Incidental Mutation 'R9136:Akna'
| ID |
694008 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Akna
|
| Ensembl Gene |
ENSMUSG00000039158 |
| Gene Name |
AT-hook transcription factor |
| Synonyms |
|
| MMRRC Submission |
068931-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.081)
|
| Stock # |
R9136 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
4 |
| Chromosomal Location |
63285362-63321591 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 63310392 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Asparagine
at position 451
(D451N)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000041614
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000035724]
|
| AlphaFold |
Q80VW7 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000035724
AA Change: D451N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000041614
Gene: ENSMUSG00000039158
AA Change: D451N
| 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 |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.3%
|
| Validation Efficiency |
100% (71/71) |
| 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: 73 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca3 |
A |
G |
17: 24,596,807 (GRCm39) |
Q420R |
probably benign |
Het |
| Abcb9 |
T |
C |
5: 124,228,176 (GRCm39) |
T22A |
possibly damaging |
Het |
| Acsl5 |
A |
T |
19: 55,266,400 (GRCm39) |
K109N |
probably benign |
Het |
| Agpat3 |
T |
C |
10: 78,120,893 (GRCm39) |
N95S |
probably damaging |
Het |
| Ankrd17 |
A |
T |
5: 90,392,278 (GRCm39) |
D1797E |
probably damaging |
Het |
| Ano2 |
A |
G |
6: 125,959,962 (GRCm39) |
N691S |
probably damaging |
Het |
| Arrdc1 |
A |
T |
2: 24,817,193 (GRCm39) |
|
probably benign |
Het |
| Ccdc63 |
G |
A |
5: 122,259,146 (GRCm39) |
R251W |
probably damaging |
Het |
| Cd70 |
T |
C |
17: 57,453,152 (GRCm39) |
T171A |
possibly damaging |
Het |
| Cenpf |
A |
T |
1: 189,403,352 (GRCm39) |
S382T |
probably benign |
Het |
| Cox5b-ps |
A |
C |
13: 21,685,587 (GRCm39) |
M1R |
probably null |
Het |
| Ddx19b |
G |
T |
8: 111,734,906 (GRCm39) |
D487E |
probably benign |
Het |
| Dlgap4 |
G |
A |
2: 156,588,075 (GRCm39) |
E640K |
possibly damaging |
Het |
| Dtnbp1 |
A |
T |
13: 45,084,546 (GRCm39) |
F198Y |
possibly damaging |
Het |
| Epha10 |
T |
C |
4: 124,796,427 (GRCm39) |
Y379H |
|
Het |
| Eral1 |
A |
G |
11: 77,964,960 (GRCm39) |
I411T |
|
Het |
| Exd1 |
C |
T |
2: 119,359,385 (GRCm39) |
G193E |
probably damaging |
Het |
| Fat3 |
C |
A |
9: 15,833,738 (GRCm39) |
A105S |
|
Het |
| Fbp2 |
C |
T |
13: 63,002,840 (GRCm39) |
V71M |
possibly damaging |
Het |
| Gm10801 |
C |
CGTA |
2: 98,494,152 (GRCm39) |
|
probably null |
Het |
| Grm5 |
G |
A |
7: 87,689,254 (GRCm39) |
V542I |
possibly damaging |
Het |
| Hdc |
C |
T |
2: 126,439,786 (GRCm39) |
|
probably null |
Het |
| Hspe1 |
G |
T |
1: 55,128,314 (GRCm39) |
K36N |
probably damaging |
Het |
| Hypk |
T |
A |
2: 121,287,636 (GRCm39) |
L17* |
probably null |
Het |
| Il18rap |
C |
T |
1: 40,582,177 (GRCm39) |
T366M |
probably benign |
Het |
| Immt |
C |
T |
6: 71,851,403 (GRCm39) |
T588I |
probably damaging |
Het |
| Kat2b |
T |
A |
17: 53,936,364 (GRCm39) |
S179T |
probably benign |
Het |
| Krtap19-5 |
C |
T |
16: 88,693,246 (GRCm39) |
G22D |
unknown |
Het |
| Lipk |
A |
G |
19: 33,999,830 (GRCm39) |
D153G |
probably damaging |
Het |
| Lnpep |
A |
G |
17: 17,750,090 (GRCm39) |
V1000A |
probably benign |
Het |
| Map3k7cl |
T |
C |
16: 87,391,227 (GRCm39) |
L117P |
probably damaging |
Het |
| Meikin |
A |
G |
11: 54,285,464 (GRCm39) |
E167G |
possibly damaging |
Het |
| Miox |
A |
G |
15: 89,220,740 (GRCm39) |
Y215C |
probably damaging |
Het |
| Mthfd1 |
T |
G |
12: 76,350,649 (GRCm39) |
M677R |
probably damaging |
Het |
| Ncoa7 |
G |
A |
10: 30,567,628 (GRCm39) |
S350L |
probably benign |
Het |
| Nox4 |
G |
A |
7: 87,025,448 (GRCm39) |
R525Q |
probably benign |
Het |
| Nrg3 |
A |
T |
14: 38,119,262 (GRCm39) |
N403K |
possibly damaging |
Het |
| Nup210 |
T |
C |
6: 91,020,830 (GRCm39) |
T955A |
possibly damaging |
Het |
| Odf2l |
C |
A |
3: 144,851,698 (GRCm39) |
T82K |
|
Het |
| Or10ag56 |
A |
G |
2: 87,139,219 (GRCm39) |
I49V |
possibly damaging |
Het |
| Or1m1 |
T |
C |
9: 18,666,175 (GRCm39) |
Y252C |
probably damaging |
Het |
| Or4c108 |
T |
A |
2: 88,804,113 (GRCm39) |
M41L |
probably benign |
Het |
| Or8w1 |
A |
G |
2: 87,465,341 (GRCm39) |
V250A |
probably benign |
Het |
| Otud7b |
T |
A |
3: 96,059,815 (GRCm39) |
|
probably benign |
Het |
| Pcm1 |
C |
T |
8: 41,732,825 (GRCm39) |
S694L |
probably benign |
Het |
| Pex11b |
T |
C |
3: 96,551,259 (GRCm39) |
L248P |
probably damaging |
Het |
| Pira13 |
A |
T |
7: 3,826,285 (GRCm39) |
I236N |
|
Het |
| Ppp3cb |
T |
C |
14: 20,581,867 (GRCm39) |
I49M |
probably benign |
Het |
| Prorp |
C |
T |
12: 55,350,727 (GRCm39) |
P12L |
probably benign |
Het |
| Prr14l |
A |
C |
5: 32,986,080 (GRCm39) |
C1138W |
|
Het |
| Prss1 |
T |
G |
6: 41,438,280 (GRCm39) |
|
probably benign |
Het |
| Psg22 |
T |
A |
7: 18,460,811 (GRCm39) |
I480K |
probably damaging |
Het |
| Rgs21 |
A |
C |
1: 144,412,653 (GRCm39) |
F57C |
|
Het |
| Rngtt |
T |
A |
4: 33,404,218 (GRCm39) |
D468E |
probably damaging |
Het |
| Rorb |
A |
T |
19: 18,934,686 (GRCm39) |
V313E |
probably damaging |
Het |
| Sdk2 |
A |
G |
11: 113,697,203 (GRCm39) |
F1736S |
probably damaging |
Het |
| Sertad2 |
A |
T |
11: 20,598,425 (GRCm39) |
E207V |
probably benign |
Het |
| Slitrk1 |
T |
C |
14: 109,148,981 (GRCm39) |
I577V |
|
Het |
| Sos2 |
C |
A |
12: 69,633,446 (GRCm39) |
E1143D |
possibly damaging |
Het |
| Spen |
T |
C |
4: 141,249,623 (GRCm39) |
D55G |
unknown |
Het |
| Stoml1 |
C |
A |
9: 58,168,236 (GRCm39) |
Q316K |
possibly damaging |
Het |
| Synpo2l |
C |
T |
14: 20,715,857 (GRCm39) |
A243T |
probably damaging |
Het |
| Tenm4 |
A |
T |
7: 96,473,125 (GRCm39) |
I974F |
possibly damaging |
Het |
| Trp53bp1 |
T |
A |
2: 121,067,092 (GRCm39) |
I545F |
possibly damaging |
Het |
| Unc13a |
T |
C |
8: 72,104,994 (GRCm39) |
D756G |
possibly damaging |
Het |
| Uqcrc1 |
A |
G |
9: 108,776,973 (GRCm39) |
N393D |
possibly damaging |
Het |
| Vcl |
T |
A |
14: 21,057,344 (GRCm39) |
D505E |
probably benign |
Het |
| Vwf |
A |
T |
6: 125,576,356 (GRCm39) |
|
probably benign |
Het |
| Wdr11 |
A |
G |
7: 129,204,816 (GRCm39) |
H207R |
|
Het |
| Zc3h7b |
A |
G |
15: 81,653,312 (GRCm39) |
D72G |
probably damaging |
Het |
| Zfp507 |
A |
T |
7: 35,475,883 (GRCm39) |
D813E |
probably damaging |
Het |
| Zfp704 |
T |
C |
3: 9,509,324 (GRCm39) |
S374G |
probably benign |
Het |
| Zfp97 |
G |
A |
17: 17,365,215 (GRCm39) |
C238Y |
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 |
|
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 |
|
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 |
|
|
| Predicted Primers |
PCR Primer
(F):5'- TCTCCAGTACACAGCCTCAG -3'
(R):5'- TGCATATGTGAATCCATGTGC -3'
Sequencing Primer
(F):5'- AGCCTCAGGATCCCAGAG -3'
(R):5'- GGTACACACCAGTTCTGCTAG -3'
|
| Posted On |
2022-01-20 |
Incidental Mutation