Incidental Mutation 'R4155:D6Ertd527e'
| ID |
315082 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
D6Ertd527e
|
| Ensembl Gene |
ENSMUSG00000090891 |
| Gene Name |
DNA segment, Chr 6, ERATO Doi 527, expressed |
| Synonyms |
|
| MMRRC Submission |
040999-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.168)
|
| Stock # |
R4155 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
6 |
| Chromosomal Location |
87081729-87089979 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to G
at 87088506 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Serine
at position 223
(T223S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000145529
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000170124]
[ENSMUST00000203747]
[ENSMUST00000204927]
|
| AlphaFold |
A0A0N4SWI3 |
| Predicted Effect |
unknown
Transcript: ENSMUST00000170124
AA Change: T222S
|
| SMART Domains |
Protein: ENSMUSP00000130803
Gene: ENSMUSG00000090891
AA Change: T222S
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
7 |
183 |
N/A |
INTRINSIC |
|
internal_repeat_1
|
186 |
207 |
1.15e-33 |
PROSPERO |
|
low complexity region
|
212 |
243 |
N/A |
INTRINSIC |
|
internal_repeat_2
|
244 |
254 |
2.22e-11 |
PROSPERO |
|
internal_repeat_2
|
260 |
270 |
2.22e-11 |
PROSPERO |
|
low complexity region
|
272 |
294 |
N/A |
INTRINSIC |
|
internal_repeat_1
|
297 |
318 |
1.15e-33 |
PROSPERO |
|
low complexity region
|
323 |
459 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000203725
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000203747
AA Change: T222S
|
| SMART Domains |
Protein: ENSMUSP00000144761
Gene: ENSMUSG00000090891
AA Change: T222S
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
5 |
182 |
N/A |
INTRINSIC |
|
internal_repeat_1
|
185 |
206 |
1.04e-33 |
PROSPERO |
|
low complexity region
|
211 |
242 |
N/A |
INTRINSIC |
|
internal_repeat_2
|
243 |
253 |
2.12e-11 |
PROSPERO |
|
internal_repeat_2
|
259 |
269 |
2.12e-11 |
PROSPERO |
|
low complexity region
|
271 |
293 |
N/A |
INTRINSIC |
|
internal_repeat_1
|
296 |
317 |
1.04e-33 |
PROSPERO |
|
low complexity region
|
322 |
458 |
N/A |
INTRINSIC |
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000204927
AA Change: T223S
|
| SMART Domains |
Protein: ENSMUSP00000145529
Gene: ENSMUSG00000090891
AA Change: T223S
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
7 |
183 |
N/A |
INTRINSIC |
|
internal_repeat_1
|
186 |
207 |
1.15e-33 |
PROSPERO |
|
low complexity region
|
212 |
243 |
N/A |
INTRINSIC |
|
internal_repeat_2
|
244 |
254 |
2.22e-11 |
PROSPERO |
|
internal_repeat_2
|
260 |
270 |
2.22e-11 |
PROSPERO |
|
low complexity region
|
272 |
294 |
N/A |
INTRINSIC |
|
internal_repeat_1
|
297 |
318 |
1.15e-33 |
PROSPERO |
|
low complexity region
|
323 |
459 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000205257
|
| Meta Mutation Damage Score |
0.0869 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.5%
- 20x: 95.8%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 43 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2410004B18Rik |
T |
A |
3: 145,644,018 (GRCm39) |
F69I |
possibly damaging |
Het |
| Akt3 |
A |
G |
1: 176,924,543 (GRCm39) |
I184T |
possibly damaging |
Het |
| Arl6ip1 |
AAAATAAATAAATAAATAAATAAATA |
AAAATAAATAAATAAATAAATAAATAAATA |
7: 117,721,122 (GRCm39) |
|
probably benign |
Het |
| Armc2 |
A |
G |
10: 41,887,863 (GRCm39) |
V40A |
probably damaging |
Het |
| Ash2l |
A |
G |
8: 26,307,482 (GRCm39) |
Y485H |
probably damaging |
Het |
| Atr |
T |
A |
9: 95,770,177 (GRCm39) |
C1202* |
probably null |
Het |
| Bcl11b |
A |
T |
12: 107,883,684 (GRCm39) |
|
probably null |
Het |
| Birc6 |
C |
A |
17: 74,903,934 (GRCm39) |
S1242R |
probably benign |
Het |
| Blm |
GCCTCCTCCTCCTCCTCCTCCTCCTCCTCC |
GCCTCCTCCTCCTCCTCCTCCTCCTCC |
7: 80,162,652 (GRCm39) |
|
probably benign |
Het |
| Bsx |
A |
G |
9: 40,787,632 (GRCm39) |
E102G |
probably benign |
Het |
| Casq2 |
A |
T |
3: 102,040,418 (GRCm39) |
|
probably null |
Het |
| Ccpg1 |
C |
A |
9: 72,919,449 (GRCm39) |
Q355K |
probably benign |
Het |
| Copa |
T |
G |
1: 171,928,992 (GRCm39) |
N251K |
probably damaging |
Het |
| Cst8 |
C |
A |
2: 148,641,996 (GRCm39) |
A31E |
possibly damaging |
Het |
| Ecd |
A |
G |
14: 20,374,632 (GRCm39) |
S503P |
probably damaging |
Het |
| Fbn2 |
C |
A |
18: 58,156,359 (GRCm39) |
E2487* |
probably null |
Het |
| Hoxd9 |
A |
G |
2: 74,529,667 (GRCm39) |
I308V |
probably benign |
Het |
| Ica1l |
G |
A |
1: 60,053,052 (GRCm39) |
A162V |
possibly damaging |
Het |
| Kcnj15 |
A |
T |
16: 95,097,166 (GRCm39) |
K263* |
probably null |
Het |
| Mettl4 |
T |
C |
17: 95,048,003 (GRCm39) |
M213V |
probably benign |
Het |
| Nalf1 |
T |
A |
8: 9,283,023 (GRCm39) |
Y342F |
possibly damaging |
Het |
| Ncan |
C |
A |
8: 70,562,727 (GRCm39) |
E510D |
possibly damaging |
Het |
| Ndufs4 |
A |
T |
13: 114,444,390 (GRCm39) |
S129R |
probably benign |
Het |
| Or14a259 |
T |
A |
7: 86,013,270 (GRCm39) |
I92L |
probably benign |
Het |
| Or4c127 |
A |
G |
2: 89,833,004 (GRCm39) |
S85G |
probably benign |
Het |
| Or52s19 |
T |
C |
7: 103,008,363 (GRCm39) |
T13A |
probably benign |
Het |
| Or8d1b |
A |
T |
9: 38,887,451 (GRCm39) |
T160S |
probably damaging |
Het |
| P2rx5 |
A |
G |
11: 73,062,655 (GRCm39) |
T455A |
probably damaging |
Het |
| Pcdh1 |
T |
A |
18: 38,336,159 (GRCm39) |
T159S |
probably damaging |
Het |
| Poln |
A |
G |
5: 34,166,993 (GRCm39) |
V755A |
possibly damaging |
Het |
| Pou4f1 |
C |
T |
14: 104,705,153 (GRCm39) |
S6N |
possibly damaging |
Het |
| Rpap1 |
C |
T |
2: 119,604,660 (GRCm39) |
R416H |
probably damaging |
Het |
| Samd4 |
T |
A |
14: 47,290,403 (GRCm39) |
M170K |
possibly damaging |
Het |
| Srgn |
A |
G |
10: 62,333,613 (GRCm39) |
F55L |
possibly damaging |
Het |
| Tmcc1 |
C |
T |
6: 116,110,765 (GRCm39) |
G176D |
probably benign |
Het |
| Tmem232 |
A |
T |
17: 65,743,328 (GRCm39) |
M321K |
probably damaging |
Het |
| Tnfsf11 |
A |
G |
14: 78,537,309 (GRCm39) |
M118T |
probably benign |
Het |
| Tns1 |
T |
A |
1: 73,953,790 (GRCm39) |
N1848Y |
probably damaging |
Het |
| Ttc27 |
T |
G |
17: 75,147,455 (GRCm39) |
I669S |
probably benign |
Het |
| Uaca |
A |
G |
9: 60,779,035 (GRCm39) |
S1141G |
probably benign |
Het |
| Usp34 |
T |
A |
11: 23,367,676 (GRCm39) |
V1671E |
probably damaging |
Het |
| Wdr64 |
T |
A |
1: 175,597,172 (GRCm39) |
L73H |
probably benign |
Het |
| Zfp410 |
G |
A |
12: 84,374,206 (GRCm39) |
R181H |
probably damaging |
Het |
|
| Other mutations in D6Ertd527e |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
Bursting
|
UTSW |
6 |
87,088,299 (GRCm39) |
missense |
unknown |
|
|
R0739_D6Ertd527e_618
|
UTSW |
6 |
87,088,650 (GRCm39) |
missense |
unknown |
|
|
sonenschein
|
UTSW |
6 |
87,088,506 (GRCm39) |
missense |
unknown |
|
|
R0325:D6Ertd527e
|
UTSW |
6 |
87,088,277 (GRCm39) |
missense |
unknown |
|
|
R0415:D6Ertd527e
|
UTSW |
6 |
87,088,506 (GRCm39) |
missense |
unknown |
|
|
R0607:D6Ertd527e
|
UTSW |
6 |
87,088,887 (GRCm39) |
missense |
unknown |
|
|
R0739:D6Ertd527e
|
UTSW |
6 |
87,088,650 (GRCm39) |
missense |
unknown |
|
|
R0992:D6Ertd527e
|
UTSW |
6 |
87,088,506 (GRCm39) |
missense |
unknown |
|
|
R0993:D6Ertd527e
|
UTSW |
6 |
87,088,506 (GRCm39) |
missense |
unknown |
|
|
R1193:D6Ertd527e
|
UTSW |
6 |
87,088,506 (GRCm39) |
missense |
unknown |
|
|
R1195:D6Ertd527e
|
UTSW |
6 |
87,088,506 (GRCm39) |
missense |
unknown |
|
|
R1195:D6Ertd527e
|
UTSW |
6 |
87,088,506 (GRCm39) |
missense |
unknown |
|
|
R1195:D6Ertd527e
|
UTSW |
6 |
87,088,506 (GRCm39) |
missense |
unknown |
|
|
R1196:D6Ertd527e
|
UTSW |
6 |
87,088,506 (GRCm39) |
missense |
unknown |
|
|
R1386:D6Ertd527e
|
UTSW |
6 |
87,088,506 (GRCm39) |
missense |
unknown |
|
|
R1413:D6Ertd527e
|
UTSW |
6 |
87,088,335 (GRCm39) |
missense |
unknown |
|
|
R1485:D6Ertd527e
|
UTSW |
6 |
87,088,067 (GRCm39) |
missense |
unknown |
|
|
R1560:D6Ertd527e
|
UTSW |
6 |
87,088,506 (GRCm39) |
missense |
unknown |
|
|
R1561:D6Ertd527e
|
UTSW |
6 |
87,088,506 (GRCm39) |
missense |
unknown |
|
|
R1568:D6Ertd527e
|
UTSW |
6 |
87,088,506 (GRCm39) |
missense |
unknown |
|
|
R2290:D6Ertd527e
|
UTSW |
6 |
87,088,527 (GRCm39) |
missense |
unknown |
|
|
R4461:D6Ertd527e
|
UTSW |
6 |
87,088,299 (GRCm39) |
missense |
unknown |
|
|
R4836:D6Ertd527e
|
UTSW |
6 |
87,088,406 (GRCm39) |
small insertion |
probably benign |
|
|
R5102:D6Ertd527e
|
UTSW |
6 |
87,088,793 (GRCm39) |
missense |
unknown |
|
|
R5149:D6Ertd527e
|
UTSW |
6 |
87,088,506 (GRCm39) |
missense |
unknown |
|
|
R5150:D6Ertd527e
|
UTSW |
6 |
87,088,506 (GRCm39) |
missense |
unknown |
|
|
R5681:D6Ertd527e
|
UTSW |
6 |
87,088,188 (GRCm39) |
missense |
unknown |
|
|
R6250:D6Ertd527e
|
UTSW |
6 |
87,088,194 (GRCm39) |
missense |
unknown |
|
|
R6398:D6Ertd527e
|
UTSW |
6 |
87,088,506 (GRCm39) |
missense |
unknown |
|
|
R6441:D6Ertd527e
|
UTSW |
6 |
87,088,506 (GRCm39) |
missense |
unknown |
|
|
R7001:D6Ertd527e
|
UTSW |
6 |
87,088,194 (GRCm39) |
missense |
unknown |
|
|
R7142:D6Ertd527e
|
UTSW |
6 |
87,088,506 (GRCm39) |
missense |
unknown |
|
|
R7297:D6Ertd527e
|
UTSW |
6 |
87,088,506 (GRCm39) |
missense |
unknown |
|
|
R7821:D6Ertd527e
|
UTSW |
6 |
87,087,879 (GRCm39) |
missense |
unknown |
|
|
R8047:D6Ertd527e
|
UTSW |
6 |
87,088,454 (GRCm39) |
missense |
unknown |
|
|
R8827:D6Ertd527e
|
UTSW |
6 |
87,088,226 (GRCm39) |
missense |
unknown |
|
|
R9038:D6Ertd527e
|
UTSW |
6 |
87,089,233 (GRCm39) |
makesense |
probably null |
|
|
R9503:D6Ertd527e
|
UTSW |
6 |
87,088,839 (GRCm39) |
missense |
unknown |
|
|
R9535:D6Ertd527e
|
UTSW |
6 |
87,088,839 (GRCm39) |
missense |
unknown |
|
|
R9537:D6Ertd527e
|
UTSW |
6 |
87,088,839 (GRCm39) |
missense |
unknown |
|
|
R9538:D6Ertd527e
|
UTSW |
6 |
87,088,839 (GRCm39) |
missense |
unknown |
|
|
R9593:D6Ertd527e
|
UTSW |
6 |
87,088,839 (GRCm39) |
missense |
unknown |
|
|
R9635:D6Ertd527e
|
UTSW |
6 |
87,088,839 (GRCm39) |
missense |
unknown |
|
|
R9639:D6Ertd527e
|
UTSW |
6 |
87,088,839 (GRCm39) |
missense |
unknown |
|
|
R9664:D6Ertd527e
|
UTSW |
6 |
87,088,908 (GRCm39) |
missense |
unknown |
|
|
R9669:D6Ertd527e
|
UTSW |
6 |
87,088,839 (GRCm39) |
missense |
unknown |
|
|
R9672:D6Ertd527e
|
UTSW |
6 |
87,088,839 (GRCm39) |
missense |
unknown |
|
|
R9734:D6Ertd527e
|
UTSW |
6 |
87,088,839 (GRCm39) |
missense |
unknown |
|
|
R9735:D6Ertd527e
|
UTSW |
6 |
87,088,839 (GRCm39) |
missense |
unknown |
|
|
R9736:D6Ertd527e
|
UTSW |
6 |
87,088,839 (GRCm39) |
missense |
unknown |
|
|
R9737:D6Ertd527e
|
UTSW |
6 |
87,088,839 (GRCm39) |
missense |
unknown |
|
|
R9740:D6Ertd527e
|
UTSW |
6 |
87,088,839 (GRCm39) |
missense |
unknown |
|
|
R9767:D6Ertd527e
|
UTSW |
6 |
87,088,839 (GRCm39) |
missense |
unknown |
|
|
R9769:D6Ertd527e
|
UTSW |
6 |
87,088,839 (GRCm39) |
missense |
unknown |
|
|
R9770:D6Ertd527e
|
UTSW |
6 |
87,088,839 (GRCm39) |
missense |
unknown |
|
|
R9783:D6Ertd527e
|
UTSW |
6 |
87,088,602 (GRCm39) |
missense |
unknown |
|
|
S24628:D6Ertd527e
|
UTSW |
6 |
87,088,506 (GRCm39) |
missense |
unknown |
|
|
V1662:D6Ertd527e
|
UTSW |
6 |
87,088,874 (GRCm39) |
missense |
unknown |
|
|
| Predicted Primers |
|
| Posted On |
2015-05-14 |
Incidental Mutation