Incidental Mutation 'R4130:Ankrd29'
| ID |
368392 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ankrd29
|
| Ensembl Gene |
ENSMUSG00000057766 |
| Gene Name |
ankyrin repeat domain 29 |
| Synonyms |
G630054C21Rik |
| MMRRC Submission |
041636-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.665)
|
| Stock # |
R4130 (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: 99.4%
- 3x: 98.7%
- 10x: 97.2%
- 20x: 95.0%
|
| Validation Efficiency |
100% (29/29) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 25 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700021A07Rik |
T |
C |
10: 21,301,441 (GRCm39) |
|
noncoding transcript |
Het |
| A4gnt |
A |
G |
9: 99,502,671 (GRCm39) |
D277G |
possibly damaging |
Het |
| Adam12 |
C |
T |
7: 133,514,653 (GRCm39) |
V345I |
probably damaging |
Het |
| Arpp21 |
T |
A |
9: 111,984,376 (GRCm39) |
|
probably benign |
Het |
| Bbx |
T |
C |
16: 50,045,221 (GRCm39) |
K447E |
probably damaging |
Het |
| Bcar1 |
A |
G |
8: 112,440,797 (GRCm39) |
L399P |
possibly damaging |
Het |
| Cytl1 |
T |
C |
5: 37,892,985 (GRCm39) |
S32P |
probably damaging |
Het |
| Eif4e1b |
C |
T |
13: 54,935,130 (GRCm39) |
T219M |
probably benign |
Het |
| F10 |
A |
G |
8: 13,105,584 (GRCm39) |
D383G |
possibly damaging |
Het |
| Gm37267 |
T |
G |
1: 180,336,643 (GRCm39) |
|
noncoding transcript |
Het |
| Golga2 |
G |
A |
2: 32,178,178 (GRCm39) |
R29H |
probably benign |
Het |
| Gpd1 |
A |
T |
15: 99,617,158 (GRCm39) |
|
probably null |
Het |
| Lrrk2 |
G |
A |
15: 91,639,997 (GRCm39) |
R1514Q |
probably benign |
Het |
| Map1b |
T |
C |
13: 99,568,188 (GRCm39) |
E1511G |
unknown |
Het |
| Nup35 |
G |
A |
2: 80,486,443 (GRCm39) |
|
probably benign |
Het |
| Or13n4 |
C |
T |
7: 106,422,792 (GRCm39) |
G314S |
probably benign |
Het |
| Pdzd9 |
A |
T |
7: 120,262,092 (GRCm39) |
D123E |
possibly damaging |
Het |
| Pramel29 |
T |
A |
4: 143,935,379 (GRCm39) |
I121F |
probably damaging |
Het |
| Rab3gap2 |
A |
G |
1: 184,936,494 (GRCm39) |
D19G |
possibly damaging |
Het |
| Rnf213 |
T |
C |
11: 119,373,832 (GRCm39) |
S4972P |
probably damaging |
Het |
| Skap1 |
A |
G |
11: 96,416,871 (GRCm39) |
Y52C |
probably damaging |
Het |
| Sphkap |
T |
C |
1: 83,255,619 (GRCm39) |
N710S |
probably damaging |
Het |
| Tedc1 |
T |
A |
12: 113,126,828 (GRCm39) |
D363E |
probably benign |
Het |
| Vmn2r44 |
T |
A |
7: 8,370,918 (GRCm39) |
Q709H |
probably damaging |
Het |
| Wdr5 |
G |
T |
2: 27,410,441 (GRCm39) |
|
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 |
|
R3699: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 |
|
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'- TGTGAGAAGCCCACTGTAAATAAAG -3'
(R):5'- AGAACAGCGGGTACTACTTCTC -3'
Sequencing Primer
(F):5'- CCACAGGGCAGACATTCTTTC -3'
(R):5'- GAACAGCGGGTACTACTTCTCATTAG -3'
|
| Posted On |
2016-02-03 |
Incidental Mutation