Incidental Mutation 'R3699:D7Ertd443e'
| ID |
269920 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
D7Ertd443e
|
| Ensembl Gene |
ENSMUSG00000030994 |
| Gene Name |
DNA segment, Chr 7, ERATO Doi 443, expressed |
| Synonyms |
4933400E14Rik |
| MMRRC Submission |
040692-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R3699 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
133867508-134102889 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 133950797 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Proline
at position 292
(L292P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000134479
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000094002]
[ENSMUST00000172947]
[ENSMUST00000173195]
[ENSMUST00000173754]
[ENSMUST00000174700]
|
| AlphaFold |
D2J0Y4 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000094002
AA Change: L245P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000091539
Gene: ENSMUSG00000030994
AA Change: L245P
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
179 |
192 |
N/A |
INTRINSIC |
|
low complexity region
|
238 |
249 |
N/A |
INTRINSIC |
|
low complexity region
|
279 |
292 |
N/A |
INTRINSIC |
|
low complexity region
|
396 |
410 |
N/A |
INTRINSIC |
|
low complexity region
|
478 |
494 |
N/A |
INTRINSIC |
|
Pfam:ALMS_motif
|
511 |
644 |
3.7e-39 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000172947
AA Change: L292P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000134479
Gene: ENSMUSG00000030994
AA Change: L292P
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
226 |
239 |
N/A |
INTRINSIC |
|
low complexity region
|
285 |
296 |
N/A |
INTRINSIC |
|
low complexity region
|
326 |
339 |
N/A |
INTRINSIC |
|
low complexity region
|
443 |
457 |
N/A |
INTRINSIC |
|
low complexity region
|
525 |
541 |
N/A |
INTRINSIC |
|
Pfam:ALMS_motif
|
559 |
689 |
1.2e-52 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000173195
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000173754
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000174700
|
| SMART Domains |
Protein: ENSMUSP00000134411
Gene: ENSMUSG00000030994
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:ALMS_motif
|
25 |
98 |
2.3e-12 |
PFAM |
|
| Meta Mutation Damage Score |
0.2952 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 94.8%
|
| Validation Efficiency |
100% (33/33) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 29 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ankrd29 |
G |
A |
18: 12,387,757 (GRCm39) |
A275V |
possibly damaging |
Het |
| Atp1b2 |
G |
A |
11: 69,496,095 (GRCm39) |
T35I |
probably benign |
Het |
| Baz1a |
A |
G |
12: 54,963,831 (GRCm39) |
V751A |
probably benign |
Het |
| Cdh23 |
C |
A |
10: 60,163,149 (GRCm39) |
|
probably null |
Het |
| Chd2 |
G |
T |
7: 73,118,238 (GRCm39) |
L1127I |
probably benign |
Het |
| Dst |
T |
C |
1: 34,252,155 (GRCm39) |
|
probably benign |
Het |
| Dync2i1 |
C |
T |
12: 116,175,462 (GRCm39) |
W905* |
probably null |
Het |
| Gm8229 |
T |
A |
14: 44,603,984 (GRCm39) |
S58T |
unknown |
Het |
| Gucy2c |
A |
T |
6: 136,747,109 (GRCm39) |
C117S |
probably damaging |
Het |
| Kirrel1 |
C |
T |
3: 86,996,458 (GRCm39) |
M380I |
probably null |
Het |
| Klhl18 |
A |
G |
9: 110,265,134 (GRCm39) |
Y291H |
probably benign |
Het |
| Lamc1 |
G |
T |
1: 153,130,951 (GRCm39) |
S333R |
possibly damaging |
Het |
| Lbr |
T |
C |
1: 181,646,485 (GRCm39) |
Y479C |
probably damaging |
Het |
| Nampt |
T |
C |
12: 32,898,758 (GRCm39) |
|
probably benign |
Het |
| Or10am5 |
A |
G |
7: 6,517,993 (GRCm39) |
M145T |
probably damaging |
Het |
| Pcnx3 |
G |
T |
19: 5,722,493 (GRCm39) |
R1400S |
probably damaging |
Het |
| Pde4b |
C |
T |
4: 102,458,742 (GRCm39) |
A466V |
probably damaging |
Het |
| Piezo1 |
C |
T |
8: 123,221,642 (GRCm39) |
R584H |
probably damaging |
Het |
| Polq |
C |
A |
16: 36,862,518 (GRCm39) |
S338Y |
probably damaging |
Het |
| Pramel26 |
A |
G |
4: 143,536,922 (GRCm39) |
S470P |
probably benign |
Het |
| Rassf8 |
T |
C |
6: 145,765,802 (GRCm39) |
|
probably benign |
Het |
| Rere |
A |
T |
4: 150,561,819 (GRCm39) |
|
probably null |
Het |
| Rps6kb1 |
A |
G |
11: 86,423,620 (GRCm39) |
F120S |
probably damaging |
Het |
| Scarf1 |
G |
T |
11: 75,405,195 (GRCm39) |
C78F |
probably damaging |
Het |
| Tepsin |
C |
T |
11: 119,982,579 (GRCm39) |
C491Y |
possibly damaging |
Het |
| Trpv4 |
A |
G |
5: 114,772,861 (GRCm39) |
S243P |
probably damaging |
Het |
| Whrn |
A |
T |
4: 63,379,649 (GRCm39) |
|
probably benign |
Het |
| Zfp521 |
G |
T |
18: 13,979,330 (GRCm39) |
S361* |
probably null |
Het |
| Zfyve19 |
A |
G |
2: 119,041,720 (GRCm39) |
T96A |
probably benign |
Het |
|
| Other mutations in D7Ertd443e |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02159:D7Ertd443e
|
APN |
7 |
133,951,129 (GRCm39) |
missense |
possibly damaging |
0.56 |
|
R0369:D7Ertd443e
|
UTSW |
7 |
133,899,866 (GRCm39) |
missense |
possibly damaging |
0.56 |
|
R0501:D7Ertd443e
|
UTSW |
7 |
133,896,701 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1073:D7Ertd443e
|
UTSW |
7 |
133,871,947 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1083:D7Ertd443e
|
UTSW |
7 |
133,950,663 (GRCm39) |
nonsense |
probably null |
|
|
R1744:D7Ertd443e
|
UTSW |
7 |
133,951,142 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1801:D7Ertd443e
|
UTSW |
7 |
133,871,941 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1807:D7Ertd443e
|
UTSW |
7 |
133,895,034 (GRCm39) |
missense |
probably null |
1.00 |
|
R2050:D7Ertd443e
|
UTSW |
7 |
133,868,527 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2273:D7Ertd443e
|
UTSW |
7 |
133,871,930 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2274:D7Ertd443e
|
UTSW |
7 |
133,871,930 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2504:D7Ertd443e
|
UTSW |
7 |
133,951,208 (GRCm39) |
splice site |
probably null |
|
|
R4348:D7Ertd443e
|
UTSW |
7 |
133,950,682 (GRCm39) |
frame shift |
probably null |
|
|
R4516:D7Ertd443e
|
UTSW |
7 |
133,895,057 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5123:D7Ertd443e
|
UTSW |
7 |
133,951,397 (GRCm39) |
splice site |
probably null |
|
|
R5440:D7Ertd443e
|
UTSW |
7 |
133,951,004 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R5555:D7Ertd443e
|
UTSW |
7 |
133,951,320 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5711:D7Ertd443e
|
UTSW |
7 |
133,951,110 (GRCm39) |
missense |
probably benign |
0.43 |
|
R5848:D7Ertd443e
|
UTSW |
7 |
133,951,451 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R6049:D7Ertd443e
|
UTSW |
7 |
133,899,961 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6266:D7Ertd443e
|
UTSW |
7 |
133,951,514 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6408:D7Ertd443e
|
UTSW |
7 |
133,951,440 (GRCm39) |
missense |
probably benign |
0.27 |
|
R6939:D7Ertd443e
|
UTSW |
7 |
133,966,208 (GRCm39) |
splice site |
probably null |
|
|
R7195:D7Ertd443e
|
UTSW |
7 |
133,896,851 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7352:D7Ertd443e
|
UTSW |
7 |
133,951,123 (GRCm39) |
missense |
probably benign |
0.03 |
|
R7737:D7Ertd443e
|
UTSW |
7 |
133,871,930 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7843:D7Ertd443e
|
UTSW |
7 |
133,950,824 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R7845:D7Ertd443e
|
UTSW |
7 |
133,871,977 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8346:D7Ertd443e
|
UTSW |
7 |
133,950,485 (GRCm39) |
missense |
possibly damaging |
0.63 |
|
R9120:D7Ertd443e
|
UTSW |
7 |
133,871,986 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9166:D7Ertd443e
|
UTSW |
7 |
133,900,048 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9773:D7Ertd443e
|
UTSW |
7 |
133,959,803 (GRCm39) |
missense |
probably benign |
0.00 |
|
Z1088:D7Ertd443e
|
UTSW |
7 |
133,896,711 (GRCm39) |
missense |
probably benign |
0.03 |
|
| Predicted Primers |
PCR Primer
(F):5'- TCCCCAAATGTACTGGCACC -3'
(R):5'- TGAGTGCAAGGCAGGACTAC -3'
Sequencing Primer
(F):5'- CCAATGCTGGGCTCTCC -3'
(R):5'- CGAATGACAATGAGGACAGTTTTTC -3'
|
| Posted On |
2015-03-18 |
Incidental Mutation