Incidental Mutation 'PIT4434001:Ankrd50'
ID |
555047 |
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: 0.718)
|
Stock # |
PIT4434001 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
3 |
Chromosomal Location |
38503408-38538993 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 38509412 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamine to Arginine
at position 62
(Q62R)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000091858
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000094300]
[ENSMUST00000120875]
[ENSMUST00000156038]
|
AlphaFold |
A6H6J9 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000094300
AA Change: Q62R
PolyPhen 2
Score 0.942 (Sensitivity: 0.80; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000091858 Gene: ENSMUSG00000044864 AA Change: Q62R
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 |
possibly damaging
Transcript: ENSMUST00000156038
AA Change: Q985R
PolyPhen 2
Score 0.770 (Sensitivity: 0.85; Specificity: 0.92)
|
SMART Domains |
Protein: ENSMUSP00000122842 Gene: ENSMUSG00000044864 AA Change: Q985R
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: 93.3%
- 3x: 90.6%
- 10x: 84.3%
- 20x: 70.6%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 47 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
6030468B19Rik |
T |
A |
11: 117,696,869 (GRCm39) |
D196E |
probably benign |
Het |
Abcb5 |
G |
A |
12: 118,854,422 (GRCm39) |
S831F |
probably damaging |
Het |
Alg2 |
C |
A |
4: 47,474,076 (GRCm39) |
A71S |
probably benign |
Het |
Ano1 |
A |
G |
7: 144,164,632 (GRCm39) |
V664A |
probably benign |
Het |
Bbox1 |
A |
C |
2: 110,105,979 (GRCm39) |
D188E |
probably benign |
Het |
Bmi1 |
C |
T |
2: 18,689,042 (GRCm39) |
T242M |
probably benign |
Het |
C4bp |
A |
G |
1: 130,584,947 (GRCm39) |
F30L |
probably benign |
Het |
Carmil3 |
A |
G |
14: 55,732,145 (GRCm39) |
N214S |
probably null |
Het |
Cep162 |
C |
A |
9: 87,075,701 (GRCm39) |
K1310N |
probably damaging |
Het |
Cfap74 |
G |
A |
4: 155,548,421 (GRCm39) |
V21M |
unknown |
Het |
Copa |
A |
G |
1: 171,933,742 (GRCm39) |
D401G |
probably benign |
Het |
Cyp4f14 |
A |
G |
17: 33,125,104 (GRCm39) |
V439A |
possibly damaging |
Het |
Ddhd1 |
A |
C |
14: 45,848,062 (GRCm39) |
N569K |
possibly damaging |
Het |
Dennd5a |
A |
G |
7: 109,532,831 (GRCm39) |
L313P |
probably damaging |
Het |
Eri2 |
A |
G |
7: 119,385,524 (GRCm39) |
F326L |
probably benign |
Het |
Fam135a |
A |
T |
1: 24,068,276 (GRCm39) |
H864Q |
probably benign |
Het |
Fat3 |
C |
T |
9: 15,907,612 (GRCm39) |
V2797I |
probably benign |
Het |
Fbn2 |
T |
C |
18: 58,229,134 (GRCm39) |
D692G |
probably damaging |
Het |
Fbxw20 |
A |
G |
9: 109,052,500 (GRCm39) |
S278P |
probably damaging |
Het |
Gna12 |
A |
T |
5: 140,746,773 (GRCm39) |
V224E |
probably damaging |
Het |
Grn |
C |
T |
11: 102,326,766 (GRCm39) |
H482Y |
possibly damaging |
Het |
Igkv7-33 |
A |
G |
6: 70,035,797 (GRCm39) |
Y62H |
possibly damaging |
Het |
Kdm4c |
A |
G |
4: 74,189,569 (GRCm39) |
T95A |
probably benign |
Het |
Lrp3 |
T |
C |
7: 34,903,420 (GRCm39) |
T309A |
probably damaging |
Het |
Map3k2 |
C |
A |
18: 32,343,088 (GRCm39) |
D279E |
possibly damaging |
Het |
Map3k5 |
T |
A |
10: 19,902,003 (GRCm39) |
V358E |
probably damaging |
Het |
Mcpt9 |
A |
G |
14: 56,266,686 (GRCm39) |
S14P |
probably benign |
Het |
Or10b1 |
T |
C |
10: 78,355,549 (GRCm39) |
F36L |
possibly damaging |
Het |
Or51a8 |
T |
C |
7: 102,549,837 (GRCm39) |
F88L |
probably benign |
Het |
Or52a33 |
A |
C |
7: 103,289,054 (GRCm39) |
C98G |
probably damaging |
Het |
Otud7b |
G |
A |
3: 96,047,776 (GRCm39) |
R45H |
probably damaging |
Het |
Pcdhb17 |
A |
G |
18: 37,618,704 (GRCm39) |
N165D |
probably damaging |
Het |
Pogz |
A |
G |
3: 94,779,681 (GRCm39) |
T538A |
probably damaging |
Het |
Prlr |
A |
G |
15: 10,328,458 (GRCm39) |
E311G |
probably damaging |
Het |
Ptprs |
T |
C |
17: 56,761,984 (GRCm39) |
I43V |
probably null |
Het |
Raet1d |
A |
T |
10: 22,247,433 (GRCm39) |
K170* |
probably null |
Het |
Rufy2 |
A |
T |
10: 62,826,845 (GRCm39) |
Q128L |
possibly damaging |
Het |
Svopl |
T |
C |
6: 37,991,801 (GRCm39) |
N360D |
possibly damaging |
Het |
Syt4 |
A |
C |
18: 31,573,384 (GRCm39) |
L377W |
probably damaging |
Het |
Taar7a |
A |
G |
10: 23,869,319 (GRCm39) |
F21L |
probably benign |
Het |
Tax1bp3 |
T |
A |
11: 73,071,630 (GRCm39) |
M78K |
probably damaging |
Het |
Top2b |
T |
C |
14: 16,423,780 (GRCm38) |
|
probably null |
Het |
Trim52 |
A |
T |
14: 106,344,732 (GRCm39) |
D130V |
probably benign |
Het |
Ttc1 |
T |
C |
11: 43,635,955 (GRCm39) |
Y96C |
probably damaging |
Het |
Vmn2r49 |
T |
C |
7: 9,710,762 (GRCm39) |
T657A |
probably damaging |
Het |
Vps13d |
A |
T |
4: 144,881,817 (GRCm39) |
F1259I |
|
Het |
Zbtb18 |
A |
T |
1: 177,275,989 (GRCm39) |
T441S |
possibly 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 |
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'- TGGCAGTGCGTCCAAATTGG -3'
(R):5'- CCACGCTTTACATATTGGCC -3'
Sequencing Primer
(F):5'- CGTCCAAATTGGTCGGCATG -3'
(R):5'- TTGGCCTTAGAAAACCAGCTG -3'
|
Posted On |
2019-06-07 |