Incidental Mutation 'R9537:D6Ertd527e'
| ID |
719739 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
D6Ertd527e
|
| Ensembl Gene |
ENSMUSG00000090891 |
| Gene Name |
DNA segment, Chr 6, ERATO Doi 527, expressed |
| Synonyms |
|
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.168)
|
| Stock # |
R9537 (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 C
at 87088839 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Threonine
at position 334
(S334T)
|
| 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: S333T
|
| SMART Domains |
Protein: ENSMUSP00000130803
Gene: ENSMUSG00000090891
AA Change: S333T
| 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: S333T
|
| SMART Domains |
Protein: ENSMUSP00000144761
Gene: ENSMUSG00000090891
AA Change: S333T
| 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: S334T
|
| SMART Domains |
Protein: ENSMUSP00000145529
Gene: ENSMUSG00000090891
AA Change: S334T
| 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: 99.9%
- 10x: 99.7%
- 20x: 99.0%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 41 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgra3 |
A |
G |
5: 50,118,207 (GRCm39) |
Y1114H |
possibly damaging |
Het |
| Atp5pf |
A |
G |
16: 84,625,358 (GRCm39) |
Y82H |
probably damaging |
Het |
| Bcl2a1d |
T |
G |
9: 88,613,526 (GRCm39) |
I83L |
probably benign |
Het |
| Bean1 |
CT |
C |
8: 104,908,664 (GRCm39) |
|
probably null |
Het |
| Bglap3 |
T |
C |
3: 88,276,139 (GRCm39) |
D71G |
probably benign |
Het |
| Bnip3l |
G |
A |
14: 67,246,214 (GRCm39) |
P7L |
possibly damaging |
Het |
| Chmp2b |
T |
C |
16: 65,347,932 (GRCm39) |
K15E |
probably benign |
Het |
| Chrm3 |
A |
T |
13: 9,927,462 (GRCm39) |
W525R |
probably damaging |
Het |
| Col7a1 |
A |
T |
9: 108,784,420 (GRCm39) |
K143* |
probably null |
Het |
| Dnai1 |
A |
G |
4: 41,629,790 (GRCm39) |
|
probably null |
Het |
| Dnhd1 |
G |
A |
7: 105,344,740 (GRCm39) |
G2028D |
probably damaging |
Het |
| Esyt3 |
C |
T |
9: 99,199,292 (GRCm39) |
R773Q |
probably damaging |
Het |
| Ffar1 |
T |
C |
7: 30,560,025 (GRCm39) |
T291A |
probably benign |
Het |
| Golga2 |
G |
T |
2: 32,178,313 (GRCm39) |
|
probably benign |
Het |
| Hapln2 |
T |
A |
3: 87,931,780 (GRCm39) |
|
probably null |
Het |
| Ing1 |
T |
C |
8: 11,611,889 (GRCm39) |
L203P |
probably benign |
Het |
| Litafd |
G |
T |
16: 8,501,177 (GRCm39) |
C11F |
|
Het |
| Mab21l4 |
T |
C |
1: 93,080,884 (GRCm39) |
K341E |
possibly damaging |
Het |
| Med1 |
T |
C |
11: 98,062,586 (GRCm39) |
T171A |
possibly damaging |
Het |
| Mib2 |
A |
T |
4: 155,741,952 (GRCm39) |
L387H |
probably damaging |
Het |
| Mier1 |
A |
G |
4: 103,019,758 (GRCm39) |
N494S |
probably benign |
Het |
| Myof |
A |
G |
19: 37,896,054 (GRCm39) |
L1847P |
probably damaging |
Het |
| Ndst3 |
A |
T |
3: 123,465,162 (GRCm39) |
V270D |
|
Het |
| Nup160 |
T |
C |
2: 90,560,088 (GRCm39) |
L1271S |
possibly damaging |
Het |
| Osgep |
A |
T |
14: 51,162,119 (GRCm39) |
|
probably null |
Het |
| Ptgfr |
G |
T |
3: 151,541,445 (GRCm39) |
T21N |
possibly damaging |
Het |
| Ptgs1 |
T |
C |
2: 36,120,739 (GRCm39) |
S23P |
unknown |
Het |
| Rsf1 |
CGGCGGCGG |
CGGCGGCGGGGGCGGCGG |
7: 97,229,121 (GRCm39) |
|
probably benign |
Het |
| Smu1 |
A |
G |
4: 40,755,671 (GRCm39) |
S65P |
probably benign |
Het |
| Spef2 |
T |
C |
15: 9,601,885 (GRCm39) |
Y1459C |
unknown |
Het |
| Spen |
A |
G |
4: 141,199,015 (GRCm39) |
V3204A |
probably benign |
Het |
| Spen |
TTGCTGCTGCTGCTGCTGCTGCTGCTG |
TTGCTGCTGCTGCTGCTGCTGCTG |
4: 141,244,156 (GRCm39) |
|
probably benign |
Het |
| Timm44 |
G |
A |
8: 4,310,576 (GRCm39) |
T392I |
possibly damaging |
Het |
| Tnc |
A |
T |
4: 63,884,821 (GRCm39) |
I1818N |
probably damaging |
Het |
| Trpm1 |
G |
T |
7: 63,803,616 (GRCm39) |
|
probably benign |
Het |
| Ttc14 |
A |
G |
3: 33,857,347 (GRCm39) |
Y231C |
probably damaging |
Het |
| Ube3b |
A |
G |
5: 114,525,245 (GRCm39) |
R23G |
probably damaging |
Het |
| Usp40 |
T |
C |
1: 87,935,117 (GRCm39) |
Y10C |
probably benign |
Het |
| Vmn2r107 |
C |
A |
17: 20,595,149 (GRCm39) |
S567R |
probably benign |
Het |
| Zfp112 |
T |
C |
7: 23,826,512 (GRCm39) |
Y831H |
probably damaging |
Het |
| Zfy2 |
T |
A |
Y: 2,108,596 (GRCm39) |
T355S |
|
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 |
|
|
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 |
|
|
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 |
2022-07-18 |
Incidental Mutation