Incidental Mutation 'R8723:Ankrd50'
| ID |
662212 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ankrd50
|
| Ensembl Gene |
ENSMUSG00000044864 |
| Gene Name |
ankyrin repeat domain 50 |
| Synonyms |
E430012K20Rik |
| MMRRC Submission |
068615-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.718)
|
| Stock # |
R8723 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
3 |
| Chromosomal Location |
38503408-38538993 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to C
at 38511453 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Valine
at position 305
(F305V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000122842
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000094300]
[ENSMUST00000120875]
[ENSMUST00000156038]
|
| AlphaFold |
A6H6J9 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000094300
|
| SMART Domains |
Protein: ENSMUSP00000091858
Gene: ENSMUSG00000044864
| Domain | Start | End | E-Value | Type |
|---|
|
ANK
|
18 |
47 |
1.16e-5 |
SMART |
|
ANK
|
51 |
80 |
3.41e-3 |
SMART |
|
ANK
|
84 |
113 |
2.9e-6 |
SMART |
|
ANK
|
117 |
147 |
3.31e-1 |
SMART |
|
low complexity region
|
216 |
243 |
N/A |
INTRINSIC |
|
low complexity region
|
262 |
282 |
N/A |
INTRINSIC |
|
low complexity region
|
301 |
332 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000120875
|
| SMART Domains |
Protein: ENSMUSP00000113349
Gene: ENSMUSG00000044864
| Domain | Start | End | E-Value | Type |
|---|
|
SCOP:d1kaga_
|
72 |
90 |
4e-3 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000156038
AA Change: F305V
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000122842
Gene: ENSMUSG00000044864
AA Change: F305V
| 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 |
0.2039 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.2%
|
| Validation Efficiency |
100% (55/55) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 56 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca12 |
A |
T |
1: 71,360,897 (GRCm39) |
H465Q |
probably benign |
Het |
| Adam29 |
T |
C |
8: 56,324,513 (GRCm39) |
H647R |
probably damaging |
Het |
| Adamtsl4 |
C |
T |
3: 95,584,426 (GRCm39) |
R990Q |
possibly damaging |
Het |
| Adgrg7 |
T |
G |
16: 56,582,282 (GRCm39) |
R285S |
probably benign |
Het |
| Alkbh1 |
A |
G |
12: 87,485,278 (GRCm39) |
V115A |
probably benign |
Het |
| Anpep |
A |
G |
7: 79,488,686 (GRCm39) |
S414P |
probably damaging |
Het |
| Anxa3 |
A |
G |
5: 96,986,206 (GRCm39) |
I282V |
probably benign |
Het |
| Aoah |
T |
G |
13: 21,184,180 (GRCm39) |
Y415D |
possibly damaging |
Het |
| Cacna1b |
A |
G |
2: 24,548,510 (GRCm39) |
V1188A |
probably damaging |
Het |
| Cnot1 |
A |
G |
8: 96,462,907 (GRCm39) |
I1651T |
probably benign |
Het |
| Col6a3 |
C |
G |
1: 90,695,328 (GRCm39) |
|
probably benign |
Het |
| Ctnnd1 |
G |
A |
2: 84,450,384 (GRCm39) |
P279S |
probably benign |
Het |
| Dnah10 |
A |
T |
5: 124,891,685 (GRCm39) |
E3298V |
probably damaging |
Het |
| Ear14 |
C |
T |
14: 51,441,513 (GRCm39) |
T123I |
possibly damaging |
Het |
| Elf3 |
A |
G |
1: 135,185,385 (GRCm39) |
L43P |
possibly damaging |
Het |
| Exoc3l4 |
T |
A |
12: 111,397,092 (GRCm39) |
|
probably benign |
Het |
| Figla |
A |
G |
6: 85,997,724 (GRCm39) |
T151A |
probably benign |
Het |
| Fsd1l |
A |
G |
4: 53,647,001 (GRCm39) |
E56G |
unknown |
Het |
| Gm49359 |
A |
T |
13: 62,602,410 (GRCm39) |
H263Q |
probably damaging |
Het |
| Gprc6a |
A |
T |
10: 51,491,518 (GRCm39) |
C744S |
probably damaging |
Het |
| Grhl1 |
G |
A |
12: 24,662,244 (GRCm39) |
|
probably benign |
Het |
| Gtf2h5 |
C |
CA |
17: 6,134,833 (GRCm39) |
|
probably null |
Het |
| Itih3 |
T |
A |
14: 30,630,761 (GRCm39) |
Q850L |
probably damaging |
Het |
| Kcnq5 |
A |
G |
1: 21,575,591 (GRCm39) |
V285A |
probably damaging |
Het |
| Klc4 |
T |
G |
17: 46,951,626 (GRCm39) |
E165A |
probably benign |
Het |
| Lrp2 |
T |
C |
2: 69,316,648 (GRCm39) |
Y2111C |
probably damaging |
Het |
| Lyst |
A |
G |
13: 13,887,342 (GRCm39) |
E3057G |
possibly damaging |
Het |
| Macf1 |
G |
A |
4: 123,348,910 (GRCm39) |
Q4006* |
probably null |
Het |
| Map4k1 |
G |
A |
7: 28,686,542 (GRCm39) |
D155N |
probably damaging |
Het |
| Ms4a20 |
A |
G |
19: 11,083,055 (GRCm39) |
Y122H |
probably damaging |
Het |
| Myh14 |
A |
G |
7: 44,272,407 (GRCm39) |
F1466S |
probably damaging |
Het |
| Nrip1 |
T |
C |
16: 76,089,553 (GRCm39) |
D668G |
probably damaging |
Het |
| Or5w17 |
T |
C |
2: 87,583,501 (GRCm39) |
T279A |
possibly damaging |
Het |
| Or8k3 |
A |
T |
2: 86,058,786 (GRCm39) |
H176Q |
probably damaging |
Het |
| P2rx1 |
C |
A |
11: 72,899,756 (GRCm39) |
N120K |
probably benign |
Het |
| Pif1 |
T |
A |
9: 65,501,673 (GRCm39) |
M569K |
probably damaging |
Het |
| Prkd2 |
G |
A |
7: 16,591,702 (GRCm39) |
V578I |
possibly damaging |
Het |
| Rhobtb1 |
A |
G |
10: 69,106,101 (GRCm39) |
Y284C |
probably damaging |
Het |
| Rps6kb1 |
T |
C |
11: 86,410,757 (GRCm39) |
T164A |
possibly damaging |
Het |
| Rxfp1 |
T |
C |
3: 79,557,802 (GRCm39) |
T559A |
probably benign |
Het |
| Sag |
G |
A |
1: 87,751,175 (GRCm39) |
|
probably null |
Het |
| Smoc1 |
G |
A |
12: 81,182,586 (GRCm39) |
V138I |
possibly damaging |
Het |
| Spag5 |
T |
A |
11: 78,212,215 (GRCm39) |
I1081N |
probably damaging |
Het |
| Stk25 |
A |
G |
1: 93,553,666 (GRCm39) |
I203T |
probably damaging |
Het |
| Strip2 |
T |
A |
6: 29,941,863 (GRCm39) |
V611E |
probably damaging |
Het |
| Sulf1 |
A |
T |
1: 12,856,911 (GRCm39) |
D54V |
probably damaging |
Het |
| Tacr2 |
A |
G |
10: 62,094,107 (GRCm39) |
D188G |
probably damaging |
Het |
| Tmem237 |
A |
T |
1: 59,145,731 (GRCm39) |
Y358N |
probably damaging |
Het |
| Trim27 |
A |
C |
13: 21,374,807 (GRCm39) |
|
probably benign |
Het |
| Tsen34 |
A |
G |
7: 3,698,149 (GRCm39) |
E139G |
probably benign |
Het |
| Ttc39a |
T |
A |
4: 109,300,700 (GRCm39) |
|
probably benign |
Het |
| Tubgcp3 |
A |
T |
8: 12,671,899 (GRCm39) |
I781N |
probably damaging |
Het |
| Uqcc1 |
C |
T |
2: 155,729,100 (GRCm39) |
W21* |
probably null |
Het |
| Vmn2r117 |
A |
T |
17: 23,696,343 (GRCm39) |
W355R |
probably damaging |
Het |
| Vmn2r89 |
T |
C |
14: 51,693,910 (GRCm39) |
V420A |
probably benign |
Het |
| Zdhhc21 |
A |
T |
4: 82,762,439 (GRCm39) |
I52K |
probably benign |
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 |
|
R0593:Ankrd50
|
UTSW |
3 |
38,537,156 (GRCm39) |
nonsense |
probably null |
|
|
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 |
|
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'- AGCCATCCACCAAGAGCTTG -3'
(R):5'- GATGTTCAGCAGTACATCCTCCAC -3'
Sequencing Primer
(F):5'- GGAGAGGACGTCTAGCTTGC -3'
(R):5'- TCCACCGCCTGGATCAAGAG -3'
|
| Posted On |
2021-03-08 |
Incidental Mutation