Incidental Mutation 'R1693:D5Ertd579e'
| ID |
191921 |
| 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 |
039726-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.307)
|
| Stock # |
R1693 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
36757829-36853368 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 36771441 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Leucine
at position 985
(F985L)
|
| 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: F985L
PolyPhen 2
Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000031091
Gene: ENSMUSG00000029190
AA Change: F985L
| 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
|
| Meta Mutation Damage Score |
0.2810 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 96.2%
- 20x: 92.2%
|
| Validation Efficiency |
96% (69/72) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 66 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aff4 |
A |
G |
11: 53,287,380 (GRCm39) |
D378G |
probably damaging |
Het |
| Anpep |
C |
T |
7: 79,488,004 (GRCm39) |
E518K |
probably benign |
Het |
| Aox1 |
T |
C |
1: 58,124,701 (GRCm39) |
Y981H |
probably damaging |
Het |
| Arfgap2 |
T |
A |
2: 91,100,420 (GRCm39) |
|
probably null |
Het |
| Ccnf |
TGGGGG |
TGGGGGGG |
17: 24,445,514 (GRCm39) |
|
probably null |
Het |
| Cd53 |
T |
C |
3: 106,676,205 (GRCm39) |
N54S |
possibly damaging |
Het |
| Cep152 |
C |
A |
2: 125,408,174 (GRCm39) |
A1390S |
probably benign |
Het |
| Cfap91 |
A |
G |
16: 38,162,085 (GRCm39) |
Y19H |
probably benign |
Het |
| Chd7 |
T |
C |
4: 8,864,307 (GRCm39) |
|
probably null |
Het |
| Chrm5 |
A |
G |
2: 112,309,625 (GRCm39) |
L497P |
probably damaging |
Het |
| Colec12 |
G |
A |
18: 9,866,765 (GRCm39) |
V659M |
unknown |
Het |
| Creb3 |
C |
A |
4: 43,566,755 (GRCm39) |
H390Q |
probably damaging |
Het |
| D1Pas1 |
T |
C |
1: 186,700,226 (GRCm39) |
F52L |
probably benign |
Het |
| Dock4 |
C |
T |
12: 40,884,721 (GRCm39) |
P1742S |
probably benign |
Het |
| Ehmt2 |
G |
T |
17: 35,125,386 (GRCm39) |
V534L |
possibly damaging |
Het |
| Epcam |
A |
G |
17: 87,947,324 (GRCm39) |
D26G |
probably benign |
Het |
| F2 |
C |
T |
2: 91,459,524 (GRCm39) |
V420M |
probably damaging |
Het |
| Fbxw16 |
A |
T |
9: 109,265,327 (GRCm39) |
D401E |
possibly damaging |
Het |
| Fiz1 |
T |
C |
7: 5,011,727 (GRCm39) |
T264A |
probably benign |
Het |
| Fsbp |
T |
C |
4: 11,583,745 (GRCm39) |
V148A |
probably benign |
Het |
| Furin |
A |
G |
7: 80,042,230 (GRCm39) |
L455P |
probably damaging |
Het |
| Ggt7 |
G |
A |
2: 155,348,395 (GRCm39) |
R10W |
probably damaging |
Het |
| Gucy2g |
T |
C |
19: 55,211,358 (GRCm39) |
E624G |
probably damaging |
Het |
| Igf2r |
A |
G |
17: 12,923,203 (GRCm39) |
F1202S |
probably damaging |
Het |
| Ikzf1 |
C |
T |
11: 11,657,838 (GRCm39) |
P32S |
probably damaging |
Het |
| Itgal |
G |
A |
7: 126,904,453 (GRCm39) |
V309M |
probably damaging |
Het |
| Kcnk5 |
C |
A |
14: 20,191,964 (GRCm39) |
R399L |
probably damaging |
Het |
| Kdm5b |
C |
T |
1: 134,525,314 (GRCm39) |
|
probably benign |
Het |
| Lrp2 |
C |
T |
2: 69,340,762 (GRCm39) |
V1038M |
probably damaging |
Het |
| Lrp4 |
T |
C |
2: 91,322,698 (GRCm39) |
Y1096H |
probably damaging |
Het |
| Lrrc7 |
C |
G |
3: 157,790,170 (GRCm39) |
S1465T |
possibly damaging |
Het |
| Map3k5 |
A |
G |
10: 19,979,988 (GRCm39) |
N832S |
probably damaging |
Het |
| Mrtfb |
C |
A |
16: 13,216,334 (GRCm39) |
L349I |
possibly damaging |
Het |
| Mrtfb |
T |
A |
16: 13,216,335 (GRCm39) |
L349Q |
probably damaging |
Het |
| Myh13 |
A |
C |
11: 67,232,310 (GRCm39) |
M495L |
possibly damaging |
Het |
| Myh9 |
A |
C |
15: 77,697,097 (GRCm39) |
Y106D |
probably damaging |
Het |
| Naa16 |
A |
T |
14: 79,588,896 (GRCm39) |
W452R |
probably damaging |
Het |
| Nsd1 |
T |
C |
13: 55,395,074 (GRCm39) |
S892P |
probably benign |
Het |
| Nup205 |
A |
G |
6: 35,187,906 (GRCm39) |
I939V |
probably benign |
Het |
| Oit3 |
A |
G |
10: 59,261,239 (GRCm39) |
F476S |
probably damaging |
Het |
| Or7e174 |
T |
C |
9: 20,012,883 (GRCm39) |
V276A |
probably benign |
Het |
| Panx3 |
A |
T |
9: 37,580,203 (GRCm39) |
M50K |
possibly damaging |
Het |
| Panx3 |
A |
C |
9: 37,580,242 (GRCm39) |
M37R |
possibly damaging |
Het |
| Pip4p2 |
T |
A |
4: 14,886,631 (GRCm39) |
D68E |
probably benign |
Het |
| Ppp2r5e |
C |
G |
12: 75,516,341 (GRCm39) |
A239P |
probably damaging |
Het |
| Prkaca |
T |
A |
8: 84,707,827 (GRCm39) |
D37E |
probably benign |
Het |
| Prkcq |
T |
A |
2: 11,259,010 (GRCm39) |
I310N |
probably damaging |
Het |
| Prrc2c |
A |
G |
1: 162,546,282 (GRCm39) |
Y235H |
probably damaging |
Het |
| Ptprj |
A |
T |
2: 90,280,141 (GRCm39) |
C1052* |
probably null |
Het |
| Rad52 |
C |
A |
6: 119,892,996 (GRCm39) |
P180Q |
probably damaging |
Het |
| Sdhaf3 |
T |
A |
6: 7,038,964 (GRCm39) |
D95E |
probably benign |
Het |
| Slitrk6 |
A |
G |
14: 110,988,360 (GRCm39) |
I449T |
probably damaging |
Het |
| Spata7 |
T |
A |
12: 98,630,516 (GRCm39) |
M358K |
possibly damaging |
Het |
| Tada2a |
C |
T |
11: 83,972,895 (GRCm39) |
G178D |
probably damaging |
Het |
| Tap2 |
G |
C |
17: 34,428,186 (GRCm39) |
V287L |
probably benign |
Het |
| Tmem200a |
A |
G |
10: 25,869,877 (GRCm39) |
F131L |
possibly damaging |
Het |
| Traip |
A |
T |
9: 107,847,229 (GRCm39) |
K356M |
probably damaging |
Het |
| Tspan8 |
T |
A |
10: 115,679,949 (GRCm39) |
|
probably benign |
Het |
| U2surp |
A |
T |
9: 95,393,913 (GRCm39) |
M1K |
probably null |
Het |
| Vars1 |
A |
T |
17: 35,217,172 (GRCm39) |
D427E |
probably benign |
Het |
| Vmn1r113 |
G |
A |
7: 20,521,532 (GRCm39) |
C108Y |
probably damaging |
Het |
| Vmn2r63 |
T |
A |
7: 42,577,743 (GRCm39) |
Q265L |
probably benign |
Het |
| Vps33b |
T |
A |
7: 79,937,641 (GRCm39) |
V463E |
probably damaging |
Het |
| Vrtn |
T |
C |
12: 84,695,429 (GRCm39) |
S60P |
probably benign |
Het |
| Zfp53 |
T |
A |
17: 21,729,884 (GRCm39) |
V639D |
possibly damaging |
Het |
| Zfp964 |
T |
A |
8: 70,116,800 (GRCm39) |
S466T |
possibly 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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- GCTTGAAACTGGGGCTAAAAGATGC -3'
(R):5'- ACCACACCCTCTAAACCTTGGGATG -3'
Sequencing Primer
(F):5'- GGCTAAAAGATGCAATCCCTTCTG -3'
(R):5'- TTGGGATGTGGCCCAAGATAAG -3'
|
| Posted On |
2014-05-14 |
Incidental Mutation