Incidental Mutation 'R0038:Ankrd28'
ID |
32837 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Ankrd28
|
Ensembl Gene |
ENSMUSG00000014496 |
Gene Name |
ankyrin repeat domain 28 |
Synonyms |
E430019N21Rik |
MMRRC Submission |
038332-MU
|
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.284)
|
Stock # |
R0038 (G1)
|
Quality Score |
225 |
Status
|
Validated
(trace)
|
Chromosome |
14 |
Chromosomal Location |
31420725-31552608 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 31429992 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Methionine to Lysine
at position 892
(M892K)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000153992
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000014640]
[ENSMUST00000227089]
[ENSMUST00000227863]
|
AlphaFold |
Q505D1 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000014640
AA Change: M862K
PolyPhen 2
Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000014640 Gene: ENSMUSG00000014496 AA Change: M862K
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: M708K
PolyPhen 2
Score 0.959 (Sensitivity: 0.78; Specificity: 0.95)
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000227613
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000227863
AA Change: M892K
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
Meta Mutation Damage Score |
0.4349 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.8%
- 20x: 94.2%
|
Validation Efficiency |
100% (72/72) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 57 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Agfg1 |
T |
C |
1: 82,863,823 (GRCm39) |
|
probably benign |
Het |
Arhgef25 |
T |
C |
10: 127,022,734 (GRCm39) |
|
probably benign |
Het |
Arl9 |
G |
A |
5: 77,154,322 (GRCm39) |
E17K |
probably benign |
Het |
Bbs9 |
G |
A |
9: 22,415,390 (GRCm39) |
V105I |
probably benign |
Het |
Celsr1 |
A |
T |
15: 85,813,620 (GRCm39) |
N1997K |
possibly damaging |
Het |
Cic |
T |
A |
7: 24,986,565 (GRCm39) |
S1299T |
probably damaging |
Het |
Cic |
C |
A |
7: 24,986,566 (GRCm39) |
S1299Y |
probably damaging |
Het |
Cldn8 |
A |
G |
16: 88,359,922 (GRCm39) |
M1T |
probably null |
Het |
Clec11a |
A |
G |
7: 43,955,906 (GRCm39) |
|
probably benign |
Het |
Clstn1 |
G |
A |
4: 149,719,253 (GRCm39) |
V361M |
probably damaging |
Het |
Col19a1 |
A |
T |
1: 24,598,825 (GRCm39) |
L56Q |
unknown |
Het |
Col1a2 |
G |
A |
6: 4,518,822 (GRCm39) |
|
probably benign |
Het |
Cyp2b10 |
G |
A |
7: 25,614,287 (GRCm39) |
A254T |
probably benign |
Het |
Ddx39a |
T |
C |
8: 84,449,127 (GRCm39) |
L305P |
probably damaging |
Het |
Depdc5 |
A |
G |
5: 33,026,197 (GRCm39) |
E60G |
probably benign |
Het |
Eif2ak2 |
T |
A |
17: 79,171,384 (GRCm39) |
M340L |
probably benign |
Het |
Etl4 |
A |
T |
2: 20,748,385 (GRCm39) |
H39L |
probably damaging |
Het |
Fat3 |
T |
C |
9: 15,826,306 (GRCm39) |
T4549A |
probably damaging |
Het |
Fbxw28 |
A |
T |
9: 109,167,608 (GRCm39) |
W50R |
probably damaging |
Het |
Ggt7 |
T |
C |
2: 155,344,701 (GRCm39) |
D214G |
probably benign |
Het |
Gramd1b |
G |
A |
9: 40,228,822 (GRCm39) |
T252M |
probably damaging |
Het |
Grin1 |
T |
C |
2: 25,187,471 (GRCm39) |
N613S |
probably null |
Het |
Hcrtr2 |
A |
T |
9: 76,166,963 (GRCm39) |
S125T |
probably benign |
Het |
Hr |
T |
C |
14: 70,805,525 (GRCm39) |
L1091P |
probably damaging |
Het |
Htr2a |
T |
G |
14: 74,943,687 (GRCm39) |
S422R |
probably benign |
Het |
Ighmbp2 |
A |
G |
19: 3,312,097 (GRCm39) |
S886P |
probably damaging |
Het |
Iqcg |
C |
A |
16: 32,866,012 (GRCm39) |
L110F |
probably benign |
Het |
Kirrel3 |
T |
A |
9: 34,823,066 (GRCm39) |
|
probably null |
Het |
Kremen1 |
A |
C |
11: 5,157,703 (GRCm39) |
|
probably benign |
Het |
Lama2 |
T |
C |
10: 26,862,793 (GRCm39) |
D2990G |
probably benign |
Het |
Lin52 |
C |
G |
12: 84,576,499 (GRCm39) |
L111V |
probably damaging |
Het |
Myh15 |
T |
C |
16: 48,891,504 (GRCm39) |
|
probably benign |
Het |
Ncor1 |
A |
G |
11: 62,283,377 (GRCm39) |
F437L |
probably damaging |
Het |
Nlrp1b |
A |
G |
11: 71,062,997 (GRCm39) |
S685P |
possibly damaging |
Het |
Oog4 |
T |
C |
4: 143,165,514 (GRCm39) |
D211G |
probably benign |
Het |
Oscar |
A |
G |
7: 3,619,072 (GRCm39) |
V2A |
probably benign |
Het |
Pdzd8 |
A |
G |
19: 59,288,028 (GRCm39) |
I1124T |
possibly damaging |
Het |
Pgm3 |
A |
T |
9: 86,446,726 (GRCm39) |
|
probably benign |
Het |
Pnpla5 |
A |
G |
15: 84,006,714 (GRCm39) |
Y90H |
probably damaging |
Het |
Polr1b |
C |
T |
2: 128,957,588 (GRCm39) |
R548* |
probably null |
Het |
Ptprg |
T |
A |
14: 12,213,710 (GRCm38) |
M1026K |
probably damaging |
Het |
Rab5b |
C |
T |
10: 128,518,772 (GRCm39) |
R120Q |
probably benign |
Het |
Rapgef2 |
T |
C |
3: 78,976,703 (GRCm39) |
I1368V |
probably benign |
Het |
Rnf168 |
T |
C |
16: 32,117,813 (GRCm39) |
V458A |
probably benign |
Het |
Rnf32 |
T |
C |
5: 29,410,652 (GRCm39) |
|
probably benign |
Het |
Sclt1 |
T |
C |
3: 41,583,943 (GRCm39) |
|
probably benign |
Het |
Serpina12 |
A |
G |
12: 104,004,216 (GRCm39) |
F139L |
probably damaging |
Het |
Sos2 |
T |
G |
12: 69,643,467 (GRCm39) |
Q971P |
probably damaging |
Het |
Stag3 |
T |
A |
5: 138,299,298 (GRCm39) |
|
probably null |
Het |
Stard5 |
T |
C |
7: 83,285,951 (GRCm39) |
|
probably benign |
Het |
Stard9 |
T |
A |
2: 120,526,313 (GRCm39) |
C857S |
probably benign |
Het |
Suclg1 |
A |
G |
6: 73,237,486 (GRCm39) |
E77G |
probably benign |
Het |
Trpm7 |
A |
G |
2: 126,637,388 (GRCm39) |
S204P |
probably damaging |
Het |
Ush2a |
G |
T |
1: 188,358,809 (GRCm39) |
G2112C |
probably benign |
Het |
Vmn2r15 |
T |
A |
5: 109,441,010 (GRCm39) |
T283S |
possibly damaging |
Het |
Wdr6 |
A |
T |
9: 108,450,168 (GRCm39) |
V1120D |
probably damaging |
Het |
Zfp644 |
T |
G |
5: 106,782,909 (GRCm39) |
E1155A |
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 |
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 |
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'- TCTTGGGCAGCAGAGTGTATAGGAA -3'
(R):5'- TCAACAGGAGAAAGCATGGGGACTATT -3'
Sequencing Primer
(F):5'- CAGAGTGTATAGGAACAAACTAAGC -3'
(R):5'- ACCCTTGAAAACTTTGTTCTAGTC -3'
|
Posted On |
2013-05-09 |