Incidental Mutation 'R4513:Ankrd28'
ID |
334531 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Ankrd28
|
Ensembl Gene |
ENSMUSG00000014496 |
Gene Name |
ankyrin repeat domain 28 |
Synonyms |
E430019N21Rik |
MMRRC Submission |
041759-MU
|
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.284)
|
Stock # |
R4513 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
14 |
Chromosomal Location |
31420725-31552608 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 31465242 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Threonine
at position 312
(S312T)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000153992
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000014640]
[ENSMUST00000227089]
[ENSMUST00000227863]
[ENSMUST00000227878]
[ENSMUST00000228037]
|
AlphaFold |
Q505D1 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000014640
AA Change: S282T
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000014640 Gene: ENSMUSG00000014496 AA Change: S282T
Domain | Start | End | E-Value | Type |
ANK
|
7 |
36 |
5.69e2 |
SMART |
ANK
|
40 |
69 |
2.45e-4 |
SMART |
ANK
|
73 |
102 |
1.59e-3 |
SMART |
ANK
|
106 |
135 |
1.09e-1 |
SMART |
ANK
|
139 |
168 |
1.58e-7 |
SMART |
ANK
|
172 |
201 |
4.97e-5 |
SMART |
ANK
|
205 |
234 |
1.01e-5 |
SMART |
ANK
|
238 |
267 |
2.74e-7 |
SMART |
ANK
|
271 |
301 |
4.13e-2 |
SMART |
ANK
|
305 |
334 |
3.8e-1 |
SMART |
ANK
|
338 |
367 |
3.06e-5 |
SMART |
ANK
|
371 |
400 |
1.44e-1 |
SMART |
ANK
|
404 |
433 |
6.76e-7 |
SMART |
ANK
|
437 |
466 |
1.73e-4 |
SMART |
ANK
|
470 |
500 |
7.83e-3 |
SMART |
ANK
|
504 |
534 |
2.99e1 |
SMART |
ANK
|
549 |
578 |
1.34e-1 |
SMART |
ANK
|
582 |
611 |
3.76e-5 |
SMART |
ANK
|
616 |
645 |
4.13e-2 |
SMART |
ANK
|
652 |
681 |
1.24e-5 |
SMART |
ANK
|
685 |
714 |
4.5e-3 |
SMART |
ANK
|
718 |
747 |
1.93e-2 |
SMART |
ANK
|
755 |
784 |
2.85e-5 |
SMART |
ANK
|
787 |
818 |
2.15e0 |
SMART |
ANK
|
822 |
851 |
2.16e-5 |
SMART |
ANK
|
855 |
885 |
4.5e-3 |
SMART |
ANK
|
889 |
918 |
6.61e-1 |
SMART |
ANK
|
925 |
954 |
3.85e-2 |
SMART |
low complexity region
|
982 |
995 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000226963
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000227083
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000227089
AA Change: S128T
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000227307
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000227863
AA Change: S312T
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000227878
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000228037
|
Meta Mutation Damage Score |
0.2745 |
Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.6%
- 10x: 96.9%
- 20x: 94.0%
|
Validation Efficiency |
100% (56/56) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 50 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adgre1 |
A |
G |
17: 57,717,947 (GRCm39) |
I320V |
probably benign |
Het |
Akap6 |
T |
C |
12: 52,842,787 (GRCm39) |
V45A |
probably benign |
Het |
Cenpn |
A |
G |
8: 117,660,135 (GRCm39) |
Y68C |
probably damaging |
Het |
Cfap96 |
G |
T |
8: 46,421,175 (GRCm39) |
T116K |
probably damaging |
Het |
Cntn3 |
A |
T |
6: 102,145,943 (GRCm39) |
I966N |
probably benign |
Het |
D630003M21Rik |
T |
C |
2: 158,046,722 (GRCm39) |
T752A |
probably benign |
Het |
Dmxl2 |
A |
C |
9: 54,327,168 (GRCm39) |
S952R |
probably null |
Het |
Dop1a |
G |
A |
9: 86,402,612 (GRCm39) |
E1271K |
probably benign |
Het |
Fgfr3 |
A |
G |
5: 33,880,460 (GRCm39) |
|
probably benign |
Het |
Gm10110 |
A |
G |
14: 90,135,151 (GRCm39) |
|
noncoding transcript |
Het |
Got1l1 |
C |
T |
8: 27,688,513 (GRCm39) |
M279I |
probably benign |
Het |
Guf1 |
T |
C |
5: 69,719,005 (GRCm39) |
V230A |
probably benign |
Het |
Hsd17b14 |
C |
T |
7: 45,212,339 (GRCm39) |
L124F |
probably benign |
Het |
Id3 |
G |
T |
4: 135,871,669 (GRCm39) |
|
probably benign |
Het |
Itga8 |
T |
C |
2: 12,187,547 (GRCm39) |
S711G |
probably benign |
Het |
Lgr4 |
T |
C |
2: 109,842,361 (GRCm39) |
M782T |
possibly damaging |
Het |
Lsm12 |
T |
C |
11: 102,057,909 (GRCm39) |
|
probably null |
Het |
Map1b |
T |
A |
13: 99,580,741 (GRCm39) |
D117V |
probably damaging |
Het |
Map3k11 |
A |
G |
19: 5,752,238 (GRCm39) |
T807A |
probably damaging |
Het |
Mapk14 |
T |
C |
17: 28,943,798 (GRCm39) |
F129S |
probably damaging |
Het |
Mapkbp1 |
T |
A |
2: 119,854,174 (GRCm39) |
I1257N |
possibly damaging |
Het |
Mcm3 |
A |
G |
1: 20,880,456 (GRCm39) |
Y459H |
probably damaging |
Het |
Mkln1 |
T |
C |
6: 31,410,093 (GRCm39) |
|
probably benign |
Het |
Msh5 |
A |
T |
17: 35,249,664 (GRCm39) |
I627N |
possibly damaging |
Het |
Nfkbiz |
T |
C |
16: 55,637,204 (GRCm39) |
H488R |
probably benign |
Het |
Nrg1 |
G |
T |
8: 32,967,105 (GRCm39) |
|
probably benign |
Het |
Or1j19 |
A |
G |
2: 36,676,782 (GRCm39) |
M82V |
probably benign |
Het |
Or51q1 |
T |
C |
7: 103,628,648 (GRCm39) |
V89A |
probably benign |
Het |
Or51t4 |
T |
C |
7: 102,597,945 (GRCm39) |
L81P |
probably damaging |
Het |
Or5b120 |
A |
T |
19: 13,479,986 (GRCm39) |
Y93F |
probably benign |
Het |
Plec |
C |
T |
15: 76,070,418 (GRCm39) |
V931M |
probably damaging |
Het |
Plekhg4 |
T |
A |
8: 106,107,034 (GRCm39) |
C910S |
probably damaging |
Het |
Ppp1r18 |
A |
G |
17: 36,179,196 (GRCm39) |
E357G |
probably damaging |
Het |
Pramel23 |
T |
C |
4: 143,424,718 (GRCm39) |
M242V |
probably benign |
Het |
Rbm11 |
T |
C |
16: 75,393,475 (GRCm39) |
F57S |
probably damaging |
Het |
Sbp |
G |
A |
17: 24,164,286 (GRCm39) |
G183D |
probably benign |
Het |
Skint5 |
A |
G |
4: 113,599,382 (GRCm39) |
V719A |
unknown |
Het |
Slc16a7 |
T |
G |
10: 125,069,308 (GRCm39) |
|
probably null |
Het |
Slc29a1 |
A |
C |
17: 45,899,992 (GRCm39) |
Y232* |
probably null |
Het |
Slc7a8 |
C |
G |
14: 54,973,247 (GRCm39) |
G240A |
possibly damaging |
Het |
Spanxn4 |
A |
T |
12: 62,734,886 (GRCm39) |
|
noncoding transcript |
Het |
Spata31d1d |
T |
C |
13: 59,876,368 (GRCm39) |
Q389R |
probably benign |
Het |
Srgap1 |
A |
G |
10: 121,706,231 (GRCm39) |
|
probably null |
Het |
St6gal2 |
A |
T |
17: 55,790,018 (GRCm39) |
N351Y |
probably benign |
Het |
Tle2 |
A |
G |
10: 81,423,394 (GRCm39) |
D491G |
probably damaging |
Het |
Tmem33 |
T |
C |
5: 67,443,468 (GRCm39) |
V215A |
probably benign |
Het |
Trav6-3 |
A |
G |
14: 53,667,548 (GRCm39) |
T7A |
probably benign |
Het |
Ube2q2 |
C |
A |
9: 55,057,084 (GRCm39) |
P56T |
probably benign |
Het |
Unc79 |
T |
C |
12: 102,988,019 (GRCm39) |
V208A |
probably damaging |
Het |
Xkr7 |
T |
C |
2: 152,896,553 (GRCm39) |
I469T |
probably benign |
Het |
|
Other mutations in Ankrd28 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00769:Ankrd28
|
APN |
14 |
31,465,322 (GRCm39) |
missense |
possibly damaging |
0.94 |
IGL01335:Ankrd28
|
APN |
14 |
31,423,981 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL01564:Ankrd28
|
APN |
14 |
31,477,724 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01624:Ankrd28
|
APN |
14 |
31,432,814 (GRCm39) |
missense |
probably benign |
0.00 |
IGL01987:Ankrd28
|
APN |
14 |
31,500,931 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02100:Ankrd28
|
APN |
14 |
31,449,582 (GRCm39) |
unclassified |
probably benign |
|
IGL02307:Ankrd28
|
APN |
14 |
31,455,665 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02656:Ankrd28
|
APN |
14 |
31,424,197 (GRCm39) |
missense |
possibly damaging |
0.94 |
IGL03069:Ankrd28
|
APN |
14 |
31,477,743 (GRCm39) |
nonsense |
probably null |
|
G1citation:Ankrd28
|
UTSW |
14 |
31,458,797 (GRCm39) |
critical splice acceptor site |
probably null |
|
R0038:Ankrd28
|
UTSW |
14 |
31,429,992 (GRCm39) |
missense |
probably damaging |
0.99 |
R0038:Ankrd28
|
UTSW |
14 |
31,429,992 (GRCm39) |
missense |
probably damaging |
0.99 |
R0124:Ankrd28
|
UTSW |
14 |
31,449,698 (GRCm39) |
missense |
probably damaging |
1.00 |
R0347:Ankrd28
|
UTSW |
14 |
31,423,979 (GRCm39) |
makesense |
probably null |
|
R0452:Ankrd28
|
UTSW |
14 |
31,470,695 (GRCm39) |
missense |
probably damaging |
1.00 |
R0685:Ankrd28
|
UTSW |
14 |
31,465,407 (GRCm39) |
unclassified |
probably benign |
|
R0751:Ankrd28
|
UTSW |
14 |
31,486,225 (GRCm39) |
missense |
probably damaging |
1.00 |
R1349:Ankrd28
|
UTSW |
14 |
31,467,218 (GRCm39) |
missense |
probably benign |
0.05 |
R1372:Ankrd28
|
UTSW |
14 |
31,467,218 (GRCm39) |
missense |
probably benign |
0.05 |
R1695:Ankrd28
|
UTSW |
14 |
31,429,201 (GRCm39) |
missense |
probably damaging |
1.00 |
R1888:Ankrd28
|
UTSW |
14 |
31,453,982 (GRCm39) |
splice site |
probably benign |
|
R1938:Ankrd28
|
UTSW |
14 |
31,427,233 (GRCm39) |
missense |
possibly damaging |
0.74 |
R2001:Ankrd28
|
UTSW |
14 |
31,467,293 (GRCm39) |
missense |
possibly damaging |
0.94 |
R2162:Ankrd28
|
UTSW |
14 |
31,430,719 (GRCm39) |
missense |
probably damaging |
1.00 |
R2352:Ankrd28
|
UTSW |
14 |
31,432,904 (GRCm39) |
missense |
probably benign |
0.05 |
R2357:Ankrd28
|
UTSW |
14 |
31,486,251 (GRCm39) |
nonsense |
probably null |
|
R3545:Ankrd28
|
UTSW |
14 |
31,437,217 (GRCm39) |
missense |
probably benign |
0.13 |
R3548:Ankrd28
|
UTSW |
14 |
31,437,217 (GRCm39) |
missense |
probably benign |
0.13 |
R3710:Ankrd28
|
UTSW |
14 |
31,470,808 (GRCm39) |
splice site |
probably benign |
|
R4282:Ankrd28
|
UTSW |
14 |
31,467,182 (GRCm39) |
missense |
possibly damaging |
0.74 |
R4501:Ankrd28
|
UTSW |
14 |
31,428,753 (GRCm39) |
missense |
probably damaging |
0.97 |
R4658:Ankrd28
|
UTSW |
14 |
31,432,825 (GRCm39) |
missense |
probably damaging |
1.00 |
R4731:Ankrd28
|
UTSW |
14 |
31,477,698 (GRCm39) |
missense |
probably benign |
0.43 |
R4732:Ankrd28
|
UTSW |
14 |
31,477,698 (GRCm39) |
missense |
probably benign |
0.43 |
R4733:Ankrd28
|
UTSW |
14 |
31,477,698 (GRCm39) |
missense |
probably benign |
0.43 |
R4776:Ankrd28
|
UTSW |
14 |
31,454,011 (GRCm39) |
missense |
probably damaging |
1.00 |
R4801:Ankrd28
|
UTSW |
14 |
31,458,787 (GRCm39) |
missense |
probably damaging |
1.00 |
R4802:Ankrd28
|
UTSW |
14 |
31,458,787 (GRCm39) |
missense |
probably damaging |
1.00 |
R5279:Ankrd28
|
UTSW |
14 |
31,456,963 (GRCm39) |
missense |
probably damaging |
0.99 |
R5633:Ankrd28
|
UTSW |
14 |
31,457,022 (GRCm39) |
missense |
probably damaging |
1.00 |
R5809:Ankrd28
|
UTSW |
14 |
31,465,311 (GRCm39) |
missense |
probably benign |
0.19 |
R5959:Ankrd28
|
UTSW |
14 |
31,451,879 (GRCm39) |
missense |
probably benign |
0.16 |
R6228:Ankrd28
|
UTSW |
14 |
31,429,177 (GRCm39) |
missense |
probably damaging |
1.00 |
R6358:Ankrd28
|
UTSW |
14 |
31,432,821 (GRCm39) |
missense |
probably damaging |
1.00 |
R6533:Ankrd28
|
UTSW |
14 |
31,454,041 (GRCm39) |
missense |
possibly damaging |
0.49 |
R6598:Ankrd28
|
UTSW |
14 |
31,430,896 (GRCm39) |
missense |
probably damaging |
1.00 |
R6822:Ankrd28
|
UTSW |
14 |
31,458,797 (GRCm39) |
critical splice acceptor site |
probably null |
|
R7352:Ankrd28
|
UTSW |
14 |
31,429,998 (GRCm39) |
missense |
probably damaging |
1.00 |
R7396:Ankrd28
|
UTSW |
14 |
31,424,159 (GRCm39) |
missense |
probably benign |
0.00 |
R7462:Ankrd28
|
UTSW |
14 |
31,500,886 (GRCm39) |
missense |
probably benign |
0.40 |
R7517:Ankrd28
|
UTSW |
14 |
31,437,331 (GRCm39) |
missense |
possibly damaging |
0.65 |
R7629:Ankrd28
|
UTSW |
14 |
31,437,221 (GRCm39) |
missense |
probably benign |
0.00 |
R7783:Ankrd28
|
UTSW |
14 |
31,428,770 (GRCm39) |
missense |
probably damaging |
0.99 |
R7981:Ankrd28
|
UTSW |
14 |
31,424,114 (GRCm39) |
missense |
probably benign |
0.08 |
R8401:Ankrd28
|
UTSW |
14 |
31,467,251 (GRCm39) |
missense |
probably damaging |
1.00 |
R8483:Ankrd28
|
UTSW |
14 |
31,457,048 (GRCm39) |
splice site |
probably null |
|
R8752:Ankrd28
|
UTSW |
14 |
31,477,699 (GRCm39) |
start gained |
probably benign |
|
R8946:Ankrd28
|
UTSW |
14 |
31,430,083 (GRCm39) |
missense |
probably damaging |
1.00 |
R8963:Ankrd28
|
UTSW |
14 |
31,477,698 (GRCm39) |
missense |
probably benign |
0.06 |
R9064:Ankrd28
|
UTSW |
14 |
31,454,005 (GRCm39) |
missense |
probably damaging |
1.00 |
R9181:Ankrd28
|
UTSW |
14 |
31,470,627 (GRCm39) |
missense |
probably damaging |
1.00 |
R9231:Ankrd28
|
UTSW |
14 |
31,429,234 (GRCm39) |
missense |
possibly damaging |
0.91 |
RF010:Ankrd28
|
UTSW |
14 |
31,500,943 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Predicted Primers |
PCR Primer
(F):5'- CCATGTTCATAAGTTTACTAGTGGATC -3'
(R):5'- ACATTCTCTAAGTGTATGTAGCCC -3'
Sequencing Primer
(F):5'- CTAGTGGATCCTTTATAATTCTGG -3'
(R):5'- TGTAGCCCATATAAAACTAAGTTGC -3'
|
Posted On |
2015-08-18 |