Incidental Mutation 'R1076:Ankrd50'
| ID |
85637 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ankrd50
|
| Ensembl Gene |
ENSMUSG00000044864 |
| Gene Name |
ankyrin repeat domain 50 |
| Synonyms |
E430012K20Rik |
| MMRRC Submission |
039162-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.718)
|
| Stock # |
R1076 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
3 |
| Chromosomal Location |
38503408-38538993 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 38509071 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Aspartic acid
at position 176
(N176D)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000091858
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000094300]
[ENSMUST00000120875]
[ENSMUST00000156038]
|
| AlphaFold |
A6H6J9 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000094300
AA Change: N176D
PolyPhen 2
Score 0.966 (Sensitivity: 0.77; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000091858
Gene: ENSMUSG00000044864
AA Change: N176D
| 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 benign
Transcript: ENSMUST00000156038
AA Change: N1099D
PolyPhen 2
Score 0.176 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000122842
Gene: ENSMUSG00000044864
AA Change: N1099D
| 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 |
0.0686 |
| Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.8%
- 10x: 97.4%
- 20x: 95.1%
|
| Validation Efficiency |
100% (39/39) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 35 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ang4 |
T |
C |
14: 52,001,759 (GRCm39) |
K63R |
probably damaging |
Het |
| Apbb1 |
A |
T |
7: 105,223,062 (GRCm39) |
L183Q |
probably benign |
Het |
| Cdh17 |
T |
C |
4: 11,795,581 (GRCm39) |
V387A |
probably benign |
Het |
| Cldn4 |
A |
G |
5: 134,975,191 (GRCm39) |
S137P |
probably damaging |
Het |
| Cnn1 |
A |
T |
9: 22,019,165 (GRCm39) |
Q157L |
probably damaging |
Het |
| Csn1s1 |
A |
T |
5: 87,824,242 (GRCm39) |
|
probably null |
Het |
| Dennd3 |
C |
T |
15: 73,412,582 (GRCm39) |
H415Y |
probably damaging |
Het |
| Dnpep |
A |
G |
1: 75,292,582 (GRCm39) |
|
probably benign |
Het |
| Dram1 |
C |
A |
10: 88,161,246 (GRCm39) |
V208L |
probably damaging |
Het |
| Elovl2 |
A |
G |
13: 41,343,583 (GRCm39) |
V115A |
possibly damaging |
Het |
| Fryl |
C |
T |
5: 73,282,016 (GRCm39) |
|
probably benign |
Het |
| Gsap |
A |
G |
5: 21,492,692 (GRCm39) |
T707A |
possibly damaging |
Het |
| Hsh2d |
G |
A |
8: 72,954,304 (GRCm39) |
D229N |
probably benign |
Het |
| Ktn1 |
T |
A |
14: 47,932,095 (GRCm39) |
M674K |
probably damaging |
Het |
| Larp4 |
A |
G |
15: 99,895,311 (GRCm39) |
T295A |
probably benign |
Het |
| Lrp1 |
T |
C |
10: 127,399,666 (GRCm39) |
|
probably benign |
Het |
| Lypd10 |
A |
G |
7: 24,413,167 (GRCm39) |
K162R |
probably benign |
Het |
| Macf1 |
T |
C |
4: 123,279,391 (GRCm39) |
D3870G |
probably damaging |
Het |
| Mctp2 |
T |
G |
7: 71,835,615 (GRCm39) |
|
probably null |
Het |
| Nbn |
A |
T |
4: 15,970,719 (GRCm39) |
|
probably null |
Het |
| Neb |
A |
G |
2: 52,094,904 (GRCm39) |
Y4883H |
probably damaging |
Het |
| Nsun6 |
A |
T |
2: 15,014,283 (GRCm39) |
C286S |
probably benign |
Het |
| Pabpc4 |
T |
A |
4: 123,186,701 (GRCm39) |
D307E |
possibly damaging |
Het |
| Pik3cg |
G |
A |
12: 32,245,713 (GRCm39) |
|
probably benign |
Het |
| Ptpdc1 |
C |
T |
13: 48,740,286 (GRCm39) |
E382K |
probably damaging |
Het |
| Serpina3k |
A |
G |
12: 104,307,253 (GRCm39) |
T162A |
probably benign |
Het |
| Sis |
T |
C |
3: 72,841,431 (GRCm39) |
T795A |
probably damaging |
Het |
| Skint8 |
T |
A |
4: 111,784,416 (GRCm39) |
V14E |
probably damaging |
Het |
| Slc2a1 |
T |
G |
4: 118,991,645 (GRCm39) |
M351R |
probably damaging |
Het |
| Slc41a3 |
G |
A |
6: 90,621,142 (GRCm39) |
C394Y |
probably benign |
Het |
| Srp54b |
T |
C |
12: 55,302,313 (GRCm39) |
|
probably benign |
Het |
| Ulk2 |
G |
A |
11: 61,710,135 (GRCm39) |
H358Y |
probably damaging |
Het |
| Utp20 |
A |
T |
10: 88,608,405 (GRCm39) |
I1544N |
possibly damaging |
Het |
| Utp20 |
A |
G |
10: 88,608,321 (GRCm39) |
M1572T |
probably benign |
Het |
| Zbtb14 |
C |
A |
17: 69,695,497 (GRCm39) |
F398L |
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 |
|
R0593:Ankrd50
|
UTSW |
3 |
38,537,156 (GRCm39) |
nonsense |
probably null |
|
|
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'- GGCTATGGAAACTGTCAATGGGCAC -3'
(R):5'- ATGCCGACCAATTTGGACGCAC -3'
Sequencing Primer
(F):5'- TCAATGGGCACCGTCTGAG -3'
(R):5'- TTGGACGCACTGCCATGAG -3'
|
| Posted On |
2013-11-18 |
Incidental Mutation