Incidental Mutation 'BB016:Ankrd50'
| ID |
642883 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ankrd50
|
| Ensembl Gene |
ENSMUSG00000044864 |
| Gene Name |
ankyrin repeat domain 50 |
| Synonyms |
E430012K20Rik |
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.646)
|
| Stock # |
BB016
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
3 |
| Chromosomal Location |
38503408-38538993 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 38511258 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Isoleucine
at position 370
(F370I)
|
| 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: F370I
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000122842
Gene: ENSMUSG00000044864
AA Change: F370I
| 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: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.0%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 55 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2410137M14Rik |
T |
A |
17: 37,289,412 (GRCm39) |
I105F |
possibly damaging |
Het |
| Adprhl1 |
C |
T |
8: 13,298,682 (GRCm39) |
V83I |
probably damaging |
Het |
| Adra1d |
G |
T |
2: 131,403,600 (GRCm39) |
C163* |
probably null |
Het |
| Ak9 |
A |
G |
10: 41,259,944 (GRCm39) |
D874G |
|
Het |
| Akap8 |
A |
T |
17: 32,528,419 (GRCm39) |
S498T |
probably damaging |
Het |
| Alyref2 |
C |
G |
1: 171,331,407 (GRCm39) |
F61L |
probably benign |
Het |
| Ank1 |
A |
T |
8: 23,606,123 (GRCm39) |
I1172F |
probably damaging |
Het |
| Apip |
A |
C |
2: 102,913,366 (GRCm39) |
T41P |
probably benign |
Het |
| Atg4d |
G |
A |
9: 21,178,260 (GRCm39) |
R126Q |
probably null |
Het |
| Ccdc86 |
A |
G |
19: 10,926,183 (GRCm39) |
S139P |
unknown |
Het |
| Ceacam16 |
A |
G |
7: 19,587,556 (GRCm39) |
L404P |
probably damaging |
Het |
| Dennd3 |
G |
T |
15: 73,436,423 (GRCm39) |
V1010L |
probably damaging |
Het |
| Disp1 |
A |
G |
1: 182,917,103 (GRCm39) |
S108P |
probably benign |
Het |
| Ecpas |
A |
G |
4: 58,869,554 (GRCm39) |
C238R |
probably damaging |
Het |
| Ephb2 |
A |
G |
4: 136,388,195 (GRCm39) |
V635A |
probably damaging |
Het |
| G530012D18Rik |
C |
G |
1: 85,504,935 (GRCm39) |
D113E |
unknown |
Het |
| Gars1 |
A |
G |
6: 55,040,102 (GRCm39) |
H343R |
probably damaging |
Het |
| Gli2 |
A |
T |
1: 118,769,772 (GRCm39) |
N593K |
possibly damaging |
Het |
| Il18rap |
T |
A |
1: 40,570,740 (GRCm39) |
N227K |
probably damaging |
Het |
| Il4ra |
T |
C |
7: 125,174,348 (GRCm39) |
S297P |
probably benign |
Het |
| Itprid1 |
G |
A |
6: 55,874,946 (GRCm39) |
V299M |
probably damaging |
Het |
| Jak1 |
A |
T |
4: 101,011,842 (GRCm39) |
F1087I |
probably damaging |
Het |
| Klf16 |
A |
G |
10: 80,412,698 (GRCm39) |
S113P |
probably benign |
Het |
| Klhl30 |
A |
T |
1: 91,283,238 (GRCm39) |
E280V |
possibly damaging |
Het |
| Kti12 |
A |
C |
4: 108,705,443 (GRCm39) |
E119A |
probably benign |
Het |
| Kti12 |
G |
T |
4: 108,705,444 (GRCm39) |
E119D |
probably benign |
Het |
| Lama4 |
A |
G |
10: 38,954,843 (GRCm39) |
H1132R |
probably damaging |
Het |
| Lmtk3 |
A |
G |
7: 45,444,572 (GRCm39) |
D1085G |
unknown |
Het |
| Lrrc9 |
C |
A |
12: 72,533,071 (GRCm39) |
T980K |
possibly damaging |
Het |
| Nceh1 |
A |
G |
3: 27,333,396 (GRCm39) |
D164G |
probably benign |
Het |
| Nlrp2 |
A |
G |
7: 5,330,498 (GRCm39) |
S633P |
probably damaging |
Het |
| Nxn |
A |
G |
11: 76,164,863 (GRCm39) |
V216A |
possibly damaging |
Het |
| Odf4 |
A |
T |
11: 68,813,759 (GRCm39) |
V143D |
possibly damaging |
Het |
| Or4d6 |
G |
A |
19: 12,086,118 (GRCm39) |
T38I |
unknown |
Het |
| Pex12 |
A |
G |
11: 83,188,809 (GRCm39) |
I62T |
probably damaging |
Het |
| Plekhg1 |
G |
A |
10: 3,869,170 (GRCm39) |
D237N |
probably damaging |
Het |
| Rxrb |
T |
A |
17: 34,255,645 (GRCm39) |
D377E |
probably benign |
Het |
| Ryr2 |
T |
A |
13: 11,609,680 (GRCm39) |
D4382V |
probably damaging |
Het |
| Ryr2 |
T |
A |
13: 11,705,181 (GRCm39) |
K2862* |
probably null |
Het |
| Ryr3 |
A |
G |
2: 112,664,533 (GRCm39) |
L1606P |
probably benign |
Het |
| Samd3 |
A |
G |
10: 26,127,813 (GRCm39) |
K270R |
probably damaging |
Het |
| Slc2a5 |
C |
A |
4: 150,223,942 (GRCm39) |
F211L |
probably benign |
Het |
| Spata31 |
T |
A |
13: 65,069,532 (GRCm39) |
V560D |
probably benign |
Het |
| Tbk1 |
A |
G |
10: 121,393,138 (GRCm39) |
C471R |
probably benign |
Het |
| Tbx20 |
A |
T |
9: 24,637,059 (GRCm39) |
S343T |
possibly damaging |
Het |
| Tesk2 |
A |
G |
4: 116,659,452 (GRCm39) |
E304G |
probably benign |
Het |
| Tle1 |
A |
G |
4: 72,118,239 (GRCm39) |
F2L |
possibly damaging |
Het |
| Tle4 |
G |
T |
19: 14,495,244 (GRCm39) |
P162T |
probably benign |
Het |
| Ttn |
G |
A |
2: 76,673,816 (GRCm39) |
P11172S |
unknown |
Het |
| Tulp1 |
T |
C |
17: 28,572,746 (GRCm39) |
N470S |
possibly damaging |
Het |
| Unc13b |
A |
G |
4: 43,174,399 (GRCm39) |
I1742M |
unknown |
Het |
| Vmn2r107 |
T |
G |
17: 20,565,706 (GRCm39) |
I7S |
probably null |
Het |
| Vmn2r91 |
T |
G |
17: 18,327,906 (GRCm39) |
I500R |
probably damaging |
Het |
| Xpnpep3 |
A |
G |
15: 81,311,626 (GRCm39) |
I111V |
probably damaging |
Het |
| Zp3r |
T |
A |
1: 130,519,217 (GRCm39) |
E308V |
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 |
|
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 |
|
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'- TCATCCACAGAGCCAGTTCG -3'
(R):5'- TTGTCCGAAAACAGTTTGCC -3'
Sequencing Primer
(F):5'- GCTCCAGCTGCAAGTTTG -3'
(R):5'- AGTTTGCCAAAGTTCAGCCC -3'
|
| Posted On |
2020-08-01 |
Incidental Mutation