Incidental Mutation 'R7123:Aknad1'
ID |
552127 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Aknad1
|
Ensembl Gene |
ENSMUSG00000049565 |
Gene Name |
AKNA domain containing 1 |
Synonyms |
4921525H12Rik |
MMRRC Submission |
045211-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.067)
|
Stock # |
R7123 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
3 |
Chromosomal Location |
108646974-108689625 bp(+) (GRCm39) |
Type of Mutation |
nonsense |
DNA Base Change (assembly) |
T to G
at 108682560 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tyrosine to Stop codon
at position 545
(Y545*)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000121755
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000123556]
[ENSMUST00000133931]
|
AlphaFold |
E9Q8N6 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000123556
|
SMART Domains |
Protein: ENSMUSP00000125068 Gene: ENSMUSG00000049565
Domain | Start | End | E-Value | Type |
Pfam:AKNA
|
322 |
414 |
3.4e-44 |
PFAM |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000133931
AA Change: Y545*
|
SMART Domains |
Protein: ENSMUSP00000121755 Gene: ENSMUSG00000049565 AA Change: Y545*
Domain | Start | End | E-Value | Type |
Pfam:AKNA
|
322 |
415 |
2.5e-35 |
PFAM |
low complexity region
|
557 |
572 |
N/A |
INTRINSIC |
|
Meta Mutation Damage Score |
0.9755 |
Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.1%
|
Validation Efficiency |
98% (52/53) |
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein which contains a domain found in an AT-hook-containing transcription factor. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2012]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 51 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca17 |
A |
G |
17: 24,484,949 (GRCm39) |
I1521T |
probably damaging |
Het |
Adgrv1 |
A |
T |
13: 81,740,693 (GRCm39) |
I145N |
probably damaging |
Het |
Ago3 |
C |
A |
4: 126,248,798 (GRCm39) |
|
probably null |
Het |
Agrn |
A |
T |
4: 156,257,297 (GRCm39) |
W1178R |
probably benign |
Het |
Akap3 |
A |
T |
6: 126,843,267 (GRCm39) |
I629L |
probably benign |
Het |
Anapc1 |
C |
A |
2: 128,454,930 (GRCm39) |
V1925F |
probably damaging |
Het |
Barhl1 |
C |
T |
2: 28,799,943 (GRCm39) |
|
probably null |
Het |
Cfap157 |
T |
C |
2: 32,669,413 (GRCm39) |
E294G |
probably damaging |
Het |
Cfd |
G |
A |
10: 79,728,331 (GRCm39) |
G231S |
probably damaging |
Het |
Csf2ra |
A |
G |
19: 61,215,300 (GRCm39) |
V105A |
probably damaging |
Het |
Dhtkd1 |
A |
T |
2: 5,922,591 (GRCm39) |
W523R |
probably damaging |
Het |
Disp1 |
C |
A |
1: 182,869,030 (GRCm39) |
R1130L |
probably damaging |
Het |
Dnajc22 |
A |
C |
15: 98,999,085 (GRCm39) |
Y90S |
possibly damaging |
Het |
Ebna1bp2 |
A |
G |
4: 118,482,772 (GRCm39) |
K254E |
probably damaging |
Het |
Gfpt1 |
A |
T |
6: 87,033,168 (GRCm39) |
D131V |
probably damaging |
Het |
Gm5460 |
A |
G |
14: 33,763,982 (GRCm39) |
I21V |
unknown |
Het |
H2-T9 |
A |
G |
17: 36,438,686 (GRCm39) |
I235T |
possibly damaging |
Het |
Htr1d |
C |
T |
4: 136,169,664 (GRCm39) |
|
probably benign |
Het |
Kndc1 |
G |
A |
7: 139,516,749 (GRCm39) |
E1570K |
probably damaging |
Het |
Kntc1 |
T |
C |
5: 123,919,789 (GRCm39) |
Y887H |
probably damaging |
Het |
Kti12 |
T |
C |
4: 108,705,679 (GRCm39) |
S198P |
probably benign |
Het |
Mcmdc2 |
A |
T |
1: 10,010,643 (GRCm39) |
I604F |
unknown |
Het |
Mmp8 |
A |
T |
9: 7,563,196 (GRCm39) |
D253V |
probably damaging |
Het |
Muc4 |
T |
C |
16: 32,569,509 (GRCm39) |
S252P |
possibly damaging |
Het |
Myo5c |
A |
G |
9: 75,196,505 (GRCm39) |
K1317R |
probably benign |
Het |
Ncoa7 |
T |
C |
10: 30,530,435 (GRCm39) |
I749V |
probably benign |
Het |
Nfrkb |
A |
G |
9: 31,325,311 (GRCm39) |
|
probably null |
Het |
Obscn |
T |
C |
11: 58,904,477 (GRCm39) |
T7166A |
probably benign |
Het |
Obsl1 |
A |
G |
1: 75,466,313 (GRCm39) |
S1472P |
probably damaging |
Het |
Or14j7 |
T |
A |
17: 38,234,567 (GRCm39) |
L37M |
probably benign |
Het |
Or1e20-ps1 |
T |
A |
11: 73,324,536 (GRCm39) |
D172V |
unknown |
Het |
Orc1 |
A |
C |
4: 108,445,884 (GRCm39) |
M1L |
probably damaging |
Het |
Pkd1 |
T |
A |
17: 24,813,742 (GRCm39) |
S4069T |
possibly damaging |
Het |
Pus1 |
T |
C |
5: 110,921,798 (GRCm39) |
*442W |
probably null |
Het |
Rgma |
A |
C |
7: 73,059,139 (GRCm39) |
D97A |
probably damaging |
Het |
Ryr1 |
T |
C |
7: 28,746,279 (GRCm39) |
K3834E |
probably benign |
Het |
Sars2 |
T |
C |
7: 28,452,866 (GRCm39) |
V475A |
probably benign |
Het |
Scamp2 |
A |
T |
9: 57,494,385 (GRCm39) |
T253S |
probably benign |
Het |
Skint9 |
C |
T |
4: 112,248,174 (GRCm39) |
W190* |
probably null |
Het |
Spata31d1e |
G |
A |
13: 59,891,254 (GRCm39) |
Q189* |
probably null |
Het |
Sv2b |
C |
T |
7: 74,767,450 (GRCm39) |
V649I |
possibly damaging |
Het |
Synpo2 |
A |
G |
3: 122,906,835 (GRCm39) |
V827A |
probably benign |
Het |
Tiparp |
A |
T |
3: 65,460,948 (GRCm39) |
I646F |
probably damaging |
Het |
Topaz1 |
G |
A |
9: 122,577,480 (GRCm39) |
G130D |
probably damaging |
Het |
Trio |
TACCTTGTTACTGAGCCCTTCTCACCTTCACAGACACCTTGTTACTGAGCCCTTCTCACCTTCACAGATACCTTGTTACTGAGCCCTTCTC |
TACCTTGTTACTGAGCCCTTCTCACCTTCACAGATACCTTGTTACTGAGCCCTTCTC |
15: 27,742,399 (GRCm39) |
|
probably benign |
Het |
Ttll7 |
C |
T |
3: 146,619,051 (GRCm39) |
P319S |
possibly damaging |
Het |
Umodl1 |
T |
A |
17: 31,201,318 (GRCm39) |
F416I |
possibly damaging |
Het |
Vmn2r104 |
T |
C |
17: 20,261,088 (GRCm39) |
D445G |
probably benign |
Het |
Wnk2 |
A |
G |
13: 49,235,462 (GRCm39) |
V651A |
possibly damaging |
Het |
Zbtb21 |
C |
T |
16: 97,751,112 (GRCm39) |
S1057N |
probably damaging |
Het |
Zfp451 |
A |
T |
1: 33,815,950 (GRCm39) |
C667S |
probably damaging |
Het |
|
Other mutations in Aknad1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00697:Aknad1
|
APN |
3 |
108,682,324 (GRCm39) |
missense |
probably damaging |
0.96 |
IGL01734:Aknad1
|
APN |
3 |
108,659,217 (GRCm39) |
missense |
probably benign |
0.05 |
IGL01877:Aknad1
|
APN |
3 |
108,682,406 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL01964:Aknad1
|
APN |
3 |
108,685,593 (GRCm39) |
missense |
probably benign |
|
IGL03091:Aknad1
|
APN |
3 |
108,659,219 (GRCm39) |
missense |
possibly damaging |
0.76 |
IGL03172:Aknad1
|
APN |
3 |
108,688,519 (GRCm39) |
missense |
possibly damaging |
0.53 |
R0023:Aknad1
|
UTSW |
3 |
108,688,501 (GRCm39) |
missense |
probably benign |
0.00 |
R0023:Aknad1
|
UTSW |
3 |
108,688,501 (GRCm39) |
missense |
probably benign |
0.00 |
R0238:Aknad1
|
UTSW |
3 |
108,688,555 (GRCm39) |
missense |
probably benign |
|
R0238:Aknad1
|
UTSW |
3 |
108,688,555 (GRCm39) |
missense |
probably benign |
|
R0294:Aknad1
|
UTSW |
3 |
108,682,508 (GRCm39) |
missense |
probably damaging |
0.99 |
R0931:Aknad1
|
UTSW |
3 |
108,659,339 (GRCm39) |
missense |
probably damaging |
1.00 |
R1147:Aknad1
|
UTSW |
3 |
108,659,857 (GRCm39) |
missense |
possibly damaging |
0.89 |
R1147:Aknad1
|
UTSW |
3 |
108,659,857 (GRCm39) |
missense |
possibly damaging |
0.89 |
R1179:Aknad1
|
UTSW |
3 |
108,659,783 (GRCm39) |
missense |
possibly damaging |
0.78 |
R1579:Aknad1
|
UTSW |
3 |
108,659,452 (GRCm39) |
nonsense |
probably null |
|
R1746:Aknad1
|
UTSW |
3 |
108,659,099 (GRCm39) |
missense |
possibly damaging |
0.48 |
R2205:Aknad1
|
UTSW |
3 |
108,664,609 (GRCm39) |
missense |
probably damaging |
1.00 |
R2316:Aknad1
|
UTSW |
3 |
108,688,472 (GRCm39) |
missense |
probably damaging |
0.98 |
R2519:Aknad1
|
UTSW |
3 |
108,663,784 (GRCm39) |
missense |
probably damaging |
0.97 |
R3087:Aknad1
|
UTSW |
3 |
108,664,179 (GRCm39) |
nonsense |
probably null |
|
R4007:Aknad1
|
UTSW |
3 |
108,682,598 (GRCm39) |
missense |
probably benign |
0.33 |
R4716:Aknad1
|
UTSW |
3 |
108,682,417 (GRCm39) |
critical splice donor site |
probably null |
|
R4762:Aknad1
|
UTSW |
3 |
108,682,547 (GRCm39) |
missense |
possibly damaging |
0.86 |
R4852:Aknad1
|
UTSW |
3 |
108,659,056 (GRCm39) |
missense |
probably damaging |
0.99 |
R4910:Aknad1
|
UTSW |
3 |
108,688,568 (GRCm39) |
critical splice donor site |
probably null |
|
R5191:Aknad1
|
UTSW |
3 |
108,659,867 (GRCm39) |
missense |
probably benign |
0.11 |
R5191:Aknad1
|
UTSW |
3 |
108,659,306 (GRCm39) |
missense |
probably benign |
0.04 |
R5918:Aknad1
|
UTSW |
3 |
108,659,703 (GRCm39) |
missense |
probably benign |
0.00 |
R6246:Aknad1
|
UTSW |
3 |
108,659,148 (GRCm39) |
missense |
probably damaging |
1.00 |
R6730:Aknad1
|
UTSW |
3 |
108,659,655 (GRCm39) |
missense |
possibly damaging |
0.95 |
R7641:Aknad1
|
UTSW |
3 |
108,679,291 (GRCm39) |
missense |
probably benign |
0.41 |
R8181:Aknad1
|
UTSW |
3 |
108,659,328 (GRCm39) |
missense |
possibly damaging |
0.91 |
R8377:Aknad1
|
UTSW |
3 |
108,689,255 (GRCm39) |
missense |
possibly damaging |
0.53 |
R8430:Aknad1
|
UTSW |
3 |
108,659,037 (GRCm39) |
missense |
possibly damaging |
0.95 |
R8735:Aknad1
|
UTSW |
3 |
108,682,615 (GRCm39) |
splice site |
probably benign |
|
R9191:Aknad1
|
UTSW |
3 |
108,664,093 (GRCm39) |
missense |
probably damaging |
1.00 |
R9250:Aknad1
|
UTSW |
3 |
108,664,143 (GRCm39) |
missense |
probably damaging |
1.00 |
X0023:Aknad1
|
UTSW |
3 |
108,659,493 (GRCm39) |
missense |
possibly damaging |
0.47 |
|
Predicted Primers |
PCR Primer
(F):5'- AGTCTGTGAGGAAGACCCAC -3'
(R):5'- TCTAACTTCAGAGCCTCCATGG -3'
Sequencing Primer
(F):5'- CCAAAAGGTGAGATGGCTTGACTC -3'
(R):5'- TCCATGGCACCGATAGCAGTC -3'
|
Posted On |
2019-05-15 |