Incidental Mutation 'R1196:D6Ertd527e'
| ID |
101113 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
D6Ertd527e
|
| Ensembl Gene |
ENSMUSG00000090891 |
| Gene Name |
DNA segment, Chr 6, ERATO Doi 527, expressed |
| Synonyms |
|
| MMRRC Submission |
039268-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.166)
|
| Stock # |
R1196 (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: 99.4%
- 3x: 98.3%
- 10x: 94.9%
- 20x: 86.8%
|
| Validation Efficiency |
97% (38/39) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 31 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acacb |
T |
C |
5: 114,383,153 (GRCm39) |
I2112T |
probably benign |
Het |
| Agtpbp1 |
C |
A |
13: 59,598,132 (GRCm39) |
|
probably benign |
Het |
| Ash1l |
T |
C |
3: 88,890,623 (GRCm39) |
M834T |
probably damaging |
Het |
| Aspg |
A |
G |
12: 112,082,958 (GRCm39) |
T213A |
possibly damaging |
Het |
| Chpf2 |
T |
C |
5: 24,794,646 (GRCm39) |
V272A |
possibly damaging |
Het |
| Ddah2 |
G |
T |
17: 35,280,503 (GRCm39) |
D215Y |
probably damaging |
Het |
| Dna2 |
C |
T |
10: 62,784,966 (GRCm39) |
R28W |
probably benign |
Het |
| Fbrsl1 |
T |
A |
5: 110,522,385 (GRCm39) |
M150L |
probably benign |
Het |
| Hmces |
T |
A |
6: 87,913,164 (GRCm39) |
D306E |
probably benign |
Het |
| Itga2 |
C |
T |
13: 115,002,691 (GRCm39) |
|
probably null |
Het |
| Jmjd1c |
T |
C |
10: 67,075,015 (GRCm39) |
|
probably benign |
Het |
| Krr1 |
T |
A |
10: 111,811,562 (GRCm39) |
H85Q |
probably benign |
Het |
| Krt87 |
C |
T |
15: 101,389,314 (GRCm39) |
R6Q |
probably benign |
Het |
| Krtap24-1 |
T |
C |
16: 88,408,530 (GRCm39) |
M199V |
probably benign |
Het |
| Krtap5-2 |
A |
T |
7: 141,728,620 (GRCm39) |
C353* |
probably null |
Het |
| Myo7a |
T |
G |
7: 97,746,880 (GRCm39) |
I178L |
possibly damaging |
Het |
| Myof |
G |
A |
19: 37,899,408 (GRCm39) |
T1043I |
probably damaging |
Het |
| Noc4l |
C |
T |
5: 110,798,450 (GRCm39) |
E247K |
probably damaging |
Het |
| Notch4 |
T |
C |
17: 34,787,837 (GRCm39) |
C437R |
probably damaging |
Het |
| Nrbp1 |
T |
A |
5: 31,403,157 (GRCm39) |
I210N |
probably damaging |
Het |
| Or4p19 |
A |
T |
2: 88,242,890 (GRCm39) |
N37K |
probably damaging |
Het |
| Or7e168 |
A |
G |
9: 19,719,928 (GRCm39) |
I105V |
probably benign |
Het |
| Pank4 |
T |
C |
4: 155,062,630 (GRCm39) |
F584L |
probably damaging |
Het |
| Prl2c2 |
G |
C |
13: 13,176,786 (GRCm39) |
T47R |
probably damaging |
Het |
| Ranbp2 |
T |
A |
10: 58,312,875 (GRCm39) |
F1198L |
probably damaging |
Het |
| Sf3b1 |
C |
G |
1: 55,058,554 (GRCm39) |
E12Q |
possibly damaging |
Het |
| Tent5c |
T |
C |
3: 100,380,316 (GRCm39) |
T147A |
possibly damaging |
Het |
| Ttc28 |
G |
A |
5: 111,373,543 (GRCm39) |
S962N |
probably damaging |
Het |
| Unc13a |
A |
G |
8: 72,107,630 (GRCm39) |
I554T |
probably damaging |
Het |
| Zfc3h1 |
A |
G |
10: 115,247,866 (GRCm39) |
D1023G |
probably damaging |
Het |
| Zfp791 |
T |
A |
8: 85,837,583 (GRCm39) |
K94* |
probably null |
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 |
|
|
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 |
2014-01-15 |
Incidental Mutation