Incidental Mutation 'R0931:Aknad1'
ID |
80863 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Aknad1
|
Ensembl Gene |
ENSMUSG00000049565 |
Gene Name |
AKNA domain containing 1 |
Synonyms |
4921525H12Rik |
MMRRC Submission |
039075-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.060)
|
Stock # |
R0931 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
3 |
Chromosomal Location |
108646974-108689625 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 108659339 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Proline
at position 118
(S118P)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000125068
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000123556]
[ENSMUST00000133931]
|
AlphaFold |
E9Q8N6 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000123556
AA Change: S118P
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000125068 Gene: ENSMUSG00000049565 AA Change: S118P
Domain | Start | End | E-Value | Type |
Pfam:AKNA
|
322 |
414 |
3.4e-44 |
PFAM |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000133931
AA Change: S118P
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000121755 Gene: ENSMUSG00000049565 AA Change: S118P
Domain | Start | End | E-Value | Type |
Pfam:AKNA
|
322 |
415 |
2.5e-35 |
PFAM |
low complexity region
|
557 |
572 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000150998
|
Meta Mutation Damage Score |
0.2053 |
Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.9%
- 10x: 97.7%
- 20x: 96.0%
|
Validation Efficiency |
100% (42/42) |
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: 40 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adamtsl1 |
G |
A |
4: 86,168,084 (GRCm39) |
A476T |
probably benign |
Het |
Ajm1 |
T |
C |
2: 25,468,501 (GRCm39) |
E470G |
possibly damaging |
Het |
Arhgap20 |
A |
G |
9: 51,728,041 (GRCm39) |
T85A |
probably benign |
Het |
Astn2 |
A |
G |
4: 65,566,530 (GRCm39) |
L824P |
probably damaging |
Het |
Ccr1 |
C |
A |
9: 123,763,827 (GRCm39) |
K234N |
probably damaging |
Het |
Cfap46 |
T |
C |
7: 139,235,757 (GRCm39) |
R203G |
probably damaging |
Het |
Col8a1 |
A |
G |
16: 57,448,931 (GRCm39) |
I193T |
unknown |
Het |
Cpa2 |
T |
C |
6: 30,552,070 (GRCm39) |
|
probably benign |
Het |
Crabp1 |
T |
C |
9: 54,675,717 (GRCm39) |
L100P |
possibly damaging |
Het |
Cspp1 |
A |
T |
1: 10,174,511 (GRCm39) |
R655W |
probably damaging |
Het |
Ddx1 |
A |
T |
12: 13,287,818 (GRCm39) |
|
probably benign |
Het |
Dnah7b |
T |
G |
1: 46,138,772 (GRCm39) |
|
probably benign |
Het |
Dzip3 |
A |
G |
16: 48,771,921 (GRCm39) |
S583P |
probably damaging |
Het |
Exosc1 |
A |
G |
19: 41,921,676 (GRCm39) |
|
probably benign |
Het |
Fhip1a |
A |
G |
3: 85,580,550 (GRCm39) |
S552P |
probably benign |
Het |
Gas7 |
A |
T |
11: 67,543,751 (GRCm39) |
|
probably benign |
Het |
Gss |
A |
T |
2: 155,409,609 (GRCm39) |
|
probably benign |
Het |
Hdhd3 |
G |
A |
4: 62,417,757 (GRCm39) |
R140* |
probably null |
Het |
Irx2 |
T |
A |
13: 72,779,675 (GRCm39) |
S320T |
possibly damaging |
Het |
Kcnf1 |
T |
C |
12: 17,225,142 (GRCm39) |
S360G |
possibly damaging |
Het |
Klk1b4 |
T |
C |
7: 43,860,480 (GRCm39) |
L166P |
probably damaging |
Het |
Klri1 |
A |
T |
6: 129,674,381 (GRCm39) |
|
probably benign |
Het |
Mettl27 |
T |
C |
5: 134,963,285 (GRCm39) |
|
probably benign |
Het |
Myrfl |
T |
A |
10: 116,675,354 (GRCm39) |
H193L |
probably benign |
Het |
Nbas |
C |
T |
12: 13,381,115 (GRCm39) |
|
probably benign |
Het |
Or10ac1 |
C |
A |
6: 42,515,020 (GRCm39) |
R312L |
probably benign |
Het |
Or52b2 |
A |
T |
7: 104,986,736 (GRCm39) |
Y62* |
probably null |
Het |
Papolg |
A |
G |
11: 23,832,257 (GRCm39) |
I177T |
probably damaging |
Het |
Pdcd1 |
A |
G |
1: 93,967,238 (GRCm39) |
V220A |
probably benign |
Het |
Psmc1 |
T |
C |
12: 100,085,341 (GRCm39) |
L234P |
probably damaging |
Het |
Rasa2 |
A |
T |
9: 96,434,457 (GRCm39) |
M610K |
possibly damaging |
Het |
Ryr3 |
A |
G |
2: 112,484,047 (GRCm39) |
F3930S |
probably damaging |
Het |
Sacs |
G |
A |
14: 61,440,944 (GRCm39) |
V997I |
probably benign |
Het |
Setdb2 |
A |
G |
14: 59,660,945 (GRCm39) |
|
probably benign |
Het |
Ssu2 |
C |
A |
6: 112,361,359 (GRCm39) |
L32F |
probably damaging |
Het |
Taar1 |
A |
T |
10: 23,797,181 (GRCm39) |
N293I |
probably damaging |
Het |
Ttn |
A |
G |
2: 76,611,846 (GRCm39) |
|
probably benign |
Het |
Vmn2r49 |
T |
C |
7: 9,720,325 (GRCm39) |
M389V |
possibly damaging |
Het |
Wdr7 |
T |
C |
18: 63,998,371 (GRCm39) |
V1106A |
probably benign |
Het |
Zfp324 |
A |
G |
7: 12,700,185 (GRCm39) |
I15V |
probably benign |
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 |
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 |
R7123:Aknad1
|
UTSW |
3 |
108,682,560 (GRCm39) |
nonsense |
probably null |
|
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'- CAACAGGAGGACCTGCCTTATGATG -3'
(R):5'- AACCATTTTGGGGACTGGGCTG -3'
Sequencing Primer
(F):5'- TCTCCCAGATGAAGATGTGC -3'
(R):5'- CTGAGCCTTCAAGACTGTCA -3'
|
Posted On |
2013-11-07 |