Incidental Mutation 'R5966:Akna'
| ID |
472082 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Akna
|
| Ensembl Gene |
ENSMUSG00000039158 |
| Gene Name |
AT-hook transcription factor |
| Synonyms |
|
| MMRRC Submission |
044151-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.081)
|
| Stock # |
R5966 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
4 |
| Chromosomal Location |
63285362-63321591 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 63313140 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 328
(S328P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000041614
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000035724]
|
| AlphaFold |
Q80VW7 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000035724
AA Change: S328P
PolyPhen 2
Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000041614
Gene: ENSMUSG00000039158
AA Change: S328P
| 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 |
0.0929 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.2%
- 20x: 94.5%
|
| Validation Efficiency |
94% (79/84) |
| 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: 71 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A930009A15Rik |
A |
T |
10: 115,415,717 (GRCm39) |
|
probably benign |
Het |
| Acaa2 |
T |
C |
18: 74,937,223 (GRCm39) |
L369S |
probably damaging |
Het |
| Albfm1 |
A |
G |
5: 90,719,546 (GRCm39) |
Y214C |
probably damaging |
Het |
| Apc |
A |
G |
18: 34,354,140 (GRCm39) |
|
probably benign |
Het |
| Brca2 |
C |
T |
5: 150,466,716 (GRCm39) |
T2160I |
probably damaging |
Het |
| Camsap2 |
A |
G |
1: 136,204,330 (GRCm39) |
S1251P |
probably damaging |
Het |
| Ccdc110 |
A |
G |
8: 46,395,573 (GRCm39) |
E488G |
probably damaging |
Het |
| Ccdc158 |
T |
A |
5: 92,797,908 (GRCm39) |
I411F |
probably damaging |
Het |
| Cd163 |
C |
T |
6: 124,297,595 (GRCm39) |
Q914* |
probably null |
Het |
| Cd22 |
T |
C |
7: 30,566,083 (GRCm39) |
D827G |
probably damaging |
Het |
| Ces1e |
A |
G |
8: 93,946,001 (GRCm39) |
|
probably null |
Het |
| Col14a1 |
T |
C |
15: 55,315,779 (GRCm39) |
|
probably null |
Het |
| Csmd3 |
T |
A |
15: 47,713,135 (GRCm39) |
D1509V |
probably damaging |
Het |
| Ddx51 |
A |
G |
5: 110,804,717 (GRCm39) |
D543G |
probably damaging |
Het |
| Diaph3 |
T |
A |
14: 87,222,261 (GRCm39) |
I408F |
probably damaging |
Het |
| Dld |
G |
A |
12: 31,390,325 (GRCm39) |
P213L |
probably damaging |
Het |
| Dnah6 |
T |
C |
6: 73,037,262 (GRCm39) |
T3327A |
probably benign |
Het |
| Dnttip2 |
T |
A |
3: 122,078,817 (GRCm39) |
|
probably benign |
Het |
| Dock10 |
T |
C |
1: 80,546,225 (GRCm39) |
E791G |
possibly damaging |
Het |
| Ehd3 |
G |
T |
17: 74,134,356 (GRCm39) |
W238C |
probably damaging |
Het |
| Ehd3 |
T |
G |
17: 74,134,361 (GRCm39) |
L240R |
probably damaging |
Het |
| Ep400 |
A |
G |
5: 110,824,766 (GRCm39) |
V2357A |
unknown |
Het |
| Fam20c |
T |
C |
5: 138,741,932 (GRCm39) |
V181A |
probably damaging |
Het |
| Gm4781 |
T |
C |
10: 100,232,814 (GRCm39) |
|
noncoding transcript |
Het |
| Gpatch8 |
A |
T |
11: 102,371,058 (GRCm39) |
S827T |
unknown |
Het |
| Grm3 |
A |
T |
5: 9,561,930 (GRCm39) |
I640N |
probably damaging |
Het |
| Gstm7 |
A |
G |
3: 107,838,747 (GRCm39) |
|
probably benign |
Het |
| Hdac7 |
G |
T |
15: 97,700,372 (GRCm39) |
H572Q |
probably damaging |
Het |
| Ift140 |
C |
T |
17: 25,313,735 (GRCm39) |
Q1389* |
probably null |
Het |
| Igfn1 |
A |
G |
1: 135,893,152 (GRCm39) |
V2099A |
probably damaging |
Het |
| Ik |
A |
G |
18: 36,888,531 (GRCm39) |
N443S |
possibly damaging |
Het |
| Impact |
A |
G |
18: 13,123,601 (GRCm39) |
K315E |
probably benign |
Het |
| Insr |
C |
A |
8: 3,308,697 (GRCm39) |
R113L |
probably benign |
Het |
| Jak2 |
T |
A |
19: 29,260,954 (GRCm39) |
Y317N |
possibly damaging |
Het |
| Kif18a |
T |
A |
2: 109,122,411 (GRCm39) |
V162E |
probably damaging |
Het |
| L3mbtl3 |
A |
G |
10: 26,207,762 (GRCm39) |
V319A |
unknown |
Het |
| Lepr |
T |
C |
4: 101,649,324 (GRCm39) |
|
probably benign |
Het |
| Lmo7 |
C |
T |
14: 102,137,938 (GRCm39) |
T647I |
possibly damaging |
Het |
| Mindy3 |
C |
T |
2: 12,405,854 (GRCm39) |
R147Q |
probably benign |
Het |
| Mtr |
T |
C |
13: 12,230,453 (GRCm39) |
|
probably null |
Het |
| Muc4 |
A |
T |
16: 32,576,652 (GRCm39) |
|
probably benign |
Het |
| Nrip1 |
G |
A |
16: 76,090,471 (GRCm39) |
T362M |
possibly damaging |
Het |
| Or1j17 |
G |
T |
2: 36,578,074 (GRCm39) |
R20L |
probably null |
Het |
| Or1q1 |
T |
C |
2: 36,886,957 (GRCm39) |
I45T |
possibly damaging |
Het |
| Or5d45 |
A |
G |
2: 88,153,222 (GRCm39) |
S276P |
probably benign |
Het |
| Ovol1 |
G |
A |
19: 5,601,630 (GRCm39) |
R131C |
probably damaging |
Het |
| Pcca |
T |
C |
14: 122,905,998 (GRCm39) |
V323A |
probably damaging |
Het |
| Pcdhb14 |
A |
T |
18: 37,581,295 (GRCm39) |
M134L |
probably benign |
Het |
| Pecam1 |
G |
A |
11: 106,581,887 (GRCm39) |
T252M |
probably benign |
Het |
| Rnd3 |
T |
A |
2: 51,022,536 (GRCm39) |
I169F |
probably damaging |
Het |
| Rnmt |
T |
A |
18: 68,444,689 (GRCm39) |
D219E |
probably benign |
Het |
| Rufy1 |
A |
T |
11: 50,292,315 (GRCm39) |
F491L |
probably benign |
Het |
| Ryr2 |
G |
T |
13: 11,677,124 (GRCm39) |
C3242* |
probably null |
Het |
| Smurf2 |
G |
T |
11: 106,766,727 (GRCm39) |
R31S |
possibly damaging |
Het |
| Sptbn1 |
A |
G |
11: 30,074,873 (GRCm39) |
I1333T |
probably damaging |
Het |
| Stard9 |
G |
A |
2: 120,527,580 (GRCm39) |
C1279Y |
probably damaging |
Het |
| Sugp2 |
T |
C |
8: 70,704,753 (GRCm39) |
|
probably null |
Het |
| Sulf1 |
A |
T |
1: 12,929,636 (GRCm39) |
D301V |
probably benign |
Het |
| Tbcd |
G |
T |
11: 121,492,737 (GRCm39) |
|
probably benign |
Het |
| Tlr11 |
T |
C |
14: 50,599,712 (GRCm39) |
I566T |
probably benign |
Het |
| Tm9sf2 |
T |
A |
14: 122,374,921 (GRCm39) |
|
probably benign |
Het |
| Tnfaip8l1 |
T |
C |
17: 56,478,799 (GRCm39) |
F30L |
probably benign |
Het |
| Trav15-2-dv6-2 |
T |
A |
14: 53,887,433 (GRCm39) |
C118S |
probably damaging |
Het |
| Ttc13 |
A |
G |
8: 125,408,959 (GRCm39) |
|
probably benign |
Het |
| Ubqln3 |
A |
T |
7: 103,790,906 (GRCm39) |
S395T |
probably benign |
Het |
| Urb2 |
A |
G |
8: 124,754,827 (GRCm39) |
D178G |
probably benign |
Het |
| Usf3 |
A |
G |
16: 44,041,222 (GRCm39) |
I1901V |
probably benign |
Het |
| Vmn1r173 |
A |
T |
7: 23,402,112 (GRCm39) |
I116F |
probably benign |
Het |
| Vmn1r69 |
T |
A |
7: 10,314,717 (GRCm39) |
T5S |
probably benign |
Het |
| Wbp1l |
C |
T |
19: 46,642,619 (GRCm39) |
R191* |
probably null |
Het |
| Wfikkn2 |
C |
T |
11: 94,129,688 (GRCm39) |
R151H |
probably 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 |
|
R5773:Akna
|
UTSW |
4 |
63,313,307 (GRCm39) |
missense |
probably benign |
0.41 |
|
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'- CGACTTGAAGATGAGGGGTC -3'
(R):5'- GAATTCCGGGACTCCTTAGC -3'
Sequencing Primer
(F):5'- CTGGTAGAGCCTTGTTGCC -3'
(R):5'- AGAATGCCGAGTGCTCTG -3'
|
| Posted On |
2017-03-31 |
Incidental Mutation