Incidental Mutation 'R5773:Akna'
| ID |
445490 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Akna
|
| Ensembl Gene |
ENSMUSG00000039158 |
| Gene Name |
AT-hook transcription factor |
| Synonyms |
|
| MMRRC Submission |
043372-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.081)
|
| Stock # |
R5773 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
4 |
| Chromosomal Location |
63285362-63321591 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 63313307 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Asparagine
at position 272
(S272N)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000041614
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000035724]
|
| AlphaFold |
Q80VW7 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000035724
AA Change: S272N
PolyPhen 2
Score 0.411 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000041614
Gene: ENSMUSG00000039158
AA Change: S272N
| 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 |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.8%
|
| 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: 57 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acss2 |
G |
A |
2: 155,416,614 (GRCm39) |
|
probably null |
Het |
| Ap2m1 |
T |
C |
16: 20,362,140 (GRCm39) |
V416A |
probably damaging |
Het |
| Atp7b |
A |
G |
8: 22,517,879 (GRCm39) |
F320L |
probably benign |
Het |
| Brd1 |
T |
C |
15: 88,573,752 (GRCm39) |
K1116E |
probably benign |
Het |
| Ccdc186 |
T |
C |
19: 56,801,919 (GRCm39) |
D66G |
probably benign |
Het |
| Cdh4 |
A |
G |
2: 179,527,789 (GRCm39) |
Y503C |
probably damaging |
Het |
| Cfb |
C |
A |
17: 35,076,248 (GRCm39) |
E166* |
probably null |
Het |
| Cmtm1 |
A |
T |
8: 105,031,808 (GRCm39) |
F90I |
probably damaging |
Het |
| Col1a1 |
A |
T |
11: 94,830,255 (GRCm39) |
K160N |
probably benign |
Het |
| Cradd |
T |
C |
10: 95,011,823 (GRCm39) |
I106V |
probably benign |
Het |
| Defa17 |
A |
G |
8: 22,146,574 (GRCm39) |
R67G |
probably damaging |
Het |
| Dgkh |
T |
C |
14: 78,832,895 (GRCm39) |
N765S |
probably damaging |
Het |
| Dock5 |
A |
G |
14: 68,033,507 (GRCm39) |
V954A |
possibly damaging |
Het |
| Eif2d |
A |
G |
1: 131,086,040 (GRCm39) |
|
probably null |
Het |
| Epg5 |
T |
A |
18: 78,004,040 (GRCm39) |
F683I |
probably damaging |
Het |
| Fhad1 |
T |
G |
4: 141,656,881 (GRCm39) |
K91T |
probably damaging |
Het |
| Fut11 |
A |
T |
14: 20,748,383 (GRCm39) |
D476V |
probably damaging |
Het |
| Gldn |
T |
C |
9: 54,241,775 (GRCm39) |
|
probably null |
Het |
| Gm7247 |
C |
T |
14: 51,601,805 (GRCm39) |
S26F |
probably benign |
Het |
| Gm8674 |
T |
A |
13: 50,055,912 (GRCm39) |
|
noncoding transcript |
Het |
| Gtpbp6 |
C |
A |
5: 110,254,757 (GRCm39) |
E168D |
possibly damaging |
Het |
| Hinfp |
T |
A |
9: 44,210,533 (GRCm39) |
H163L |
probably benign |
Het |
| Igkv6-29 |
C |
A |
6: 70,115,584 (GRCm39) |
G70V |
possibly damaging |
Het |
| Ing3 |
T |
A |
6: 21,971,834 (GRCm39) |
C368S |
probably damaging |
Het |
| Itih1 |
A |
G |
14: 30,657,356 (GRCm39) |
V489A |
possibly damaging |
Het |
| Itsn2 |
T |
C |
12: 4,757,089 (GRCm39) |
L1393P |
probably damaging |
Het |
| Kcnj13 |
T |
C |
1: 87,314,389 (GRCm39) |
T278A |
probably damaging |
Het |
| Kntc1 |
G |
A |
5: 123,932,220 (GRCm39) |
R1338Q |
probably damaging |
Het |
| Lipi |
T |
A |
16: 75,370,813 (GRCm39) |
T135S |
probably damaging |
Het |
| Map7 |
A |
G |
10: 20,122,390 (GRCm39) |
K152R |
probably benign |
Het |
| Mmp24 |
A |
G |
2: 155,641,829 (GRCm39) |
Y219C |
probably damaging |
Het |
| Nup188 |
T |
C |
2: 30,212,208 (GRCm39) |
V565A |
possibly damaging |
Het |
| Nup210 |
T |
C |
6: 91,062,865 (GRCm39) |
K265E |
probably damaging |
Het |
| Or10ak9 |
A |
G |
4: 118,726,718 (GRCm39) |
T247A |
probably damaging |
Het |
| Pcdha6 |
A |
T |
18: 37,102,643 (GRCm39) |
H612L |
probably benign |
Het |
| Pgpep1 |
G |
A |
8: 71,105,101 (GRCm39) |
T53M |
probably damaging |
Het |
| Pld2 |
G |
T |
11: 70,446,758 (GRCm39) |
S778I |
probably damaging |
Het |
| Ppef2 |
A |
C |
5: 92,398,420 (GRCm39) |
Y33D |
probably damaging |
Het |
| Ppfibp2 |
A |
T |
7: 107,285,079 (GRCm39) |
T129S |
possibly damaging |
Het |
| Prickle1 |
G |
T |
15: 93,406,478 (GRCm39) |
H182N |
probably damaging |
Het |
| R3hdm2 |
T |
A |
10: 127,280,172 (GRCm39) |
|
probably benign |
Het |
| Rbm12b1 |
A |
T |
4: 12,145,765 (GRCm39) |
E579V |
probably damaging |
Het |
| Rsf1 |
GGC |
GGCGGCGGCTGC |
7: 97,229,140 (GRCm39) |
|
probably benign |
Het |
| Slc1a6 |
T |
G |
10: 78,629,111 (GRCm39) |
|
probably null |
Het |
| Slc27a6 |
G |
T |
18: 58,715,245 (GRCm39) |
A283S |
probably damaging |
Het |
| Spats2l |
T |
A |
1: 57,918,708 (GRCm39) |
N27K |
possibly damaging |
Het |
| Srgap1 |
T |
C |
10: 121,732,614 (GRCm39) |
M155V |
probably benign |
Het |
| Stxbp5l |
C |
A |
16: 37,028,459 (GRCm39) |
A535S |
probably damaging |
Het |
| Svep1 |
C |
A |
4: 58,099,985 (GRCm39) |
C1353F |
possibly damaging |
Het |
| Taar4 |
T |
A |
10: 23,837,056 (GRCm39) |
I222N |
probably damaging |
Het |
| Tlr6 |
A |
G |
5: 65,111,846 (GRCm39) |
F354L |
probably benign |
Het |
| Trp53bp1 |
A |
G |
2: 121,074,395 (GRCm39) |
S452P |
probably damaging |
Het |
| Ttll5 |
GCCCTGCGGGGCTGCCACGCTGTCGATCCGGCAGCTAC |
G |
12: 85,980,329 (GRCm39) |
|
probably null |
Het |
| Usp42 |
A |
T |
5: 143,699,467 (GRCm39) |
M1264K |
probably benign |
Het |
| Zfp865 |
A |
T |
7: 5,037,693 (GRCm39) |
|
probably benign |
Het |
| Zfyve26 |
A |
T |
12: 79,334,511 (GRCm39) |
L169Q |
probably damaging |
Het |
| Zmym4 |
A |
T |
4: 126,799,163 (GRCm39) |
N383K |
possibly damaging |
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 |
|
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'- GCCATACTTGGGAGCTTGTG -3'
(R):5'- TACCTGGGAAGGAGATACCG -3'
Sequencing Primer
(F):5'- CCATACTTGGGAGCTTGTGAAGAAG -3'
(R):5'- GGAGATACCGAAGTCCCTCAG -3'
|
| Posted On |
2016-11-21 |
Incidental Mutation