Incidental Mutation 'IGL01964:Aknad1'
| ID |
181508 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Aknad1
|
| Ensembl Gene |
ENSMUSG00000049565 |
| Gene Name |
AKNA domain containing 1 |
| Synonyms |
4921525H12Rik |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.067)
|
| Stock # |
IGL01964
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
3 |
| Chromosomal Location |
108646974-108689625 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 108685593 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 579
(V579A)
|
| 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 benign
Transcript: ENSMUST00000133931
AA Change: V579A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000121755
Gene: ENSMUSG00000049565
AA Change: V579A
| 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: ENSMUST00000147916
|
| Coding Region Coverage |
|
| 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: 27 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam34l |
A |
C |
8: 44,079,798 (GRCm39) |
I142S |
probably benign |
Het |
| Ankrd11 |
A |
G |
8: 123,616,475 (GRCm39) |
I2438T |
probably damaging |
Het |
| Cdh11 |
A |
G |
8: 103,391,375 (GRCm39) |
V287A |
probably benign |
Het |
| Cdyl2 |
G |
A |
8: 117,350,768 (GRCm39) |
S121L |
probably benign |
Het |
| Cyp2e1 |
A |
T |
7: 140,343,779 (GRCm39) |
I6F |
probably damaging |
Het |
| Cyp3a16 |
A |
T |
5: 145,392,372 (GRCm39) |
D194E |
probably benign |
Het |
| Eapp |
G |
T |
12: 54,732,720 (GRCm39) |
P126Q |
probably damaging |
Het |
| Efr3b |
A |
T |
12: 4,032,928 (GRCm39) |
L143Q |
probably damaging |
Het |
| Grin2c |
C |
T |
11: 115,144,673 (GRCm39) |
E618K |
probably damaging |
Het |
| Haus3 |
A |
T |
5: 34,323,405 (GRCm39) |
Y402N |
probably benign |
Het |
| Iffo1 |
A |
G |
6: 125,128,364 (GRCm39) |
D316G |
probably damaging |
Het |
| Kctd19 |
A |
T |
8: 106,115,157 (GRCm39) |
M468K |
probably damaging |
Het |
| Kdm4b |
T |
A |
17: 56,696,256 (GRCm39) |
|
probably null |
Het |
| Naip6 |
T |
A |
13: 100,435,238 (GRCm39) |
|
probably benign |
Het |
| Or5k15 |
A |
T |
16: 58,709,827 (GRCm39) |
I252K |
probably damaging |
Het |
| Polr3c |
T |
C |
3: 96,619,291 (GRCm39) |
|
probably benign |
Het |
| Poteg |
A |
T |
8: 27,938,036 (GRCm39) |
E60V |
probably damaging |
Het |
| Rnd2 |
T |
C |
11: 101,361,632 (GRCm39) |
|
probably null |
Het |
| Rufy3 |
A |
G |
5: 88,762,929 (GRCm39) |
Q153R |
probably damaging |
Het |
| Shank1 |
T |
A |
7: 43,975,102 (GRCm39) |
I399N |
unknown |
Het |
| Sin3a |
T |
C |
9: 57,014,631 (GRCm39) |
|
probably benign |
Het |
| Sppl2b |
T |
A |
10: 80,701,220 (GRCm39) |
|
probably null |
Het |
| Srgap1 |
G |
A |
10: 121,640,871 (GRCm39) |
P665L |
possibly damaging |
Het |
| Srgap2 |
G |
T |
1: 131,217,316 (GRCm39) |
Q999K |
probably benign |
Het |
| Tbxas1 |
G |
A |
6: 39,060,748 (GRCm39) |
V496I |
probably benign |
Het |
| Vmn1r198 |
A |
G |
13: 22,538,576 (GRCm39) |
M21V |
probably benign |
Het |
| Wdr90 |
T |
C |
17: 26,067,383 (GRCm39) |
I1479V |
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 |
|
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 |
|
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 |
|
| Posted On |
2014-05-07 |
Incidental Mutation