Incidental Mutation 'R6337:Akna'
| ID |
513739 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Akna
|
| Ensembl Gene |
ENSMUSG00000039158 |
| Gene Name |
AT-hook transcription factor |
| Synonyms |
|
| MMRRC Submission |
044491-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.081)
|
| Stock # |
R6337 (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 63292240 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Histidine
at position 1142
(Y1142H)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000041614
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000035724]
|
| AlphaFold |
Q80VW7 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000035724
AA Change: Y1142H
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000041614
Gene: ENSMUSG00000039158
AA Change: Y1142H
| 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: 99.9%
- 3x: 99.6%
- 10x: 98.0%
- 20x: 94.1%
|
| Validation Efficiency |
98% (61/62) |
| 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: 62 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4933434E20Rik |
T |
G |
3: 89,969,040 (GRCm39) |
V221G |
probably benign |
Het |
| Abca12 |
G |
A |
1: 71,334,172 (GRCm39) |
A1110V |
probably damaging |
Het |
| Acsl6 |
C |
A |
11: 54,231,368 (GRCm39) |
P462T |
probably damaging |
Het |
| Acsm5 |
G |
A |
7: 119,133,458 (GRCm39) |
A208T |
probably benign |
Het |
| Adcyap1 |
T |
A |
17: 93,509,709 (GRCm39) |
Y53* |
probably null |
Het |
| Adgrg7 |
T |
A |
16: 56,572,788 (GRCm39) |
I343F |
probably damaging |
Het |
| Agl |
T |
A |
3: 116,580,426 (GRCm39) |
K376M |
possibly damaging |
Het |
| Anks1b |
A |
T |
10: 90,757,158 (GRCm39) |
T182S |
probably benign |
Het |
| Apol7e |
T |
A |
15: 77,598,582 (GRCm39) |
Y16N |
possibly damaging |
Het |
| Bptf |
G |
T |
11: 106,949,605 (GRCm39) |
T2238K |
possibly damaging |
Het |
| Ccdc87 |
A |
G |
19: 4,889,829 (GRCm39) |
E107G |
probably benign |
Het |
| Ccng2 |
C |
T |
5: 93,418,780 (GRCm39) |
A135V |
probably benign |
Het |
| Chd8 |
C |
A |
14: 52,441,566 (GRCm39) |
R842L |
probably damaging |
Het |
| Cldn18 |
T |
A |
9: 99,591,995 (GRCm39) |
T3S |
probably benign |
Het |
| Dhcr7 |
T |
C |
7: 143,390,468 (GRCm39) |
|
probably null |
Het |
| Dnah8 |
G |
A |
17: 30,967,542 (GRCm39) |
D2585N |
probably benign |
Het |
| Dusp26 |
T |
C |
8: 31,586,325 (GRCm39) |
V182A |
probably damaging |
Het |
| Eif3e |
T |
C |
15: 43,115,692 (GRCm39) |
D358G |
possibly damaging |
Het |
| Epha3 |
A |
T |
16: 63,388,806 (GRCm39) |
L814H |
probably damaging |
Het |
| Flnc |
A |
G |
6: 29,454,318 (GRCm39) |
N1877S |
probably damaging |
Het |
| Fpgs |
A |
T |
2: 32,577,953 (GRCm39) |
Y156* |
probably null |
Het |
| Gm10549 |
C |
A |
18: 33,597,358 (GRCm39) |
|
probably benign |
Het |
| Gm11595 |
G |
A |
11: 99,663,381 (GRCm39) |
R100C |
unknown |
Het |
| Gm5591 |
T |
C |
7: 38,221,319 (GRCm39) |
D250G |
probably benign |
Het |
| Gtf2e2 |
C |
T |
8: 34,266,043 (GRCm39) |
R240* |
probably null |
Het |
| Hells |
G |
T |
19: 38,943,254 (GRCm39) |
Q519H |
probably benign |
Het |
| Hscb |
A |
G |
5: 110,987,360 (GRCm39) |
|
probably null |
Het |
| Inpp5k |
T |
A |
11: 75,537,640 (GRCm39) |
I350N |
probably damaging |
Het |
| Irf9 |
G |
A |
14: 55,843,799 (GRCm39) |
V221I |
possibly damaging |
Het |
| Itga8 |
A |
T |
2: 12,258,280 (GRCm39) |
Y261* |
probably null |
Het |
| Itprid2 |
G |
A |
2: 79,485,463 (GRCm39) |
D506N |
probably damaging |
Het |
| Lama1 |
C |
T |
17: 68,093,014 (GRCm39) |
T1684M |
probably benign |
Het |
| Lrp2 |
A |
T |
2: 69,268,811 (GRCm39) |
H4157Q |
probably damaging |
Het |
| Nceh1 |
G |
T |
3: 27,276,956 (GRCm39) |
R93L |
probably damaging |
Het |
| Nell2 |
A |
G |
15: 95,283,025 (GRCm39) |
F339S |
probably damaging |
Het |
| Or2t49 |
A |
T |
11: 58,392,838 (GRCm39) |
C181* |
probably null |
Het |
| Phf11a |
C |
A |
14: 59,521,817 (GRCm39) |
C118F |
probably damaging |
Het |
| Purg |
A |
G |
8: 33,876,451 (GRCm39) |
K30E |
possibly damaging |
Het |
| Qprt |
C |
T |
7: 126,708,101 (GRCm39) |
R110H |
probably damaging |
Het |
| Robo2 |
T |
C |
16: 73,725,039 (GRCm39) |
T1055A |
probably benign |
Het |
| Serpina3a |
T |
C |
12: 104,079,137 (GRCm39) |
F10L |
probably benign |
Het |
| Sidt1 |
A |
T |
16: 44,121,298 (GRCm39) |
|
probably null |
Het |
| Slc4a4 |
T |
A |
5: 89,194,231 (GRCm39) |
M237K |
probably benign |
Het |
| Slitrk5 |
A |
T |
14: 111,917,684 (GRCm39) |
D436V |
probably damaging |
Het |
| Snd1 |
T |
C |
6: 28,888,288 (GRCm39) |
Y908H |
probably damaging |
Het |
| Sorcs1 |
A |
G |
19: 50,132,562 (GRCm39) |
V1132A |
probably benign |
Het |
| Speer3 |
A |
G |
5: 13,843,369 (GRCm39) |
E92G |
probably damaging |
Het |
| Strada |
T |
C |
11: 106,064,143 (GRCm39) |
E58G |
possibly damaging |
Het |
| Tbx10 |
A |
T |
19: 4,047,312 (GRCm39) |
K139* |
probably null |
Het |
| Tcf4 |
T |
C |
18: 69,766,651 (GRCm39) |
Y25H |
probably damaging |
Het |
| Tmem108 |
C |
T |
9: 103,376,960 (GRCm39) |
R163H |
possibly damaging |
Het |
| Top2b |
A |
G |
14: 16,399,026 (GRCm38) |
T549A |
possibly damaging |
Het |
| Tpcn2 |
A |
G |
7: 144,833,080 (GRCm39) |
I46T |
probably damaging |
Het |
| Uox |
C |
T |
3: 146,330,332 (GRCm39) |
R163* |
probably null |
Het |
| Vipr2 |
T |
A |
12: 116,086,363 (GRCm39) |
Y129* |
probably null |
Het |
| Vps37a |
A |
T |
8: 40,993,749 (GRCm39) |
Q248L |
probably benign |
Het |
| Wrap53 |
T |
C |
11: 69,468,511 (GRCm39) |
I179V |
probably benign |
Het |
| Zan |
G |
A |
5: 137,450,750 (GRCm39) |
A1609V |
unknown |
Het |
| Zbtb17 |
G |
A |
4: 141,190,694 (GRCm39) |
G171S |
probably benign |
Het |
| Zbtb5 |
G |
A |
4: 44,993,459 (GRCm39) |
R642W |
probably damaging |
Het |
| Zfyve27 |
A |
G |
19: 42,171,096 (GRCm39) |
|
probably null |
Het |
| Zup1 |
T |
C |
10: 33,825,252 (GRCm39) |
N77D |
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 |
|
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 |
|
|
| Predicted Primers |
PCR Primer
(F):5'- TGGTGAGCATCTACACAAATCCC -3'
(R):5'- CACATATGCCAGGGCCATATG -3'
Sequencing Primer
(F):5'- CTCATGGTAACGGCAGAGTCTAC -3'
(R):5'- CATCCGGTGACGTCATAT -3'
|
| Posted On |
2018-04-27 |
Incidental Mutation