Incidental Mutation 'R5356:Ankrd50'
| ID |
424085 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ankrd50
|
| Ensembl Gene |
ENSMUSG00000044864 |
| Gene Name |
ankyrin repeat domain 50 |
| Synonyms |
E430012K20Rik |
| MMRRC Submission |
042935-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.646)
|
| Stock # |
R5356 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
3 |
| Chromosomal Location |
38503408-38538993 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to C
at 38510334 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Alanine
at position 678
(S678A)
|
| 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: S678A
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000122842
Gene: ENSMUSG00000044864
AA Change: S678A
| 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 |
|
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.8%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 62 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adad1 |
C |
T |
3: 37,119,405 (GRCm39) |
T162I |
probably damaging |
Het |
| Adam22 |
C |
A |
5: 8,140,182 (GRCm39) |
G202W |
probably damaging |
Het |
| Amn1 |
T |
C |
6: 149,068,392 (GRCm39) |
I205M |
possibly damaging |
Het |
| Atg13 |
G |
A |
2: 91,522,811 (GRCm39) |
R78* |
probably null |
Het |
| Bmper |
T |
G |
9: 23,285,157 (GRCm39) |
F235L |
probably benign |
Het |
| Btn2a2 |
C |
T |
13: 23,667,045 (GRCm39) |
V187I |
probably benign |
Het |
| Cabs1 |
G |
A |
5: 88,127,492 (GRCm39) |
V48I |
probably benign |
Het |
| Cacnb3 |
A |
G |
15: 98,539,498 (GRCm39) |
I212V |
probably damaging |
Het |
| Cdc45 |
C |
T |
16: 18,614,647 (GRCm39) |
R205H |
probably damaging |
Het |
| Cep162 |
T |
C |
9: 87,088,948 (GRCm39) |
E978G |
probably damaging |
Het |
| Cmya5 |
A |
T |
13: 93,199,993 (GRCm39) |
L3445Q |
probably damaging |
Het |
| Cntrl |
T |
A |
2: 35,038,911 (GRCm39) |
L1067* |
probably null |
Het |
| Cyp20a1 |
G |
A |
1: 60,418,546 (GRCm39) |
V329I |
probably benign |
Het |
| Cyp2d11 |
A |
T |
15: 82,274,712 (GRCm39) |
N288K |
probably benign |
Het |
| D430041D05Rik |
T |
G |
2: 104,085,754 (GRCm39) |
T932P |
probably damaging |
Het |
| Dlk1 |
T |
A |
12: 109,421,447 (GRCm39) |
C54S |
probably damaging |
Het |
| Dusp29 |
G |
A |
14: 21,727,091 (GRCm39) |
R186W |
probably benign |
Het |
| Entpd6 |
T |
A |
2: 150,612,303 (GRCm39) |
F416L |
probably damaging |
Het |
| Evx1 |
A |
G |
6: 52,293,602 (GRCm39) |
T257A |
probably benign |
Het |
| Fpr-rs3 |
A |
T |
17: 20,844,596 (GRCm39) |
S182T |
probably damaging |
Het |
| Glra3 |
A |
T |
8: 56,393,936 (GRCm39) |
I16F |
probably benign |
Het |
| Gm11437 |
C |
A |
11: 84,043,513 (GRCm39) |
L259F |
possibly damaging |
Het |
| Gorasp1 |
A |
T |
9: 119,757,024 (GRCm39) |
L386Q |
probably damaging |
Het |
| Gpsm1 |
T |
C |
2: 26,230,574 (GRCm39) |
V508A |
possibly damaging |
Het |
| Gstm1 |
T |
A |
3: 107,920,052 (GRCm39) |
I180F |
probably benign |
Het |
| Hc |
T |
C |
2: 34,885,007 (GRCm39) |
D1400G |
probably benign |
Het |
| Lrp2 |
A |
G |
2: 69,295,052 (GRCm39) |
V3422A |
possibly damaging |
Het |
| Map3k4 |
A |
G |
17: 12,466,195 (GRCm39) |
V1128A |
possibly damaging |
Het |
| Mboat2 |
G |
C |
12: 25,007,572 (GRCm39) |
V363L |
probably benign |
Het |
| Mgat3 |
A |
G |
15: 80,096,655 (GRCm39) |
N494S |
probably damaging |
Het |
| Mgat3 |
A |
G |
15: 80,095,811 (GRCm39) |
I213V |
possibly damaging |
Het |
| Mtf2 |
A |
T |
5: 108,254,476 (GRCm39) |
T426S |
possibly damaging |
Het |
| Muc3a |
T |
C |
5: 137,245,021 (GRCm39) |
I151V |
probably benign |
Het |
| Myh6 |
T |
C |
14: 55,191,219 (GRCm39) |
E874G |
probably damaging |
Het |
| Myo15a |
G |
A |
11: 60,389,192 (GRCm39) |
G2030R |
probably damaging |
Het |
| Ncdn |
T |
C |
4: 126,641,021 (GRCm39) |
Y493C |
probably damaging |
Het |
| Ncoa6 |
A |
G |
2: 155,263,112 (GRCm39) |
F441L |
probably damaging |
Het |
| Ndc80 |
A |
T |
17: 71,828,103 (GRCm39) |
S75T |
possibly damaging |
Het |
| Nf1 |
T |
C |
11: 79,364,282 (GRCm39) |
F1571L |
possibly damaging |
Het |
| Nherf2 |
A |
G |
17: 24,860,945 (GRCm39) |
V88A |
probably damaging |
Het |
| Nme8 |
A |
G |
13: 19,836,469 (GRCm39) |
F236L |
probably damaging |
Het |
| Nsmce4a |
C |
A |
7: 130,138,778 (GRCm39) |
V289L |
probably damaging |
Het |
| Ntrk2 |
A |
T |
13: 59,208,056 (GRCm39) |
D634V |
probably damaging |
Het |
| Pcsk6 |
G |
C |
7: 65,620,340 (GRCm39) |
E479Q |
probably damaging |
Het |
| Pkd1 |
A |
G |
17: 24,812,551 (GRCm39) |
Q3828R |
probably damaging |
Het |
| Ptov1 |
T |
A |
7: 44,514,089 (GRCm39) |
T295S |
probably damaging |
Het |
| Ptprf |
A |
G |
4: 118,083,535 (GRCm39) |
M824T |
probably benign |
Het |
| Rbm6 |
T |
A |
9: 107,729,865 (GRCm39) |
H129L |
probably damaging |
Het |
| Rbm8a2 |
A |
G |
1: 175,806,255 (GRCm39) |
I74T |
possibly damaging |
Het |
| Ret |
A |
G |
6: 118,174,079 (GRCm39) |
S6P |
possibly damaging |
Het |
| Rspo3 |
A |
T |
10: 29,376,064 (GRCm39) |
C70* |
probably null |
Het |
| Sike1 |
C |
A |
3: 102,909,106 (GRCm39) |
A202D |
possibly damaging |
Het |
| Slco4c1 |
G |
T |
1: 96,759,835 (GRCm39) |
P499H |
probably damaging |
Het |
| Smg1 |
A |
G |
7: 117,794,356 (GRCm39) |
|
probably benign |
Het |
| Tmem135 |
A |
G |
7: 88,954,723 (GRCm39) |
V98A |
probably benign |
Het |
| Tor4a |
T |
A |
2: 25,085,918 (GRCm39) |
|
probably null |
Het |
| Txlna |
A |
G |
4: 129,524,166 (GRCm39) |
F397S |
probably damaging |
Het |
| Tyk2 |
A |
G |
9: 21,027,040 (GRCm39) |
I581T |
probably benign |
Het |
| Unc13a |
C |
T |
8: 72,115,158 (GRCm39) |
D164N |
probably benign |
Het |
| Vwa3b |
T |
C |
1: 37,153,664 (GRCm39) |
I502T |
probably damaging |
Het |
| Xrcc6 |
A |
G |
15: 81,913,419 (GRCm39) |
T6A |
probably benign |
Het |
| Zfp524 |
T |
C |
7: 5,021,432 (GRCm39) |
V320A |
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 |
|
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'- GTGATCGACATCTGCTCCTC -3'
(R):5'- AAGGTAGACTGTGCAGATGC -3'
Sequencing Primer
(F):5'- CCTTCTAGCAGCAGGTCCAC -3'
(R):5'- CAGCCGAACTGCTCTGC -3'
|
| Posted On |
2016-08-04 |
Incidental Mutation