Incidental Mutation 'R6533:Ankrd28'
| ID |
520223 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ankrd28
|
| Ensembl Gene |
ENSMUSG00000014496 |
| Gene Name |
ankyrin repeat domain 28 |
| Synonyms |
E430019N21Rik |
| MMRRC Submission |
044659-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.284)
|
| Stock # |
R6533 (G1)
|
| Quality Score |
216.009 |
|
Status
|
Validated
|
| Chromosome |
14 |
| Chromosomal Location |
31420725-31552608 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 31454041 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Leucine
at position 244
(I244L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000154197
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000014640]
[ENSMUST00000227089]
[ENSMUST00000227863]
[ENSMUST00000227878]
|
| AlphaFold |
Q505D1 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000014640
AA Change: I398L
PolyPhen 2
Score 0.068 (Sensitivity: 0.94; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000014640
Gene: ENSMUSG00000014496
AA Change: I398L
| 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: ENSMUST00000227083
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000227089
AA Change: I244L
PolyPhen 2
Score 0.487 (Sensitivity: 0.88; Specificity: 0.90)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000227307
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000227863
AA Change: I428L
PolyPhen 2
Score 0.025 (Sensitivity: 0.95; Specificity: 0.81)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000227878
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.4%
- 20x: 98.2%
|
| Validation Efficiency |
100% (44/44) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 44 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700010B08Rik |
C |
T |
2: 173,561,628 (GRCm39) |
|
probably benign |
Het |
| 4932414N04Rik |
G |
T |
2: 68,546,662 (GRCm39) |
E115* |
probably null |
Het |
| Abhd16a |
G |
A |
17: 35,317,785 (GRCm39) |
|
probably null |
Het |
| Barx2 |
T |
C |
9: 31,824,275 (GRCm39) |
Y38C |
probably damaging |
Het |
| Btn2a2 |
C |
A |
13: 23,665,951 (GRCm39) |
E294* |
probably null |
Het |
| Ceacam2 |
C |
G |
7: 25,230,136 (GRCm39) |
V157L |
probably benign |
Het |
| Ces2c |
T |
A |
8: 105,578,725 (GRCm39) |
F334L |
possibly damaging |
Het |
| Col7a1 |
T |
C |
9: 108,790,426 (GRCm39) |
I958T |
unknown |
Het |
| Dcp2 |
T |
A |
18: 44,532,731 (GRCm39) |
D82E |
probably benign |
Het |
| Dnah8 |
T |
C |
17: 30,965,964 (GRCm39) |
L2432S |
probably damaging |
Het |
| Dst |
A |
G |
1: 34,342,590 (GRCm39) |
D7582G |
probably benign |
Het |
| Fat3 |
T |
A |
9: 15,910,195 (GRCm39) |
I1936L |
probably benign |
Het |
| Gsdmc4 |
T |
A |
15: 63,763,909 (GRCm39) |
N396I |
probably damaging |
Het |
| Lonrf2 |
A |
C |
1: 38,852,349 (GRCm39) |
D167E |
probably benign |
Het |
| Marf1 |
T |
C |
16: 13,933,663 (GRCm39) |
D1575G |
probably benign |
Het |
| Med23 |
T |
C |
10: 24,769,518 (GRCm39) |
L101P |
probably damaging |
Het |
| Myh3 |
A |
G |
11: 66,981,245 (GRCm39) |
I703V |
probably damaging |
Het |
| Ncan |
G |
A |
8: 70,549,007 (GRCm39) |
A1257V |
probably benign |
Het |
| Nipal4 |
A |
T |
11: 46,041,234 (GRCm39) |
Y320* |
probably null |
Het |
| Obox5 |
A |
T |
7: 15,491,532 (GRCm39) |
Q24L |
probably benign |
Het |
| Orc1 |
T |
C |
4: 108,454,644 (GRCm39) |
S345P |
probably benign |
Het |
| P4hb |
A |
T |
11: 120,462,469 (GRCm39) |
I79N |
probably damaging |
Het |
| Phf3 |
A |
T |
1: 30,845,399 (GRCm39) |
I1262N |
probably damaging |
Het |
| Pigo |
A |
T |
4: 43,022,697 (GRCm39) |
N291K |
probably benign |
Het |
| Ppargc1b |
C |
T |
18: 61,440,845 (GRCm39) |
R691H |
possibly damaging |
Het |
| Ppm1m |
T |
C |
9: 106,074,069 (GRCm39) |
|
probably benign |
Het |
| Ptprd |
A |
T |
4: 76,046,765 (GRCm39) |
D500E |
probably damaging |
Het |
| Rab3gap2 |
T |
A |
1: 184,965,151 (GRCm39) |
|
probably null |
Het |
| Rnf214 |
A |
G |
9: 45,811,361 (GRCm39) |
S101P |
probably benign |
Het |
| Sdhc |
A |
G |
1: 170,957,396 (GRCm39) |
S162P |
possibly damaging |
Het |
| Spta1 |
C |
T |
1: 174,071,713 (GRCm39) |
T2231I |
probably damaging |
Het |
| Stxbp2 |
T |
A |
8: 3,692,683 (GRCm39) |
D578E |
probably benign |
Het |
| Tacc2 |
A |
T |
7: 130,224,567 (GRCm39) |
E417D |
possibly damaging |
Het |
| Tas2r144 |
A |
T |
6: 42,192,280 (GRCm39) |
N7Y |
probably benign |
Het |
| Tasp1 |
A |
G |
2: 139,676,277 (GRCm39) |
*421R |
probably null |
Het |
| Tigd5 |
A |
G |
15: 75,782,039 (GRCm39) |
I134V |
possibly damaging |
Het |
| Tmem95 |
A |
T |
11: 69,768,843 (GRCm39) |
M1K |
probably null |
Het |
| Trappc10 |
T |
C |
10: 78,024,728 (GRCm39) |
M1134V |
probably damaging |
Het |
| Unc45a |
T |
G |
7: 79,983,817 (GRCm39) |
K326N |
probably damaging |
Het |
| Vmn1r59 |
A |
G |
7: 5,457,463 (GRCm39) |
V99A |
probably benign |
Het |
| Vmn2r4 |
T |
C |
3: 64,322,519 (GRCm39) |
T67A |
probably benign |
Het |
| Vmn2r85 |
A |
T |
10: 130,262,529 (GRCm39) |
M70K |
probably benign |
Het |
| Zftraf1 |
C |
A |
15: 76,531,930 (GRCm39) |
E283* |
probably null |
Het |
| Zkscan8 |
A |
G |
13: 21,704,748 (GRCm39) |
F325S |
probably damaging |
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 |
|
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'- AGAGACAGCCTCCGTGATTCTG -3'
(R):5'- TGCAGACAAGCACTACAGG -3'
Sequencing Primer
(F):5'- CGTGATTCTGCTCCTGCC -3'
(R):5'- CAGACAAGCACTACAGGGTTTG -3'
|
| Posted On |
2018-06-06 |
Incidental Mutation