Incidental Mutation 'IGL01933:D5Ertd579e'
| ID |
180491 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| 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: 0.307)
|
| Stock # |
IGL01933
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
5 |
| Chromosomal Location |
36757829-36853368 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 36773100 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 432
(T432A)
|
| 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: T432A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000031091
Gene: ENSMUSG00000029190
AA Change: T432A
| 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: ENSMUST00000140063
|
| SMART Domains |
Protein: ENSMUSP00000118804
Gene: ENSMUSG00000029190
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DUF4603
|
23 |
77 |
1e-37 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000150088
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000174019
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000201187
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 61 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700017B05Rik |
C |
A |
9: 57,164,650 (GRCm39) |
V575F |
possibly damaging |
Het |
| Abca2 |
T |
A |
2: 25,334,123 (GRCm39) |
V1800E |
probably damaging |
Het |
| Acacb |
C |
T |
5: 114,322,251 (GRCm39) |
|
probably benign |
Het |
| Adam34 |
C |
A |
8: 44,104,569 (GRCm39) |
G359W |
probably damaging |
Het |
| Ankrd42 |
G |
A |
7: 92,254,493 (GRCm39) |
T372I |
probably benign |
Het |
| Apc2 |
A |
G |
10: 80,147,574 (GRCm39) |
D847G |
probably damaging |
Het |
| Arap3 |
T |
A |
18: 38,111,506 (GRCm39) |
T1137S |
possibly damaging |
Het |
| Atp10b |
A |
C |
11: 43,085,457 (GRCm39) |
T279P |
probably damaging |
Het |
| Bmp2 |
T |
A |
2: 133,396,578 (GRCm39) |
M78K |
possibly damaging |
Het |
| Ccdc61 |
T |
G |
7: 18,626,483 (GRCm39) |
M369L |
probably benign |
Het |
| Cep78 |
A |
T |
19: 15,933,304 (GRCm39) |
I758N |
probably benign |
Het |
| Ces2a |
A |
G |
8: 105,468,047 (GRCm39) |
*526W |
probably null |
Het |
| Cgnl1 |
C |
T |
9: 71,552,765 (GRCm39) |
|
probably benign |
Het |
| Clec14a |
A |
G |
12: 58,315,104 (GRCm39) |
Y173H |
probably damaging |
Het |
| Cntn4 |
G |
A |
6: 106,671,345 (GRCm39) |
S976N |
probably damaging |
Het |
| Col6a4 |
G |
A |
9: 105,937,313 (GRCm39) |
T1401I |
probably benign |
Het |
| Dixdc1 |
G |
A |
9: 50,614,558 (GRCm39) |
R163* |
probably null |
Het |
| Dmxl1 |
C |
A |
18: 50,010,852 (GRCm39) |
T1003K |
probably benign |
Het |
| Dnah1 |
G |
A |
14: 31,032,872 (GRCm39) |
R388W |
probably benign |
Het |
| Eci3 |
C |
T |
13: 35,132,772 (GRCm39) |
A202T |
probably damaging |
Het |
| Egr2 |
T |
C |
10: 67,376,024 (GRCm39) |
S220P |
probably damaging |
Het |
| Fntb |
C |
T |
12: 76,966,880 (GRCm39) |
P405S |
probably benign |
Het |
| Gm10718 |
A |
T |
9: 3,025,118 (GRCm39) |
Y194F |
probably benign |
Het |
| Gm26602 |
C |
A |
10: 79,746,955 (GRCm39) |
R236L |
probably benign |
Het |
| Hao2 |
T |
C |
3: 98,787,648 (GRCm39) |
|
probably benign |
Het |
| Irgm2 |
A |
T |
11: 58,110,783 (GRCm39) |
N170I |
possibly damaging |
Het |
| Klhl20 |
G |
A |
1: 160,934,357 (GRCm39) |
R221W |
probably damaging |
Het |
| Kmt2b |
A |
G |
7: 30,268,939 (GRCm39) |
|
probably null |
Het |
| Lrrc46 |
C |
T |
11: 96,926,354 (GRCm39) |
E181K |
probably benign |
Het |
| Lztr1 |
T |
A |
16: 17,338,455 (GRCm39) |
V226E |
probably damaging |
Het |
| Myh9 |
G |
T |
15: 77,665,418 (GRCm39) |
D684E |
probably benign |
Het |
| Myo7a |
T |
C |
7: 97,732,349 (GRCm39) |
T713A |
probably damaging |
Het |
| Nrap |
G |
T |
19: 56,377,250 (GRCm39) |
N62K |
probably damaging |
Het |
| Or51a10 |
T |
C |
7: 103,699,021 (GRCm39) |
Y180C |
probably damaging |
Het |
| Or5an1 |
A |
T |
19: 12,261,069 (GRCm39) |
Y219F |
probably damaging |
Het |
| Osbp2 |
T |
C |
11: 3,662,016 (GRCm39) |
D708G |
probably damaging |
Het |
| Pcnx2 |
G |
A |
8: 126,488,393 (GRCm39) |
P1717L |
probably damaging |
Het |
| Pex1 |
A |
G |
5: 3,683,789 (GRCm39) |
D1095G |
probably damaging |
Het |
| Ptpn3 |
T |
C |
4: 57,197,576 (GRCm39) |
H771R |
probably benign |
Het |
| R3hcc1l |
G |
A |
19: 42,551,389 (GRCm39) |
A129T |
probably damaging |
Het |
| Rbm15 |
G |
A |
3: 107,238,419 (GRCm39) |
R660W |
probably damaging |
Het |
| Recql |
C |
T |
6: 142,310,364 (GRCm39) |
V489M |
probably benign |
Het |
| Sash1 |
A |
T |
10: 8,626,897 (GRCm39) |
S162R |
probably damaging |
Het |
| Sec11a |
T |
C |
7: 80,584,810 (GRCm39) |
I42M |
probably benign |
Het |
| Slc25a23 |
G |
A |
17: 57,359,813 (GRCm39) |
Q61* |
probably null |
Het |
| Son |
A |
T |
16: 91,454,903 (GRCm39) |
M1217L |
probably benign |
Het |
| Sp140l2 |
A |
G |
1: 85,231,907 (GRCm39) |
|
probably benign |
Het |
| Srgap2 |
T |
C |
1: 131,339,593 (GRCm39) |
N123S |
probably damaging |
Het |
| Ssh1 |
T |
C |
5: 114,088,441 (GRCm39) |
|
probably benign |
Het |
| St13 |
T |
C |
15: 81,273,899 (GRCm39) |
|
probably null |
Het |
| St3gal3 |
A |
T |
4: 117,889,072 (GRCm39) |
D57E |
probably damaging |
Het |
| Stk4 |
C |
T |
2: 163,940,505 (GRCm39) |
|
probably benign |
Het |
| Tln1 |
T |
A |
4: 43,539,508 (GRCm39) |
T1605S |
probably benign |
Het |
| Tln1 |
T |
C |
4: 43,555,894 (GRCm39) |
T107A |
possibly damaging |
Het |
| Tmem135 |
G |
T |
7: 88,793,065 (GRCm39) |
|
probably benign |
Het |
| Tmtc3 |
A |
G |
10: 100,283,467 (GRCm39) |
M696T |
probably benign |
Het |
| Trbv28 |
T |
A |
6: 41,248,761 (GRCm39) |
L97Q |
probably damaging |
Het |
| Trpc4ap |
A |
T |
2: 155,481,455 (GRCm39) |
F534I |
possibly damaging |
Het |
| Trpm8 |
T |
C |
1: 88,254,127 (GRCm39) |
Y117H |
probably damaging |
Het |
| Zfp608 |
T |
C |
18: 55,120,871 (GRCm39) |
T239A |
probably benign |
Het |
| Zmym5 |
T |
G |
14: 57,041,617 (GRCm39) |
H162P |
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 |
|
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 |
|
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 |
|
| Posted On |
2014-05-07 |
Incidental Mutation