Incidental Mutation 'IGL02956:Akna'
| ID |
365138 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Akna
|
| Ensembl Gene |
ENSMUSG00000039158 |
| Gene Name |
AT-hook transcription factor |
| Synonyms |
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.081)
|
| Stock # |
IGL02956
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
4 |
| Chromosomal Location |
63285362-63321591 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 63304516 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Lysine
at position 546
(T546K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000041614
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000035724]
|
| AlphaFold |
Q80VW7 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000035724
AA Change: T546K
PolyPhen 2
Score 0.053 (Sensitivity: 0.94; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000041614
Gene: ENSMUSG00000039158
AA Change: T546K
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
140 |
153 |
N/A |
INTRINSIC |
|
coiled coil region
|
423 |
458 |
N/A |
INTRINSIC |
|
Pfam:AKNA
|
584 |
681 |
4.6e-37 |
PFAM |
|
low complexity region
|
760 |
774 |
N/A |
INTRINSIC |
|
low complexity region
|
1015 |
1029 |
N/A |
INTRINSIC |
|
coiled coil region
|
1044 |
1066 |
N/A |
INTRINSIC |
|
low complexity region
|
1296 |
1317 |
N/A |
INTRINSIC |
|
low complexity region
|
1319 |
1343 |
N/A |
INTRINSIC |
|
coiled coil region
|
1353 |
1386 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000144095
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
PHENOTYPE: Mice homozygous for a hypomorphic or a knock-out allele exhibit partial postnatal lethality, pathogen-induced acute neutrophil responses leading to systemic inflammation and alveolar destruction, and increased susceptibility to fungal infection. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 46 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adamts13 |
C |
T |
2: 26,873,049 (GRCm39) |
A339V |
probably benign |
Het |
| Adck2 |
T |
C |
6: 39,553,436 (GRCm39) |
V349A |
probably benign |
Het |
| Albfm1 |
A |
G |
5: 90,727,497 (GRCm39) |
I372V |
possibly damaging |
Het |
| Ankrd29 |
T |
C |
18: 12,393,993 (GRCm39) |
K274E |
probably damaging |
Het |
| Apc2 |
A |
T |
10: 80,142,209 (GRCm39) |
N376I |
probably damaging |
Het |
| Cadps |
A |
G |
14: 12,418,047 (GRCm38) |
|
probably benign |
Het |
| Cbl |
T |
C |
9: 44,080,331 (GRCm39) |
T243A |
probably damaging |
Het |
| Cep15 |
A |
G |
14: 12,287,326 (GRCm38) |
N29S |
probably benign |
Het |
| Cfap52 |
T |
C |
11: 67,844,901 (GRCm39) |
E56G |
probably benign |
Het |
| Chd5 |
C |
A |
4: 152,464,413 (GRCm39) |
P1561Q |
probably benign |
Het |
| Dscam |
A |
G |
16: 96,602,472 (GRCm39) |
S657P |
probably damaging |
Het |
| Ece1 |
T |
C |
4: 137,690,149 (GRCm39) |
F732L |
probably damaging |
Het |
| Eno2 |
T |
C |
6: 124,740,082 (GRCm39) |
D199G |
probably damaging |
Het |
| Enpp3 |
A |
G |
10: 24,650,841 (GRCm39) |
|
probably benign |
Het |
| Fbxl15 |
G |
T |
19: 46,317,690 (GRCm39) |
C124F |
probably damaging |
Het |
| Fermt3 |
T |
C |
19: 6,979,712 (GRCm39) |
S474G |
probably benign |
Het |
| Fkbp6 |
T |
C |
5: 135,368,350 (GRCm39) |
E252G |
probably damaging |
Het |
| Gm6625 |
A |
T |
8: 89,873,667 (GRCm39) |
|
noncoding transcript |
Het |
| Gnl1 |
T |
C |
17: 36,298,504 (GRCm39) |
I416T |
probably benign |
Het |
| Gp1bb |
C |
A |
16: 18,439,675 (GRCm39) |
A140S |
probably benign |
Het |
| Grin2c |
A |
G |
11: 115,148,785 (GRCm39) |
V271A |
possibly damaging |
Het |
| Heatr1 |
T |
A |
13: 12,430,940 (GRCm39) |
S1012T |
possibly damaging |
Het |
| Ighv5-6 |
T |
A |
12: 113,589,523 (GRCm39) |
|
probably benign |
Het |
| Itga10 |
A |
G |
3: 96,562,429 (GRCm39) |
E737G |
possibly damaging |
Het |
| Lmod2 |
A |
C |
6: 24,603,631 (GRCm39) |
N202T |
probably damaging |
Het |
| Lrp1 |
C |
T |
10: 127,380,428 (GRCm39) |
V3908I |
probably benign |
Het |
| Lrrtm4 |
T |
C |
6: 79,998,633 (GRCm39) |
V15A |
probably benign |
Het |
| Mup4 |
A |
T |
4: 59,959,263 (GRCm39) |
D77E |
probably benign |
Het |
| Myh7b |
A |
T |
2: 155,474,823 (GRCm39) |
E1787V |
probably damaging |
Het |
| Myh7b |
T |
A |
2: 155,467,874 (GRCm39) |
M804K |
possibly damaging |
Het |
| Nup133 |
T |
C |
8: 124,675,822 (GRCm39) |
S32G |
probably benign |
Het |
| Or13c7d |
T |
A |
4: 43,770,399 (GRCm39) |
N204I |
probably benign |
Het |
| Or52h1 |
T |
C |
7: 103,829,334 (GRCm39) |
I94V |
probably damaging |
Het |
| Or7d10 |
T |
C |
9: 19,832,348 (GRCm39) |
V281A |
possibly damaging |
Het |
| Or8b8 |
A |
G |
9: 37,809,404 (GRCm39) |
K235E |
probably damaging |
Het |
| Polr2m |
T |
C |
9: 71,390,911 (GRCm39) |
D97G |
possibly damaging |
Het |
| Pou2f3 |
A |
G |
9: 43,054,100 (GRCm39) |
|
probably benign |
Het |
| Rex1bd |
C |
A |
8: 70,958,552 (GRCm39) |
V72F |
possibly damaging |
Het |
| Rgp1 |
A |
G |
4: 43,581,505 (GRCm39) |
T261A |
possibly damaging |
Het |
| Satb2 |
A |
G |
1: 56,987,334 (GRCm39) |
F84L |
probably damaging |
Het |
| Sec14l1 |
G |
A |
11: 117,043,973 (GRCm39) |
D494N |
probably benign |
Het |
| Spn |
G |
A |
7: 126,736,432 (GRCm39) |
T25M |
probably damaging |
Het |
| Trp73 |
G |
A |
4: 154,148,920 (GRCm39) |
|
probably benign |
Het |
| Tsc22d2 |
A |
G |
3: 58,324,967 (GRCm39) |
T620A |
unknown |
Het |
| Zfp276 |
T |
C |
8: 123,981,483 (GRCm39) |
L10P |
probably damaging |
Het |
| Zfp93 |
T |
A |
7: 23,974,400 (GRCm39) |
N128K |
probably benign |
Het |
|
| Other mutations in Akna |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00533:Akna
|
APN |
4 |
63,316,110 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL00590:Akna
|
APN |
4 |
63,290,115 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL01567:Akna
|
APN |
4 |
63,300,087 (GRCm39) |
missense |
probably benign |
|
|
IGL01667:Akna
|
APN |
4 |
63,297,396 (GRCm39) |
missense |
probably benign |
0.34 |
|
IGL01820:Akna
|
APN |
4 |
63,304,495 (GRCm39) |
missense |
probably benign |
0.30 |
|
IGL01956:Akna
|
APN |
4 |
63,297,527 (GRCm39) |
missense |
probably benign |
0.04 |
|
IGL02148:Akna
|
APN |
4 |
63,300,716 (GRCm39) |
splice site |
probably benign |
|
|
IGL02502:Akna
|
APN |
4 |
63,286,440 (GRCm39) |
missense |
probably benign |
0.28 |
|
IGL02674:Akna
|
APN |
4 |
63,289,181 (GRCm39) |
nonsense |
probably null |
|
|
IGL02792:Akna
|
APN |
4 |
63,295,943 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
R0035:Akna
|
UTSW |
4 |
63,300,682 (GRCm39) |
missense |
probably benign |
0.16 |
|
R0049:Akna
|
UTSW |
4 |
63,312,872 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R0133:Akna
|
UTSW |
4 |
63,297,598 (GRCm39) |
nonsense |
probably null |
|
|
R0396:Akna
|
UTSW |
4 |
63,310,363 (GRCm39) |
splice site |
probably benign |
|
|
R0422:Akna
|
UTSW |
4 |
63,310,391 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0578:Akna
|
UTSW |
4 |
63,289,147 (GRCm39) |
missense |
probably benign |
|
|
R0784:Akna
|
UTSW |
4 |
63,295,125 (GRCm39) |
missense |
probably benign |
|
|
R1264:Akna
|
UTSW |
4 |
63,299,962 (GRCm39) |
splice site |
probably null |
|
|
R1539:Akna
|
UTSW |
4 |
63,297,547 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1575:Akna
|
UTSW |
4 |
63,297,570 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1646:Akna
|
UTSW |
4 |
63,302,129 (GRCm39) |
missense |
probably benign |
|
|
R2115:Akna
|
UTSW |
4 |
63,313,397 (GRCm39) |
missense |
probably benign |
0.01 |
|
R2121:Akna
|
UTSW |
4 |
63,295,137 (GRCm39) |
missense |
probably benign |
0.08 |
|
R2324:Akna
|
UTSW |
4 |
63,290,039 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R2961:Akna
|
UTSW |
4 |
63,313,181 (GRCm39) |
missense |
probably benign |
0.04 |
|
R3150:Akna
|
UTSW |
4 |
63,313,590 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R3552:Akna
|
UTSW |
4 |
63,316,361 (GRCm39) |
start codon destroyed |
probably null |
0.53 |
|
R3855:Akna
|
UTSW |
4 |
63,291,705 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R4023:Akna
|
UTSW |
4 |
63,292,627 (GRCm39) |
missense |
probably benign |
|
|
R4247:Akna
|
UTSW |
4 |
63,313,409 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4299:Akna
|
UTSW |
4 |
63,316,269 (GRCm39) |
missense |
possibly damaging |
0.59 |
|
R4422:Akna
|
UTSW |
4 |
63,305,330 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R4499:Akna
|
UTSW |
4 |
63,313,278 (GRCm39) |
missense |
probably benign |
|
|
R4723:Akna
|
UTSW |
4 |
63,305,269 (GRCm39) |
missense |
probably benign |
|
|
R4743:Akna
|
UTSW |
4 |
63,296,850 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4780:Akna
|
UTSW |
4 |
63,297,491 (GRCm39) |
missense |
probably benign |
|
|
R4903:Akna
|
UTSW |
4 |
63,292,274 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4936:Akna
|
UTSW |
4 |
63,313,502 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R5041:Akna
|
UTSW |
4 |
63,305,381 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
R5276:Akna
|
UTSW |
4 |
63,286,440 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R5297:Akna
|
UTSW |
4 |
63,300,083 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R5546:Akna
|
UTSW |
4 |
63,313,803 (GRCm39) |
missense |
probably benign |
|
|
R5546:Akna
|
UTSW |
4 |
63,313,196 (GRCm39) |
missense |
probably benign |
0.15 |
|
R5773:Akna
|
UTSW |
4 |
63,313,307 (GRCm39) |
missense |
probably benign |
0.41 |
|
R5966:Akna
|
UTSW |
4 |
63,313,140 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6127:Akna
|
UTSW |
4 |
63,286,356 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
R6176:Akna
|
UTSW |
4 |
63,295,969 (GRCm39) |
missense |
probably benign |
0.04 |
|
R6337:Akna
|
UTSW |
4 |
63,292,240 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6701:Akna
|
UTSW |
4 |
63,313,517 (GRCm39) |
missense |
probably benign |
|
|
R6800:Akna
|
UTSW |
4 |
63,316,268 (GRCm39) |
missense |
probably benign |
|
|
R6931:Akna
|
UTSW |
4 |
63,305,339 (GRCm39) |
missense |
probably benign |
0.02 |
|
R7451:Akna
|
UTSW |
4 |
63,296,904 (GRCm39) |
missense |
probably benign |
0.16 |
|
R7644:Akna
|
UTSW |
4 |
63,313,634 (GRCm39) |
missense |
possibly damaging |
0.48 |
|
R7786:Akna
|
UTSW |
4 |
63,313,199 (GRCm39) |
missense |
probably benign |
|
|
R8182:Akna
|
UTSW |
4 |
63,313,034 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9136:Akna
|
UTSW |
4 |
63,310,392 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9178:Akna
|
UTSW |
4 |
63,312,846 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R9563:Akna
|
UTSW |
4 |
63,312,944 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9687:Akna
|
UTSW |
4 |
63,292,674 (GRCm39) |
nonsense |
probably null |
|
|
R9768:Akna
|
UTSW |
4 |
63,292,636 (GRCm39) |
missense |
probably benign |
|
|
RF048:Akna
|
UTSW |
4 |
63,296,078 (GRCm39) |
small deletion |
probably benign |
|
|
| Posted On |
2015-12-18 |
Incidental Mutation