Incidental Mutation 'R7139:D5Ertd579e'
| ID |
553254 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
D5Ertd579e
|
| Ensembl Gene |
ENSMUSG00000029190 |
| Gene Name |
DNA segment, Chr 5, ERATO Doi 579, expressed |
| Synonyms |
9030221A05Rik, A930018H20Rik |
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.317)
|
| Stock # |
R7139 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
5 |
| Chromosomal Location |
36757829-36853368 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 36771320 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Proline
at position 1025
(L1025P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000031091
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000031091]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000031091
AA Change: L1025P
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000031091
Gene: ENSMUSG00000029190
AA Change: L1025P
| 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 |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.1%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 79 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2510039O18Rik |
A |
G |
4: 148,026,295 (GRCm39) |
R272G |
possibly damaging |
Het |
| 4930512M02Rik |
T |
A |
11: 11,540,078 (GRCm39) |
N179Y |
unknown |
Het |
| 4930562C15Rik |
A |
T |
16: 4,668,048 (GRCm39) |
M480L |
probably benign |
Het |
| Abcd4 |
A |
G |
12: 84,653,072 (GRCm39) |
C377R |
probably benign |
Het |
| Adam23 |
C |
A |
1: 63,584,736 (GRCm39) |
D381E |
probably damaging |
Het |
| Angpt1 |
T |
A |
15: 42,539,747 (GRCm39) |
Q37H |
probably damaging |
Het |
| Apeh |
A |
T |
9: 107,969,345 (GRCm39) |
F260I |
probably damaging |
Het |
| Cadps2 |
T |
C |
6: 23,410,888 (GRCm39) |
Y681C |
probably damaging |
Het |
| Ccdc162 |
T |
C |
10: 41,542,717 (GRCm39) |
M386V |
possibly damaging |
Het |
| Celsr2 |
T |
C |
3: 108,322,675 (GRCm39) |
S46G |
unknown |
Het |
| Cfc1 |
T |
C |
1: 34,575,560 (GRCm39) |
L78P |
probably benign |
Het |
| Chd7 |
T |
C |
4: 8,865,865 (GRCm39) |
V2724A |
probably benign |
Het |
| Clca3a1 |
A |
T |
3: 144,461,063 (GRCm39) |
V196E |
possibly damaging |
Het |
| Cma1 |
T |
C |
14: 56,181,273 (GRCm39) |
H44R |
probably damaging |
Het |
| Cnot2 |
T |
C |
10: 116,330,924 (GRCm39) |
N394S |
probably benign |
Het |
| Cplx3 |
A |
T |
9: 57,522,879 (GRCm39) |
H160Q |
probably benign |
Het |
| Cstf3 |
A |
T |
2: 104,483,409 (GRCm39) |
I372F |
possibly damaging |
Het |
| Cyb5rl |
A |
C |
4: 106,928,208 (GRCm39) |
I115L |
probably benign |
Het |
| Dmtn |
T |
C |
14: 70,854,867 (GRCm39) |
N36S |
probably benign |
Het |
| Dnah6 |
A |
G |
6: 73,112,663 (GRCm39) |
V1647A |
probably damaging |
Het |
| Dock6 |
T |
C |
9: 21,712,572 (GRCm39) |
Y2063C |
probably damaging |
Het |
| Dst |
T |
A |
1: 34,338,888 (GRCm39) |
D5149E |
probably damaging |
Het |
| Fancl |
A |
G |
11: 26,353,358 (GRCm39) |
M85V |
probably benign |
Het |
| Fgd2 |
T |
A |
17: 29,592,229 (GRCm39) |
F387Y |
probably damaging |
Het |
| Fshr |
A |
T |
17: 89,293,589 (GRCm39) |
I363N |
possibly damaging |
Het |
| Glce |
G |
T |
9: 61,977,716 (GRCm39) |
S56* |
probably null |
Het |
| Gm26727 |
A |
T |
2: 67,263,381 (GRCm39) |
S49T |
unknown |
Het |
| Gm36210 |
T |
A |
7: 4,902,277 (GRCm39) |
D131V |
probably damaging |
Het |
| Gm5089 |
T |
C |
14: 122,673,403 (GRCm39) |
D106G |
unknown |
Het |
| Gm5622 |
G |
T |
14: 51,893,339 (GRCm39) |
E89* |
probably null |
Het |
| H2-Eb2 |
C |
T |
17: 34,553,395 (GRCm39) |
R194W |
probably benign |
Het |
| Hivep1 |
A |
T |
13: 42,313,430 (GRCm39) |
E1890V |
probably benign |
Het |
| Ighv1-53 |
A |
T |
12: 115,122,441 (GRCm39) |
C5* |
probably null |
Het |
| Ighv2-5 |
T |
A |
12: 113,649,219 (GRCm39) |
Y78F |
probably benign |
Het |
| Il9 |
C |
T |
13: 56,628,426 (GRCm39) |
V88I |
probably benign |
Het |
| Kidins220 |
A |
G |
12: 25,044,820 (GRCm39) |
T163A |
probably damaging |
Het |
| Lama4 |
G |
T |
10: 38,951,491 (GRCm39) |
D1079Y |
probably damaging |
Het |
| Lrrc34 |
T |
C |
3: 30,679,036 (GRCm39) |
I354V |
probably benign |
Het |
| Macroh2a2 |
T |
A |
10: 61,593,674 (GRCm39) |
M1L |
unknown |
Het |
| Mpeg1 |
A |
T |
19: 12,439,078 (GRCm39) |
T179S |
probably benign |
Het |
| Mrgpra2a |
A |
T |
7: 47,076,337 (GRCm39) |
L307H |
probably damaging |
Het |
| Mst1 |
G |
A |
9: 107,960,027 (GRCm39) |
R328H |
probably damaging |
Het |
| Muc21 |
TCCTGAGGCAGTGCTGGATACAGGGGTGGTTGGGGTGGGTGAAGAGCCTGAGGCAGTGCTGGAT |
TCCTGAGGCAGTGCTGGAT |
17: 35,933,525 (GRCm39) |
|
probably benign |
Het |
| Nav3 |
C |
A |
10: 109,689,338 (GRCm39) |
S313I |
probably benign |
Het |
| Nmt2 |
T |
G |
2: 3,285,352 (GRCm39) |
S7A |
probably benign |
Het |
| Nsmce1 |
T |
C |
7: 125,068,254 (GRCm39) |
S197G |
probably benign |
Het |
| Ociad2 |
A |
G |
5: 73,493,218 (GRCm39) |
V4A |
probably benign |
Het |
| Or56a41 |
G |
T |
7: 104,742,005 (GRCm39) |
T7K |
probably benign |
Het |
| Osmr |
T |
C |
15: 6,850,569 (GRCm39) |
D679G |
possibly damaging |
Het |
| Pappa |
T |
A |
4: 65,107,687 (GRCm39) |
F699L |
probably benign |
Het |
| Parp8 |
T |
A |
13: 117,161,802 (GRCm39) |
M40L |
probably benign |
Het |
| Pcyox1 |
A |
T |
6: 86,371,519 (GRCm39) |
N122K |
possibly damaging |
Het |
| Pkd1l1 |
T |
C |
11: 8,840,737 (GRCm39) |
S1224G |
|
Het |
| Pkd1l3 |
T |
A |
8: 110,362,972 (GRCm39) |
S1088T |
probably damaging |
Het |
| Prrt1 |
T |
C |
17: 34,850,051 (GRCm39) |
V155A |
probably benign |
Het |
| Rbm6 |
A |
C |
9: 107,730,410 (GRCm39) |
D79E |
probably damaging |
Het |
| Sec31b |
A |
T |
19: 44,507,375 (GRCm39) |
S819T |
probably benign |
Het |
| Slc22a27 |
A |
T |
19: 7,903,912 (GRCm39) |
I75N |
probably damaging |
Het |
| Slc25a54 |
G |
A |
3: 109,005,905 (GRCm39) |
G138R |
probably damaging |
Het |
| Slc6a12 |
T |
C |
6: 121,342,278 (GRCm39) |
S612P |
probably benign |
Het |
| Slc7a2 |
A |
T |
8: 41,368,050 (GRCm39) |
I605F |
probably benign |
Het |
| Slit2 |
A |
G |
5: 48,402,025 (GRCm39) |
T805A |
probably benign |
Het |
| Strbp |
A |
T |
2: 37,514,514 (GRCm39) |
H308Q |
probably benign |
Het |
| Stxbp4 |
G |
A |
11: 90,497,835 (GRCm39) |
Q155* |
probably null |
Het |
| Sybu |
A |
T |
15: 44,541,110 (GRCm39) |
N317K |
possibly damaging |
Het |
| Taok1 |
G |
A |
11: 77,462,459 (GRCm39) |
S210F |
probably damaging |
Het |
| Tapbp |
A |
G |
17: 34,139,022 (GRCm39) |
D72G |
possibly damaging |
Het |
| Thbd |
G |
T |
2: 148,248,461 (GRCm39) |
T469K |
probably benign |
Het |
| Tia1 |
T |
C |
6: 86,404,670 (GRCm39) |
Y302H |
possibly damaging |
Het |
| Tlr4 |
T |
C |
4: 66,758,520 (GRCm39) |
F438L |
probably benign |
Het |
| Tmem235 |
C |
T |
11: 117,751,723 (GRCm39) |
S49L |
probably damaging |
Het |
| Trip4 |
A |
G |
9: 65,792,503 (GRCm39) |
|
probably benign |
Het |
| Trrap |
C |
A |
5: 144,739,988 (GRCm39) |
L1137I |
possibly damaging |
Het |
| Vmo1 |
T |
C |
11: 70,404,674 (GRCm39) |
E109G |
probably benign |
Het |
| Wdfy4 |
T |
C |
14: 32,873,535 (GRCm39) |
Y258C |
|
Het |
| Wdr91 |
T |
G |
6: 34,885,198 (GRCm39) |
N121T |
possibly damaging |
Het |
| Zfp39 |
T |
C |
11: 58,781,385 (GRCm39) |
H459R |
probably damaging |
Het |
| Zfp936 |
T |
A |
7: 42,839,715 (GRCm39) |
I394K |
possibly damaging |
Het |
| Zpr1 |
G |
A |
9: 46,192,357 (GRCm39) |
D423N |
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 |
|
|
R7329:D5Ertd579e
|
UTSW |
5 |
36,773,739 (GRCm39) |
missense |
probably benign |
0.21 |
|
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'- ACCTCACTGTCTGAATCAGAGC -3'
(R):5'- CTGGTCACACAAAAGGGAGC -3'
Sequencing Primer
(F):5'- CTCACTGTCTGAATCAGAGCAGAGG -3'
(R):5'- CTACAGTGTGCAGCCTCTGATG -3'
|
| Posted On |
2019-05-15 |
Incidental Mutation