Incidental Mutation 'R8047:D6Ertd527e'
| ID |
618811 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
D6Ertd527e
|
| Ensembl Gene |
ENSMUSG00000090891 |
| Gene Name |
DNA segment, Chr 6, ERATO Doi 527, expressed |
| Synonyms |
|
| MMRRC Submission |
067484-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.166)
|
| Stock # |
R8047 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
6 |
| Chromosomal Location |
87081729-87089979 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 87088454 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Phenylalanine
at position 206
(V206F)
|
| 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: V205F
|
| SMART Domains |
Protein: ENSMUSP00000130803
Gene: ENSMUSG00000090891
AA Change: V205F
| 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 |
unknown
Transcript: ENSMUST00000203747
AA Change: V205F
|
| SMART Domains |
Protein: ENSMUSP00000144761
Gene: ENSMUSG00000090891
AA Change: V205F
| 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: V206F
|
| SMART Domains |
Protein: ENSMUSP00000145529
Gene: ENSMUSG00000090891
AA Change: V206F
| 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 |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.2%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 52 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abce1 |
G |
A |
8: 80,427,817 (GRCm39) |
T157I |
possibly damaging |
Het |
| Cd200l2 |
T |
C |
16: 45,340,829 (GRCm39) |
I245V |
probably benign |
Het |
| Cdh22 |
G |
A |
2: 165,012,687 (GRCm39) |
R133W |
probably damaging |
Het |
| Cep152 |
A |
T |
2: 125,406,247 (GRCm39) |
N1428K |
probably benign |
Het |
| Clstn3 |
T |
A |
6: 124,408,972 (GRCm39) |
D892V |
possibly damaging |
Het |
| Coch |
G |
A |
12: 51,650,496 (GRCm39) |
|
probably null |
Het |
| Dnaaf9 |
A |
T |
2: 130,617,019 (GRCm39) |
V439E |
probably damaging |
Het |
| Dock3 |
T |
C |
9: 106,870,208 (GRCm39) |
I625M |
possibly damaging |
Het |
| Dpy19l4 |
A |
G |
4: 11,317,139 (GRCm39) |
S20P |
probably benign |
Het |
| Eef1e1 |
T |
C |
13: 38,830,222 (GRCm39) |
Q150R |
probably damaging |
Het |
| Eln |
CTCCAGCTCCGAT |
C |
5: 134,758,003 (GRCm39) |
|
probably benign |
Het |
| Engase |
T |
C |
11: 118,377,282 (GRCm39) |
S526P |
probably benign |
Het |
| Fbxo40 |
T |
A |
16: 36,790,231 (GRCm39) |
D293V |
probably damaging |
Het |
| Gipc3 |
T |
A |
10: 81,177,132 (GRCm39) |
N146I |
probably damaging |
Het |
| Gm11569 |
T |
C |
11: 99,689,616 (GRCm39) |
T28A |
unknown |
Het |
| Gm43302 |
T |
C |
5: 105,422,623 (GRCm39) |
I470V |
possibly damaging |
Het |
| Gpihbp1 |
A |
G |
15: 75,469,627 (GRCm39) |
Q114R |
possibly damaging |
Het |
| Grhl2 |
T |
A |
15: 37,336,465 (GRCm39) |
M454K |
probably benign |
Het |
| Gsap |
A |
T |
5: 21,462,866 (GRCm39) |
|
probably null |
Het |
| Ighv6-5 |
T |
C |
12: 114,380,191 (GRCm39) |
|
probably null |
Het |
| Kif1b |
C |
A |
4: 149,299,379 (GRCm39) |
V1010L |
probably damaging |
Het |
| Krt8 |
A |
T |
15: 101,912,406 (GRCm39) |
I90N |
probably damaging |
Het |
| Lrrc69 |
A |
T |
4: 14,773,726 (GRCm39) |
I110N |
probably benign |
Het |
| Lta |
T |
C |
17: 35,423,011 (GRCm39) |
Y104C |
probably damaging |
Het |
| Madd |
A |
G |
2: 91,009,546 (GRCm39) |
Y13H |
probably damaging |
Het |
| Mccc2 |
C |
T |
13: 100,091,181 (GRCm39) |
V439I |
probably benign |
Het |
| Mecom |
T |
A |
3: 30,292,404 (GRCm39) |
D35V |
|
Het |
| Msra |
C |
T |
14: 64,522,612 (GRCm39) |
A76T |
probably damaging |
Het |
| Myo18b |
G |
T |
5: 112,871,681 (GRCm39) |
D2133E |
possibly damaging |
Het |
| Ncapd2 |
C |
T |
6: 125,166,762 (GRCm39) |
V31M |
probably damaging |
Het |
| Npc1 |
A |
G |
18: 12,346,374 (GRCm39) |
V274A |
probably benign |
Het |
| Or5m11b |
T |
C |
2: 85,806,271 (GRCm39) |
I228T |
possibly damaging |
Het |
| Patz1 |
C |
T |
11: 3,256,283 (GRCm39) |
P523L |
probably benign |
Het |
| Pbx2 |
T |
C |
17: 34,814,262 (GRCm39) |
S350P |
probably benign |
Het |
| Plk4 |
T |
C |
3: 40,760,187 (GRCm39) |
I361T |
probably benign |
Het |
| Ppat |
G |
T |
5: 77,073,557 (GRCm39) |
N122K |
probably damaging |
Het |
| Prss23 |
T |
A |
7: 89,159,136 (GRCm39) |
Q311L |
probably damaging |
Het |
| Psg26 |
G |
T |
7: 18,212,474 (GRCm39) |
Q294K |
possibly damaging |
Het |
| Rab3il1 |
G |
T |
19: 10,011,166 (GRCm39) |
R285L |
probably benign |
Het |
| Radil |
A |
G |
5: 142,480,695 (GRCm39) |
C587R |
probably damaging |
Het |
| Rd3 |
A |
T |
1: 191,709,620 (GRCm39) |
|
probably benign |
Het |
| Reck |
T |
C |
4: 43,927,221 (GRCm39) |
L504P |
probably damaging |
Het |
| Rmc1 |
C |
T |
18: 12,313,586 (GRCm39) |
T233M |
possibly damaging |
Het |
| Selenov |
A |
C |
7: 27,990,108 (GRCm39) |
L132R |
probably benign |
Het |
| Spag16 |
A |
T |
1: 69,882,155 (GRCm39) |
D49V |
probably damaging |
Het |
| Ston2 |
C |
T |
12: 91,608,617 (GRCm39) |
V828I |
probably damaging |
Het |
| Tiam1 |
A |
G |
16: 89,694,672 (GRCm39) |
S262P |
probably benign |
Het |
| Tlnrd1 |
A |
T |
7: 83,532,069 (GRCm39) |
S121T |
probably damaging |
Het |
| Unc13c |
T |
A |
9: 73,719,636 (GRCm39) |
K1011* |
probably null |
Het |
| Vmn2r89 |
T |
A |
14: 51,692,549 (GRCm39) |
D117E |
probably benign |
Het |
| Zbtb7c |
A |
C |
18: 76,270,221 (GRCm39) |
N103T |
probably damaging |
Het |
| Zfp764 |
T |
C |
7: 127,005,412 (GRCm39) |
E75G |
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 |
|
|
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 |
|
|
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'- TGGTTGATCCAGAAGACATGTG -3'
(R):5'- GCTGCTGTTGTCATAGTTGC -3'
Sequencing Primer
(F):5'- ACAGCAGCAGCATCTCTTG -3'
(R):5'- ATAGTTGCTGATGTTGCCCC -3'
|
| Posted On |
2020-01-23 |
Incidental Mutation