Incidental Mutation 'R6358:Ankrd28'
ID |
513362 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Ankrd28
|
Ensembl Gene |
ENSMUSG00000014496 |
Gene Name |
ankyrin repeat domain 28 |
Synonyms |
E430019N21Rik |
MMRRC Submission |
044508-MU
|
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.284)
|
Stock # |
R6358 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
14 |
Chromosomal Location |
31420725-31552608 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to C
at 31432821 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Cysteine to Tryptophan
at position 575
(C575W)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000154197
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000014640]
[ENSMUST00000227089]
[ENSMUST00000227863]
|
AlphaFold |
Q505D1 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000014640
AA Change: C729W
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
SMART Domains |
Protein: ENSMUSP00000014640 Gene: ENSMUSG00000014496 AA Change: C729W
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: C575W
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000227613
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000227863
AA Change: C759W
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.2%
- 20x: 94.8%
|
Validation Efficiency |
100% (61/61) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 61 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adam39 |
T |
C |
8: 41,279,718 (GRCm39) |
V703A |
probably benign |
Het |
Adgrv1 |
T |
A |
13: 81,562,702 (GRCm39) |
Q5389L |
probably damaging |
Het |
Aldh18a1 |
A |
T |
19: 40,566,122 (GRCm39) |
I42N |
possibly damaging |
Het |
Car14 |
T |
A |
3: 95,805,487 (GRCm39) |
T329S |
possibly damaging |
Het |
Cdhr2 |
T |
C |
13: 54,884,359 (GRCm39) |
F1298S |
probably damaging |
Het |
Crhr2 |
A |
G |
6: 55,070,028 (GRCm39) |
I341T |
probably benign |
Het |
D5Ertd579e |
T |
A |
5: 36,773,580 (GRCm39) |
|
probably null |
Het |
Eif1ad3 |
A |
G |
12: 87,843,770 (GRCm39) |
E139G |
unknown |
Het |
Emilin1 |
A |
G |
5: 31,075,562 (GRCm39) |
E601G |
probably damaging |
Het |
Erbin |
T |
A |
13: 103,982,073 (GRCm39) |
Q456L |
probably damaging |
Het |
Glp1r |
T |
C |
17: 31,151,618 (GRCm39) |
V405A |
probably benign |
Het |
Gm10220 |
C |
G |
5: 26,325,303 (GRCm39) |
|
probably null |
Het |
Gm527 |
A |
T |
12: 64,970,322 (GRCm39) |
H219L |
possibly damaging |
Het |
Gorasp2 |
T |
A |
2: 70,503,104 (GRCm39) |
M1K |
probably null |
Het |
H2-DMa |
T |
A |
17: 34,356,958 (GRCm39) |
L152H |
probably damaging |
Het |
Hsd3b7 |
T |
A |
7: 127,400,709 (GRCm39) |
H54Q |
probably damaging |
Het |
Hspa12b |
T |
C |
2: 130,978,986 (GRCm39) |
|
probably benign |
Het |
Iars1 |
C |
A |
13: 49,880,619 (GRCm39) |
T1006K |
possibly damaging |
Het |
Jmjd1c |
T |
C |
10: 67,061,718 (GRCm39) |
V1357A |
probably benign |
Het |
Magi3 |
T |
C |
3: 103,958,268 (GRCm39) |
M606V |
probably damaging |
Het |
Mia |
T |
C |
7: 26,880,403 (GRCm39) |
D24G |
probably benign |
Het |
Mon2 |
A |
T |
10: 122,849,409 (GRCm39) |
L1297Q |
probably damaging |
Het |
Musk |
T |
A |
4: 58,373,171 (GRCm39) |
S691T |
possibly damaging |
Het |
Myo5c |
A |
T |
9: 75,203,294 (GRCm39) |
E1463D |
possibly damaging |
Het |
Ndufs6 |
C |
T |
13: 73,468,438 (GRCm39) |
G87D |
probably damaging |
Het |
Npnt |
C |
T |
3: 132,610,479 (GRCm39) |
V415I |
probably benign |
Het |
Ntsr2 |
A |
G |
12: 16,706,769 (GRCm39) |
I266V |
probably benign |
Het |
Or11j4 |
A |
T |
14: 50,630,845 (GRCm39) |
I211F |
possibly damaging |
Het |
Or5aq7 |
T |
C |
2: 86,938,778 (GRCm39) |
|
probably benign |
Het |
Pkmyt1 |
T |
A |
17: 23,952,630 (GRCm39) |
|
probably null |
Het |
Polr1e |
T |
C |
4: 45,026,813 (GRCm39) |
L166P |
probably damaging |
Het |
Ppib |
T |
G |
9: 65,968,756 (GRCm39) |
F48C |
probably damaging |
Het |
Ppl |
C |
A |
16: 4,905,793 (GRCm39) |
E1501* |
probably null |
Het |
Prpf8 |
T |
C |
11: 75,382,321 (GRCm39) |
V384A |
probably benign |
Het |
Ptch1 |
T |
G |
13: 63,661,503 (GRCm39) |
S1212R |
probably damaging |
Het |
Ralb |
C |
A |
1: 119,403,735 (GRCm39) |
D131Y |
probably damaging |
Het |
Rfx4 |
T |
A |
10: 84,680,099 (GRCm39) |
M141K |
probably damaging |
Het |
Rgl2 |
T |
A |
17: 34,156,105 (GRCm39) |
|
probably null |
Het |
Rpl27 |
A |
G |
11: 101,334,782 (GRCm39) |
|
probably benign |
Het |
Sdc1 |
A |
C |
12: 8,841,297 (GRCm39) |
T213P |
probably damaging |
Het |
Setx |
T |
A |
2: 29,061,360 (GRCm39) |
N2256K |
possibly damaging |
Het |
Shank2 |
A |
G |
7: 143,585,034 (GRCm39) |
M12V |
probably benign |
Het |
Slc22a28 |
T |
A |
19: 8,049,253 (GRCm39) |
K332M |
probably damaging |
Het |
Slf2 |
A |
T |
19: 44,923,864 (GRCm39) |
H226L |
probably benign |
Het |
Tbc1d10b |
T |
C |
7: 126,802,584 (GRCm39) |
S362G |
probably benign |
Het |
Tbxas1 |
G |
A |
6: 38,929,046 (GRCm39) |
|
probably benign |
Het |
Tctn1 |
A |
G |
5: 122,399,575 (GRCm39) |
V83A |
probably damaging |
Het |
Tgm4 |
A |
G |
9: 122,885,583 (GRCm39) |
E375G |
probably damaging |
Het |
Tmeff2 |
T |
A |
1: 51,172,273 (GRCm39) |
Y247* |
probably null |
Het |
Tmem167b |
C |
T |
3: 108,466,211 (GRCm39) |
R79H |
possibly damaging |
Het |
Tmprss7 |
T |
G |
16: 45,489,936 (GRCm39) |
M429L |
probably benign |
Het |
Tnfsf18 |
T |
A |
1: 161,331,148 (GRCm39) |
D99E |
probably benign |
Het |
Tnrc18 |
A |
T |
5: 142,713,736 (GRCm39) |
S2534T |
probably damaging |
Het |
Tnxb |
A |
G |
17: 34,897,968 (GRCm39) |
E872G |
probably damaging |
Het |
Tomm40l |
C |
T |
1: 171,047,206 (GRCm39) |
V237I |
possibly damaging |
Het |
Trbv2 |
A |
G |
6: 41,024,836 (GRCm39) |
Q84R |
probably benign |
Het |
Tspan18 |
T |
C |
2: 93,040,219 (GRCm39) |
R179G |
probably benign |
Het |
Tspan8 |
G |
T |
10: 115,669,132 (GRCm39) |
V56L |
probably benign |
Het |
Zbtb22 |
T |
C |
17: 34,137,711 (GRCm39) |
S619P |
probably damaging |
Het |
Zfp2 |
A |
T |
11: 50,791,428 (GRCm39) |
I205N |
probably damaging |
Het |
Zfpm1 |
A |
G |
8: 123,063,850 (GRCm39) |
|
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 |
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'- TGTTTACTTAGTACCCAGTAGGC -3'
(R):5'- TCACTACTGAACAAAGGAGCAAATG -3'
Sequencing Primer
(F):5'- GCAGACACTCAAAGCAGGTTTTTATC -3'
(R):5'- TTGCACAGAGGGGTGAGCC -3'
|
Posted On |
2018-04-27 |