Incidental Mutation 'R3699:Ankrd29'
| ID |
269933 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ankrd29
|
| Ensembl Gene |
ENSMUSG00000057766 |
| Gene Name |
ankyrin repeat domain 29 |
| Synonyms |
G630054C21Rik |
| MMRRC Submission |
040692-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.665)
|
| Stock # |
R3699 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
18 |
| Chromosomal Location |
12385419-12438854 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 12387757 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Alanine to Valine
at position 275
(A275V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000114028
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000118525]
[ENSMUST00000122408]
|
| AlphaFold |
D3YVV3 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000118525
AA Change: A275V
PolyPhen 2
Score 0.835 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000114028
Gene: ENSMUSG00000057766
AA Change: A275V
| Domain | Start | End | E-Value | Type |
|---|
|
ANK
|
11 |
41 |
3.04e0 |
SMART |
|
ANK
|
45 |
74 |
9.93e-5 |
SMART |
|
ANK
|
78 |
107 |
1.09e-1 |
SMART |
|
ANK
|
111 |
140 |
1.2e-3 |
SMART |
|
ANK
|
144 |
173 |
3.76e-5 |
SMART |
|
ANK
|
177 |
206 |
1.02e-1 |
SMART |
|
ANK
|
210 |
239 |
1.52e0 |
SMART |
|
ANK
|
242 |
271 |
3.01e-4 |
SMART |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000122408
AA Change: A242V
PolyPhen 2
Score 0.785 (Sensitivity: 0.85; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000112888
Gene: ENSMUSG00000057766
AA Change: A242V
| Domain | Start | End | E-Value | Type |
|---|
|
ANK
|
11 |
41 |
3.04e0 |
SMART |
|
ANK
|
45 |
74 |
9.93e-5 |
SMART |
|
ANK
|
78 |
107 |
1.09e-1 |
SMART |
|
ANK
|
111 |
140 |
1.2e-3 |
SMART |
|
ANK
|
144 |
173 |
3.76e-5 |
SMART |
|
ANK
|
177 |
206 |
1.02e-1 |
SMART |
|
ANK
|
210 |
239 |
1.52e0 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000137948
|
| Meta Mutation Damage Score |
0.0721 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 94.8%
|
| Validation Efficiency |
100% (33/33) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 29 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Atp1b2 |
G |
A |
11: 69,496,095 (GRCm39) |
T35I |
probably benign |
Het |
| Baz1a |
A |
G |
12: 54,963,831 (GRCm39) |
V751A |
probably benign |
Het |
| Cdh23 |
C |
A |
10: 60,163,149 (GRCm39) |
|
probably null |
Het |
| Chd2 |
G |
T |
7: 73,118,238 (GRCm39) |
L1127I |
probably benign |
Het |
| D7Ertd443e |
A |
G |
7: 133,950,797 (GRCm39) |
L292P |
probably damaging |
Het |
| Dst |
T |
C |
1: 34,252,155 (GRCm39) |
|
probably benign |
Het |
| Dync2i1 |
C |
T |
12: 116,175,462 (GRCm39) |
W905* |
probably null |
Het |
| Gm8229 |
T |
A |
14: 44,603,984 (GRCm39) |
S58T |
unknown |
Het |
| Gucy2c |
A |
T |
6: 136,747,109 (GRCm39) |
C117S |
probably damaging |
Het |
| Kirrel1 |
C |
T |
3: 86,996,458 (GRCm39) |
M380I |
probably null |
Het |
| Klhl18 |
A |
G |
9: 110,265,134 (GRCm39) |
Y291H |
probably benign |
Het |
| Lamc1 |
G |
T |
1: 153,130,951 (GRCm39) |
S333R |
possibly damaging |
Het |
| Lbr |
T |
C |
1: 181,646,485 (GRCm39) |
Y479C |
probably damaging |
Het |
| Nampt |
T |
C |
12: 32,898,758 (GRCm39) |
|
probably benign |
Het |
| Or10am5 |
A |
G |
7: 6,517,993 (GRCm39) |
M145T |
probably damaging |
Het |
| Pcnx3 |
G |
T |
19: 5,722,493 (GRCm39) |
R1400S |
probably damaging |
Het |
| Pde4b |
C |
T |
4: 102,458,742 (GRCm39) |
A466V |
probably damaging |
Het |
| Piezo1 |
C |
T |
8: 123,221,642 (GRCm39) |
R584H |
probably damaging |
Het |
| Polq |
C |
A |
16: 36,862,518 (GRCm39) |
S338Y |
probably damaging |
Het |
| Pramel26 |
A |
G |
4: 143,536,922 (GRCm39) |
S470P |
probably benign |
Het |
| Rassf8 |
T |
C |
6: 145,765,802 (GRCm39) |
|
probably benign |
Het |
| Rere |
A |
T |
4: 150,561,819 (GRCm39) |
|
probably null |
Het |
| Rps6kb1 |
A |
G |
11: 86,423,620 (GRCm39) |
F120S |
probably damaging |
Het |
| Scarf1 |
G |
T |
11: 75,405,195 (GRCm39) |
C78F |
probably damaging |
Het |
| Tepsin |
C |
T |
11: 119,982,579 (GRCm39) |
C491Y |
possibly damaging |
Het |
| Trpv4 |
A |
G |
5: 114,772,861 (GRCm39) |
S243P |
probably damaging |
Het |
| Whrn |
A |
T |
4: 63,379,649 (GRCm39) |
|
probably benign |
Het |
| Zfp521 |
G |
T |
18: 13,979,330 (GRCm39) |
S361* |
probably null |
Het |
| Zfyve19 |
A |
G |
2: 119,041,720 (GRCm39) |
T96A |
probably benign |
Het |
|
| Other mutations in Ankrd29 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02806:Ankrd29
|
APN |
18 |
12,408,795 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02956:Ankrd29
|
APN |
18 |
12,393,993 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0456:Ankrd29
|
UTSW |
18 |
12,429,036 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2879:Ankrd29
|
UTSW |
18 |
12,387,757 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R3693:Ankrd29
|
UTSW |
18 |
12,387,757 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R3694:Ankrd29
|
UTSW |
18 |
12,387,757 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R3700:Ankrd29
|
UTSW |
18 |
12,387,757 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R4130:Ankrd29
|
UTSW |
18 |
12,387,757 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R4132:Ankrd29
|
UTSW |
18 |
12,387,757 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R4745:Ankrd29
|
UTSW |
18 |
12,387,679 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4989:Ankrd29
|
UTSW |
18 |
12,395,242 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5531:Ankrd29
|
UTSW |
18 |
12,412,835 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5985:Ankrd29
|
UTSW |
18 |
12,412,832 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6187:Ankrd29
|
UTSW |
18 |
12,412,747 (GRCm39) |
nonsense |
probably null |
|
|
R6627:Ankrd29
|
UTSW |
18 |
12,395,221 (GRCm39) |
missense |
probably benign |
0.02 |
|
R6895:Ankrd29
|
UTSW |
18 |
12,394,046 (GRCm39) |
missense |
probably benign |
0.36 |
|
R7671:Ankrd29
|
UTSW |
18 |
12,394,043 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R7918:Ankrd29
|
UTSW |
18 |
12,428,979 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9043:Ankrd29
|
UTSW |
18 |
12,428,970 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9147:Ankrd29
|
UTSW |
18 |
12,408,760 (GRCm39) |
unclassified |
probably benign |
|
|
R9148:Ankrd29
|
UTSW |
18 |
12,408,760 (GRCm39) |
unclassified |
probably benign |
|
|
| Predicted Primers |
PCR Primer
(F):5'- TATAGGGCAGTGTGAGAAGCCC -3'
(R):5'- GAACAGCGGGTACTACTTCTC -3'
Sequencing Primer
(F):5'- CCACAGGGCAGACATTCTTTC -3'
(R):5'- GAACAGCGGGTACTACTTCTCATTAG -3'
|
| Posted On |
2015-03-18 |
Incidental Mutation