Incidental Mutation 'R4275:D3Ertd751e'
| ID |
324745 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
D3Ertd751e
|
| Ensembl Gene |
ENSMUSG00000025766 |
| Gene Name |
DNA segment, Chr 3, ERATO Doi 751, expressed |
| Synonyms |
2810009O15Rik, 4930415G15Rik |
| MMRRC Submission |
041646-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.081)
|
| Stock # |
R4275 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
3 |
| Chromosomal Location |
41697046-41757755 bp(+) (GRCm39) |
| Type of Mutation |
utr 3 prime |
| DNA Base Change (assembly) |
C to A
at 41710589 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000142037
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000026867]
[ENSMUST00000026868]
[ENSMUST00000108065]
[ENSMUST00000119572]
[ENSMUST00000120167]
[ENSMUST00000143841]
[ENSMUST00000146165]
[ENSMUST00000194346]
[ENSMUST00000195882]
[ENSMUST00000195030]
[ENSMUST00000192193]
|
| AlphaFold |
Q8BGN2 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000026867
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000026868
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000108065
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000119572
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000120167
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000143841
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000146165
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000192799
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000194346
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000195882
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000193228
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000193075
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000195030
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000192193
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.4%
- 20x: 95.7%
|
| Validation Efficiency |
98% (43/44) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 34 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Cacna1e |
T |
C |
1: 154,369,071 (GRCm39) |
Y322C |
probably damaging |
Het |
| Camsap2 |
A |
G |
1: 136,198,614 (GRCm39) |
V1462A |
probably benign |
Het |
| Dhcr7 |
C |
T |
7: 143,396,964 (GRCm39) |
A152V |
probably damaging |
Het |
| Enpep |
A |
T |
3: 129,125,927 (GRCm39) |
N68K |
probably benign |
Het |
| Fam131b |
G |
A |
6: 42,298,241 (GRCm39) |
L43F |
probably damaging |
Het |
| Fbxl5 |
T |
A |
5: 43,920,114 (GRCm39) |
|
probably benign |
Het |
| Hspg2 |
C |
T |
4: 137,246,251 (GRCm39) |
R1010C |
probably damaging |
Het |
| Hycc2 |
T |
C |
1: 58,569,092 (GRCm39) |
T440A |
probably benign |
Het |
| Igf2 |
T |
C |
7: 142,209,523 (GRCm39) |
M46V |
probably benign |
Het |
| Kntc1 |
T |
A |
5: 123,905,842 (GRCm39) |
Y367N |
probably damaging |
Het |
| Mapk8ip2 |
T |
C |
15: 89,343,198 (GRCm39) |
W647R |
probably damaging |
Het |
| Mettl21c |
C |
T |
1: 44,049,716 (GRCm39) |
V110I |
probably damaging |
Het |
| Mrgprh |
T |
C |
17: 13,096,114 (GRCm39) |
L118P |
probably damaging |
Het |
| Myadm |
A |
G |
7: 3,345,618 (GRCm39) |
T127A |
probably benign |
Het |
| Myh10 |
A |
T |
11: 68,642,766 (GRCm39) |
|
probably null |
Het |
| Nadk |
T |
A |
4: 155,668,712 (GRCm39) |
Y128N |
probably benign |
Het |
| Or5g27 |
T |
C |
2: 85,410,207 (GRCm39) |
V208A |
probably benign |
Het |
| Or8k39 |
T |
C |
2: 86,563,936 (GRCm39) |
T7A |
probably damaging |
Het |
| Papolg |
A |
G |
11: 23,818,378 (GRCm39) |
I500T |
probably benign |
Het |
| Pkhd1 |
A |
T |
1: 20,128,608 (GRCm39) |
C4032S |
probably benign |
Het |
| Rnase1 |
A |
T |
14: 51,383,327 (GRCm39) |
L9Q |
probably damaging |
Het |
| Rspry1 |
G |
T |
8: 95,376,389 (GRCm39) |
V304L |
probably benign |
Het |
| Sall2 |
C |
A |
14: 52,551,260 (GRCm39) |
R643L |
probably damaging |
Het |
| Scpep1 |
T |
C |
11: 88,837,968 (GRCm39) |
|
probably null |
Het |
| Serpina3m |
T |
A |
12: 104,355,375 (GRCm39) |
I14N |
probably damaging |
Het |
| Smg6 |
A |
C |
11: 74,884,700 (GRCm39) |
|
probably benign |
Het |
| Suz12 |
T |
C |
11: 79,920,879 (GRCm39) |
M593T |
probably damaging |
Het |
| Tmem139 |
A |
G |
6: 42,241,039 (GRCm39) |
E208G |
probably damaging |
Het |
| Tnxb |
A |
G |
17: 34,917,205 (GRCm39) |
Y2200C |
probably damaging |
Het |
| Usp19 |
T |
G |
9: 108,375,893 (GRCm39) |
V911G |
probably damaging |
Het |
| Vipr1 |
T |
C |
9: 121,493,684 (GRCm39) |
L245P |
probably damaging |
Het |
| Vmn2r105 |
T |
A |
17: 20,448,902 (GRCm39) |
I92F |
probably damaging |
Het |
| Zbtb47 |
T |
A |
9: 121,595,605 (GRCm39) |
V576D |
probably damaging |
Het |
| Zfp518b |
A |
G |
5: 38,829,071 (GRCm39) |
V978A |
probably damaging |
Het |
|
| Other mutations in D3Ertd751e |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01329:D3Ertd751e
|
APN |
3 |
41,703,132 (GRCm39) |
missense |
probably benign |
0.04 |
|
IGL02484:D3Ertd751e
|
APN |
3 |
41,708,155 (GRCm39) |
splice site |
probably null |
|
|
IGL02587:D3Ertd751e
|
APN |
3 |
41,708,287 (GRCm39) |
missense |
probably benign |
|
|
IGL03173:D3Ertd751e
|
APN |
3 |
41,710,497 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03304:D3Ertd751e
|
APN |
3 |
41,701,164 (GRCm39) |
critical splice donor site |
probably null |
|
|
Terre
|
UTSW |
3 |
41,712,844 (GRCm39) |
splice site |
probably null |
|
|
R0239:D3Ertd751e
|
UTSW |
3 |
41,708,313 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0239:D3Ertd751e
|
UTSW |
3 |
41,708,313 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6350:D3Ertd751e
|
UTSW |
3 |
41,708,278 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7001:D3Ertd751e
|
UTSW |
3 |
41,712,844 (GRCm39) |
splice site |
probably null |
|
|
R7134:D3Ertd751e
|
UTSW |
3 |
41,708,212 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7179:D3Ertd751e
|
UTSW |
3 |
41,703,143 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R7318:D3Ertd751e
|
UTSW |
3 |
41,756,986 (GRCm39) |
splice site |
probably null |
|
|
R7358:D3Ertd751e
|
UTSW |
3 |
41,701,000 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7632:D3Ertd751e
|
UTSW |
3 |
41,708,163 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7896:D3Ertd751e
|
UTSW |
3 |
41,710,508 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7952:D3Ertd751e
|
UTSW |
3 |
41,703,096 (GRCm39) |
splice site |
probably null |
|
|
R8714:D3Ertd751e
|
UTSW |
3 |
41,700,998 (GRCm39) |
nonsense |
probably null |
|
|
| Predicted Primers |
PCR Primer
(F):5'- GAATGTTGTTCTACCACCAGTG -3'
(R):5'- TGCCTTAGCAGATATAGATAGTCTC -3'
Sequencing Primer
(F):5'- TTGTTCTACCACCAGTGTGACAAAAC -3'
(R):5'- GATTTCAAGTGTGGAGAGG -3'
|
| Posted On |
2015-06-24 |
Incidental Mutation