Incidental Mutation 'IGL01820:Akna'
| ID |
154523 |
| 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 # |
IGL01820
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
4 |
| Chromosomal Location |
63285362-63321591 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 63304495 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Asparagine
at position 553
(T553N)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000041614
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000035724]
|
| AlphaFold |
Q80VW7 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000035724
AA Change: T553N
PolyPhen 2
Score 0.300 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000041614
Gene: ENSMUSG00000039158
AA Change: T553N
| 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: 48 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcb1a |
A |
G |
5: 8,765,896 (GRCm39) |
|
probably benign |
Het |
| Adcy2 |
T |
C |
13: 68,886,664 (GRCm39) |
|
probably null |
Het |
| Boc |
A |
G |
16: 44,312,235 (GRCm39) |
I609T |
possibly damaging |
Het |
| Btbd9 |
C |
T |
17: 30,746,383 (GRCm39) |
V148I |
possibly damaging |
Het |
| Cacna1d |
A |
T |
14: 29,764,823 (GRCm39) |
I2049N |
possibly damaging |
Het |
| Cdhr1 |
A |
T |
14: 36,807,536 (GRCm39) |
M368K |
probably benign |
Het |
| Cftr |
A |
G |
6: 18,226,138 (GRCm39) |
Y362C |
probably damaging |
Het |
| Cnppd1 |
G |
T |
1: 75,116,236 (GRCm39) |
|
probably null |
Het |
| Col3a1 |
T |
C |
1: 45,360,768 (GRCm39) |
I66T |
unknown |
Het |
| Col5a2 |
C |
A |
1: 45,481,985 (GRCm39) |
M46I |
unknown |
Het |
| Csmd3 |
G |
T |
15: 47,470,538 (GRCm39) |
C3379* |
probably null |
Het |
| Ctla2b |
T |
A |
13: 61,044,503 (GRCm39) |
*28C |
probably null |
Het |
| Ddhd2 |
C |
T |
8: 26,239,781 (GRCm39) |
E33K |
possibly damaging |
Het |
| Dock3 |
T |
C |
9: 106,773,092 (GRCm39) |
H387R |
probably damaging |
Het |
| Dyrk1b |
T |
A |
7: 27,881,025 (GRCm39) |
|
probably benign |
Het |
| Fam131c |
T |
C |
4: 141,107,648 (GRCm39) |
C53R |
probably damaging |
Het |
| Fat1 |
T |
A |
8: 45,463,539 (GRCm39) |
F1360L |
probably damaging |
Het |
| Gm10320 |
G |
T |
13: 98,626,045 (GRCm39) |
S113* |
probably null |
Het |
| Ifih1 |
T |
C |
2: 62,447,657 (GRCm39) |
D349G |
probably damaging |
Het |
| Il12a |
T |
C |
3: 68,599,495 (GRCm39) |
|
probably benign |
Het |
| Ivl |
A |
T |
3: 92,478,940 (GRCm39) |
M375K |
possibly damaging |
Het |
| Krt82 |
C |
A |
15: 101,451,887 (GRCm39) |
|
probably benign |
Het |
| Mc4r |
C |
T |
18: 66,992,226 (GRCm39) |
V296I |
probably benign |
Het |
| Met |
T |
A |
6: 17,534,230 (GRCm39) |
I691N |
possibly damaging |
Het |
| Mycbp2 |
A |
T |
14: 103,425,937 (GRCm39) |
I2396K |
probably damaging |
Het |
| Napg |
C |
A |
18: 63,119,516 (GRCm39) |
Q135K |
probably benign |
Het |
| Nf2 |
A |
T |
11: 4,739,655 (GRCm39) |
|
probably null |
Het |
| Nrxn1 |
G |
T |
17: 90,950,531 (GRCm39) |
H549Q |
probably damaging |
Het |
| P4ha1 |
T |
A |
10: 59,197,736 (GRCm39) |
I321K |
probably damaging |
Het |
| Prl5a1 |
T |
C |
13: 28,332,683 (GRCm39) |
S94P |
probably benign |
Het |
| Prnp |
T |
C |
2: 131,778,990 (GRCm39) |
V214A |
probably benign |
Het |
| Ptprc |
A |
T |
1: 137,993,936 (GRCm39) |
F1165I |
probably damaging |
Het |
| Rdh10 |
T |
C |
1: 16,198,483 (GRCm39) |
V207A |
possibly damaging |
Het |
| Rel |
A |
T |
11: 23,703,218 (GRCm39) |
N131K |
probably benign |
Het |
| Rgs14 |
A |
T |
13: 55,531,338 (GRCm39) |
D448V |
probably benign |
Het |
| Spag5 |
T |
G |
11: 78,195,085 (GRCm39) |
S131A |
probably benign |
Het |
| Styxl1 |
C |
T |
5: 135,794,604 (GRCm39) |
D88N |
probably damaging |
Het |
| Tlr3 |
C |
T |
8: 45,851,376 (GRCm39) |
R507H |
probably benign |
Het |
| Ttn |
C |
T |
2: 76,616,670 (GRCm39) |
E16528K |
possibly damaging |
Het |
| Txlnb |
T |
C |
10: 17,682,606 (GRCm39) |
|
probably null |
Het |
| Unc13a |
A |
G |
8: 72,107,591 (GRCm39) |
V567A |
probably damaging |
Het |
| Vmn1r8 |
T |
C |
6: 57,013,653 (GRCm39) |
S235P |
possibly damaging |
Het |
| Vmn2r51 |
T |
A |
7: 9,839,409 (GRCm39) |
N60Y |
probably damaging |
Het |
| Wbp1l |
T |
A |
19: 46,640,922 (GRCm39) |
L68Q |
probably damaging |
Het |
| Wdfy3 |
A |
T |
5: 102,071,947 (GRCm39) |
V981E |
probably benign |
Het |
| Zdhhc13 |
T |
C |
7: 48,458,613 (GRCm39) |
S316P |
probably damaging |
Het |
| Zfp516 |
C |
T |
18: 83,005,486 (GRCm39) |
R797C |
probably benign |
Het |
| Zp3r |
A |
G |
1: 130,526,657 (GRCm39) |
V182A |
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 |
|
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 |
|
IGL02956:Akna
|
APN |
4 |
63,304,516 (GRCm39) |
missense |
probably benign |
0.05 |
|
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 |
2014-02-04 |
Incidental Mutation