Incidental Mutation 'R2316:Aknad1'
| ID |
245478 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Aknad1
|
| Ensembl Gene |
ENSMUSG00000049565 |
| Gene Name |
AKNA domain containing 1 |
| Synonyms |
4921525H12Rik |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.060)
|
| Stock # |
R2316 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
3 |
| Chromosomal Location |
108646974-108689625 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 108688472 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Valine
at position 600
(D600V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000121755
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000133931]
|
| AlphaFold |
E9Q8N6 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000133931
AA Change: D600V
PolyPhen 2
Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000121755
Gene: ENSMUSG00000049565
AA Change: D600V
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:AKNA
|
322 |
415 |
2.5e-35 |
PFAM |
|
low complexity region
|
557 |
572 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 94.9%
|
| 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: 37 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930563I02Rik |
A |
G |
14: 60,333,519 (GRCm39) |
|
probably benign |
Het |
| Acaca |
T |
C |
11: 84,154,906 (GRCm39) |
M987T |
probably benign |
Het |
| Acaca |
A |
G |
11: 84,185,809 (GRCm39) |
T115A |
possibly damaging |
Het |
| Arfgef3 |
T |
A |
10: 18,492,701 (GRCm39) |
T1237S |
probably benign |
Het |
| Brd4 |
A |
T |
17: 32,431,884 (GRCm39) |
L660Q |
probably benign |
Het |
| Casp1 |
A |
G |
9: 5,306,213 (GRCm39) |
D366G |
possibly damaging |
Het |
| Casp8ap2 |
C |
A |
4: 32,643,781 (GRCm39) |
S951R |
probably benign |
Het |
| Chd9 |
A |
G |
8: 91,777,756 (GRCm39) |
E2589G |
probably damaging |
Het |
| Dchs1 |
T |
C |
7: 105,413,411 (GRCm39) |
T1135A |
possibly damaging |
Het |
| Dnhd1 |
T |
C |
7: 105,323,628 (GRCm39) |
V633A |
probably damaging |
Het |
| Dock6 |
G |
T |
9: 21,750,973 (GRCm39) |
H400Q |
probably damaging |
Het |
| Dzip1 |
A |
G |
14: 119,138,952 (GRCm39) |
F426L |
probably benign |
Het |
| Elovl4 |
A |
G |
9: 83,662,826 (GRCm39) |
S236P |
probably damaging |
Het |
| Emp1 |
T |
C |
6: 135,357,123 (GRCm39) |
F67S |
probably damaging |
Het |
| Garnl3 |
A |
G |
2: 32,895,164 (GRCm39) |
L635P |
probably damaging |
Het |
| Htr7 |
C |
A |
19: 35,946,703 (GRCm39) |
|
probably null |
Het |
| Kcnd3 |
A |
C |
3: 105,576,442 (GRCm39) |
S629R |
probably benign |
Het |
| Lrp2 |
T |
A |
2: 69,322,191 (GRCm39) |
I1913F |
possibly damaging |
Het |
| Med19 |
T |
A |
2: 84,516,587 (GRCm39) |
D208E |
probably benign |
Het |
| Mettl21c |
A |
T |
1: 44,052,792 (GRCm39) |
V75E |
probably damaging |
Het |
| Nhsl3 |
T |
C |
4: 129,117,540 (GRCm39) |
T375A |
probably damaging |
Het |
| Nsd1 |
A |
T |
13: 55,381,779 (GRCm39) |
R64S |
probably damaging |
Het |
| Or10g3b |
A |
G |
14: 52,587,395 (GRCm39) |
I36T |
probably benign |
Het |
| Or51v8 |
A |
T |
7: 103,319,674 (GRCm39) |
I188N |
probably damaging |
Het |
| Or5p50 |
T |
A |
7: 107,422,007 (GRCm39) |
Y223F |
probably benign |
Het |
| Peds1 |
T |
A |
2: 167,496,635 (GRCm39) |
Q46L |
possibly damaging |
Het |
| Plat |
T |
A |
8: 23,266,881 (GRCm39) |
M291K |
probably benign |
Het |
| Psmb4 |
T |
C |
3: 94,792,322 (GRCm39) |
E200G |
probably benign |
Het |
| Reln |
T |
C |
5: 22,359,954 (GRCm39) |
Y190C |
probably benign |
Het |
| Rp1 |
A |
G |
1: 4,415,863 (GRCm39) |
S1750P |
probably damaging |
Het |
| Slc5a4a |
T |
A |
10: 76,013,915 (GRCm39) |
|
probably null |
Het |
| Sobp |
A |
T |
10: 43,034,034 (GRCm39) |
N97K |
possibly damaging |
Het |
| Stac3 |
T |
C |
10: 127,339,229 (GRCm39) |
|
probably null |
Het |
| Stat5b |
G |
T |
11: 100,687,318 (GRCm39) |
T436K |
probably damaging |
Het |
| Tas1r3 |
A |
T |
4: 155,947,772 (GRCm39) |
M7K |
probably benign |
Het |
| Vps13b |
C |
T |
15: 35,675,045 (GRCm39) |
Q1722* |
probably null |
Het |
| Zfp677 |
A |
T |
17: 21,617,582 (GRCm39) |
Y213F |
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 |
|
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 |
|
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'- CTTGAAGCTCAGCTGTGGTC -3'
(R):5'- TGACGGGAAAGCTAGCCATTC -3'
Sequencing Primer
(F):5'- TGTAAAAGGTAGGGTCCCTCAACTAC -3'
(R):5'- GAAAGCTAGCCATTCTGTGC -3'
|
| Posted On |
2014-10-30 |
Incidental Mutation