Incidental Mutation 'R6103:Ankrd50'
| ID |
485358 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ankrd50
|
| Ensembl Gene |
ENSMUSG00000044864 |
| Gene Name |
ankyrin repeat domain 50 |
| Synonyms |
E430012K20Rik |
| MMRRC Submission |
044253-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.646)
|
| Stock # |
R6103 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
3 |
| Chromosomal Location |
38503408-38538993 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 38508578 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 340
(E340G)
|
| 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: E340G
PolyPhen 2
Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000091858
Gene: ENSMUSG00000044864
AA Change: E340G
| 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: E1263G
PolyPhen 2
Score 0.944 (Sensitivity: 0.80; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000122842
Gene: ENSMUSG00000044864
AA Change: E1263G
| 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 |
0.2915 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.1%
- 20x: 95.0%
|
| Validation Efficiency |
100% (55/55) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 55 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc8 |
A |
G |
7: 45,768,445 (GRCm39) |
S926P |
possibly damaging |
Het |
| Acacb |
T |
A |
5: 114,383,942 (GRCm39) |
M2157K |
probably damaging |
Het |
| Aco2 |
T |
C |
15: 81,797,452 (GRCm39) |
V636A |
probably benign |
Het |
| Adgrf3 |
T |
C |
5: 30,401,265 (GRCm39) |
Y51C |
probably damaging |
Het |
| Adprhl1 |
T |
C |
8: 13,272,055 (GRCm39) |
T1568A |
possibly damaging |
Het |
| Ank1 |
T |
A |
8: 23,603,999 (GRCm39) |
S937T |
probably damaging |
Het |
| Avpr1b |
C |
T |
1: 131,537,155 (GRCm39) |
P90S |
probably damaging |
Het |
| Cacna2d3 |
T |
C |
14: 29,118,446 (GRCm39) |
H159R |
probably damaging |
Het |
| Carmil3 |
A |
T |
14: 55,742,884 (GRCm39) |
T1185S |
probably benign |
Het |
| Casp2 |
A |
T |
6: 42,256,814 (GRCm39) |
R357S |
probably damaging |
Het |
| Ccdc34 |
A |
G |
2: 109,848,352 (GRCm39) |
D47G |
probably benign |
Het |
| Cd109 |
A |
G |
9: 78,605,596 (GRCm39) |
|
probably null |
Het |
| Cd209d |
T |
C |
8: 3,928,304 (GRCm39) |
Y27C |
probably damaging |
Het |
| Cep350 |
T |
A |
1: 155,800,322 (GRCm39) |
D1176V |
probably benign |
Het |
| Cpd |
A |
T |
11: 76,690,625 (GRCm39) |
S844T |
probably benign |
Het |
| Cyp4x1 |
A |
G |
4: 114,968,864 (GRCm39) |
L380P |
probably damaging |
Het |
| Dscam |
A |
G |
16: 96,626,781 (GRCm39) |
V376A |
probably benign |
Het |
| Enam |
T |
A |
5: 88,650,187 (GRCm39) |
N565K |
probably damaging |
Het |
| Fam110c |
G |
A |
12: 31,124,794 (GRCm39) |
W252* |
probably null |
Het |
| Fbxo6 |
A |
T |
4: 148,233,979 (GRCm39) |
I39N |
probably damaging |
Het |
| Fgb |
T |
C |
3: 82,951,170 (GRCm39) |
D281G |
probably benign |
Het |
| Frem2 |
T |
A |
3: 53,457,209 (GRCm39) |
T2048S |
probably benign |
Het |
| Fut8 |
A |
T |
12: 77,378,721 (GRCm39) |
|
probably benign |
Het |
| Glmp |
T |
C |
3: 88,235,338 (GRCm39) |
S238P |
probably benign |
Het |
| Gm35315 |
T |
A |
5: 110,226,137 (GRCm39) |
Y434F |
probably damaging |
Het |
| Gnpnat1 |
A |
G |
14: 45,620,856 (GRCm39) |
F71S |
probably damaging |
Het |
| Gpnmb |
A |
G |
6: 49,019,820 (GRCm39) |
R64G |
possibly damaging |
Het |
| Grxcr1 |
T |
C |
5: 68,323,547 (GRCm39) |
F275S |
possibly damaging |
Het |
| Ift140 |
T |
A |
17: 25,312,100 (GRCm39) |
C1314S |
probably damaging |
Het |
| Kif9 |
T |
C |
9: 110,318,917 (GRCm39) |
I127T |
possibly damaging |
Het |
| Mmd2 |
A |
G |
5: 142,553,618 (GRCm39) |
|
probably null |
Het |
| Ms4a3 |
A |
T |
19: 11,616,582 (GRCm39) |
V20D |
possibly damaging |
Het |
| Mtres1 |
A |
T |
10: 43,408,916 (GRCm39) |
Y76N |
probably benign |
Het |
| Myh7b |
A |
G |
2: 155,460,663 (GRCm39) |
E272G |
probably damaging |
Het |
| Naaladl1 |
G |
A |
19: 6,158,743 (GRCm39) |
G292S |
probably damaging |
Het |
| Notch2 |
T |
A |
3: 98,043,059 (GRCm39) |
Y1475N |
possibly damaging |
Het |
| Obp2a |
G |
A |
2: 25,590,163 (GRCm39) |
E21K |
probably damaging |
Het |
| Or5ar1 |
A |
G |
2: 85,671,776 (GRCm39) |
Y120H |
probably damaging |
Het |
| Osbpl10 |
T |
A |
9: 114,890,940 (GRCm39) |
Y109* |
probably null |
Het |
| Plcd1 |
A |
T |
9: 118,901,109 (GRCm39) |
W749R |
probably benign |
Het |
| Ptpro |
A |
G |
6: 137,377,704 (GRCm39) |
E718G |
possibly damaging |
Het |
| Rbm4 |
C |
T |
19: 4,837,947 (GRCm39) |
R295H |
probably damaging |
Het |
| Rsrc1 |
C |
T |
3: 66,901,982 (GRCm39) |
P44L |
unknown |
Het |
| Setdb2 |
T |
C |
14: 59,646,981 (GRCm39) |
|
probably null |
Het |
| Slc25a18 |
C |
A |
6: 120,766,399 (GRCm39) |
L131I |
probably damaging |
Het |
| Slc4a10 |
A |
G |
2: 62,064,809 (GRCm39) |
H221R |
probably damaging |
Het |
| Tbc1d32 |
A |
T |
10: 56,026,979 (GRCm39) |
W757R |
probably damaging |
Het |
| Tmem183a |
C |
A |
1: 134,275,884 (GRCm39) |
V331L |
probably benign |
Het |
| Try10 |
C |
A |
6: 41,333,484 (GRCm39) |
H76Q |
probably damaging |
Het |
| Ttn |
T |
A |
2: 76,748,599 (GRCm39) |
H4150L |
probably benign |
Het |
| Vmn2r52 |
G |
A |
7: 9,905,327 (GRCm39) |
P171S |
probably benign |
Het |
| Vmn2r88 |
A |
G |
14: 51,652,826 (GRCm39) |
T450A |
probably benign |
Het |
| Yipf7 |
A |
T |
5: 69,698,405 (GRCm39) |
V34D |
probably benign |
Het |
| Zfp647 |
G |
A |
15: 76,796,285 (GRCm39) |
P125L |
probably damaging |
Het |
| Zg16 |
A |
G |
7: 126,649,748 (GRCm39) |
V71A |
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 |
|
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'- AACACCTGGTTGCTCTGCAG -3'
(R):5'- TCCACAACCCAGTCCTTAGG -3'
Sequencing Primer
(F):5'- AATTGGGGTTCGTCATTATCCC -3'
(R):5'- TCCTTAGGACACAGCCATAATTCTC -3'
|
| Posted On |
2017-08-16 |
Incidental Mutation