Incidental Mutation 'IGL03172:Aknad1'
| ID |
411891 |
| 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 # |
IGL03172
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
3 |
| Chromosomal Location |
108646974-108689625 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 108688519 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Phenylalanine
at position 616
(I616F)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000121755
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000133931]
|
| AlphaFold |
E9Q8N6 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000133931
AA Change: I616F
PolyPhen 2
Score 0.533 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000121755
Gene: ENSMUSG00000049565
AA Change: I616F
| 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 |
|
| 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: 44 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 9930111J21Rik1 |
T |
C |
11: 48,839,003 (GRCm39) |
H528R |
probably damaging |
Het |
| A530053G22Rik |
A |
T |
6: 60,379,047 (GRCm39) |
|
noncoding transcript |
Het |
| Aagab |
A |
G |
9: 63,542,676 (GRCm39) |
|
probably benign |
Het |
| Ap2a1 |
A |
C |
7: 44,553,479 (GRCm39) |
D629E |
probably benign |
Het |
| Apc2 |
C |
A |
10: 80,149,220 (GRCm39) |
Q1425K |
probably damaging |
Het |
| Asf1b |
A |
C |
8: 84,694,542 (GRCm39) |
H102P |
probably benign |
Het |
| Celf6 |
C |
T |
9: 59,489,565 (GRCm39) |
A90V |
probably damaging |
Het |
| Chrna2 |
A |
T |
14: 66,379,688 (GRCm39) |
Q9L |
probably benign |
Het |
| Csnk1g3 |
A |
G |
18: 54,086,356 (GRCm39) |
I420M |
possibly damaging |
Het |
| Eml3 |
T |
C |
19: 8,916,543 (GRCm39) |
|
probably benign |
Het |
| Epn3 |
T |
C |
11: 94,382,456 (GRCm39) |
N508S |
possibly damaging |
Het |
| Fam120a |
T |
C |
13: 49,063,812 (GRCm39) |
Y608C |
probably damaging |
Het |
| Fbn1 |
A |
C |
2: 125,162,888 (GRCm39) |
C2133G |
possibly damaging |
Het |
| Fhl5 |
A |
G |
4: 25,211,309 (GRCm39) |
F128L |
probably damaging |
Het |
| Fn1 |
T |
C |
1: 71,680,421 (GRCm39) |
N428S |
probably damaging |
Het |
| Fxr2 |
T |
C |
11: 69,540,665 (GRCm39) |
|
probably null |
Het |
| Gabrp |
T |
C |
11: 33,504,388 (GRCm39) |
Y309C |
probably damaging |
Het |
| Golga2 |
A |
G |
2: 32,182,168 (GRCm39) |
I50V |
probably benign |
Het |
| Ifi203 |
C |
T |
1: 173,764,158 (GRCm39) |
G105R |
possibly damaging |
Het |
| Itgav |
A |
T |
2: 83,596,190 (GRCm39) |
Q201L |
possibly damaging |
Het |
| Jade2 |
T |
C |
11: 51,716,198 (GRCm39) |
T336A |
probably damaging |
Het |
| Kdm4b |
A |
G |
17: 56,708,649 (GRCm39) |
D996G |
probably damaging |
Het |
| Me2 |
A |
G |
18: 73,903,797 (GRCm39) |
I557T |
probably benign |
Het |
| Memo1 |
A |
C |
17: 74,551,996 (GRCm39) |
L100R |
probably damaging |
Het |
| Mrps2 |
A |
G |
2: 28,359,818 (GRCm39) |
N225S |
probably damaging |
Het |
| Ndufa2 |
A |
G |
18: 36,877,278 (GRCm39) |
|
probably null |
Het |
| Or2g7 |
G |
T |
17: 38,378,275 (GRCm39) |
C71F |
probably damaging |
Het |
| Or7g19 |
G |
A |
9: 18,856,757 (GRCm39) |
S271N |
probably benign |
Het |
| Pak5 |
G |
T |
2: 135,940,310 (GRCm39) |
Y501* |
probably null |
Het |
| Pot1b |
A |
T |
17: 56,002,206 (GRCm39) |
F123I |
possibly damaging |
Het |
| Rev3l |
T |
C |
10: 39,700,786 (GRCm39) |
V1761A |
probably benign |
Het |
| Samd3 |
T |
A |
10: 26,106,064 (GRCm39) |
V14E |
probably damaging |
Het |
| Slc4a8 |
G |
A |
15: 100,697,598 (GRCm39) |
A605T |
probably benign |
Het |
| Smgc |
A |
T |
15: 91,744,642 (GRCm39) |
D333V |
probably damaging |
Het |
| Spata4 |
A |
G |
8: 55,055,440 (GRCm39) |
I147V |
probably benign |
Het |
| Ttc23l |
G |
A |
15: 10,537,652 (GRCm39) |
S206L |
probably benign |
Het |
| Vmn2r73 |
G |
A |
7: 85,507,495 (GRCm39) |
H606Y |
probably benign |
Het |
| Vsig8 |
A |
G |
1: 172,387,916 (GRCm39) |
N2S |
probably damaging |
Het |
| Wdr17 |
A |
C |
8: 55,114,515 (GRCm39) |
I667R |
probably damaging |
Het |
| Yif1b |
A |
G |
7: 28,937,873 (GRCm39) |
|
probably null |
Het |
| Zbtb5 |
A |
T |
4: 44,994,003 (GRCm39) |
H460Q |
possibly damaging |
Het |
| Zdhhc21 |
G |
A |
4: 82,724,564 (GRCm39) |
|
probably benign |
Het |
| Zfp944 |
A |
T |
17: 22,559,018 (GRCm39) |
H76Q |
probably damaging |
Het |
| Zkscan1 |
A |
G |
5: 138,092,264 (GRCm39) |
Q146R |
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 |
|
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 |
2016-08-02 |
Incidental Mutation