Incidental Mutation 'R1179:Aknad1'
ID |
100210 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Aknad1
|
Ensembl Gene |
ENSMUSG00000049565 |
Gene Name |
AKNA domain containing 1 |
Synonyms |
4921525H12Rik |
MMRRC Submission |
039251-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.060)
|
Stock # |
R1179 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
3 |
Chromosomal Location |
108646974-108689625 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 108659783 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Proline
at position 266
(S266P)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000121755
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000123556]
[ENSMUST00000133931]
|
AlphaFold |
E9Q8N6 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000123556
AA Change: S266P
PolyPhen 2
Score 0.777 (Sensitivity: 0.85; Specificity: 0.92)
|
SMART Domains |
Protein: ENSMUSP00000125068 Gene: ENSMUSG00000049565 AA Change: S266P
Domain | Start | End | E-Value | Type |
Pfam:AKNA
|
322 |
414 |
3.4e-44 |
PFAM |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000133931
AA Change: S266P
PolyPhen 2
Score 0.777 (Sensitivity: 0.85; Specificity: 0.92)
|
SMART Domains |
Protein: ENSMUSP00000121755 Gene: ENSMUSG00000049565 AA Change: S266P
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
|
Coding Region Coverage |
- 1x: 98.8%
- 3x: 97.5%
- 10x: 93.7%
- 20x: 84.3%
|
Validation Efficiency |
|
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: 26 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adcy1 |
T |
A |
11: 7,117,054 (GRCm39) |
|
probably null |
Het |
Gaa |
A |
T |
11: 119,171,954 (GRCm39) |
R686W |
probably damaging |
Het |
Gls2 |
A |
T |
10: 128,035,103 (GRCm39) |
T79S |
probably damaging |
Het |
Golga2 |
G |
T |
2: 32,193,707 (GRCm39) |
R511L |
possibly damaging |
Het |
Hrnr |
T |
C |
3: 93,239,850 (GRCm39) |
S3363P |
unknown |
Het |
Ift81 |
T |
C |
5: 122,740,773 (GRCm39) |
K187R |
probably benign |
Het |
Kcnj1 |
T |
A |
9: 32,308,062 (GRCm39) |
I162N |
probably damaging |
Het |
Ltbp1 |
A |
G |
17: 75,532,280 (GRCm39) |
Q118R |
possibly damaging |
Het |
Mc5r |
C |
G |
18: 68,471,741 (GRCm39) |
|
probably null |
Het |
Naga |
T |
A |
15: 82,214,357 (GRCm39) |
N385Y |
probably benign |
Het |
Naip5 |
T |
A |
13: 100,356,338 (GRCm39) |
E1092D |
probably benign |
Het |
Nrbp1 |
T |
A |
5: 31,403,157 (GRCm39) |
I210N |
probably damaging |
Het |
Nrip3 |
A |
G |
7: 109,362,762 (GRCm39) |
V163A |
probably damaging |
Het |
Or6c202 |
A |
C |
10: 128,995,927 (GRCm39) |
S309A |
probably benign |
Het |
Or8g55 |
T |
C |
9: 39,785,371 (GRCm39) |
S267P |
possibly damaging |
Het |
Pacsin3 |
A |
G |
2: 91,094,205 (GRCm39) |
E378G |
probably damaging |
Het |
Pnisr |
A |
G |
4: 21,865,937 (GRCm39) |
T309A |
possibly damaging |
Het |
Rad54l |
A |
T |
4: 115,968,517 (GRCm39) |
L93Q |
probably benign |
Het |
Ralgps2 |
G |
T |
1: 156,729,369 (GRCm39) |
P50Q |
probably damaging |
Het |
Stab2 |
A |
G |
10: 86,786,165 (GRCm39) |
V594A |
probably damaging |
Het |
Tenm2 |
C |
T |
11: 35,954,004 (GRCm39) |
G1236R |
possibly damaging |
Het |
Tmem17 |
A |
T |
11: 22,468,454 (GRCm39) |
N131I |
probably damaging |
Het |
Trrap |
G |
A |
5: 144,714,749 (GRCm39) |
R107H |
possibly damaging |
Het |
Vmp1 |
T |
C |
11: 86,498,055 (GRCm39) |
T287A |
probably damaging |
Het |
Zfp423 |
T |
A |
8: 88,414,700 (GRCm39) |
H1185L |
probably damaging |
Het |
Zfp773 |
AGCTGCTGCTGCTGCTGCTGCTGCTGC |
AGCTGCTGCTGCTGCTGCTGCTGC |
7: 7,136,092 (GRCm39) |
|
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 |
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 |
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 |
|
Posted On |
2014-01-15 |