Incidental Mutation 'RF037:Ankrd24'
| ID |
604633 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ankrd24
|
| Ensembl Gene |
ENSMUSG00000054708 |
| Gene Name |
ankyrin repeat domain 24 |
| Synonyms |
4631433D01Rik, D10Bur2e, 5730519E19Rik |
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.730)
|
| Stock # |
RF037 (G1)
|
| Quality Score |
214.458 |
|
Status
|
Not validated
|
| Chromosome |
10 |
| Chromosomal Location |
81464374-81483444 bp(+) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
GAGG to GAGGCAGAGGCTTAGG
at 81479407 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000112932
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000119336]
[ENSMUST00000123993]
[ENSMUST00000126323]
|
| AlphaFold |
Q80VM7 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000119336
|
| SMART Domains |
Protein: ENSMUSP00000112932
Gene: ENSMUSG00000054708
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:ANK
|
18 |
48 |
1e-6 |
BLAST |
|
ANK
|
52 |
81 |
2.92e-2 |
SMART |
|
ANK
|
85 |
114 |
7.53e-5 |
SMART |
|
ANK
|
118 |
149 |
4.07e-1 |
SMART |
|
ANK
|
151 |
180 |
2.92e-2 |
SMART |
|
ANK
|
184 |
213 |
3.97e-4 |
SMART |
|
low complexity region
|
240 |
250 |
N/A |
INTRINSIC |
|
low complexity region
|
269 |
283 |
N/A |
INTRINSIC |
|
internal_repeat_2
|
488 |
606 |
4.87e-8 |
PROSPERO |
|
internal_repeat_2
|
597 |
713 |
4.87e-8 |
PROSPERO |
|
low complexity region
|
718 |
736 |
N/A |
INTRINSIC |
|
coiled coil region
|
747 |
895 |
N/A |
INTRINSIC |
|
Blast:ANK
|
950 |
977 |
3e-6 |
BLAST |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000123305
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000123993
|
| SMART Domains |
Protein: ENSMUSP00000117975
Gene: ENSMUSG00000054708
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
21 |
N/A |
INTRINSIC |
|
Blast:ANK
|
48 |
78 |
2e-8 |
BLAST |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000126323
|
| SMART Domains |
Protein: ENSMUSP00000118286
Gene: ENSMUSG00000054708
| Domain | Start | End | E-Value | Type |
|---|
|
ANK
|
7 |
36 |
2.92e-2 |
SMART |
|
ANK
|
40 |
69 |
3.97e-4 |
SMART |
|
low complexity region
|
96 |
106 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000132458
|
| SMART Domains |
Protein: ENSMUSP00000121709
Gene: ENSMUSG00000054708
| Domain | Start | End | E-Value | Type |
|---|
|
coiled coil region
|
1 |
94 |
N/A |
INTRINSIC |
|
Blast:ANK
|
142 |
175 |
3e-7 |
BLAST |
|
| Coding Region Coverage |
- 1x: 99.8%
- 3x: 99.7%
- 10x: 99.3%
- 20x: 98.4%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 35 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 5430401F13Rik |
AAGGAAAAGGTGGCCAG |
AAGGAAAAGGTGGCCAGCAAAAACAGAAAGGAAAAGGTGGCCAG |
6: 131,529,850 (GRCm39) |
|
probably benign |
Het |
| 5430401F13Rik |
AGGAAAAGGTGGCCAG |
AGGAAAAGGTGGCCAGCAAAAACAGAAAGGAAAAGGTGGCCAG |
6: 131,529,851 (GRCm39) |
|
probably benign |
Het |
| Abcf1 |
TGTC |
T |
17: 36,274,080 (GRCm39) |
|
probably benign |
Het |
| Ckap2l |
TGCA |
T |
2: 129,112,569 (GRCm39) |
|
probably benign |
Het |
| Cox7a2l |
GGA |
GGAGGGGGA |
17: 83,810,151 (GRCm39) |
|
probably benign |
Het |
| Cpne1 |
TCCAC |
TC |
2: 155,915,430 (GRCm39) |
|
probably benign |
Het |
| Dnmt1 |
GGGGCGGAGCACAGTTCCTA |
GGGGCGGAGCACAGTTCCTATCTCGTATTGTGGGCGGAGCACAGTTCCTA |
9: 20,821,415 (GRCm39) |
|
probably benign |
Het |
| Dnmt1 |
TCGTT |
TCGTTTTGGGGGCTGAGCACAGTTCCTACCGCGTT |
9: 20,821,437 (GRCm39) |
|
probably null |
Het |
| Dnmt1 |
TTCCTACCTCGTT |
TTCCTACCTCGTTTTGGGGGCGGAGCATAGGTCCTACCTCGTT |
9: 20,821,429 (GRCm39) |
|
probably null |
Het |
| Ehbp1 |
ACTG |
A |
11: 21,956,783 (GRCm39) |
|
probably benign |
Het |
| Eml6 |
TCCTAAAAAAACAAAAC |
TC |
11: 29,702,549 (GRCm39) |
|
probably benign |
Het |
| Fbrsl1 |
G |
GCGTGTGCTAGTA |
5: 110,526,017 (GRCm39) |
|
probably null |
Het |
| Gabre |
CTC |
CTCCGGGTC |
X: 71,313,667 (GRCm39) |
|
probably benign |
Het |
| Gm8369 |
GTG |
GTGGGTATG |
19: 11,489,146 (GRCm39) |
|
probably benign |
Het |
| Igf1r |
GGAGATGGAGC |
GGAGATGGAGCTTGAGATGGAGC |
7: 67,875,924 (GRCm39) |
|
probably benign |
Het |
| Krtap28-10 |
ACAG |
ACAGCCCCAG |
1: 83,019,866 (GRCm39) |
|
probably benign |
Het |
| Krtap28-10 |
ACAGC |
ACAGCCACAGCCACCCCAGC |
1: 83,020,007 (GRCm39) |
|
probably benign |
Het |
| Lce1m |
C |
CCGCTGCTGCCAT |
3: 92,925,607 (GRCm39) |
|
probably benign |
Het |
| Lrch1 |
CGTGGTGCTGGTGGTGTTGGTGGTGTTGGTGGTGCTGGTGG |
CGTGGTGTTGGTGGTGTTGGTGGTGCTGGTGG |
14: 75,184,989 (GRCm39) |
|
probably benign |
Het |
| Map1a |
AGCTCCAGCTCCAGCTCCAGCTCCA |
AGCTCCAGCTCCAGCTCCAGCTCCAGCTCCGGCTCCAGCTCCAGCTCCAGCTCCA |
2: 121,136,775 (GRCm39) |
|
probably benign |
Het |
| Mast4 |
CCTCGGGGACAAGCTGTGAGTTGGGGAAC |
CC |
13: 102,875,749 (GRCm39) |
|
probably benign |
Het |
| Med12l |
GCAACA |
GCAACAACA |
3: 59,183,377 (GRCm39) |
|
probably benign |
Het |
| Nefh |
TGGGGACTTGG |
TGGGGACTTGGACTCCCCGGGGGACTTGG |
11: 4,891,046 (GRCm39) |
|
probably benign |
Het |
| Nefh |
TTGGCCTCAGCTGGGGACTTGGCCTCA |
TTGGCCTCAGCTGGAGACTTGGCCTCAGCTGGGGACTTGGCCTCA |
11: 4,890,999 (GRCm39) |
|
probably benign |
Het |
| Nefh |
TGGC |
TGGCGTCACCTGGGGACTGGGC |
11: 4,891,054 (GRCm39) |
|
probably benign |
Het |
| Nusap1 |
AGCAGTGAGGAGCAAGCTGAGA |
AGCAGTGAGGAGCAAGCTGAGATACACGTTCGCAGTGAGGAGCAAGCTGAGA |
2: 119,458,070 (GRCm39) |
|
probably benign |
Het |
| Or4k41 |
G |
A |
2: 111,279,896 (GRCm39) |
G137D |
not run |
Het |
| Ren1 |
ACCGC |
AC |
1: 133,278,519 (GRCm39) |
|
probably benign |
Het |
| Sbp |
AAGATG |
AAGATGCTGACAACAGAGATG |
17: 24,164,358 (GRCm39) |
|
probably benign |
Het |
| Sbp |
ATG |
ATGCTGACAACAAAGCTG |
17: 24,164,361 (GRCm39) |
|
probably benign |
Het |
| Six5 |
CGGA |
C |
7: 18,828,725 (GRCm39) |
|
probably benign |
Het |
| Spmap2l |
CAAGGCCAG |
CAAGGCCAGCGATCCTCCCCAGTCCCGAAAGGCCAG |
5: 77,164,268 (GRCm39) |
|
probably benign |
Het |
| Tgoln1 |
TGGGCTTG |
TGGGCTTGTCAGAATCACCTCCTGGGGGCTTG |
6: 72,593,019 (GRCm39) |
|
probably benign |
Het |
| Ufl1 |
C |
T |
4: 25,280,628 (GRCm39) |
R73Q |
possibly damaging |
Het |
| Zfhx3 |
CAGCAGCA |
CAGCAGCAATAGCAGCA |
8: 109,682,730 (GRCm39) |
|
probably null |
Het |
|
| Other mutations in Ankrd24 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00776:Ankrd24
|
APN |
10 |
81,478,979 (GRCm39) |
unclassified |
probably benign |
|
|
IGL00809:Ankrd24
|
APN |
10 |
81,478,901 (GRCm39) |
unclassified |
probably benign |
|
|
IGL01021:Ankrd24
|
APN |
10 |
81,470,995 (GRCm39) |
splice site |
probably null |
|
|
IGL01073:Ankrd24
|
APN |
10 |
81,475,156 (GRCm39) |
missense |
possibly damaging |
0.76 |
|
IGL01875:Ankrd24
|
APN |
10 |
81,465,571 (GRCm39) |
unclassified |
probably benign |
|
|
IGL03083:Ankrd24
|
APN |
10 |
81,474,483 (GRCm39) |
missense |
probably benign |
|
|
IGL03335:Ankrd24
|
APN |
10 |
81,482,967 (GRCm39) |
missense |
probably benign |
0.18 |
|
R0129:Ankrd24
|
UTSW |
10 |
81,474,163 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0243:Ankrd24
|
UTSW |
10 |
81,470,778 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0522:Ankrd24
|
UTSW |
10 |
81,472,189 (GRCm39) |
splice site |
probably benign |
|
|
R0607:Ankrd24
|
UTSW |
10 |
81,474,142 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R0707:Ankrd24
|
UTSW |
10 |
81,478,547 (GRCm39) |
unclassified |
probably benign |
|
|
R1472:Ankrd24
|
UTSW |
10 |
81,470,754 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1766:Ankrd24
|
UTSW |
10 |
81,474,472 (GRCm39) |
missense |
probably benign |
0.13 |
|
R1852:Ankrd24
|
UTSW |
10 |
81,478,775 (GRCm39) |
unclassified |
probably benign |
|
|
R1891:Ankrd24
|
UTSW |
10 |
81,479,342 (GRCm39) |
unclassified |
probably benign |
|
|
R2137:Ankrd24
|
UTSW |
10 |
81,482,143 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3790:Ankrd24
|
UTSW |
10 |
81,478,513 (GRCm39) |
unclassified |
probably benign |
|
|
R4798:Ankrd24
|
UTSW |
10 |
81,479,149 (GRCm39) |
unclassified |
probably benign |
|
|
R4952:Ankrd24
|
UTSW |
10 |
81,482,982 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5068:Ankrd24
|
UTSW |
10 |
81,475,699 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R5237:Ankrd24
|
UTSW |
10 |
81,478,379 (GRCm39) |
unclassified |
probably benign |
|
|
R5418:Ankrd24
|
UTSW |
10 |
81,480,776 (GRCm39) |
unclassified |
probably benign |
|
|
R5795:Ankrd24
|
UTSW |
10 |
81,480,937 (GRCm39) |
unclassified |
probably benign |
|
|
R7188:Ankrd24
|
UTSW |
10 |
81,472,224 (GRCm39) |
nonsense |
probably null |
|
|
R7614:Ankrd24
|
UTSW |
10 |
81,474,523 (GRCm39) |
missense |
unknown |
|
|
R7750:Ankrd24
|
UTSW |
10 |
81,482,628 (GRCm39) |
missense |
possibly damaging |
0.72 |
|
R8004:Ankrd24
|
UTSW |
10 |
81,474,191 (GRCm39) |
missense |
unknown |
|
|
R8190:Ankrd24
|
UTSW |
10 |
81,474,152 (GRCm39) |
missense |
unknown |
|
|
R8415:Ankrd24
|
UTSW |
10 |
81,475,947 (GRCm39) |
missense |
unknown |
|
|
R8670:Ankrd24
|
UTSW |
10 |
81,465,526 (GRCm39) |
start gained |
probably benign |
|
|
R8898:Ankrd24
|
UTSW |
10 |
81,478,352 (GRCm39) |
missense |
unknown |
|
|
R9475:Ankrd24
|
UTSW |
10 |
81,478,133 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R9593:Ankrd24
|
UTSW |
10 |
81,475,898 (GRCm39) |
missense |
unknown |
|
|
R9744:Ankrd24
|
UTSW |
10 |
81,482,951 (GRCm39) |
missense |
possibly damaging |
0.70 |
|
R9780:Ankrd24
|
UTSW |
10 |
81,482,196 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
RF001:Ankrd24
|
UTSW |
10 |
81,479,405 (GRCm39) |
unclassified |
probably benign |
|
|
RF011:Ankrd24
|
UTSW |
10 |
81,479,405 (GRCm39) |
unclassified |
probably benign |
|
|
RF061:Ankrd24
|
UTSW |
10 |
81,479,401 (GRCm39) |
nonsense |
probably null |
|
|
Z1088:Ankrd24
|
UTSW |
10 |
81,474,490 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGACAGAGACTACGGAAGCC -3'
(R):5'- AGACCTCTGCGCTAGTCTTC -3'
Sequencing Primer
(F):5'- GGAAGCCGAGACCAGCG -3'
(R):5'- AGTCTTCTCGTGCCTGCG -3'
|
| Posted On |
2019-12-04 |
Incidental Mutation