Incidental Mutation 'R9736:D6Ertd527e'
| ID |
731669 |
| 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: 0.166)
|
| Stock # |
R9736 (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: 99.9%
- 3x: 99.7%
- 10x: 99.3%
- 20x: 98.2%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 37 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgrf2 |
A |
G |
17: 43,022,212 (GRCm39) |
I204T |
probably benign |
Het |
| Apc |
T |
A |
18: 34,450,823 (GRCm39) |
I2573N |
probably damaging |
Het |
| Ash1l |
A |
G |
3: 88,891,733 (GRCm39) |
D1204G |
probably damaging |
Het |
| Atp10a |
T |
A |
7: 58,474,078 (GRCm39) |
F1122I |
probably damaging |
Het |
| Cage1 |
A |
C |
13: 38,207,393 (GRCm39) |
S151A |
probably damaging |
Het |
| Calhm2 |
G |
A |
19: 47,121,597 (GRCm39) |
L191F |
probably benign |
Het |
| Cd109 |
C |
T |
9: 78,619,918 (GRCm39) |
P1387S |
probably damaging |
Het |
| Cdhr2 |
T |
C |
13: 54,872,041 (GRCm39) |
L635S |
possibly damaging |
Het |
| Cntfr |
T |
C |
4: 41,658,290 (GRCm39) |
T357A |
unknown |
Het |
| Cpox |
A |
G |
16: 58,494,746 (GRCm39) |
N261S |
probably benign |
Het |
| Crygb |
A |
T |
1: 65,119,707 (GRCm39) |
M91K |
probably benign |
Het |
| Ctnnd1 |
T |
C |
2: 84,442,430 (GRCm39) |
K634R |
probably benign |
Het |
| Dmgdh |
T |
G |
13: 93,843,158 (GRCm39) |
F331L |
possibly damaging |
Het |
| Dpp10 |
T |
A |
1: 123,262,088 (GRCm39) |
I765F |
possibly damaging |
Het |
| Fat2 |
T |
A |
11: 55,194,751 (GRCm39) |
D1096V |
probably damaging |
Het |
| Fhod1 |
G |
A |
8: 106,059,597 (GRCm39) |
T696I |
probably damaging |
Het |
| Gopc |
A |
T |
10: 52,229,558 (GRCm39) |
D220E |
possibly damaging |
Het |
| Grin3a |
C |
A |
4: 49,672,472 (GRCm39) |
|
probably null |
Het |
| Gsdma |
C |
T |
11: 98,567,169 (GRCm39) |
P423L |
probably damaging |
Het |
| Gucy2d |
G |
A |
7: 98,092,683 (GRCm39) |
W20* |
probably null |
Het |
| Irs2 |
G |
A |
8: 11,058,217 (GRCm39) |
R72W |
probably damaging |
Het |
| Lmo7 |
A |
G |
14: 102,157,929 (GRCm39) |
I1421V |
unknown |
Het |
| Mab21l4 |
A |
G |
1: 93,087,661 (GRCm39) |
V64A |
probably damaging |
Het |
| Micu1 |
C |
T |
10: 59,699,123 (GRCm39) |
Q467* |
probably null |
Het |
| Mycbp2 |
A |
G |
14: 103,434,852 (GRCm39) |
V2197A |
probably damaging |
Het |
| Myh2 |
T |
C |
11: 67,063,999 (GRCm39) |
S20P |
probably benign |
Het |
| Nwd2 |
A |
G |
5: 63,951,600 (GRCm39) |
I210M |
probably damaging |
Het |
| Or4k45 |
A |
T |
2: 111,395,626 (GRCm39) |
H54Q |
probably benign |
Het |
| Or5al5 |
T |
A |
2: 85,961,640 (GRCm39) |
R122S |
probably damaging |
Het |
| Or5an1c |
A |
T |
19: 12,218,920 (GRCm39) |
I35N |
probably damaging |
Het |
| Pon3 |
A |
G |
6: 5,232,339 (GRCm39) |
V227A |
probably benign |
Het |
| Psme4 |
T |
A |
11: 30,797,411 (GRCm39) |
I1309K |
probably damaging |
Het |
| Ptprm |
T |
A |
17: 66,997,562 (GRCm39) |
Y1178F |
probably damaging |
Het |
| Qser1 |
A |
G |
2: 104,619,988 (GRCm39) |
S185P |
probably benign |
Het |
| Wdr37 |
C |
A |
13: 8,911,136 (GRCm39) |
M42I |
probably benign |
Het |
| Wwp1 |
T |
A |
4: 19,631,202 (GRCm39) |
E610D |
probably damaging |
Het |
| Zbbx |
A |
G |
3: 74,968,741 (GRCm39) |
F572L |
unknown |
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 |
|
|
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 |
|
|
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 |
2022-11-14 |
Incidental Mutation