Incidental Mutation 'R4249:Ankrd39'
| ID |
320513 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ankrd39
|
| Ensembl Gene |
ENSMUSG00000079610 |
| Gene Name |
ankyrin repeat domain 39 |
| Synonyms |
9130416N05Rik, C030004B10Rik |
| MMRRC Submission |
041065-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.083)
|
| Stock # |
R4249 (G1)
|
| Quality Score |
207 |
|
Status
|
Not validated
|
| Chromosome |
1 |
| Chromosomal Location |
36577252-36586333 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 36586236 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 11
(S11P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000147091
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000001172]
[ENSMUST00000114991]
[ENSMUST00000191642]
[ENSMUST00000191677]
[ENSMUST00000194894]
[ENSMUST00000207843]
[ENSMUST00000195620]
|
| AlphaFold |
Q9D2X0 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000001172
AA Change: S11P
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000001172
Gene: ENSMUSG00000079610
AA Change: S11P
| Domain | Start | End | E-Value | Type |
|---|
|
ANK
|
30 |
59 |
8.77e2 |
SMART |
|
ANK
|
63 |
92 |
1.08e-5 |
SMART |
|
ANK
|
96 |
127 |
1.27e-2 |
SMART |
|
ANK
|
129 |
158 |
5.62e-4 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000114991
|
| SMART Domains |
Protein: ENSMUSP00000110643
Gene: ENSMUSG00000026121
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
20 |
N/A |
INTRINSIC |
|
Sema
|
53 |
481 |
2.54e-183 |
SMART |
|
PSI
|
499 |
552 |
4.52e-11 |
SMART |
|
IG
|
563 |
647 |
1.77e-4 |
SMART |
|
transmembrane domain
|
665 |
687 |
N/A |
INTRINSIC |
|
low complexity region
|
754 |
774 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000191642
|
| SMART Domains |
Protein: ENSMUSP00000142284
Gene: ENSMUSG00000026121
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
20 |
N/A |
INTRINSIC |
|
Sema
|
53 |
481 |
2.54e-183 |
SMART |
|
PSI
|
499 |
552 |
4.52e-11 |
SMART |
|
IG
|
563 |
647 |
1.77e-4 |
SMART |
|
transmembrane domain
|
665 |
687 |
N/A |
INTRINSIC |
|
low complexity region
|
754 |
774 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000191677
|
| SMART Domains |
Protein: ENSMUSP00000141263
Gene: ENSMUSG00000026121
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
20 |
N/A |
INTRINSIC |
|
Sema
|
53 |
481 |
2.54e-183 |
SMART |
|
PSI
|
499 |
552 |
4.52e-11 |
SMART |
|
IG
|
563 |
647 |
1.77e-4 |
SMART |
|
transmembrane domain
|
665 |
687 |
N/A |
INTRINSIC |
|
low complexity region
|
754 |
774 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000191706
AA Change: S11P
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000191713
AA Change: L22P
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000191785
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000194894
AA Change: S11P
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000141712
Gene: ENSMUSG00000079610
AA Change: S11P
| Domain | Start | End | E-Value | Type |
|---|
|
ANK
|
30 |
59 |
5.6e0 |
SMART |
|
ANK
|
63 |
92 |
7.1e-8 |
SMART |
|
ANK
|
96 |
127 |
8.2e-5 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000192954
AA Change: L22P
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000207843
AA Change: S11P
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000208269
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000208690
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000207922
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000195620
|
| SMART Domains |
Protein: ENSMUSP00000141527
Gene: ENSMUSG00000026121
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
20 |
N/A |
INTRINSIC |
|
Sema
|
53 |
481 |
2.54e-183 |
SMART |
|
PSI
|
499 |
552 |
4.52e-11 |
SMART |
|
IG
|
563 |
647 |
1.77e-4 |
SMART |
|
transmembrane domain
|
665 |
687 |
N/A |
INTRINSIC |
|
low complexity region
|
754 |
774 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 95.8%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 43 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2700062C07Rik |
A |
G |
18: 24,606,013 (GRCm39) |
N36S |
possibly damaging |
Het |
| Aox1 |
A |
G |
1: 58,338,978 (GRCm39) |
S324G |
probably benign |
Het |
| Atl3 |
T |
C |
19: 7,509,703 (GRCm39) |
V477A |
probably benign |
Het |
| Bcar1 |
T |
C |
8: 112,447,525 (GRCm39) |
T151A |
probably benign |
Het |
| Cdc42bpg |
A |
G |
19: 6,365,296 (GRCm39) |
T718A |
possibly damaging |
Het |
| Col9a1 |
C |
T |
1: 24,283,462 (GRCm39) |
R843C |
probably damaging |
Het |
| Dnah12 |
T |
A |
14: 26,430,341 (GRCm39) |
D316E |
possibly damaging |
Het |
| Fat2 |
A |
G |
11: 55,175,127 (GRCm39) |
V1862A |
probably damaging |
Het |
| Fbxw5 |
C |
A |
2: 25,393,472 (GRCm39) |
N233K |
probably damaging |
Het |
| Fcer2a |
A |
G |
8: 3,738,831 (GRCm39) |
F75L |
probably benign |
Het |
| Fhod3 |
A |
G |
18: 25,123,123 (GRCm39) |
K271R |
probably null |
Het |
| Gimd1 |
T |
C |
3: 132,350,169 (GRCm39) |
V144A |
possibly damaging |
Het |
| Glt1d1 |
T |
C |
5: 127,768,176 (GRCm39) |
|
probably null |
Het |
| Hecw2 |
C |
T |
1: 53,871,804 (GRCm39) |
V1381M |
probably damaging |
Het |
| Kansl1l |
C |
T |
1: 66,812,637 (GRCm39) |
D459N |
probably damaging |
Het |
| Lmtk3 |
G |
A |
7: 45,443,486 (GRCm39) |
C723Y |
possibly damaging |
Het |
| Muc4 |
T |
C |
16: 32,576,200 (GRCm39) |
|
probably benign |
Het |
| Myom1 |
T |
A |
17: 71,399,135 (GRCm39) |
V999E |
probably damaging |
Het |
| Nckap5 |
A |
G |
1: 125,955,376 (GRCm39) |
L460P |
probably benign |
Het |
| Or12d17 |
T |
C |
17: 37,777,715 (GRCm39) |
M206T |
probably damaging |
Het |
| Phf13 |
A |
T |
4: 152,076,552 (GRCm39) |
N213K |
probably damaging |
Het |
| Phldb3 |
T |
C |
7: 24,326,745 (GRCm39) |
I591T |
probably damaging |
Het |
| Pik3cb |
T |
C |
9: 98,983,229 (GRCm39) |
|
probably null |
Het |
| Pkd1l1 |
C |
T |
11: 8,815,543 (GRCm39) |
R1456K |
possibly damaging |
Het |
| Plekhh2 |
A |
G |
17: 84,893,765 (GRCm39) |
E860G |
possibly damaging |
Het |
| Resf1 |
T |
A |
6: 149,227,041 (GRCm39) |
M29K |
possibly damaging |
Het |
| Rest |
A |
G |
5: 77,429,959 (GRCm39) |
T793A |
probably benign |
Het |
| Ropn1 |
C |
T |
16: 34,498,826 (GRCm39) |
Q205* |
probably null |
Het |
| Sacs |
A |
C |
14: 61,440,906 (GRCm39) |
K984T |
probably benign |
Het |
| Samd11 |
G |
A |
4: 156,334,943 (GRCm39) |
R102C |
probably damaging |
Het |
| Satl1 |
A |
G |
X: 111,316,033 (GRCm39) |
S141P |
probably benign |
Het |
| Shank1 |
C |
A |
7: 43,969,160 (GRCm39) |
H352N |
unknown |
Het |
| Slc22a27 |
A |
T |
19: 7,903,244 (GRCm39) |
I162K |
possibly damaging |
Het |
| Snx8 |
A |
G |
5: 140,341,800 (GRCm39) |
L121P |
probably damaging |
Het |
| Sumf1 |
A |
C |
6: 108,131,974 (GRCm39) |
V156G |
probably damaging |
Het |
| Tln1 |
A |
T |
4: 43,536,104 (GRCm39) |
V2027E |
probably damaging |
Het |
| Trdn |
A |
G |
10: 33,326,994 (GRCm39) |
I594M |
probably benign |
Het |
| Trim5 |
C |
G |
7: 103,926,022 (GRCm39) |
E180Q |
possibly damaging |
Het |
| Tsen2 |
A |
G |
6: 115,524,785 (GRCm39) |
|
probably benign |
Het |
| Tubb1 |
A |
T |
2: 174,297,526 (GRCm39) |
E45V |
probably null |
Het |
| Vmn2r67 |
T |
A |
7: 84,799,722 (GRCm39) |
|
probably null |
Het |
| Zcchc14 |
CTGATGGTGGTGGTGATGGTGGTGG |
CTGATGGTGGTGG |
8: 122,331,031 (GRCm39) |
|
probably benign |
Het |
| Zfp160 |
T |
A |
17: 21,246,000 (GRCm39) |
F183L |
probably benign |
Het |
|
| Other mutations in Ankrd39 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01522:Ankrd39
|
APN |
1 |
36,581,142 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R1637:Ankrd39
|
UTSW |
1 |
36,578,573 (GRCm39) |
nonsense |
probably null |
|
|
R5548:Ankrd39
|
UTSW |
1 |
36,581,062 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5551:Ankrd39
|
UTSW |
1 |
36,581,062 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5552:Ankrd39
|
UTSW |
1 |
36,581,062 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5553:Ankrd39
|
UTSW |
1 |
36,581,062 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5554:Ankrd39
|
UTSW |
1 |
36,581,062 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5591:Ankrd39
|
UTSW |
1 |
36,581,062 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5594:Ankrd39
|
UTSW |
1 |
36,581,062 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7609:Ankrd39
|
UTSW |
1 |
36,578,546 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7974:Ankrd39
|
UTSW |
1 |
36,585,999 (GRCm39) |
unclassified |
probably benign |
|
|
R8973:Ankrd39
|
UTSW |
1 |
36,578,439 (GRCm39) |
utr 3 prime |
probably benign |
|
|
R9095:Ankrd39
|
UTSW |
1 |
36,586,241 (GRCm39) |
missense |
probably benign |
0.40 |
|
Z1176:Ankrd39
|
UTSW |
1 |
36,581,086 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- GAAGCTCCAAACACGGTTCGAG -3'
(R):5'- GTAGCAAAGCAGCAAGGCTC -3'
Sequencing Primer
(F):5'- AAACACGGTTCGAGGCCTC -3'
(R):5'- GCAGCAAGGCTCAGTCTATC -3'
|
| Posted On |
2015-06-12 |
Incidental Mutation