Incidental Mutation 'R5848:D7Ertd443e'
ID |
453718 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
D7Ertd443e
|
Ensembl Gene |
ENSMUSG00000030994 |
Gene Name |
DNA segment, Chr 7, ERATO Doi 443, expressed |
Synonyms |
4933400E14Rik |
MMRRC Submission |
043225-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R5848 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
7 |
Chromosomal Location |
133867508-134102889 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 133951451 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Threonine
at position 27
(I27T)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000134585
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000094002]
[ENSMUST00000172947]
[ENSMUST00000173195]
[ENSMUST00000173754]
[ENSMUST00000174700]
|
AlphaFold |
D2J0Y4 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000094002
AA Change: I27T
PolyPhen 2
Score 0.623 (Sensitivity: 0.87; Specificity: 0.91)
|
SMART Domains |
Protein: ENSMUSP00000091539 Gene: ENSMUSG00000030994 AA Change: I27T
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 benign
Transcript: ENSMUST00000172947
AA Change: I74T
PolyPhen 2
Score 0.366 (Sensitivity: 0.90; Specificity: 0.89)
|
SMART Domains |
Protein: ENSMUSP00000134479 Gene: ENSMUSG00000030994 AA Change: I74T
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 |
possibly damaging
Transcript: ENSMUST00000173195
AA Change: I27T
PolyPhen 2
Score 0.915 (Sensitivity: 0.81; Specificity: 0.94)
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000173754
AA Change: I27T
PolyPhen 2
Score 0.462 (Sensitivity: 0.89; Specificity: 0.90)
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000174271
|
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 |
|
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.0%
- 20x: 94.3%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 35 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4930553M12Rik |
T |
C |
4: 88,786,596 (GRCm39) |
I7M |
unknown |
Het |
Aadacl4 |
T |
A |
4: 144,344,428 (GRCm39) |
M68K |
probably benign |
Het |
Abca8b |
C |
A |
11: 109,868,639 (GRCm39) |
G175V |
probably damaging |
Het |
Cdcp1 |
T |
A |
9: 123,012,770 (GRCm39) |
H259L |
possibly damaging |
Het |
Ckap4 |
T |
C |
10: 84,369,354 (GRCm39) |
Q126R |
probably benign |
Het |
Clec18a |
C |
T |
8: 111,802,093 (GRCm39) |
V299I |
probably benign |
Het |
Dlg2 |
T |
G |
7: 92,093,735 (GRCm39) |
D726E |
probably benign |
Het |
Dnah8 |
T |
C |
17: 30,947,165 (GRCm39) |
I1856T |
possibly damaging |
Het |
Espl1 |
G |
A |
15: 102,231,011 (GRCm39) |
V1837I |
probably benign |
Het |
Fanca |
G |
T |
8: 124,021,792 (GRCm39) |
|
probably benign |
Het |
Fer1l5 |
A |
G |
1: 36,428,016 (GRCm39) |
T437A |
probably benign |
Het |
Gm10644 |
C |
A |
8: 84,660,668 (GRCm39) |
|
probably benign |
Het |
Katnb1 |
A |
G |
8: 95,825,340 (GRCm39) |
S635G |
probably benign |
Het |
Map3k12 |
A |
G |
15: 102,412,670 (GRCm39) |
V234A |
possibly damaging |
Het |
Mks1 |
A |
G |
11: 87,747,696 (GRCm39) |
N193S |
probably benign |
Het |
Mmp11 |
T |
C |
10: 75,763,223 (GRCm39) |
E151G |
probably damaging |
Het |
Napg |
A |
G |
18: 63,127,440 (GRCm39) |
R265G |
possibly damaging |
Het |
Odad2 |
T |
A |
18: 7,268,507 (GRCm39) |
|
probably null |
Het |
Or5e1 |
T |
A |
7: 108,354,781 (GRCm39) |
C239* |
probably null |
Het |
Or6e1 |
A |
G |
14: 54,520,022 (GRCm39) |
F110S |
possibly damaging |
Het |
P3r3urf |
T |
C |
4: 116,030,812 (GRCm39) |
I72T |
probably damaging |
Het |
Pcdha7 |
G |
T |
18: 37,108,136 (GRCm39) |
C387F |
probably damaging |
Het |
Pcdhb3 |
G |
T |
18: 37,434,700 (GRCm39) |
R222L |
probably benign |
Het |
Phf2 |
A |
G |
13: 48,973,546 (GRCm39) |
M373T |
unknown |
Het |
Plekha7 |
T |
C |
7: 115,739,634 (GRCm39) |
T636A |
probably damaging |
Het |
Rictor |
G |
A |
15: 6,823,487 (GRCm39) |
E1555K |
probably benign |
Het |
Rnf6 |
G |
A |
5: 146,147,959 (GRCm39) |
P353L |
probably benign |
Het |
Sel1l3 |
A |
C |
5: 53,342,150 (GRCm39) |
L357V |
possibly damaging |
Het |
Sh3rf3 |
T |
A |
10: 58,819,975 (GRCm39) |
M262K |
possibly damaging |
Het |
Sorcs3 |
A |
T |
19: 48,776,950 (GRCm39) |
H994L |
probably damaging |
Het |
Thsd7a |
A |
T |
6: 12,503,922 (GRCm39) |
C411S |
probably damaging |
Het |
Ttn |
T |
C |
2: 76,593,682 (GRCm39) |
K20653E |
probably damaging |
Het |
Ttn |
A |
C |
2: 76,708,908 (GRCm39) |
|
probably null |
Het |
Ttn |
A |
G |
2: 76,611,264 (GRCm39) |
W15677R |
probably damaging |
Het |
Ubr2 |
T |
C |
17: 47,267,581 (GRCm39) |
M1049V |
possibly damaging |
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 |
|
R3699:D7Ertd443e
|
UTSW |
7 |
133,950,797 (GRCm39) |
missense |
probably damaging |
1.00 |
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 |
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'- TAGACGAGAAACCGCTGTGG -3'
(R):5'- GCTCCTCATAGAGTATCCCCATG -3'
Sequencing Primer
(F):5'- GGAACCTTTGCCTAGATTGTCC -3'
(R):5'- GACCTGTAAGAGTTCACTACCTG -3'
|
Posted On |
2017-02-10 |