Incidental Mutation 'R0593:Ankrd50'
ID |
189194 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Ankrd50
|
Ensembl Gene |
ENSMUSG00000044864 |
Gene Name |
ankyrin repeat domain 50 |
Synonyms |
E430012K20Rik |
MMRRC Submission |
038783-MU
|
Accession Numbers |
|
Essential gene? |
Possibly essential
(E-score: 0.718)
|
Stock # |
R0593 (G1)
|
Quality Score |
49 |
Status
|
Validated
|
Chromosome |
3 |
Chromosomal Location |
38503408-38538993 bp(-) (GRCm39) |
Type of Mutation |
nonsense |
DNA Base Change (assembly) |
C to A
at 38537156 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glycine to Stop codon
at position 29
(G29*)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000122842
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000120875]
[ENSMUST00000156038]
|
AlphaFold |
A6H6J9 |
Predicted Effect |
probably null
Transcript: ENSMUST00000120875
AA Change: G66*
|
SMART Domains |
Protein: ENSMUSP00000113349 Gene: ENSMUSG00000044864 AA Change: G66*
Domain | Start | End | E-Value | Type |
SCOP:d1kaga_
|
72 |
90 |
4e-3 |
SMART |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000127837
|
Predicted Effect |
probably null
Transcript: ENSMUST00000156038
AA Change: G29*
|
SMART Domains |
Protein: ENSMUSP00000122842 Gene: ENSMUSG00000044864 AA Change: G29*
Domain | Start | End | E-Value | Type |
Blast:ANK
|
440 |
472 |
8e-11 |
BLAST |
ANK
|
507 |
536 |
7.95e-4 |
SMART |
ANK
|
540 |
569 |
1.01e-5 |
SMART |
ANK
|
573 |
602 |
6.81e-3 |
SMART |
ANK
|
606 |
635 |
1.7e-3 |
SMART |
ANK
|
639 |
668 |
7.64e-6 |
SMART |
ANK
|
672 |
706 |
4.5e-3 |
SMART |
ANK
|
710 |
739 |
3.33e-6 |
SMART |
ANK
|
743 |
772 |
5.37e-1 |
SMART |
ANK
|
776 |
806 |
1.65e-1 |
SMART |
ANK
|
809 |
838 |
1.2e-3 |
SMART |
ANK
|
842 |
871 |
3.97e-4 |
SMART |
ANK
|
875 |
904 |
3.06e-5 |
SMART |
ANK
|
908 |
937 |
2.88e-1 |
SMART |
ANK
|
941 |
970 |
1.16e-5 |
SMART |
ANK
|
974 |
1003 |
3.41e-3 |
SMART |
ANK
|
1007 |
1036 |
2.9e-6 |
SMART |
ANK
|
1040 |
1070 |
3.31e-1 |
SMART |
low complexity region
|
1139 |
1166 |
N/A |
INTRINSIC |
low complexity region
|
1185 |
1205 |
N/A |
INTRINSIC |
low complexity region
|
1224 |
1255 |
N/A |
INTRINSIC |
|
Meta Mutation Damage Score |
0.9755 |
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 96.9%
- 20x: 93.4%
|
Validation Efficiency |
100% (39/39) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 33 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca8a |
T |
C |
11: 109,958,925 (GRCm39) |
D733G |
probably damaging |
Het |
Acmsd |
T |
C |
1: 127,666,340 (GRCm39) |
|
probably benign |
Het |
Adam34 |
T |
C |
8: 44,104,724 (GRCm39) |
Y307C |
possibly damaging |
Het |
Alox12e |
A |
G |
11: 70,211,723 (GRCm39) |
|
probably benign |
Het |
Arhgap17 |
T |
C |
7: 122,885,966 (GRCm39) |
|
probably benign |
Het |
Asah1 |
A |
G |
8: 41,802,619 (GRCm39) |
M141T |
probably benign |
Het |
Atg2a |
GCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCC |
GCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCC |
19: 6,295,037 (GRCm39) |
|
probably benign |
Het |
Bsn |
A |
T |
9: 107,987,505 (GRCm39) |
I2749N |
unknown |
Het |
Cds2 |
G |
A |
2: 132,139,296 (GRCm39) |
|
probably benign |
Het |
Ckmt2 |
A |
G |
13: 92,001,757 (GRCm39) |
V384A |
probably damaging |
Het |
Clock |
A |
G |
5: 76,413,683 (GRCm39) |
S71P |
probably benign |
Het |
Cops6 |
A |
G |
5: 138,161,842 (GRCm39) |
T96A |
probably benign |
Het |
Csnka2ip |
A |
T |
16: 64,298,975 (GRCm39) |
V19D |
probably damaging |
Het |
Dcaf17 |
T |
A |
2: 70,917,744 (GRCm39) |
|
probably null |
Het |
Dscam |
T |
C |
16: 96,573,608 (GRCm39) |
K785E |
probably benign |
Het |
Eif2d |
T |
A |
1: 131,083,465 (GRCm39) |
|
probably benign |
Het |
Gal3st2b |
T |
C |
1: 93,868,549 (GRCm39) |
V258A |
probably benign |
Het |
Gucy2c |
T |
C |
6: 136,705,333 (GRCm39) |
N534S |
probably damaging |
Het |
Hook1 |
C |
T |
4: 95,887,023 (GRCm39) |
T210I |
possibly damaging |
Het |
Ifi203 |
T |
C |
1: 173,756,215 (GRCm39) |
|
probably benign |
Het |
Irf7 |
T |
C |
7: 140,844,975 (GRCm39) |
|
probably benign |
Het |
Lrp2 |
C |
T |
2: 69,297,350 (GRCm39) |
V3204I |
probably benign |
Het |
Mtx2 |
A |
G |
2: 74,699,780 (GRCm39) |
|
probably benign |
Het |
Nelfcd |
G |
T |
2: 174,265,223 (GRCm39) |
V248L |
probably benign |
Het |
Oosp1 |
T |
C |
19: 11,645,776 (GRCm39) |
S121G |
probably benign |
Het |
Or10am5 |
T |
A |
7: 6,517,808 (GRCm39) |
N207Y |
probably benign |
Het |
Sec16b |
G |
C |
1: 157,359,718 (GRCm39) |
G164R |
probably benign |
Het |
Slc22a14 |
T |
A |
9: 118,998,919 (GRCm39) |
D561V |
probably benign |
Het |
Tet2 |
G |
A |
3: 133,193,870 (GRCm39) |
T188I |
probably benign |
Het |
Tex10 |
C |
T |
4: 48,456,800 (GRCm39) |
R637Q |
probably benign |
Het |
Trp53bp1 |
A |
G |
2: 121,101,009 (GRCm39) |
V63A |
possibly damaging |
Het |
Ube2d2a |
T |
G |
18: 35,903,438 (GRCm39) |
|
probably benign |
Het |
Vmn1r113 |
T |
A |
7: 20,521,388 (GRCm39) |
V60E |
probably damaging |
Het |
|
Other mutations in Ankrd50 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00979:Ankrd50
|
APN |
3 |
38,506,563 (GRCm39) |
utr 3 prime |
probably benign |
|
BB006:Ankrd50
|
UTSW |
3 |
38,511,258 (GRCm39) |
missense |
probably damaging |
1.00 |
BB016:Ankrd50
|
UTSW |
3 |
38,511,258 (GRCm39) |
missense |
probably damaging |
1.00 |
PIT4378001:Ankrd50
|
UTSW |
3 |
38,509,412 (GRCm39) |
missense |
possibly damaging |
0.94 |
PIT4434001:Ankrd50
|
UTSW |
3 |
38,509,412 (GRCm39) |
missense |
possibly damaging |
0.94 |
PIT4651001:Ankrd50
|
UTSW |
3 |
38,509,959 (GRCm39) |
nonsense |
probably null |
|
R0048:Ankrd50
|
UTSW |
3 |
38,537,198 (GRCm39) |
missense |
probably benign |
0.00 |
R0048:Ankrd50
|
UTSW |
3 |
38,537,198 (GRCm39) |
missense |
probably benign |
0.00 |
R0127:Ankrd50
|
UTSW |
3 |
38,510,384 (GRCm39) |
missense |
probably benign |
0.00 |
R0179:Ankrd50
|
UTSW |
3 |
38,509,463 (GRCm39) |
missense |
possibly damaging |
0.61 |
R0417:Ankrd50
|
UTSW |
3 |
38,510,510 (GRCm39) |
missense |
probably damaging |
1.00 |
R1076:Ankrd50
|
UTSW |
3 |
38,509,071 (GRCm39) |
missense |
probably damaging |
0.97 |
R1127:Ankrd50
|
UTSW |
3 |
38,511,336 (GRCm39) |
missense |
probably benign |
0.02 |
R1169:Ankrd50
|
UTSW |
3 |
38,508,401 (GRCm39) |
missense |
probably damaging |
1.00 |
R1212:Ankrd50
|
UTSW |
3 |
38,509,836 (GRCm39) |
missense |
probably damaging |
1.00 |
R1447:Ankrd50
|
UTSW |
3 |
38,509,691 (GRCm39) |
missense |
probably damaging |
1.00 |
R1864:Ankrd50
|
UTSW |
3 |
38,508,610 (GRCm39) |
missense |
probably benign |
0.02 |
R1900:Ankrd50
|
UTSW |
3 |
38,509,536 (GRCm39) |
missense |
probably damaging |
1.00 |
R1907:Ankrd50
|
UTSW |
3 |
38,508,201 (GRCm39) |
missense |
probably damaging |
1.00 |
R1912:Ankrd50
|
UTSW |
3 |
38,510,925 (GRCm39) |
missense |
probably benign |
0.07 |
R2051:Ankrd50
|
UTSW |
3 |
38,508,642 (GRCm39) |
missense |
probably benign |
0.21 |
R2197:Ankrd50
|
UTSW |
3 |
38,509,741 (GRCm39) |
missense |
probably damaging |
1.00 |
R2403:Ankrd50
|
UTSW |
3 |
38,537,234 (GRCm39) |
nonsense |
probably null |
|
R3716:Ankrd50
|
UTSW |
3 |
38,508,299 (GRCm39) |
missense |
probably damaging |
0.99 |
R3944:Ankrd50
|
UTSW |
3 |
38,506,645 (GRCm39) |
missense |
probably benign |
0.03 |
R3948:Ankrd50
|
UTSW |
3 |
38,536,990 (GRCm39) |
missense |
possibly damaging |
0.75 |
R4483:Ankrd50
|
UTSW |
3 |
38,511,680 (GRCm39) |
missense |
probably damaging |
1.00 |
R4577:Ankrd50
|
UTSW |
3 |
38,510,090 (GRCm39) |
missense |
probably damaging |
0.98 |
R4691:Ankrd50
|
UTSW |
3 |
38,537,159 (GRCm39) |
missense |
probably benign |
0.01 |
R4907:Ankrd50
|
UTSW |
3 |
38,510,824 (GRCm39) |
missense |
probably damaging |
0.98 |
R4907:Ankrd50
|
UTSW |
3 |
38,509,122 (GRCm39) |
nonsense |
probably null |
|
R5135:Ankrd50
|
UTSW |
3 |
38,509,952 (GRCm39) |
missense |
probably damaging |
1.00 |
R5356:Ankrd50
|
UTSW |
3 |
38,510,334 (GRCm39) |
missense |
probably damaging |
0.99 |
R5368:Ankrd50
|
UTSW |
3 |
38,509,199 (GRCm39) |
missense |
probably damaging |
1.00 |
R5534:Ankrd50
|
UTSW |
3 |
38,510,231 (GRCm39) |
missense |
probably damaging |
0.99 |
R6103:Ankrd50
|
UTSW |
3 |
38,508,578 (GRCm39) |
missense |
probably damaging |
0.99 |
R6169:Ankrd50
|
UTSW |
3 |
38,509,988 (GRCm39) |
missense |
probably damaging |
1.00 |
R6653:Ankrd50
|
UTSW |
3 |
38,511,510 (GRCm39) |
missense |
probably damaging |
1.00 |
R7317:Ankrd50
|
UTSW |
3 |
38,537,332 (GRCm39) |
missense |
possibly damaging |
0.90 |
R7469:Ankrd50
|
UTSW |
3 |
38,508,342 (GRCm39) |
missense |
probably damaging |
0.99 |
R7617:Ankrd50
|
UTSW |
3 |
38,538,831 (GRCm39) |
unclassified |
probably benign |
|
R7749:Ankrd50
|
UTSW |
3 |
38,536,870 (GRCm39) |
missense |
probably damaging |
1.00 |
R7929:Ankrd50
|
UTSW |
3 |
38,511,258 (GRCm39) |
missense |
probably damaging |
1.00 |
R8723:Ankrd50
|
UTSW |
3 |
38,511,453 (GRCm39) |
missense |
probably damaging |
1.00 |
R9046:Ankrd50
|
UTSW |
3 |
38,506,642 (GRCm39) |
missense |
probably benign |
0.03 |
R9164:Ankrd50
|
UTSW |
3 |
38,511,204 (GRCm39) |
missense |
probably damaging |
1.00 |
R9356:Ankrd50
|
UTSW |
3 |
38,510,236 (GRCm39) |
missense |
probably damaging |
1.00 |
R9359:Ankrd50
|
UTSW |
3 |
38,537,172 (GRCm39) |
missense |
probably damaging |
0.97 |
R9654:Ankrd50
|
UTSW |
3 |
38,511,018 (GRCm39) |
missense |
probably benign |
|
R9674:Ankrd50
|
UTSW |
3 |
38,506,574 (GRCm39) |
missense |
unknown |
|
Z1088:Ankrd50
|
UTSW |
3 |
38,511,314 (GRCm39) |
missense |
probably damaging |
0.96 |
Z1177:Ankrd50
|
UTSW |
3 |
38,509,941 (GRCm39) |
missense |
probably damaging |
0.99 |
|
Predicted Primers |
PCR Primer
(F):5'- TCCAACACACAAAGTGTCTGAGTCC -3'
(R):5'- TTCACGGCAACTGGTCATTCCC -3'
Sequencing Primer
(F):5'- CTGAGTCCTGGGCTTTGC -3'
(R):5'- TGGTAATGTATCCAAATCCTAGCCC -3'
|
Posted On |
2014-05-13 |