Incidental Mutation 'R7786:Akna'
| ID |
599527 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Akna
|
| Ensembl Gene |
ENSMUSG00000039158 |
| Gene Name |
AT-hook transcription factor |
| Synonyms |
|
| MMRRC Submission |
045842-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.081)
|
| Stock # |
R7786 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
4 |
| Chromosomal Location |
63285362-63321591 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 63313199 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Proline
at position 308
(L308P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000041614
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000035724]
|
| AlphaFold |
Q80VW7 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000035724
AA Change: L308P
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000041614
Gene: ENSMUSG00000039158
AA Change: L308P
| 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 |
95% (42/44) |
| 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: 43 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acaa2 |
T |
C |
18: 74,925,518 (GRCm39) |
S94P |
probably damaging |
Het |
| Adam18 |
C |
T |
8: 25,101,134 (GRCm39) |
R676H |
probably benign |
Het |
| Ambra1 |
G |
C |
2: 91,598,141 (GRCm39) |
V101L |
possibly damaging |
Het |
| Arnt |
A |
G |
3: 95,392,267 (GRCm39) |
D377G |
probably damaging |
Het |
| Card6 |
TTGGGAGGACTGTGGATGAGAGGGCTTAGCATGGGAGGACTGTGGATGAGAGGGCTTAGCATGGGAGGACTGTGGATGAGAGGGCTTAGCATGGGAGGACTGCGGATGAGAGGGCTTAGCATGGGAGGACTG |
TTGGGAGGACTGTGGATGAGAGGGCTTAGCATGGGAGGACTGTGGATGAGAGGGCTTAGCATGGGAGGACTGCGGATGAGAGGGCTTAGCATGGGAGGACTG |
15: 5,128,173 (GRCm39) |
|
probably benign |
Het |
| Cdr1 |
AAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCAGAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCAGAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCAGAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCAGAAGTCCAAGTCTTCCCAGAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCAGAAGTCCAAGTCTTCCCAGAAGTCCAAGTCTTCCCGAAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCC |
AAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCAGAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCAGAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCAGAAGTCCAAGTCTTCCCAGAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCAGAAGTCCAAGTCTTCCCAGAAGTCCAAGTCTTCCCGAAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCC |
X: 60,228,130 (GRCm39) |
|
probably benign |
Het |
| Cfap210 |
A |
T |
2: 69,612,092 (GRCm39) |
W179R |
probably damaging |
Het |
| Cit |
C |
A |
5: 116,001,077 (GRCm39) |
Q159K |
probably benign |
Het |
| Dnah1 |
A |
T |
14: 30,984,478 (GRCm39) |
H3935Q |
probably damaging |
Het |
| Emc8 |
T |
C |
8: 121,394,656 (GRCm39) |
Y21C |
probably damaging |
Het |
| Fcrla |
G |
T |
1: 170,748,426 (GRCm39) |
P265Q |
possibly damaging |
Het |
| Gabbr1 |
A |
T |
17: 37,380,955 (GRCm39) |
N766I |
probably damaging |
Het |
| Galnt14 |
T |
A |
17: 74,016,976 (GRCm39) |
T27S |
probably benign |
Het |
| Garin2 |
T |
A |
12: 78,766,403 (GRCm39) |
S391T |
probably benign |
Het |
| Gatad2b |
T |
C |
3: 90,262,986 (GRCm39) |
I476T |
probably damaging |
Het |
| Gstcd |
C |
T |
3: 132,787,868 (GRCm39) |
V277M |
probably damaging |
Het |
| Gtf2ird1 |
C |
A |
5: 134,419,753 (GRCm39) |
G71* |
probably null |
Het |
| Hdac11 |
T |
A |
6: 91,150,158 (GRCm39) |
L319* |
probably null |
Het |
| Hsd11b2 |
T |
A |
8: 106,245,506 (GRCm39) |
W4R |
probably damaging |
Het |
| Katnip |
A |
G |
7: 125,464,466 (GRCm39) |
I1278V |
probably benign |
Het |
| Krt76 |
T |
A |
15: 101,798,965 (GRCm39) |
E240V |
probably damaging |
Het |
| Man2b1 |
C |
T |
8: 85,812,085 (GRCm39) |
Q180* |
probably null |
Het |
| Megf8 |
T |
C |
7: 25,017,120 (GRCm39) |
|
probably null |
Het |
| Mlh3 |
T |
C |
12: 85,313,511 (GRCm39) |
T892A |
probably benign |
Het |
| Mmp21 |
C |
T |
7: 133,276,764 (GRCm39) |
S413N |
probably benign |
Het |
| Nav1 |
T |
C |
1: 135,397,733 (GRCm39) |
D812G |
probably damaging |
Het |
| Nox4 |
T |
A |
7: 86,945,050 (GRCm39) |
I71N |
probably damaging |
Het |
| Oplah |
T |
A |
15: 76,193,916 (GRCm39) |
I14F |
possibly damaging |
Het |
| Or51i2 |
G |
A |
7: 103,689,930 (GRCm39) |
R309H |
unknown |
Het |
| Or52p1 |
T |
A |
7: 104,266,925 (GRCm39) |
I13N |
probably benign |
Het |
| Or5w16 |
A |
T |
2: 87,576,645 (GRCm39) |
Y35F |
probably damaging |
Het |
| Pik3ap1 |
A |
G |
19: 41,310,024 (GRCm39) |
M432T |
probably damaging |
Het |
| Plin3 |
G |
A |
17: 56,586,757 (GRCm39) |
T430I |
probably benign |
Het |
| Poc5 |
C |
A |
13: 96,541,027 (GRCm39) |
Q399K |
possibly damaging |
Het |
| Ptprz1 |
G |
A |
6: 23,036,992 (GRCm39) |
G2013R |
probably damaging |
Het |
| Rgs7bp |
T |
C |
13: 105,190,568 (GRCm39) |
D52G |
probably benign |
Het |
| Tenm2 |
A |
C |
11: 35,901,276 (GRCm39) |
F2488V |
probably damaging |
Het |
| Tnfaip8 |
G |
C |
18: 50,180,178 (GRCm39) |
A110P |
unknown |
Het |
| Tnfaip8 |
C |
T |
18: 50,180,179 (GRCm39) |
A110V |
unknown |
Het |
| Top3a |
C |
T |
11: 60,667,792 (GRCm39) |
A46T |
probably damaging |
Het |
| Try10 |
T |
A |
6: 41,332,463 (GRCm39) |
S40T |
possibly damaging |
Het |
| Vav2 |
C |
A |
2: 27,276,613 (GRCm39) |
L70F |
probably damaging |
Het |
| Xylt1 |
C |
A |
7: 117,242,702 (GRCm39) |
|
probably null |
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 |
|
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 |
|
|
| Predicted Primers |
PCR Primer
(F):5'- CGACTTGAAGATGAGGGGTCTG -3'
(R):5'- ATTCCGGGACTCCTTAGCAG -3'
Sequencing Primer
(F):5'- CCTGTTGTGGCCTCTGGAC -3'
(R):5'- ACTCCTTAGCAGCGCCAG -3'
|
| Posted On |
2019-11-26 |
Incidental Mutation