Incidental Mutation 'R6627:Ankrd29'
| ID |
524888 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ankrd29
|
| Ensembl Gene |
ENSMUSG00000057766 |
| Gene Name |
ankyrin repeat domain 29 |
| Synonyms |
G630054C21Rik |
| MMRRC Submission |
044749-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.665)
|
| Stock # |
R6627 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
18 |
| Chromosomal Location |
12385419-12438854 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 12395221 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Serine
at position 224
(N224S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000114028
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000118525]
[ENSMUST00000122408]
|
| AlphaFold |
D3YVV3 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000118525
AA Change: N224S
PolyPhen 2
Score 0.020 (Sensitivity: 0.95; Specificity: 0.80)
|
| SMART Domains |
Protein: ENSMUSP00000114028
Gene: ENSMUSG00000057766
AA Change: N224S
| 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 |
probably benign
Transcript: ENSMUST00000122408
AA Change: N224S
PolyPhen 2
Score 0.017 (Sensitivity: 0.95; Specificity: 0.80)
|
| SMART Domains |
Protein: ENSMUSP00000112888
Gene: ENSMUSG00000057766
AA Change: N224S
| 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
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.5%
- 10x: 97.6%
- 20x: 92.1%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 25 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ccdc162 |
A |
G |
10: 41,539,181 (GRCm39) |
S396P |
probably damaging |
Het |
| Cd9 |
A |
G |
6: 125,439,375 (GRCm39) |
L119P |
possibly damaging |
Het |
| Cdk17 |
A |
C |
10: 93,068,274 (GRCm39) |
T311P |
probably damaging |
Het |
| Cep89 |
A |
G |
7: 35,127,172 (GRCm39) |
D511G |
possibly damaging |
Het |
| Coq3 |
T |
C |
4: 21,908,607 (GRCm39) |
V286A |
possibly damaging |
Het |
| Cyp2j13 |
G |
A |
4: 95,947,343 (GRCm39) |
T236I |
probably damaging |
Het |
| Ddx46 |
T |
C |
13: 55,800,748 (GRCm39) |
V301A |
probably benign |
Het |
| Dnah10 |
A |
T |
5: 124,907,097 (GRCm39) |
I4209F |
probably damaging |
Het |
| E2f5 |
G |
A |
3: 14,668,917 (GRCm39) |
E270K |
probably benign |
Het |
| Elp1 |
A |
T |
4: 56,784,647 (GRCm39) |
|
probably null |
Het |
| Esp24 |
C |
T |
17: 39,350,952 (GRCm39) |
Q51* |
probably null |
Het |
| Fam168b |
C |
A |
1: 34,875,822 (GRCm39) |
G21V |
probably damaging |
Het |
| Fasn |
G |
T |
11: 120,709,753 (GRCm39) |
Q435K |
probably benign |
Het |
| Gpr17 |
T |
C |
18: 32,080,949 (GRCm39) |
Y38C |
probably damaging |
Het |
| Lfng |
T |
C |
5: 140,593,523 (GRCm39) |
V118A |
probably damaging |
Het |
| Maco1 |
A |
G |
4: 134,563,654 (GRCm39) |
V110A |
probably damaging |
Het |
| Muc5ac |
T |
C |
7: 141,362,427 (GRCm39) |
|
probably benign |
Het |
| Myh1 |
T |
G |
11: 67,105,835 (GRCm39) |
L1150R |
probably damaging |
Het |
| Plod3 |
T |
G |
5: 137,017,310 (GRCm39) |
I111S |
probably damaging |
Het |
| Sh2d4a |
T |
A |
8: 68,746,970 (GRCm39) |
V66D |
probably damaging |
Het |
| Simc1 |
T |
G |
13: 54,694,887 (GRCm39) |
L323V |
probably damaging |
Het |
| Thnsl2 |
A |
G |
6: 71,111,199 (GRCm39) |
I223T |
possibly damaging |
Het |
| Tmem203 |
T |
C |
2: 25,145,785 (GRCm39) |
|
probably null |
Het |
| Tmppe |
A |
G |
9: 114,234,553 (GRCm39) |
D284G |
probably damaging |
Het |
| Ube2s |
C |
T |
7: 4,813,581 (GRCm39) |
R61H |
possibly damaging |
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 |
|
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 |
|
|
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'- TTAGGAGGCTGTTCTATTTACCACC -3'
(R):5'- TCACGCACTATGGATGGCATC -3'
Sequencing Primer
(F):5'- CTCCCTGCTTCCACCTGGAG -3'
(R):5'- GGATGGCATCCTCACACAG -3'
|
| Posted On |
2018-06-22 |
Incidental Mutation