Incidental Mutation 'R3552:Akna'
ID |
268978 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Akna
|
Ensembl Gene |
ENSMUSG00000039158 |
Gene Name |
AT-hook transcription factor |
Synonyms |
|
MMRRC Submission |
040669-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.081)
|
Stock # |
R3552 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
4 |
Chromosomal Location |
63285362-63321591 bp(-) (GRCm39) |
Type of Mutation |
start codon destroyed |
DNA Base Change (assembly) |
T to C
at 63316361 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Methionine to Valine
at position 1
(M1V)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000041614
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000035724]
|
AlphaFold |
Q80VW7 |
Predicted Effect |
probably null
Transcript: ENSMUST00000035724
AA Change: M1V
PolyPhen 2
Score 0.528 (Sensitivity: 0.88; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000041614 Gene: ENSMUSG00000039158 AA Change: M1V
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
|
Meta Mutation Damage Score |
0.9622 |
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.5%
- 10x: 96.8%
- 20x: 93.4%
|
Validation Efficiency |
100% (66/66) |
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: 63 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acaca |
T |
A |
11: 84,152,450 (GRCm39) |
Y866N |
probably damaging |
Het |
Agk |
A |
G |
6: 40,371,615 (GRCm39) |
T371A |
probably benign |
Het |
Aldh7a1 |
T |
C |
18: 56,683,364 (GRCm39) |
|
probably null |
Het |
Ankrd26 |
A |
T |
6: 118,484,737 (GRCm39) |
L1500H |
probably damaging |
Het |
Atp13a5 |
T |
A |
16: 29,129,584 (GRCm39) |
D452V |
probably damaging |
Het |
Bahcc1 |
C |
T |
11: 120,167,598 (GRCm39) |
T1333M |
possibly damaging |
Het |
Carmil3 |
G |
T |
14: 55,744,859 (GRCm39) |
R1276L |
possibly damaging |
Het |
Ccni |
T |
C |
5: 93,335,620 (GRCm39) |
S173G |
probably benign |
Het |
Chrm2 |
A |
T |
6: 36,500,745 (GRCm39) |
I201F |
probably damaging |
Het |
Col16a1 |
A |
G |
4: 129,970,834 (GRCm39) |
T618A |
probably benign |
Het |
Dele1 |
A |
G |
18: 38,391,418 (GRCm39) |
|
probably benign |
Het |
Dock2 |
T |
C |
11: 34,611,787 (GRCm39) |
Y192C |
probably benign |
Het |
Ep400 |
T |
A |
5: 110,877,153 (GRCm39) |
E821V |
unknown |
Het |
Esrrg |
G |
A |
1: 187,882,387 (GRCm39) |
V215I |
probably benign |
Het |
Evx1 |
A |
T |
6: 52,293,908 (GRCm39) |
S359C |
probably damaging |
Het |
Fcrl2 |
A |
G |
3: 87,166,717 (GRCm39) |
I92T |
possibly damaging |
Het |
Gal3st1 |
T |
A |
11: 3,948,110 (GRCm39) |
F106I |
possibly damaging |
Het |
Gm9944 |
T |
C |
4: 144,179,613 (GRCm39) |
|
probably benign |
Het |
Hjurp |
GT |
GTT |
1: 88,194,246 (GRCm39) |
|
probably null |
Het |
Hrc |
G |
C |
7: 44,985,757 (GRCm39) |
E303Q |
possibly damaging |
Het |
Kcnh1 |
A |
G |
1: 191,921,074 (GRCm39) |
N118D |
probably damaging |
Het |
Khdrbs1 |
A |
G |
4: 129,614,584 (GRCm39) |
I323T |
possibly damaging |
Het |
Klhdc7b |
T |
C |
15: 89,271,724 (GRCm39) |
Y869H |
probably benign |
Het |
Lrrc4c |
T |
A |
2: 97,460,306 (GRCm39) |
W311R |
probably damaging |
Het |
Megf11 |
A |
G |
9: 64,602,745 (GRCm39) |
D862G |
possibly damaging |
Het |
Muc5b |
A |
G |
7: 141,415,072 (GRCm39) |
T2673A |
possibly damaging |
Het |
Muc5b |
A |
G |
7: 141,421,442 (GRCm39) |
S4311G |
probably benign |
Het |
Myo15a |
C |
T |
11: 60,400,489 (GRCm39) |
A1767V |
possibly damaging |
Het |
Neo1 |
T |
A |
9: 58,801,161 (GRCm39) |
K1140M |
probably damaging |
Het |
Oc90 |
T |
C |
15: 65,750,650 (GRCm39) |
Q365R |
possibly damaging |
Het |
Oplah |
C |
T |
15: 76,186,294 (GRCm39) |
D734N |
possibly damaging |
Het |
Or1e19 |
T |
C |
11: 73,316,678 (GRCm39) |
I44V |
probably benign |
Het |
Or4c58 |
A |
C |
2: 89,674,687 (GRCm39) |
M210R |
possibly damaging |
Het |
Or9g3 |
T |
C |
2: 85,590,237 (GRCm39) |
N161S |
possibly damaging |
Het |
Pbx1 |
G |
A |
1: 167,986,362 (GRCm39) |
P411L |
possibly damaging |
Het |
Pcdhga6 |
G |
T |
18: 37,841,270 (GRCm39) |
R330L |
probably benign |
Het |
Phox2b |
C |
A |
5: 67,254,999 (GRCm39) |
R150L |
probably damaging |
Het |
Plscr2 |
A |
G |
9: 92,172,848 (GRCm39) |
E169G |
probably damaging |
Het |
Ptprn2 |
A |
T |
12: 116,852,497 (GRCm39) |
Q518L |
probably benign |
Het |
Rbl1 |
A |
T |
2: 157,037,505 (GRCm39) |
I214K |
probably benign |
Het |
Ryr1 |
T |
A |
7: 28,756,422 (GRCm39) |
Q3464L |
probably damaging |
Het |
Ryr3 |
T |
A |
2: 112,582,132 (GRCm39) |
I2854F |
probably damaging |
Het |
Shtn1 |
T |
C |
19: 58,963,470 (GRCm39) |
Y615C |
probably benign |
Het |
Sirt5 |
A |
T |
13: 43,536,643 (GRCm39) |
N226Y |
probably damaging |
Het |
Slc30a3 |
G |
A |
5: 31,252,422 (GRCm39) |
|
probably benign |
Het |
Slc5a4b |
A |
G |
10: 75,917,358 (GRCm39) |
V226A |
probably damaging |
Het |
Slf2 |
C |
A |
19: 44,923,390 (GRCm39) |
S68* |
probably null |
Het |
Smyd5 |
G |
A |
6: 85,419,193 (GRCm39) |
E292K |
probably damaging |
Het |
Spns1 |
A |
G |
7: 125,969,543 (GRCm39) |
V512A |
possibly damaging |
Het |
Sry |
T |
A |
Y: 2,663,141 (GRCm39) |
Q173L |
unknown |
Het |
Ssrp1 |
C |
A |
2: 84,874,736 (GRCm39) |
Q519K |
probably benign |
Het |
Tgfbr3 |
T |
C |
5: 107,287,705 (GRCm39) |
E498G |
probably damaging |
Het |
Tnrc6b |
T |
G |
15: 80,764,448 (GRCm39) |
L650W |
probably damaging |
Het |
Tnxb |
A |
T |
17: 34,937,695 (GRCm39) |
E3861D |
probably damaging |
Het |
Trbc1 |
G |
T |
6: 41,516,579 (GRCm39) |
|
probably benign |
Het |
Trpm7 |
T |
A |
2: 126,668,630 (GRCm39) |
|
probably benign |
Het |
Usp39 |
G |
A |
6: 72,314,815 (GRCm39) |
T197I |
possibly damaging |
Het |
Vmn1r38 |
T |
C |
6: 66,753,477 (GRCm39) |
H213R |
possibly damaging |
Het |
Washc2 |
A |
G |
6: 116,197,529 (GRCm39) |
D168G |
probably damaging |
Het |
Washc4 |
A |
G |
10: 83,382,720 (GRCm39) |
I45V |
probably benign |
Het |
Zfp352 |
A |
G |
4: 90,113,339 (GRCm39) |
E493G |
probably benign |
Het |
Zfp692 |
C |
T |
11: 58,200,254 (GRCm39) |
T170I |
possibly damaging |
Het |
Zfp735 |
C |
A |
11: 73,602,067 (GRCm39) |
S337* |
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 |
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 |
|
|
Predicted Primers |
PCR Primer
(F):5'- TTCGGAGTCCTGCATGTCTG -3'
(R):5'- GATGAGTTCCTGGACGGATG -3'
Sequencing Primer
(F):5'- ATGTCTGGGTCCCACTCCAG -3'
(R):5'- CTGGACGGATGGTGGAAGACTC -3'
|
Posted On |
2015-02-19 |