Incidental Mutation 'R1195:D6Ertd527e'
| ID |
197531 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
D6Ertd527e
|
| Ensembl Gene |
ENSMUSG00000090891 |
| Gene Name |
DNA segment, Chr 6, ERATO Doi 527, expressed |
| Synonyms |
|
| MMRRC Submission |
039267-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.168)
|
| Stock # |
R1195 (G1)
|
| Quality Score |
225 |
|
Status
|
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: 97.4%
- 3x: 96.9%
- 10x: 95.4%
- 20x: 92.8%
|
| Validation Efficiency |
100% (39/39) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 40 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Agtr1a |
C |
A |
13: 30,565,901 (GRCm39) |
P322Q |
probably damaging |
Het |
| Amh |
AGCGCCTTGG |
AG |
10: 80,641,419 (GRCm39) |
|
probably null |
Het |
| Brd1 |
T |
C |
15: 88,585,014 (GRCm39) |
E940G |
probably benign |
Het |
| Cd163 |
T |
A |
6: 124,302,209 (GRCm39) |
|
probably benign |
Het |
| Cd28 |
C |
T |
1: 60,802,303 (GRCm39) |
T74I |
possibly damaging |
Het |
| Cntnap2 |
T |
A |
6: 46,460,902 (GRCm39) |
M646K |
probably benign |
Het |
| Cyb5d1 |
C |
T |
11: 69,285,797 (GRCm39) |
|
probably null |
Het |
| Dab2ip |
T |
C |
2: 35,608,757 (GRCm39) |
|
probably benign |
Het |
| Dnajc25 |
C |
T |
4: 59,003,415 (GRCm39) |
A62V |
probably damaging |
Het |
| Dst |
A |
G |
1: 34,250,235 (GRCm39) |
D4063G |
probably damaging |
Het |
| Elmod1 |
T |
C |
9: 53,843,052 (GRCm39) |
Y42C |
probably damaging |
Het |
| Hdac5 |
T |
C |
11: 102,096,332 (GRCm39) |
I310V |
probably damaging |
Het |
| Hpx |
A |
G |
7: 105,248,856 (GRCm39) |
|
probably benign |
Het |
| Ighv10-1 |
A |
T |
12: 114,443,015 (GRCm39) |
|
probably benign |
Het |
| Igsf3 |
A |
G |
3: 101,365,419 (GRCm39) |
D1130G |
probably benign |
Het |
| Katnip |
A |
G |
7: 125,465,654 (GRCm39) |
R1343G |
probably damaging |
Het |
| Kdm4d |
A |
G |
9: 14,374,395 (GRCm39) |
S488P |
probably benign |
Het |
| Lingo2 |
A |
G |
4: 35,708,538 (GRCm39) |
Y481H |
probably damaging |
Het |
| Ltbp1 |
A |
G |
17: 75,532,280 (GRCm39) |
Q118R |
possibly damaging |
Het |
| Map3k20 |
C |
T |
2: 72,268,562 (GRCm39) |
P523L |
probably damaging |
Het |
| Msx1 |
A |
G |
5: 37,978,625 (GRCm39) |
Y297H |
probably damaging |
Het |
| Myo9a |
A |
G |
9: 59,802,483 (GRCm39) |
D1990G |
probably damaging |
Het |
| Niban2 |
T |
C |
2: 32,809,815 (GRCm39) |
V304A |
probably benign |
Het |
| Perp |
C |
A |
10: 18,731,483 (GRCm39) |
Y147* |
probably null |
Het |
| Prr16 |
A |
T |
18: 51,435,755 (GRCm39) |
D78V |
probably damaging |
Het |
| Rfx7 |
C |
T |
9: 72,525,228 (GRCm39) |
T806M |
probably damaging |
Het |
| Robo2 |
T |
C |
16: 73,713,016 (GRCm39) |
|
probably null |
Het |
| Sema5b |
A |
T |
16: 35,472,030 (GRCm39) |
E496V |
probably null |
Het |
| Shf |
G |
A |
2: 122,199,163 (GRCm39) |
P51S |
probably damaging |
Het |
| Spdl1 |
T |
C |
11: 34,710,644 (GRCm39) |
Y368C |
probably damaging |
Het |
| Sptbn2 |
G |
C |
19: 4,795,921 (GRCm39) |
R1700P |
possibly damaging |
Het |
| Tenm2 |
C |
T |
11: 35,954,004 (GRCm39) |
G1236R |
possibly damaging |
Het |
| Tln2 |
T |
G |
9: 67,165,848 (GRCm39) |
K1000Q |
probably damaging |
Het |
| Tmbim7 |
A |
G |
5: 3,711,943 (GRCm39) |
T63A |
probably benign |
Het |
| Tmed11 |
T |
C |
5: 108,926,885 (GRCm39) |
D129G |
possibly damaging |
Het |
| Ttc28 |
G |
A |
5: 111,373,543 (GRCm39) |
S962N |
probably damaging |
Het |
| Ttll6 |
T |
C |
11: 96,026,555 (GRCm39) |
I113T |
probably damaging |
Het |
| Uso1 |
T |
A |
5: 92,318,606 (GRCm39) |
F210L |
probably damaging |
Het |
| Uspl1 |
T |
A |
5: 149,131,131 (GRCm39) |
V224E |
probably benign |
Het |
| Zfp639 |
G |
A |
3: 32,573,345 (GRCm39) |
V86I |
possibly 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 |
|
|
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 |
|
|
R4155:D6Ertd527e
|
UTSW |
6 |
87,088,506 (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 |
PCR Primer
(F):5'- AGCATCAGACCTAGTAACAGGGGC -3'
(R):5'- GCTGCTGCTACTGCTGCTGC -3'
Sequencing Primer
(F):5'- gcagcatcagcaactatgac -3'
(R):5'- tactgctgctgctgctg -3'
|
| Posted On |
2014-05-23 |
Incidental Mutation