Incidental Mutation 'R5123:D7Ertd443e'
ID |
393401 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
D7Ertd443e
|
Ensembl Gene |
ENSMUSG00000030994 |
Gene Name |
DNA segment, Chr 7, ERATO Doi 443, expressed |
Synonyms |
4933400E14Rik |
MMRRC Submission |
042711-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R5123 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
7 |
Chromosomal Location |
133867508-134102889 bp(-) (GRCm39) |
Type of Mutation |
splice site (6 bp from exon) |
DNA Base Change (assembly) |
A to G
at 133951397 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000133963
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000094002]
[ENSMUST00000172947]
[ENSMUST00000173195]
[ENSMUST00000173754]
[ENSMUST00000174700]
|
AlphaFold |
D2J0Y4 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000094002
AA Change: V45A
PolyPhen 2
Score 0.670 (Sensitivity: 0.86; Specificity: 0.91)
|
SMART Domains |
Protein: ENSMUSP00000091539 Gene: ENSMUSG00000030994 AA Change: V45A
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 |
possibly damaging
Transcript: ENSMUST00000172947
AA Change: V92A
PolyPhen 2
Score 0.670 (Sensitivity: 0.86; Specificity: 0.91)
|
SMART Domains |
Protein: ENSMUSP00000134479 Gene: ENSMUSG00000030994 AA Change: V92A
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: V45A
PolyPhen 2
Score 0.904 (Sensitivity: 0.82; Specificity: 0.94)
|
Predicted Effect |
probably null
Transcript: ENSMUST00000173754
|
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 |
|
Meta Mutation Damage Score |
0.4340 |
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 96.6%
- 20x: 93.5%
|
Validation Efficiency |
98% (53/54) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 45 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca3 |
G |
A |
17: 24,603,434 (GRCm39) |
G542D |
possibly damaging |
Het |
Adh6b |
A |
G |
3: 138,063,450 (GRCm39) |
Y343C |
probably damaging |
Het |
Adsl |
T |
A |
15: 80,836,495 (GRCm39) |
|
probably null |
Het |
Apob |
T |
A |
12: 8,057,630 (GRCm39) |
|
probably null |
Het |
Atp6ap1l |
T |
A |
13: 91,047,017 (GRCm39) |
|
probably benign |
Het |
Cacnb3 |
A |
G |
15: 98,537,750 (GRCm39) |
D74G |
probably damaging |
Het |
Cfap251 |
A |
G |
5: 123,411,696 (GRCm39) |
|
probably benign |
Het |
Clca3a2 |
T |
A |
3: 144,512,104 (GRCm39) |
D544V |
probably damaging |
Het |
Col3a1 |
G |
A |
1: 45,372,756 (GRCm39) |
|
probably benign |
Het |
Dscam |
T |
C |
16: 96,573,637 (GRCm39) |
D775G |
probably damaging |
Het |
Eif2b3 |
T |
A |
4: 116,879,408 (GRCm39) |
M16K |
probably damaging |
Het |
Eml5 |
T |
C |
12: 98,840,771 (GRCm39) |
Y281C |
probably damaging |
Het |
Epha2 |
T |
A |
4: 141,036,176 (GRCm39) |
L204Q |
possibly damaging |
Het |
Filip1l |
A |
C |
16: 57,391,025 (GRCm39) |
I538L |
possibly damaging |
Het |
Gcnt2 |
T |
A |
13: 41,071,831 (GRCm39) |
V158D |
probably damaging |
Het |
Gnaq |
A |
G |
19: 16,309,449 (GRCm39) |
N162S |
probably benign |
Het |
Haus5 |
A |
T |
7: 30,353,651 (GRCm39) |
N575K |
probably benign |
Het |
Hjurp |
A |
T |
1: 88,202,772 (GRCm39) |
Y71N |
possibly damaging |
Het |
Igsf5 |
A |
G |
16: 96,174,279 (GRCm39) |
D103G |
probably damaging |
Het |
Myo10 |
A |
G |
15: 25,726,569 (GRCm39) |
D297G |
possibly damaging |
Het |
Net1 |
C |
T |
13: 3,936,623 (GRCm39) |
R314H |
probably damaging |
Het |
Or4b1c |
C |
A |
2: 90,126,512 (GRCm39) |
R231L |
probably benign |
Het |
Or4k51 |
T |
A |
2: 111,584,897 (GRCm39) |
V101D |
probably damaging |
Het |
Pcsk4 |
C |
A |
10: 80,157,979 (GRCm39) |
Q586H |
probably null |
Het |
Pramel11 |
A |
T |
4: 143,623,706 (GRCm39) |
M156K |
probably benign |
Het |
Prss1 |
A |
G |
6: 41,440,131 (GRCm39) |
D156G |
possibly damaging |
Het |
Rnf133 |
A |
T |
6: 23,649,259 (GRCm39) |
N266K |
probably damaging |
Het |
Setd2 |
G |
T |
9: 110,446,595 (GRCm39) |
A2482S |
possibly damaging |
Het |
Sgo2a |
A |
T |
1: 58,055,726 (GRCm39) |
S637C |
probably damaging |
Het |
Slc2a5 |
C |
A |
4: 150,224,262 (GRCm39) |
S290* |
probably null |
Het |
Spata6 |
T |
G |
4: 111,625,992 (GRCm39) |
H120Q |
possibly damaging |
Het |
Stk11 |
G |
A |
10: 79,963,775 (GRCm39) |
V194I |
probably damaging |
Het |
Tkt |
T |
C |
14: 30,287,603 (GRCm39) |
V199A |
probably benign |
Het |
Traf3 |
G |
A |
12: 111,209,952 (GRCm39) |
V183M |
possibly damaging |
Het |
Trappc11 |
T |
C |
8: 47,966,437 (GRCm39) |
Y483C |
probably damaging |
Het |
Trappc9 |
T |
C |
15: 72,785,215 (GRCm39) |
|
probably benign |
Het |
Trim59 |
T |
C |
3: 68,945,067 (GRCm39) |
H91R |
probably benign |
Het |
Ttc21a |
A |
G |
9: 119,781,278 (GRCm39) |
S484G |
probably benign |
Het |
Usp13 |
A |
T |
3: 32,969,947 (GRCm39) |
H691L |
probably benign |
Het |
Vmn1r238 |
T |
C |
18: 3,123,243 (GRCm39) |
Y57C |
probably benign |
Het |
Vmn2r111 |
T |
A |
17: 22,790,124 (GRCm39) |
Q294L |
possibly damaging |
Het |
Vmn2r17 |
A |
G |
5: 109,575,774 (GRCm39) |
D215G |
possibly damaging |
Het |
Zfp280b |
A |
G |
10: 75,875,183 (GRCm39) |
D354G |
probably benign |
Het |
Zfp607a |
A |
G |
7: 27,578,523 (GRCm39) |
H531R |
probably damaging |
Het |
Zfp74 |
A |
T |
7: 29,634,158 (GRCm39) |
C517S |
probably 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 |
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'- TGGCTTTGCACTTGGGACAC -3'
(R):5'- TCTATTTTCTAGGAGACACTGGC -3'
Sequencing Primer
(F):5'- GTGGGTCCCTAAAAGTGTCCCATAC -3'
(R):5'- TTTCTAGGAGACACTGGCATCACAG -3'
|
Posted On |
2016-06-15 |