Incidental Mutation 'R3693:Ankrd29'
ID |
268879 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Ankrd29
|
Ensembl Gene |
ENSMUSG00000057766 |
Gene Name |
ankyrin repeat domain 29 |
Synonyms |
G630054C21Rik |
MMRRC Submission |
040688-MU
|
Accession Numbers |
|
Essential gene? |
Possibly essential
(E-score: 0.714)
|
Stock # |
R3693 (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: 98.5%
- 10x: 97.2%
- 20x: 94.9%
|
Validation Efficiency |
97% (37/38) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 36 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
2010106E10Rik |
A |
T |
X: 111,466,012 (GRCm39) |
L187F |
probably damaging |
Het |
Cabp2 |
A |
G |
19: 4,133,593 (GRCm39) |
T12A |
probably benign |
Het |
Ccdc158 |
T |
C |
5: 92,757,904 (GRCm39) |
E1056G |
probably damaging |
Het |
Cdhr2 |
A |
G |
13: 54,874,229 (GRCm39) |
Y767C |
probably damaging |
Het |
Ces2e |
A |
G |
8: 105,655,443 (GRCm39) |
D122G |
probably damaging |
Het |
Cherp |
TTGCTGCTGCTGCTGCTGCTG |
TTGCTGCTGCTGCTGCTG |
8: 73,221,755 (GRCm39) |
|
probably benign |
Het |
Chsy3 |
A |
T |
18: 59,309,080 (GRCm39) |
Q111L |
possibly damaging |
Het |
Crygs |
C |
T |
16: 22,624,301 (GRCm39) |
G102D |
possibly damaging |
Het |
Cyp11b2 |
C |
T |
15: 74,727,857 (GRCm39) |
R75Q |
probably benign |
Het |
Dnaja2 |
T |
C |
8: 86,273,249 (GRCm39) |
K223E |
probably damaging |
Het |
Dtx3 |
T |
C |
10: 127,027,293 (GRCm39) |
I294V |
probably benign |
Het |
Eps15l1 |
A |
G |
8: 73,152,904 (GRCm39) |
|
probably benign |
Het |
Exd2 |
A |
G |
12: 80,527,467 (GRCm39) |
Y220C |
probably damaging |
Het |
Eya1 |
A |
G |
1: 14,299,725 (GRCm39) |
Y343H |
probably damaging |
Het |
Hif3a |
T |
C |
7: 16,774,999 (GRCm39) |
E533G |
probably damaging |
Het |
Kalrn |
T |
A |
16: 34,177,685 (GRCm39) |
Y178F |
probably damaging |
Het |
Mageb4 |
G |
T |
X: 85,296,000 (GRCm39) |
R10S |
probably damaging |
Het |
Muc6 |
A |
G |
7: 141,234,946 (GRCm39) |
|
probably benign |
Het |
Myh11 |
C |
A |
16: 14,035,813 (GRCm39) |
E1038D |
probably benign |
Het |
Nfxl1 |
T |
C |
5: 72,697,954 (GRCm39) |
Y297C |
probably damaging |
Het |
Nop14 |
T |
C |
5: 34,811,782 (GRCm39) |
K202E |
probably damaging |
Het |
Or5b112 |
T |
C |
19: 13,319,893 (GRCm39) |
I257T |
possibly damaging |
Het |
Osbpl8 |
T |
A |
10: 111,105,297 (GRCm39) |
S251T |
probably benign |
Het |
Pcdha1 |
A |
T |
18: 37,065,361 (GRCm39) |
K675I |
possibly damaging |
Het |
Pigw |
A |
G |
11: 84,769,209 (GRCm39) |
I40T |
probably benign |
Het |
Pip5k1a |
A |
T |
3: 94,985,498 (GRCm39) |
|
probably benign |
Het |
Ptprh |
G |
T |
7: 4,557,234 (GRCm39) |
Q687K |
probably damaging |
Het |
Rbm4 |
A |
G |
19: 4,837,411 (GRCm39) |
Y358H |
probably damaging |
Het |
Rft1 |
T |
A |
14: 30,412,408 (GRCm39) |
C490S |
probably damaging |
Het |
Rims2 |
A |
T |
15: 39,341,971 (GRCm39) |
T887S |
probably benign |
Het |
Ripk2 |
A |
T |
4: 16,127,695 (GRCm39) |
L349Q |
probably benign |
Het |
Strn |
T |
C |
17: 78,964,421 (GRCm39) |
N515D |
probably damaging |
Het |
Stxbp5l |
A |
T |
16: 37,061,708 (GRCm39) |
Y367* |
probably null |
Het |
Tas2r143 |
G |
A |
6: 42,377,910 (GRCm39) |
V247I |
probably benign |
Het |
Togaram1 |
A |
T |
12: 65,030,283 (GRCm39) |
Y1029F |
probably benign |
Het |
Ugt1a6b |
A |
G |
1: 88,035,516 (GRCm39) |
T285A |
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 |
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 |
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'- TTATAGGGCAGTGTGAGAAGCC -3'
(R):5'- AACAGCGGGTACTACTTCTCATTAG -3'
Sequencing Primer
(F):5'- CCACAGGGCAGACATTCTTTC -3'
(R):5'- TAAGTCCAGTGGAGGCTT -3'
|
Posted On |
2015-02-19 |