Incidental Mutation 'R1083:D7Ertd443e'
ID |
84924 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
D7Ertd443e
|
Ensembl Gene |
ENSMUSG00000030994 |
Gene Name |
DNA segment, Chr 7, ERATO Doi 443, expressed |
Synonyms |
4933400E14Rik |
MMRRC Submission |
039169-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R1083 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
7 |
Chromosomal Location |
133867508-134102889 bp(-) (GRCm39) |
Type of Mutation |
nonsense |
DNA Base Change (assembly) |
G to A
at 133950663 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamine to Stop codon
at position 337
(Q337*)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000134479
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000094002]
[ENSMUST00000172947]
[ENSMUST00000173195]
[ENSMUST00000173754]
[ENSMUST00000174700]
|
AlphaFold |
D2J0Y4 |
Predicted Effect |
probably null
Transcript: ENSMUST00000094002
AA Change: Q290*
|
SMART Domains |
Protein: ENSMUSP00000091539 Gene: ENSMUSG00000030994 AA Change: Q290*
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 null
Transcript: ENSMUST00000172947
AA Change: Q337*
|
SMART Domains |
Protein: ENSMUSP00000134479 Gene: ENSMUSG00000030994 AA Change: Q337*
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 |
0.9643 |
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.1%
- 20x: 94.0%
|
Validation Efficiency |
100% (38/38) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 37 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
A730049H05Rik |
T |
C |
6: 92,805,046 (GRCm39) |
|
probably benign |
Het |
Adamts17 |
G |
A |
7: 66,797,322 (GRCm39) |
C986Y |
probably damaging |
Het |
AI987944 |
A |
G |
7: 41,024,763 (GRCm39) |
V75A |
probably benign |
Het |
Arhgap10 |
T |
C |
8: 78,244,378 (GRCm39) |
Y12C |
probably damaging |
Het |
Atp11b |
G |
A |
3: 35,832,162 (GRCm39) |
|
probably benign |
Het |
Ccer1 |
T |
A |
10: 97,530,520 (GRCm39) |
D394E |
possibly damaging |
Het |
Cdh2 |
T |
C |
18: 16,777,016 (GRCm39) |
N273S |
possibly damaging |
Het |
Cfap65 |
G |
T |
1: 74,957,663 (GRCm39) |
|
probably benign |
Het |
Crybb3 |
A |
T |
5: 113,228,444 (GRCm39) |
|
probably benign |
Het |
Dixdc1 |
C |
T |
9: 50,588,293 (GRCm39) |
|
probably benign |
Het |
Dut |
GCGGC |
GCGGCCGGC |
2: 125,089,748 (GRCm39) |
|
probably null |
Het |
Fbxo2 |
A |
G |
4: 148,250,234 (GRCm39) |
|
probably null |
Het |
Gm5174 |
T |
C |
10: 86,491,972 (GRCm39) |
|
noncoding transcript |
Het |
Gpam |
A |
G |
19: 55,076,643 (GRCm39) |
|
probably benign |
Het |
Il12a |
C |
T |
3: 68,602,666 (GRCm39) |
T112M |
probably damaging |
Het |
Itpr1 |
T |
A |
6: 108,487,657 (GRCm39) |
V2361D |
possibly damaging |
Het |
Jag1 |
G |
A |
2: 136,938,152 (GRCm39) |
L283F |
probably damaging |
Het |
Lamb2 |
A |
C |
9: 108,360,892 (GRCm39) |
D538A |
probably benign |
Het |
Map10 |
T |
A |
8: 126,397,178 (GRCm39) |
C190* |
probably null |
Het |
Pcnx2 |
C |
T |
8: 126,498,843 (GRCm39) |
R1552H |
probably damaging |
Het |
Phf1 |
T |
C |
17: 27,156,244 (GRCm39) |
|
probably benign |
Het |
Pitx2 |
A |
G |
3: 129,012,418 (GRCm39) |
T276A |
probably damaging |
Het |
Pparg |
A |
G |
6: 115,467,107 (GRCm39) |
D490G |
probably damaging |
Het |
Rnf10 |
A |
T |
5: 115,398,163 (GRCm39) |
|
probably benign |
Het |
Sbp |
T |
C |
17: 24,161,704 (GRCm39) |
|
probably benign |
Het |
Setbp1 |
A |
T |
18: 78,900,841 (GRCm39) |
L942H |
probably damaging |
Het |
Sf3b1 |
C |
G |
1: 55,058,554 (GRCm39) |
E12Q |
possibly damaging |
Het |
Sfmbt1 |
A |
T |
14: 30,509,498 (GRCm39) |
N326Y |
possibly damaging |
Het |
Slx4 |
G |
A |
16: 3,808,774 (GRCm39) |
Q389* |
probably null |
Het |
Srrm3 |
T |
A |
5: 135,883,263 (GRCm39) |
V206E |
probably damaging |
Het |
Sspo |
T |
A |
6: 48,447,933 (GRCm39) |
D2270E |
possibly damaging |
Het |
Sulf1 |
AAGGGA |
AAGGGAGGGA |
1: 12,906,388 (GRCm39) |
|
probably null |
Het |
Vmn1r14 |
T |
A |
6: 57,211,184 (GRCm39) |
I210N |
probably damaging |
Het |
Wasf3 |
T |
G |
5: 146,372,182 (GRCm39) |
L13R |
probably damaging |
Het |
Yes1 |
T |
C |
5: 32,809,101 (GRCm39) |
|
probably null |
Het |
Zfp292 |
T |
C |
4: 34,807,569 (GRCm39) |
D1830G |
probably damaging |
Het |
Zfp541 |
A |
G |
7: 15,812,637 (GRCm39) |
N430S |
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 |
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 |
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'- GTAACTCCAGCCGGGAATATGGATG -3'
(R):5'- GGGTCACCCACACGAATGACAATG -3'
Sequencing Primer
(F):5'- CCGGGAATATGGATGGAGAGTTG -3'
(R):5'- GTCTCAGCAGTGTCCCAATG -3'
|
Posted On |
2013-11-18 |