Incidental Mutation 'R4804:D5Ertd579e'
| ID |
370533 |
| 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 |
041998-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.317)
|
| Stock # |
R4804 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
36757829-36853368 bp(-) (GRCm39) |
| Type of Mutation |
splice site (5 bp from exon) |
| DNA Base Change (assembly) |
C to T
at 36786996 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000031091
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000031091]
[ENSMUST00000031091]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably null
Transcript: ENSMUST00000031091
|
| SMART Domains |
Protein: ENSMUSP00000031091
Gene: ENSMUSG00000029190
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DUF4603
|
23 |
1303 |
N/A |
PFAM |
|
low complexity region
|
1365 |
1376 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000031091
|
| SMART Domains |
Protein: ENSMUSP00000031091
Gene: ENSMUSG00000029190
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DUF4603
|
23 |
1303 |
N/A |
PFAM |
|
low complexity region
|
1365 |
1376 |
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: ENSMUST00000201720
|
| Meta Mutation Damage Score |
0.9755 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.9%
- 20x: 94.2%
|
| Validation Efficiency |
99% (78/79) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 67 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930527J03Rik |
T |
C |
1: 178,103,675 (GRCm39) |
|
noncoding transcript |
Het |
| Ap4e1 |
T |
C |
2: 126,885,678 (GRCm39) |
|
probably null |
Het |
| Apbb1ip |
T |
C |
2: 22,713,610 (GRCm39) |
|
probably null |
Het |
| Apol11b |
T |
A |
15: 77,519,466 (GRCm39) |
I205F |
probably damaging |
Het |
| Arl6ip1 |
A |
T |
7: 117,728,775 (GRCm39) |
|
probably null |
Het |
| Barx2 |
A |
G |
9: 31,758,108 (GRCm39) |
S277P |
unknown |
Het |
| BC035947 |
T |
G |
1: 78,474,513 (GRCm39) |
D673A |
probably damaging |
Het |
| Cacna2d1 |
A |
T |
5: 16,564,206 (GRCm39) |
I930F |
probably damaging |
Het |
| Cd226 |
T |
C |
18: 89,225,292 (GRCm39) |
V63A |
possibly damaging |
Het |
| Cdk8 |
A |
G |
5: 146,233,209 (GRCm39) |
K236E |
probably damaging |
Het |
| Cds1 |
T |
C |
5: 101,969,389 (GRCm39) |
L449P |
probably damaging |
Het |
| Celsr1 |
T |
C |
15: 85,822,154 (GRCm39) |
D1721G |
possibly damaging |
Het |
| Chtf18 |
T |
C |
17: 25,938,231 (GRCm39) |
D934G |
probably benign |
Het |
| Clk4 |
T |
A |
11: 51,172,150 (GRCm39) |
L271Q |
probably damaging |
Het |
| Cnnm1 |
C |
A |
19: 43,480,014 (GRCm39) |
T853N |
probably benign |
Het |
| Col26a1 |
A |
G |
5: 136,865,579 (GRCm39) |
V103A |
probably damaging |
Het |
| Ddx39a |
A |
G |
8: 84,447,724 (GRCm39) |
K190E |
probably damaging |
Het |
| Dgkg |
G |
A |
16: 22,393,943 (GRCm39) |
|
probably benign |
Het |
| Dnajc14 |
A |
T |
10: 128,649,926 (GRCm39) |
H477L |
probably benign |
Het |
| Dytn |
A |
G |
1: 63,682,525 (GRCm39) |
V374A |
probably benign |
Het |
| Gfra2 |
T |
C |
14: 71,163,361 (GRCm39) |
Y215H |
possibly damaging |
Het |
| Grik1 |
A |
G |
16: 87,754,457 (GRCm39) |
I376T |
probably damaging |
Het |
| Gzmm |
A |
T |
10: 79,530,890 (GRCm39) |
T231S |
probably benign |
Het |
| Hecw1 |
A |
G |
13: 14,480,570 (GRCm39) |
S499P |
probably benign |
Het |
| Hhla1 |
T |
C |
15: 65,794,948 (GRCm39) |
I511V |
probably benign |
Het |
| Ifnlr1 |
A |
G |
4: 135,432,647 (GRCm39) |
D361G |
possibly damaging |
Het |
| Ikzf3 |
A |
G |
11: 98,381,400 (GRCm39) |
V60A |
probably benign |
Het |
| Ipo4 |
G |
C |
14: 55,868,313 (GRCm39) |
R495G |
possibly damaging |
Het |
| Kat2b-ps |
A |
T |
5: 93,540,392 (GRCm39) |
|
noncoding transcript |
Het |
| Kdm1b |
C |
T |
13: 47,216,553 (GRCm39) |
R308W |
probably damaging |
Het |
| Mblac2 |
T |
A |
13: 81,898,428 (GRCm39) |
L268* |
probably null |
Het |
| Mipep |
C |
T |
14: 61,040,401 (GRCm39) |
T307I |
probably damaging |
Het |
| Ms4a14 |
A |
G |
19: 11,281,404 (GRCm39) |
S385P |
possibly damaging |
Het |
| Myh2 |
T |
A |
11: 67,077,328 (GRCm39) |
I821N |
possibly damaging |
Het |
| Myo5c |
A |
T |
9: 75,152,306 (GRCm39) |
I65F |
probably damaging |
Het |
| Neurog1 |
A |
G |
13: 56,399,579 (GRCm39) |
L56P |
probably benign |
Het |
| Nrsn1 |
C |
A |
13: 25,437,580 (GRCm39) |
C116F |
probably benign |
Het |
| Nscme3l |
A |
T |
19: 5,553,028 (GRCm39) |
M251K |
possibly damaging |
Het |
| Nynrin |
T |
C |
14: 56,102,326 (GRCm39) |
V665A |
probably benign |
Het |
| Or10w1 |
A |
G |
19: 13,631,882 (GRCm39) |
M30V |
probably benign |
Het |
| Or2w1b |
T |
A |
13: 21,300,175 (GRCm39) |
Y104* |
probably null |
Het |
| Or5ak20 |
T |
C |
2: 85,183,425 (GRCm39) |
I282V |
probably benign |
Het |
| Pakap |
T |
C |
4: 57,854,688 (GRCm39) |
S67P |
probably benign |
Het |
| Pcdhac1 |
C |
T |
18: 37,224,231 (GRCm39) |
S348L |
possibly damaging |
Het |
| Pcnx4 |
T |
C |
12: 72,620,976 (GRCm39) |
I932T |
probably benign |
Het |
| Pfkl |
G |
A |
10: 77,827,228 (GRCm39) |
T486I |
probably benign |
Het |
| Pi4ka |
A |
T |
16: 17,126,025 (GRCm39) |
M1115K |
possibly damaging |
Het |
| Rilpl1 |
A |
G |
5: 124,631,828 (GRCm39) |
W173R |
probably damaging |
Het |
| Rnf111 |
A |
T |
9: 70,338,239 (GRCm39) |
C900S |
possibly damaging |
Het |
| Ryr2 |
A |
G |
13: 11,731,983 (GRCm39) |
V2319A |
probably damaging |
Het |
| Scnn1g |
AATCCTGCAGGTGA |
AA |
7: 121,362,303 (GRCm39) |
|
probably null |
Het |
| Slc25a13 |
A |
T |
6: 6,109,213 (GRCm39) |
L383H |
probably damaging |
Het |
| Slco2a1 |
C |
T |
9: 102,950,383 (GRCm39) |
P325L |
probably damaging |
Het |
| Stoml2 |
T |
C |
4: 43,029,882 (GRCm39) |
N162S |
probably benign |
Het |
| Syne1 |
G |
T |
10: 5,299,310 (GRCm39) |
Q982K |
possibly damaging |
Het |
| Tbc1d31 |
C |
T |
15: 57,814,502 (GRCm39) |
Q568* |
probably null |
Het |
| Tbc1d9 |
G |
A |
8: 83,982,554 (GRCm39) |
|
probably null |
Het |
| Tbx3 |
A |
G |
5: 119,818,577 (GRCm39) |
D384G |
possibly damaging |
Het |
| Tecta |
T |
C |
9: 42,309,533 (GRCm39) |
I14V |
probably benign |
Het |
| Tgm1 |
A |
T |
14: 55,943,076 (GRCm39) |
V588E |
probably benign |
Het |
| Tpk1 |
A |
C |
6: 43,570,012 (GRCm39) |
|
probably benign |
Het |
| Tspear |
A |
T |
10: 77,612,791 (GRCm39) |
|
probably null |
Het |
| Ubxn10 |
G |
T |
4: 138,448,515 (GRCm39) |
Q54K |
possibly damaging |
Het |
| Ubxn4 |
C |
T |
1: 128,194,141 (GRCm39) |
R312* |
probably null |
Het |
| Vmn1r230 |
A |
T |
17: 21,067,345 (GRCm39) |
K178M |
probably damaging |
Het |
| Zfp143 |
G |
A |
7: 109,687,976 (GRCm39) |
V445I |
probably damaging |
Het |
| Zfp688 |
C |
A |
7: 127,021,057 (GRCm39) |
W40C |
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 |
|
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'- AGCACTCTCAAGGACCTGAG -3'
(R):5'- AGTTGTCTAACCTGGTGCAATATC -3'
Sequencing Primer
(F):5'- ATATTGAGTTCCAGGCCAGC -3'
(R):5'- CATTGCAGGAGAATGACATCTTG -3'
|
| Posted On |
2016-02-04 |
Incidental Mutation