |
probably damaging |
Het |
| Ppip5k2 |
A |
C |
1: 97,678,478 (GRCm39) |
|
probably null |
Het |
| Prkca |
T |
A |
11: 107,905,103 (GRCm39) |
T212S |
possibly damaging |
Het |
| Psg16 |
A |
T |
7: 16,824,611 (GRCm39) |
I41F |
possibly damaging |
Het |
| Rae1 |
T |
A |
2: 172,851,238 (GRCm39) |
F204I |
probably benign |
Het |
| Rasef |
T |
A |
4: 73,662,374 (GRCm39) |
N192I |
probably damaging |
Het |
| Rfc1 |
T |
A |
5: 65,420,478 (GRCm39) |
R1122S |
unknown |
Het |
| Rfx2 |
A |
T |
17: 57,110,681 (GRCm39) |
S102T |
probably benign |
Het |
| Sez6l |
A |
G |
5: 112,588,773 (GRCm39) |
Y647H |
probably damaging |
Het |
| Siglecf |
A |
G |
7: 43,001,395 (GRCm39) |
Y121C |
probably damaging |
Het |
| Slc27a5 |
T |
C |
7: 12,725,089 (GRCm39) |
T453A |
possibly damaging |
Het |
| Slc44a2 |
G |
A |
9: 21,254,048 (GRCm39) |
R171Q |
probably damaging |
Het |
| Slc4a9 |
A |
C |
18: 36,673,874 (GRCm39) |
E889A |
possibly damaging |
Het |
| Snx31 |
C |
A |
15: 36,555,621 (GRCm39) |
R13L |
probably benign |
Het |
| Spag6l |
A |
T |
16: 16,584,883 (GRCm39) |
Y422N |
probably benign |
Het |
| Spmip5 |
T |
C |
19: 58,777,654 (GRCm39) |
E52G |
probably damaging |
Het |
| Sulf2 |
T |
C |
2: 165,959,008 (GRCm39) |
T67A |
probably damaging |
Het |
| Syne2 |
G |
A |
12: 76,013,758 (GRCm39) |
R2983Q |
probably benign |
Het |
| Tmtc3 |
A |
G |
10: 100,283,281 (GRCm39) |
I758T |
probably benign |
Het |
| Top2a |
T |
A |
11: 98,895,072 (GRCm39) |
I843L |
possibly damaging |
Het |
| Tph1 |
T |
C |
7: 46,306,285 (GRCm39) |
|
probably null |
Het |
| Trdmt1 |
A |
G |
2: 13,520,933 (GRCm39) |
L323P |
probably damaging |
Het |
| Ush2a |
A |
T |
1: 188,285,395 (GRCm39) |
E1977V |
probably damaging |
Het |
| Utp4 |
A |
G |
8: 107,640,095 (GRCm39) |
E468G |
probably benign |
Het |
| Uts2r |
A |
G |
11: 121,051,558 (GRCm39) |
T141A |
possibly damaging |
Het |
| Vmn1r230 |
A |
G |
17: 21,066,952 (GRCm39) |
Y47C |
probably damaging |
Het |
|
| Other mutations in D5Ertd579e |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01433:D5Ertd579e
|
APN |
5 |
36,776,098 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL01925:D5Ertd579e
|
APN |
5 |
36,771,628 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
IGL01933:D5Ertd579e
|
APN |
5 |
36,773,100 (GRCm39) |
missense |
probably benign |
|
|
IGL02164:D5Ertd579e
|
APN |
5 |
36,772,303 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02399:D5Ertd579e
|
APN |
5 |
36,773,529 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02896:D5Ertd579e
|
APN |
5 |
36,771,326 (GRCm39) |
missense |
possibly damaging |
0.70 |
|
IGL03141:D5Ertd579e
|
APN |
5 |
36,770,621 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
IGL03235:D5Ertd579e
|
APN |
5 |
36,776,172 (GRCm39) |
splice site |
probably benign |
|
|
R0201:D5Ertd579e
|
UTSW |
5 |
36,773,809 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0377:D5Ertd579e
|
UTSW |
5 |
36,761,911 (GRCm39) |
missense |
probably benign |
0.12 |
|
R0830:D5Ertd579e
|
UTSW |
5 |
36,771,101 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0926:D5Ertd579e
|
UTSW |
5 |
36,830,210 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1350:D5Ertd579e
|
UTSW |
5 |
36,771,081 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1448:D5Ertd579e
|
UTSW |
5 |
36,760,083 (GRCm39) |
missense |
probably benign |
|
|
R1672:D5Ertd579e
|
UTSW |
5 |
36,770,621 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
R1676:D5Ertd579e
|
UTSW |
5 |
36,773,453 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1693:D5Ertd579e
|
UTSW |
5 |
36,771,441 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R1698:D5Ertd579e
|
UTSW |
5 |
36,761,874 (GRCm39) |
missense |
probably benign |
|
|
R1868:D5Ertd579e
|
UTSW |
5 |
36,773,771 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1909:D5Ertd579e
|
UTSW |
5 |
36,771,402 (GRCm39) |
missense |
probably benign |
0.21 |
|
R2034:D5Ertd579e
|
UTSW |
5 |
36,770,882 (GRCm39) |
nonsense |
probably null |
|
|
R2080:D5Ertd579e
|
UTSW |
5 |
36,773,550 (GRCm39) |
missense |
probably benign |
0.01 |
|
R2105:D5Ertd579e
|
UTSW |
5 |
36,770,793 (GRCm39) |
missense |
probably benign |
0.12 |
|
R2197:D5Ertd579e
|
UTSW |
5 |
36,772,137 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
R4212:D5Ertd579e
|
UTSW |
5 |
36,771,823 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4452:D5Ertd579e
|
UTSW |
5 |
36,773,814 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4626:D5Ertd579e
|
UTSW |
5 |
36,771,903 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R4804:D5Ertd579e
|
UTSW |
5 |
36,786,996 (GRCm39) |
splice site |
probably null |
|
|
R4898:D5Ertd579e
|
UTSW |
5 |
36,772,285 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4917:D5Ertd579e
|
UTSW |
5 |
36,773,160 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4960:D5Ertd579e
|
UTSW |
5 |
36,773,571 (GRCm39) |
nonsense |
probably null |
|
|
R4973:D5Ertd579e
|
UTSW |
5 |
36,830,249 (GRCm39) |
missense |
probably benign |
|
|
R5092:D5Ertd579e
|
UTSW |
5 |
36,760,047 (GRCm39) |
missense |
probably benign |
0.18 |
|
R5474:D5Ertd579e
|
UTSW |
5 |
36,772,601 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5475:D5Ertd579e
|
UTSW |
5 |
36,772,601 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5476:D5Ertd579e
|
UTSW |
5 |
36,772,601 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5477:D5Ertd579e
|
UTSW |
5 |
36,772,601 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5801:D5Ertd579e
|
UTSW |
5 |
36,761,913 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6019:D5Ertd579e
|
UTSW |
5 |
36,787,036 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R6184:D5Ertd579e
|
UTSW |
5 |
36,787,127 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6213:D5Ertd579e
|
UTSW |
5 |
36,759,978 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6244:D5Ertd579e
|
UTSW |
5 |
36,772,620 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R6276:D5Ertd579e
|
UTSW |
5 |
36,761,858 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
R6285:D5Ertd579e
|
UTSW |
5 |
36,772,921 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6358:D5Ertd579e
|
UTSW |
5 |
36,773,580 (GRCm39) |
splice site |
probably null |
|
|
R6875:D5Ertd579e
|
UTSW |
5 |
36,762,001 (GRCm39) |
splice site |
probably null |
|
|
R6967:D5Ertd579e
|
UTSW |
5 |
36,773,100 (GRCm39) |
missense |
probably benign |
|
|
R7139:D5Ertd579e
|
UTSW |
5 |
36,771,320 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7464:D5Ertd579e
|
UTSW |
5 |
36,771,129 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7664:D5Ertd579e
|
UTSW |
5 |
36,771,961 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7762:D5Ertd579e
|
UTSW |
5 |
36,770,725 (GRCm39) |
missense |
|
|
|
R7951:D5Ertd579e
|
UTSW |
5 |
36,772,517 (GRCm39) |
missense |
probably benign |
|
|
R8175:D5Ertd579e
|
UTSW |
5 |
36,772,814 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8217:D5Ertd579e
|
UTSW |
5 |
36,771,402 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8233:D5Ertd579e
|
UTSW |
5 |
36,772,588 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8281:D5Ertd579e
|
UTSW |
5 |
36,770,664 (GRCm39) |
missense |
|
|
|
R8398:D5Ertd579e
|
UTSW |
5 |
36,771,621 (GRCm39) |
nonsense |
probably null |
|
|
R8673:D5Ertd579e
|
UTSW |
5 |
36,830,151 (GRCm39) |
missense |
probably benign |
0.03 |
|
R8771:D5Ertd579e
|
UTSW |
5 |
36,761,940 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8853:D5Ertd579e
|
UTSW |
5 |
36,787,024 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9106:D5Ertd579e
|
UTSW |
5 |
36,773,682 (GRCm39) |
missense |
probably benign |
0.39 |
|
R9121:D5Ertd579e
|
UTSW |
5 |
36,772,778 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9413:D5Ertd579e
|
UTSW |
5 |
36,772,278 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9569:D5Ertd579e
|
UTSW |
5 |
36,759,979 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R9715:D5Ertd579e
|
UTSW |
5 |
36,787,029 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R9723:D5Ertd579e
|
UTSW |
5 |
36,772,284 (GRCm39) |
missense |
probably damaging |
0.99 |
|
RF022:D5Ertd579e
|
UTSW |
5 |
36,772,006 (GRCm39) |
missense |
probably damaging |
1.00 |
|
X0019:D5Ertd579e
|
UTSW |
5 |
36,771,302 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1176:D5Ertd579e
|
UTSW |
5 |
36,773,106 (GRCm39) |
missense |
probably benign |
0.00 |
|
Z1189:D5Ertd579e
|
UTSW |
5 |
36,772,250 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- AACCTGCTTCACTAGAGCCAG -3'
(R):5'- GTGCCTTGCTTATGAACTCTTG -3'
Sequencing Primer
(F):5'- TGCTTCACTAGAGCCAGATGAC -3'
(R):5'- GCTCTGTTTTGCAGGTACTATGAAGC -3'
|
| Posted On |
2019-09-13 |
Incidental Mutation