Incidental Mutation 'R8401:Ankrd28'
| ID |
652210 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ankrd28
|
| Ensembl Gene |
ENSMUSG00000014496 |
| Gene Name |
ankyrin repeat domain 28 |
| Synonyms |
E430019N21Rik |
| MMRRC Submission |
067877-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.312)
|
| Stock # |
R8401 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
14 |
| Chromosomal Location |
31420725-31552608 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 31467251 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Cysteine
at position 207
(Y207C)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000014640
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000014640]
[ENSMUST00000227089]
[ENSMUST00000227863]
[ENSMUST00000227878]
[ENSMUST00000228037]
|
| AlphaFold |
Q505D1 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000014640
AA Change: Y207C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000014640
Gene: ENSMUSG00000014496
AA Change: Y207C
| 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 damaging
Transcript: ENSMUST00000227089
AA Change: Y53C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000227863
AA Change: Y237C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000227878
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000228037
AA Change: Y179C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.3%
|
| Validation Efficiency |
98% (55/56) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 55 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ano8 |
T |
C |
8: 71,936,011 (GRCm39) |
D235G |
probably damaging |
Het |
| Atp2b4 |
T |
A |
1: 133,659,574 (GRCm39) |
I463F |
probably damaging |
Het |
| Brca2 |
T |
A |
5: 150,475,817 (GRCm39) |
I2509N |
probably damaging |
Het |
| Brinp3 |
T |
C |
1: 146,777,184 (GRCm39) |
S544P |
probably benign |
Het |
| Chd1 |
A |
G |
17: 15,963,473 (GRCm39) |
Y824C |
probably damaging |
Het |
| Dapk1 |
T |
C |
13: 60,870,904 (GRCm39) |
V330A |
probably benign |
Het |
| Dct |
T |
C |
14: 118,280,615 (GRCm39) |
T134A |
possibly damaging |
Het |
| Ddx56 |
T |
C |
11: 6,214,199 (GRCm39) |
D350G |
probably damaging |
Het |
| Ddx60 |
C |
T |
8: 62,409,277 (GRCm39) |
L438F |
possibly damaging |
Het |
| Dnah17 |
T |
A |
11: 117,915,485 (GRCm39) |
K4378M |
probably damaging |
Het |
| Drc7 |
C |
T |
8: 95,800,763 (GRCm39) |
S595F |
probably benign |
Het |
| Epb41 |
C |
T |
4: 131,702,018 (GRCm39) |
R539Q |
probably damaging |
Het |
| Foxred2 |
T |
C |
15: 77,836,191 (GRCm39) |
I389V |
probably damaging |
Het |
| Gan |
C |
A |
8: 117,910,242 (GRCm39) |
T57K |
possibly damaging |
Het |
| Glra3 |
T |
C |
8: 56,542,124 (GRCm39) |
V289A |
probably damaging |
Het |
| Grk1 |
T |
C |
8: 13,457,846 (GRCm39) |
F249L |
probably damaging |
Het |
| Grk6 |
G |
A |
13: 55,599,981 (GRCm39) |
A258T |
possibly damaging |
Het |
| Hars1 |
T |
C |
18: 36,904,243 (GRCm39) |
N212S |
possibly damaging |
Het |
| Ikzf2 |
C |
A |
1: 69,578,254 (GRCm39) |
Q418H |
probably damaging |
Het |
| Ikzf2 |
T |
G |
1: 69,578,255 (GRCm39) |
Q418P |
probably damaging |
Het |
| Klre1 |
T |
A |
6: 129,556,989 (GRCm39) |
N30K |
probably benign |
Het |
| Lama5 |
G |
T |
2: 179,840,580 (GRCm39) |
D606E |
probably damaging |
Het |
| Lca5l |
T |
C |
16: 95,963,760 (GRCm39) |
K393R |
probably damaging |
Het |
| Lmbrd2 |
A |
T |
15: 9,156,294 (GRCm39) |
I124F |
possibly damaging |
Het |
| Loxhd1 |
C |
A |
18: 77,468,156 (GRCm39) |
P935T |
probably damaging |
Het |
| Nes |
T |
C |
3: 87,885,388 (GRCm39) |
S1216P |
possibly damaging |
Het |
| Nim1k |
A |
G |
13: 120,174,213 (GRCm39) |
L227P |
probably damaging |
Het |
| Nkx2-1 |
C |
A |
12: 56,579,841 (GRCm39) |
L366F |
probably damaging |
Het |
| Nol6 |
C |
A |
4: 41,119,548 (GRCm39) |
R586L |
possibly damaging |
Het |
| Ogdh |
T |
A |
11: 6,247,174 (GRCm39) |
L66* |
probably null |
Het |
| Or2b28 |
A |
T |
13: 21,531,997 (GRCm39) |
I300L |
probably benign |
Het |
| Orm3 |
A |
G |
4: 63,274,467 (GRCm39) |
S11G |
possibly damaging |
Het |
| Pkn3 |
C |
A |
2: 29,970,071 (GRCm39) |
S126R |
probably benign |
Het |
| Pnpla8 |
T |
A |
12: 44,335,091 (GRCm39) |
D442E |
probably damaging |
Het |
| Pop1 |
A |
T |
15: 34,508,755 (GRCm39) |
T277S |
probably damaging |
Het |
| Prkag2 |
T |
C |
5: 25,068,868 (GRCm39) |
T563A |
probably benign |
Het |
| Prkdc |
T |
A |
16: 15,591,477 (GRCm39) |
F2652I |
possibly damaging |
Het |
| Prok1 |
A |
G |
3: 107,144,513 (GRCm39) |
I30T |
probably benign |
Het |
| Prr9 |
T |
G |
3: 92,030,356 (GRCm39) |
T95P |
possibly damaging |
Het |
| Ptgds |
A |
G |
2: 25,359,669 (GRCm39) |
M6T |
unknown |
Het |
| Rnaseh2b |
T |
A |
14: 62,607,938 (GRCm39) |
D250E |
probably benign |
Het |
| Rundc1 |
C |
T |
11: 101,324,383 (GRCm39) |
T363M |
probably damaging |
Het |
| Ryr2 |
T |
A |
13: 11,683,821 (GRCm39) |
H3081L |
possibly damaging |
Het |
| Setmar |
T |
C |
6: 108,053,124 (GRCm39) |
I206T |
probably benign |
Het |
| Skic8 |
A |
T |
9: 54,635,539 (GRCm39) |
S21T |
probably benign |
Het |
| Slitrk6 |
A |
G |
14: 110,989,453 (GRCm39) |
S85P |
possibly damaging |
Het |
| Spi1 |
A |
G |
2: 90,943,650 (GRCm39) |
N65D |
probably benign |
Het |
| Stx1b |
A |
T |
7: 127,406,945 (GRCm39) |
|
probably benign |
Het |
| Trav5-4 |
G |
A |
14: 53,941,750 (GRCm39) |
S41N |
probably benign |
Het |
| Tspan14 |
T |
C |
14: 40,630,049 (GRCm39) |
D260G |
probably benign |
Het |
| Ube4a |
T |
C |
9: 44,852,527 (GRCm39) |
D645G |
possibly damaging |
Het |
| Ush2a |
C |
T |
1: 188,275,062 (GRCm39) |
T1845I |
probably benign |
Het |
| Vps18 |
T |
C |
2: 119,127,973 (GRCm39) |
L932P |
probably damaging |
Het |
| Zfp62 |
T |
A |
11: 49,108,218 (GRCm39) |
C770S |
probably damaging |
Het |
| Zfp672 |
T |
C |
11: 58,207,628 (GRCm39) |
K231R |
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 |
|
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 |
|
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'- GCAGTATACTAGCTAGTGAAGAGTTAG -3'
(R):5'- TCATGCCATGACCTGACAGAG -3'
Sequencing Primer
(F):5'- GCTAGTGAAGAGTTAGAAAGACTTG -3'
(R):5'- GAACAAGATCTAGTCAAGGTTAACAC -3'
|
| Posted On |
2020-10-20 |
Incidental Mutation