Incidental Mutation 'R5276:Akna'
ID |
403926 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Akna
|
Ensembl Gene |
ENSMUSG00000039158 |
Gene Name |
AT-hook transcription factor |
Synonyms |
|
MMRRC Submission |
042863-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.081)
|
Stock # |
R5276 (G1)
|
Quality Score |
216 |
Status
|
Not validated
|
Chromosome |
4 |
Chromosomal Location |
63285362-63321591 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to C
at 63286440 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Glycine
at position 1353
(V1353G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000041614
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000035724]
[ENSMUST00000075341]
|
AlphaFold |
Q80VW7 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000035724
AA Change: V1353G
PolyPhen 2
Score 0.953 (Sensitivity: 0.79; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000041614 Gene: ENSMUSG00000039158 AA Change: V1353G
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 |
probably benign
Transcript: ENSMUST00000075341
|
SMART Domains |
Protein: ENSMUSP00000074810 Gene: ENSMUSG00000061540
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
18 |
N/A |
INTRINSIC |
Pfam:Lipocalin
|
41 |
181 |
1.5e-23 |
PFAM |
low complexity region
|
186 |
200 |
N/A |
INTRINSIC |
|
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.3%
|
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: 64 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adam26a |
A |
G |
8: 44,023,457 (GRCm39) |
F11S |
probably benign |
Het |
Adipor2 |
T |
A |
6: 119,334,182 (GRCm39) |
I343F |
probably damaging |
Het |
Ahdc1 |
C |
T |
4: 132,790,109 (GRCm39) |
P450L |
possibly damaging |
Het |
Baz2b |
G |
A |
2: 59,792,958 (GRCm39) |
T390I |
probably benign |
Het |
Btbd7 |
T |
C |
12: 102,804,651 (GRCm39) |
K130E |
probably benign |
Het |
Cdc42bpa |
A |
G |
1: 179,965,415 (GRCm39) |
Y1101C |
probably damaging |
Het |
Crlf2 |
T |
G |
5: 109,705,501 (GRCm39) |
|
probably benign |
Het |
Ddx59 |
A |
T |
1: 136,347,186 (GRCm39) |
R281S |
probably damaging |
Het |
Dgcr8 |
T |
G |
16: 18,101,635 (GRCm39) |
T216P |
probably benign |
Het |
Dsg4 |
A |
T |
18: 20,579,896 (GRCm39) |
I34F |
probably benign |
Het |
Enpp3 |
A |
G |
10: 24,685,814 (GRCm39) |
S194P |
probably damaging |
Het |
Entpd8 |
C |
T |
2: 24,975,057 (GRCm39) |
R463W |
probably benign |
Het |
Fam169a |
A |
G |
13: 97,255,004 (GRCm39) |
T407A |
probably benign |
Het |
Fam98b |
G |
T |
2: 117,089,779 (GRCm39) |
V99F |
possibly damaging |
Het |
Foxn3 |
T |
A |
12: 99,162,687 (GRCm39) |
K405* |
probably null |
Het |
Gsdmc |
T |
C |
15: 63,673,806 (GRCm39) |
T160A |
probably benign |
Het |
Hdac1 |
T |
C |
4: 129,422,716 (GRCm39) |
|
probably null |
Het |
Igfbp1 |
A |
C |
11: 7,151,892 (GRCm39) |
T232P |
probably damaging |
Het |
Lcor |
T |
A |
19: 41,573,478 (GRCm39) |
H744Q |
probably damaging |
Het |
Mertk |
G |
C |
2: 128,643,234 (GRCm39) |
G878R |
possibly damaging |
Het |
Metap2 |
G |
T |
10: 93,704,784 (GRCm39) |
P281H |
possibly damaging |
Het |
Metap2 |
T |
A |
10: 93,704,794 (GRCm39) |
T278S |
probably benign |
Het |
Mfn1 |
T |
C |
3: 32,618,354 (GRCm39) |
V169A |
probably benign |
Het |
Mms22l |
A |
G |
4: 24,578,774 (GRCm39) |
D751G |
probably damaging |
Het |
Mpl |
A |
G |
4: 118,312,918 (GRCm39) |
V138A |
probably benign |
Het |
Myef2 |
T |
A |
2: 124,937,641 (GRCm39) |
K533N |
probably damaging |
Het |
Mylk3 |
C |
T |
8: 86,082,071 (GRCm39) |
G309E |
probably damaging |
Het |
Nid1 |
T |
C |
13: 13,643,157 (GRCm39) |
V365A |
probably damaging |
Het |
Or4d2 |
A |
T |
11: 87,784,018 (GRCm39) |
I244N |
probably damaging |
Het |
Or5p57 |
A |
T |
7: 107,665,423 (GRCm39) |
L164* |
probably null |
Het |
Or7d10 |
C |
A |
9: 19,831,917 (GRCm39) |
N137K |
possibly damaging |
Het |
Or8g19 |
T |
C |
9: 39,055,611 (GRCm39) |
C72R |
probably damaging |
Het |
Pbrm1 |
A |
G |
14: 30,828,141 (GRCm39) |
K1323E |
probably damaging |
Het |
Pcdhga12 |
G |
A |
18: 37,899,728 (GRCm39) |
D187N |
possibly damaging |
Het |
Phrf1 |
T |
C |
7: 140,839,196 (GRCm39) |
|
probably benign |
Het |
Phtf2 |
A |
G |
5: 20,977,195 (GRCm39) |
V608A |
probably benign |
Het |
Plec |
G |
A |
15: 76,057,638 (GRCm39) |
R4122W |
probably damaging |
Het |
Polm |
A |
G |
11: 5,779,393 (GRCm39) |
S441P |
probably benign |
Het |
Prrc2b |
T |
A |
2: 32,104,734 (GRCm39) |
V1404E |
probably benign |
Het |
Ptger1 |
T |
G |
8: 84,395,974 (GRCm39) |
S344A |
possibly damaging |
Het |
Rasef |
A |
T |
4: 73,654,004 (GRCm39) |
D401E |
probably null |
Het |
Rbfox3 |
T |
C |
11: 118,387,178 (GRCm39) |
Y312C |
probably damaging |
Het |
Rbm48 |
A |
G |
5: 3,634,759 (GRCm39) |
C402R |
probably benign |
Het |
Rhbdl3 |
G |
A |
11: 80,210,492 (GRCm39) |
A82T |
probably benign |
Het |
Rnf123 |
AT |
ATT |
9: 107,941,202 (GRCm39) |
|
probably null |
Het |
Sfi1 |
A |
ATCTTCCCAAAGCCAGTGC |
11: 3,103,384 (GRCm39) |
|
probably benign |
Homo |
Sidt2 |
T |
A |
9: 45,866,075 (GRCm39) |
N44Y |
probably damaging |
Het |
Slf2 |
T |
A |
19: 44,923,600 (GRCm39) |
L138Q |
possibly damaging |
Het |
Spag16 |
T |
C |
1: 69,935,742 (GRCm39) |
|
probably null |
Het |
Sspo |
C |
T |
6: 48,467,401 (GRCm39) |
P4188S |
probably damaging |
Het |
Synm |
C |
T |
7: 67,384,437 (GRCm39) |
S1075N |
probably benign |
Het |
Tacc2 |
G |
T |
7: 130,331,047 (GRCm39) |
D2151Y |
probably damaging |
Het |
Tbc1d32 |
C |
A |
10: 56,027,914 (GRCm39) |
L729F |
probably damaging |
Het |
Tnfsf4 |
A |
G |
1: 161,244,584 (GRCm39) |
N91S |
possibly damaging |
Het |
Trim63 |
G |
A |
4: 134,050,444 (GRCm39) |
E243K |
probably benign |
Het |
Trim72 |
T |
G |
7: 127,603,714 (GRCm39) |
L20R |
probably damaging |
Het |
Tubb1 |
A |
G |
2: 174,299,217 (GRCm39) |
M300V |
probably damaging |
Het |
Ubfd1 |
C |
T |
7: 121,668,091 (GRCm39) |
A207V |
probably damaging |
Het |
Usp16 |
T |
A |
16: 87,267,339 (GRCm39) |
|
probably null |
Het |
Vmn2r23 |
A |
G |
6: 123,689,936 (GRCm39) |
T271A |
possibly damaging |
Het |
Vmn2r72 |
T |
A |
7: 85,387,462 (GRCm39) |
I701F |
possibly damaging |
Het |
Wdfy4 |
A |
G |
14: 32,769,232 (GRCm39) |
Y2078H |
probably damaging |
Het |
Wdr41 |
T |
C |
13: 95,153,958 (GRCm39) |
|
probably null |
Het |
Zfp955b |
A |
G |
17: 33,522,031 (GRCm39) |
Y500C |
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 |
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'- TTGACTGGGAAACAACAGCG -3'
(R):5'- GTTTCTCCACAGTGGCCTTG -3'
Sequencing Primer
(F):5'- ACTTAGTCTCAGAGTCTCCAGGGAG -3'
(R):5'- TCCACAGTGGCCTTGGACAG -3'
|
Posted On |
2016-07-22 |