Incidental Mutation 'IGL02164:D5Ertd579e'
| ID |
282574 |
| 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 # |
IGL02164
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
5 |
| Chromosomal Location |
36757829-36853368 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 36772303 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Arginine
at position 697
(S697R)
|
| 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: S697R
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000031091
Gene: ENSMUSG00000029190
AA Change: S697R
| 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: 76 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 5730480H06Rik |
T |
A |
5: 48,537,524 (GRCm39) |
V187E |
probably benign |
Het |
| Abcc12 |
T |
A |
8: 87,254,033 (GRCm39) |
D917V |
probably damaging |
Het |
| Abhd15 |
A |
T |
11: 77,406,840 (GRCm39) |
E272D |
probably benign |
Het |
| Adat3 |
T |
A |
10: 80,442,461 (GRCm39) |
S100T |
probably benign |
Het |
| Adgrg6 |
T |
C |
10: 14,399,299 (GRCm39) |
|
probably benign |
Het |
| Alpl |
C |
T |
4: 137,481,290 (GRCm39) |
V121M |
probably damaging |
Het |
| Ano1 |
A |
T |
7: 144,190,918 (GRCm39) |
Y388N |
possibly damaging |
Het |
| Arrdc4 |
C |
T |
7: 68,389,285 (GRCm39) |
|
probably benign |
Het |
| Asxl2 |
A |
G |
12: 3,552,079 (GRCm39) |
M1274V |
probably benign |
Het |
| Bmt2 |
G |
T |
6: 13,628,878 (GRCm39) |
N268K |
possibly damaging |
Het |
| Bpifb2 |
C |
A |
2: 153,725,482 (GRCm39) |
L176M |
probably damaging |
Het |
| Brd8 |
C |
T |
18: 34,735,780 (GRCm39) |
S899N |
probably damaging |
Het |
| Cd14 |
T |
C |
18: 36,858,838 (GRCm39) |
R206G |
possibly damaging |
Het |
| Cfap65 |
G |
T |
1: 74,967,304 (GRCm39) |
T215K |
possibly damaging |
Het |
| Chd9 |
T |
C |
8: 91,659,849 (GRCm39) |
S270P |
possibly damaging |
Het |
| Cidea |
C |
T |
18: 67,499,581 (GRCm39) |
S156L |
probably damaging |
Het |
| Col5a3 |
A |
G |
9: 20,703,939 (GRCm39) |
|
probably null |
Het |
| Cspg5 |
T |
C |
9: 110,080,104 (GRCm39) |
V424A |
probably damaging |
Het |
| Ctc1 |
A |
G |
11: 68,916,922 (GRCm39) |
H272R |
probably damaging |
Het |
| Dennd3 |
T |
C |
15: 73,416,297 (GRCm39) |
S516P |
probably benign |
Het |
| Dipk2b |
T |
A |
X: 18,285,192 (GRCm39) |
R421* |
probably null |
Het |
| Dlgap4 |
G |
A |
2: 156,553,059 (GRCm39) |
R509H |
probably damaging |
Het |
| Dus3l |
T |
C |
17: 57,074,943 (GRCm39) |
|
probably benign |
Het |
| Dync1h1 |
G |
T |
12: 110,628,993 (GRCm39) |
W4183C |
probably damaging |
Het |
| Eif2s3x |
A |
T |
X: 93,248,678 (GRCm39) |
M152K |
possibly damaging |
Het |
| Epb41l1 |
C |
T |
2: 156,336,869 (GRCm39) |
|
probably benign |
Het |
| Ephx2 |
A |
G |
14: 66,341,169 (GRCm39) |
|
probably benign |
Het |
| Fabp12 |
T |
A |
3: 10,311,075 (GRCm39) |
Y129F |
probably damaging |
Het |
| Fat3 |
A |
G |
9: 15,942,720 (GRCm39) |
|
probably benign |
Het |
| Fat4 |
T |
C |
3: 39,050,354 (GRCm39) |
|
probably null |
Het |
| Gnb1 |
T |
A |
4: 155,641,631 (GRCm39) |
|
probably null |
Het |
| Gpr107 |
C |
A |
2: 31,068,298 (GRCm39) |
Y253* |
probably null |
Het |
| Grb10 |
C |
T |
11: 11,893,962 (GRCm39) |
E320K |
probably damaging |
Het |
| Gucy2g |
G |
T |
19: 55,226,455 (GRCm39) |
H154N |
probably benign |
Het |
| H2bl1 |
T |
C |
13: 99,120,715 (GRCm39) |
K104E |
probably damaging |
Het |
| Hemk1 |
T |
A |
9: 107,208,735 (GRCm39) |
H154L |
probably benign |
Het |
| Hk2 |
A |
T |
6: 82,720,920 (GRCm39) |
|
probably null |
Het |
| Htr5a |
A |
G |
5: 28,047,463 (GRCm39) |
N6S |
probably damaging |
Het |
| Htra3 |
T |
C |
5: 35,810,410 (GRCm39) |
D424G |
probably benign |
Het |
| Ift52 |
A |
G |
2: 162,867,384 (GRCm39) |
|
probably null |
Het |
| Igdcc4 |
A |
G |
9: 65,032,064 (GRCm39) |
|
probably benign |
Het |
| Itpr1 |
A |
G |
6: 108,366,444 (GRCm39) |
K124E |
probably benign |
Het |
| Kcnc2 |
T |
A |
10: 112,291,590 (GRCm39) |
N259K |
possibly damaging |
Het |
| Kics2 |
A |
G |
10: 121,586,675 (GRCm39) |
Y194C |
probably damaging |
Het |
| Lmod2 |
A |
T |
6: 24,603,909 (GRCm39) |
I295F |
possibly damaging |
Het |
| Lrp1 |
T |
C |
10: 127,399,536 (GRCm39) |
E2324G |
probably benign |
Het |
| Lss |
T |
C |
10: 76,372,094 (GRCm39) |
S150P |
probably damaging |
Het |
| Macf1 |
T |
C |
4: 123,374,065 (GRCm39) |
N1515S |
probably benign |
Het |
| Mapk11 |
T |
C |
15: 89,029,651 (GRCm39) |
|
probably null |
Het |
| Mc3r |
T |
A |
2: 172,091,314 (GRCm39) |
F179I |
probably damaging |
Het |
| Mtmr9 |
T |
A |
14: 63,767,737 (GRCm39) |
N291Y |
probably damaging |
Het |
| Myo1h |
T |
C |
5: 114,472,157 (GRCm39) |
F396L |
probably damaging |
Het |
| Nek2 |
A |
G |
1: 191,559,416 (GRCm39) |
K307R |
probably benign |
Het |
| Or12d2 |
C |
A |
17: 37,624,578 (GRCm39) |
M232I |
probably benign |
Het |
| Osmr |
G |
A |
15: 6,871,529 (GRCm39) |
T296I |
probably damaging |
Het |
| Pcdhb11 |
T |
G |
18: 37,556,412 (GRCm39) |
S581A |
probably benign |
Het |
| Pfkp |
C |
T |
13: 6,647,951 (GRCm39) |
V542M |
probably damaging |
Het |
| Pmpca |
C |
T |
2: 26,285,581 (GRCm39) |
S519L |
probably benign |
Het |
| Ptgds |
A |
T |
2: 25,359,124 (GRCm39) |
Y44N |
probably damaging |
Het |
| Raly |
T |
A |
2: 154,701,849 (GRCm39) |
Y116* |
probably null |
Het |
| Rock2 |
A |
G |
12: 17,015,530 (GRCm39) |
D809G |
probably damaging |
Het |
| Sgsm2 |
T |
G |
11: 74,756,242 (GRCm39) |
N369T |
possibly damaging |
Het |
| Slc6a15 |
A |
G |
10: 103,254,083 (GRCm39) |
D673G |
probably benign |
Het |
| Spire2 |
A |
T |
8: 124,059,703 (GRCm39) |
D67V |
probably damaging |
Het |
| St7l |
T |
C |
3: 104,829,597 (GRCm39) |
|
probably null |
Het |
| Stau2 |
A |
G |
1: 16,416,052 (GRCm39) |
L469P |
probably damaging |
Het |
| Tefm |
A |
G |
11: 80,030,915 (GRCm39) |
L107S |
probably damaging |
Het |
| Ticam1 |
A |
T |
17: 56,577,019 (GRCm39) |
V692D |
unknown |
Het |
| Tipin |
T |
A |
9: 64,201,631 (GRCm39) |
D143E |
probably damaging |
Het |
| Tmem132c |
C |
A |
5: 127,613,441 (GRCm39) |
T448K |
probably damaging |
Het |
| Trav8-1 |
A |
T |
14: 53,707,213 (GRCm39) |
M1L |
unknown |
Het |
| Ttn |
C |
A |
2: 76,569,141 (GRCm39) |
V27251F |
probably damaging |
Het |
| Uvrag |
A |
T |
7: 98,653,896 (GRCm39) |
C31* |
probably null |
Het |
| Zap70 |
T |
C |
1: 36,810,267 (GRCm39) |
Y126H |
probably damaging |
Het |
| Zfp644 |
A |
G |
5: 106,785,965 (GRCm39) |
V194A |
probably benign |
Het |
| Zfp663 |
C |
T |
2: 165,200,968 (GRCm39) |
W22* |
probably null |
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 |
|
|
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 |
2015-04-16 |
Incidental Mutation