Incidental Mutation 'R7629:Ankrd28'
ID |
589564 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Ankrd28
|
Ensembl Gene |
ENSMUSG00000014496 |
Gene Name |
ankyrin repeat domain 28 |
Synonyms |
E430019N21Rik |
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.284)
|
Stock # |
R7629 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
14 |
Chromosomal Location |
31420725-31552608 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 31437221 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Isoleucine
at position 615
(V615I)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000014640
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000014640]
[ENSMUST00000227089]
[ENSMUST00000227863]
|
AlphaFold |
Q505D1 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000014640
AA Change: V615I
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
SMART Domains |
Protein: ENSMUSP00000014640 Gene: ENSMUSG00000014496 AA Change: V615I
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 |
probably benign
Transcript: ENSMUST00000227089
AA Change: V461I
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000227863
AA Change: V645I
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.2%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 50 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
2310061N02Rik |
G |
A |
16: 88,504,293 (GRCm39) |
T168I |
probably benign |
Het |
Abtb2 |
T |
A |
2: 103,513,838 (GRCm39) |
|
probably null |
Het |
Ankrd10 |
A |
T |
8: 11,665,769 (GRCm39) |
V277E |
probably benign |
Het |
Aqr |
G |
A |
2: 113,945,074 (GRCm39) |
P1079L |
probably damaging |
Het |
Brox |
G |
A |
1: 183,074,068 (GRCm39) |
A60V |
probably damaging |
Het |
Copg1 |
T |
C |
6: 87,871,151 (GRCm39) |
V289A |
possibly damaging |
Het |
Cplane1 |
C |
T |
15: 8,256,551 (GRCm39) |
Q2004* |
probably null |
Het |
Dido1 |
T |
C |
2: 180,303,266 (GRCm39) |
N1546S |
probably benign |
Het |
Dlg5 |
G |
A |
14: 24,295,280 (GRCm39) |
P80L |
probably damaging |
Het |
Dmxl1 |
T |
A |
18: 49,992,337 (GRCm39) |
I361N |
probably damaging |
Het |
Fan1 |
T |
A |
7: 64,022,234 (GRCm39) |
N340Y |
probably damaging |
Het |
Fhod3 |
T |
A |
18: 24,887,374 (GRCm39) |
D88E |
probably benign |
Het |
Flywch1 |
A |
G |
17: 23,974,744 (GRCm39) |
M632T |
probably benign |
Het |
Henmt1 |
A |
G |
3: 108,865,913 (GRCm39) |
T213A |
probably benign |
Het |
Itga9 |
T |
C |
9: 118,527,514 (GRCm39) |
V555A |
probably benign |
Het |
Katnip |
T |
C |
7: 125,394,422 (GRCm39) |
L192P |
probably damaging |
Het |
Kif13b |
C |
T |
14: 65,016,784 (GRCm39) |
R1317* |
probably null |
Het |
Kndc1 |
A |
T |
7: 139,475,176 (GRCm39) |
E25V |
probably damaging |
Het |
Lingo2 |
T |
A |
4: 35,708,675 (GRCm39) |
D435V |
possibly damaging |
Het |
Lrrc14b |
T |
A |
13: 74,509,283 (GRCm39) |
M375L |
probably benign |
Het |
Lrrtm2 |
T |
C |
18: 35,347,310 (GRCm39) |
|
probably null |
Het |
Mgat4c |
G |
A |
10: 102,224,931 (GRCm39) |
V382I |
probably benign |
Het |
Muc16 |
T |
C |
9: 18,478,081 (GRCm39) |
T7075A |
possibly damaging |
Het |
Myo5b |
T |
A |
18: 74,760,325 (GRCm39) |
|
probably null |
Het |
Neb |
T |
C |
2: 52,163,973 (GRCm39) |
D1995G |
possibly damaging |
Het |
Nudt9 |
T |
C |
5: 104,198,560 (GRCm39) |
V75A |
possibly damaging |
Het |
Or4k35 |
C |
T |
2: 111,100,221 (GRCm39) |
V164I |
probably benign |
Het |
Paf1 |
T |
C |
7: 28,094,493 (GRCm39) |
Y35H |
probably damaging |
Het |
Pals2 |
T |
C |
6: 50,173,603 (GRCm39) |
I489T |
probably benign |
Het |
Panx3 |
T |
A |
9: 37,572,740 (GRCm39) |
Q270L |
possibly damaging |
Het |
Pde6h |
G |
T |
6: 136,936,317 (GRCm39) |
R20L |
possibly damaging |
Het |
Pdxk |
A |
G |
10: 78,280,840 (GRCm39) |
I200T |
probably benign |
Het |
Ppara |
A |
T |
15: 85,682,392 (GRCm39) |
M363L |
probably damaging |
Het |
Prmt8 |
A |
T |
6: 127,666,846 (GRCm39) |
L376* |
probably null |
Het |
Serpina1a |
G |
C |
12: 103,820,067 (GRCm39) |
T393R |
probably damaging |
Het |
Sfxn1 |
C |
T |
13: 54,247,041 (GRCm39) |
R178C |
probably damaging |
Het |
Sirpb1c |
A |
T |
3: 15,902,559 (GRCm39) |
W7R |
possibly damaging |
Het |
Skint5 |
T |
C |
4: 113,799,857 (GRCm39) |
Y104C |
probably damaging |
Het |
Slamf6 |
A |
T |
1: 171,764,191 (GRCm39) |
T195S |
probably damaging |
Het |
Slc2a6 |
T |
C |
2: 26,914,214 (GRCm39) |
D301G |
probably benign |
Het |
Stab2 |
A |
T |
10: 86,719,646 (GRCm39) |
|
probably null |
Het |
Tctn3 |
C |
G |
19: 40,599,780 (GRCm39) |
D141H |
probably damaging |
Het |
Tnik |
A |
G |
3: 28,715,877 (GRCm39) |
N1164D |
probably damaging |
Het |
Tpcn1 |
C |
T |
5: 120,676,002 (GRCm39) |
V711I |
probably benign |
Het |
Trim11 |
G |
A |
11: 58,869,160 (GRCm39) |
G32D |
probably damaging |
Het |
Usp32 |
TTTGGTTG |
TTTG |
11: 84,910,681 (GRCm39) |
|
probably null |
Het |
Vmn1r72 |
T |
C |
7: 11,403,711 (GRCm39) |
I246V |
probably benign |
Het |
Zfp362 |
G |
T |
4: 128,679,848 (GRCm39) |
R273S |
probably damaging |
Het |
Zfp715 |
T |
C |
7: 42,951,100 (GRCm39) |
D66G |
possibly damaging |
Het |
Zftraf1 |
C |
T |
15: 76,532,386 (GRCm39) |
D241N |
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 |
R4513:Ankrd28
|
UTSW |
14 |
31,465,242 (GRCm39) |
missense |
probably damaging |
1.00 |
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 |
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'- GTAGTCCTTGCAGAAGTTAACATTC -3'
(R):5'- TCATGGTCACCATCAAGCC -3'
Sequencing Primer
(F):5'- CCTCTATTAGGGCTAACAGATGG -3'
(R):5'- CATCAAGCCCTGGAAGTGTTG -3'
|
Posted On |
2019-10-24 |