Incidental Mutation 'R2121:Akna'
| ID |
231440 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Akna
|
| Ensembl Gene |
ENSMUSG00000039158 |
| Gene Name |
AT-hook transcription factor |
| Synonyms |
|
| MMRRC Submission |
040125-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.094)
|
| Stock # |
R2121 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
4 |
| Chromosomal Location |
63285362-63321591 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 63295137 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Isoleucine
at position 1024
(T1024I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000041614
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000035724]
|
| AlphaFold |
Q80VW7 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000035724
AA Change: T1024I
PolyPhen 2
Score 0.078 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000041614
Gene: ENSMUSG00000039158
AA Change: T1024I
| 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: ENSMUST00000140586
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000144095
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 97.2%
- 20x: 95.1%
|
| 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: 65 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcg5 |
T |
A |
17: 84,978,575 (GRCm39) |
E294D |
probably benign |
Het |
| Adnp2 |
A |
G |
18: 80,172,385 (GRCm39) |
F675L |
probably benign |
Het |
| Ambn |
T |
A |
5: 88,608,617 (GRCm39) |
|
probably benign |
Het |
| Aox3 |
T |
C |
1: 58,191,708 (GRCm39) |
|
probably benign |
Het |
| Arhgef10 |
A |
G |
8: 14,984,820 (GRCm39) |
D200G |
probably damaging |
Het |
| Arhgef26 |
A |
T |
3: 62,247,704 (GRCm39) |
N263Y |
probably damaging |
Het |
| Arpp21 |
A |
G |
9: 111,965,738 (GRCm39) |
S375P |
probably damaging |
Het |
| Bscl2 |
G |
T |
19: 8,817,146 (GRCm39) |
E25* |
probably null |
Het |
| Ccl12 |
T |
A |
11: 81,992,776 (GRCm39) |
S17R |
probably damaging |
Het |
| Cdh1 |
A |
G |
8: 107,390,842 (GRCm39) |
I653V |
probably benign |
Het |
| Ceacam9 |
T |
A |
7: 16,455,928 (GRCm39) |
F12I |
probably benign |
Het |
| Cfap47 |
T |
C |
X: 78,553,927 (GRCm39) |
I267V |
probably benign |
Het |
| Cldn23 |
A |
G |
8: 36,293,389 (GRCm39) |
V33A |
probably benign |
Het |
| Cog1 |
T |
C |
11: 113,540,424 (GRCm39) |
L13P |
probably damaging |
Het |
| Col20a1 |
G |
C |
2: 180,638,249 (GRCm39) |
A346P |
probably damaging |
Het |
| Col6a3 |
T |
C |
1: 90,738,087 (GRCm39) |
D537G |
probably damaging |
Het |
| Ctnnd2 |
G |
A |
15: 30,669,660 (GRCm39) |
R423H |
probably damaging |
Het |
| Cyp2a12 |
A |
G |
7: 26,736,071 (GRCm39) |
*493W |
probably null |
Het |
| Dcdc2a |
T |
G |
13: 25,303,268 (GRCm39) |
S266R |
possibly damaging |
Het |
| Diaph1 |
A |
T |
18: 38,029,442 (GRCm39) |
M330K |
unknown |
Het |
| Dnah5 |
C |
T |
15: 28,297,151 (GRCm39) |
|
probably benign |
Het |
| F13a1 |
T |
A |
13: 37,209,653 (GRCm39) |
Y104F |
probably benign |
Het |
| Fam78b |
G |
A |
1: 166,906,278 (GRCm39) |
V146M |
probably damaging |
Het |
| Fancl |
G |
T |
11: 26,409,841 (GRCm39) |
|
probably benign |
Het |
| Gm10477 |
A |
G |
X: 55,570,192 (GRCm39) |
K31E |
probably damaging |
Het |
| Gstm7 |
T |
C |
3: 107,834,230 (GRCm39) |
M175V |
probably benign |
Het |
| Hcn4 |
T |
C |
9: 58,731,341 (GRCm39) |
S183P |
unknown |
Het |
| Heatr1 |
T |
C |
13: 12,418,145 (GRCm39) |
V359A |
probably benign |
Het |
| Ikbkb |
T |
C |
8: 23,157,233 (GRCm39) |
|
probably benign |
Het |
| Ints6l |
T |
A |
X: 55,550,228 (GRCm39) |
S718T |
probably benign |
Het |
| Kctd5 |
T |
C |
17: 24,274,940 (GRCm39) |
T212A |
probably benign |
Het |
| Kdm3b |
T |
C |
18: 34,929,833 (GRCm39) |
|
probably benign |
Het |
| Ltbp1 |
T |
A |
17: 75,617,154 (GRCm39) |
V1031E |
possibly damaging |
Het |
| Lyst |
A |
G |
13: 13,835,556 (GRCm39) |
Y1746C |
probably damaging |
Het |
| Mageb5 |
A |
G |
X: 90,823,701 (GRCm39) |
I226T |
probably damaging |
Het |
| Mdc1 |
C |
T |
17: 36,158,835 (GRCm39) |
A405V |
probably benign |
Het |
| Mlc1 |
A |
G |
15: 88,847,634 (GRCm39) |
Y305H |
probably benign |
Het |
| Mtcl2 |
T |
C |
2: 156,875,245 (GRCm39) |
E835G |
probably damaging |
Het |
| Muc4 |
A |
G |
16: 32,580,612 (GRCm39) |
Y2474C |
unknown |
Het |
| Mybphl |
A |
C |
3: 108,282,492 (GRCm39) |
N175T |
probably damaging |
Het |
| Ncbp3 |
T |
C |
11: 72,944,304 (GRCm39) |
V102A |
possibly damaging |
Het |
| Neb |
A |
G |
2: 52,154,076 (GRCm39) |
F2345S |
probably damaging |
Het |
| Nlrp6 |
T |
C |
7: 140,506,357 (GRCm39) |
V766A |
probably benign |
Het |
| Odad4 |
T |
A |
11: 100,457,837 (GRCm39) |
|
probably null |
Het |
| Or7e173 |
T |
G |
9: 19,938,797 (GRCm39) |
I146L |
probably benign |
Het |
| Or8j3 |
T |
A |
2: 86,028,340 (GRCm39) |
Y252F |
possibly damaging |
Het |
| Palb2 |
T |
C |
7: 121,727,004 (GRCm39) |
T289A |
possibly damaging |
Het |
| Pde10a |
A |
T |
17: 9,196,047 (GRCm39) |
Q657L |
probably damaging |
Het |
| Ppp2r2a |
A |
T |
14: 67,260,577 (GRCm39) |
F234I |
probably damaging |
Het |
| Prl3c1 |
T |
A |
13: 27,383,325 (GRCm39) |
|
probably null |
Het |
| Psg20 |
T |
A |
7: 18,414,947 (GRCm39) |
Y316F |
probably benign |
Het |
| Sap18 |
T |
A |
14: 58,036,011 (GRCm39) |
S66T |
probably damaging |
Het |
| Serpina3m |
A |
G |
12: 104,355,941 (GRCm39) |
M203V |
possibly damaging |
Het |
| Slc6a21 |
A |
T |
7: 44,937,886 (GRCm39) |
I726F |
probably benign |
Het |
| Spmap2l |
A |
T |
5: 77,208,605 (GRCm39) |
I378L |
probably benign |
Het |
| Syt10 |
C |
T |
15: 89,674,979 (GRCm39) |
D456N |
probably damaging |
Het |
| Tfdp2 |
T |
C |
9: 96,177,067 (GRCm39) |
S75P |
probably damaging |
Het |
| Tll1 |
T |
C |
8: 64,538,591 (GRCm39) |
E351G |
probably benign |
Het |
| Tmed11 |
G |
A |
5: 108,943,198 (GRCm39) |
|
probably benign |
Het |
| Tmem81 |
C |
A |
1: 132,435,847 (GRCm39) |
Q218K |
probably benign |
Het |
| Tnfsf11 |
G |
A |
14: 78,537,333 (GRCm39) |
T110I |
probably benign |
Het |
| Tub |
G |
A |
7: 108,625,944 (GRCm39) |
G232S |
probably damaging |
Het |
| Vmn2r121 |
A |
T |
X: 123,043,439 (GRCm39) |
|
probably null |
Het |
| Vwa5b1 |
T |
C |
4: 138,315,880 (GRCm39) |
T621A |
probably benign |
Het |
| Ythdf3 |
T |
C |
3: 16,259,356 (GRCm39) |
F501S |
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 |
|
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 |
|
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'- GCAGCTTGAATGTGTAAGCTAG -3'
(R):5'- TGCAAGGACACCAGTAGCTC -3'
Sequencing Primer
(F):5'- TGTAAGCTAGGGGCACTGC -3'
(R):5'- ACACCAGTAGCTCTCGCG -3'
|
| Posted On |
2014-09-18 |
Incidental Mutation