Incidental Mutation 'R5546:Akna'
| ID |
436271 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Akna
|
| Ensembl Gene |
ENSMUSG00000039158 |
| Gene Name |
AT-hook transcription factor |
| Synonyms |
|
| MMRRC Submission |
043104-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.094)
|
| Stock # |
R5546 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
4 |
| Chromosomal Location |
63285362-63321591 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 63313803 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Aspartic acid
at position 107
(N107D)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000041614
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000035724]
|
| AlphaFold |
Q80VW7 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000035724
AA Change: N107D
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000041614
Gene: ENSMUSG00000039158
AA Change: N107D
| 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: 99.9%
- 3x: 99.6%
- 10x: 98.2%
- 20x: 94.5%
|
| 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: 63 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Actl11 |
A |
G |
9: 107,806,832 (GRCm39) |
N385S |
probably benign |
Het |
| Ahctf1 |
A |
T |
1: 179,581,633 (GRCm39) |
I1523N |
probably benign |
Het |
| Arhgef15 |
G |
A |
11: 68,844,877 (GRCm39) |
P240L |
probably benign |
Het |
| Brd1 |
T |
A |
15: 88,585,325 (GRCm39) |
E836D |
probably benign |
Het |
| Brf2 |
A |
G |
8: 27,614,311 (GRCm39) |
S292P |
possibly damaging |
Het |
| C3 |
A |
G |
17: 57,529,976 (GRCm39) |
L500P |
probably damaging |
Het |
| Cblif |
T |
C |
19: 11,725,859 (GRCm39) |
S50P |
possibly damaging |
Het |
| Ccdc107 |
T |
C |
4: 43,495,685 (GRCm39) |
L196P |
probably damaging |
Het |
| Cdcp1 |
G |
T |
9: 123,007,094 (GRCm39) |
P551Q |
probably damaging |
Het |
| Ckap5 |
T |
C |
2: 91,425,161 (GRCm39) |
L1224P |
probably damaging |
Het |
| Csnk1g2 |
C |
A |
10: 80,474,232 (GRCm39) |
T178K |
probably benign |
Het |
| Ctsq |
A |
T |
13: 61,185,702 (GRCm39) |
C146* |
probably null |
Het |
| Cyp2ab1 |
T |
A |
16: 20,132,507 (GRCm39) |
I264F |
probably damaging |
Het |
| Daxx |
TGATGATGACGATGATGACGATGATGA |
TGATGATGACGATGATGA |
17: 34,131,615 (GRCm39) |
|
probably benign |
Het |
| Dnah11 |
G |
A |
12: 117,939,583 (GRCm39) |
T3179M |
possibly damaging |
Het |
| Dnah7c |
A |
T |
1: 46,705,477 (GRCm39) |
T2497S |
probably damaging |
Het |
| Eif4enif1 |
T |
C |
11: 3,193,989 (GRCm39) |
V776A |
probably damaging |
Het |
| Erbb4 |
G |
T |
1: 68,337,452 (GRCm39) |
T622N |
probably damaging |
Het |
| Erich6 |
A |
G |
3: 58,526,218 (GRCm39) |
Y595H |
probably benign |
Het |
| Fam107a |
C |
T |
14: 8,298,764 (GRCm38) |
A121T |
probably benign |
Het |
| Gpatch11 |
C |
T |
17: 79,149,548 (GRCm39) |
Q183* |
probably null |
Het |
| Gpr161 |
C |
A |
1: 165,133,982 (GRCm39) |
F81L |
possibly damaging |
Het |
| Hook1 |
G |
T |
4: 95,890,765 (GRCm39) |
E291D |
probably benign |
Het |
| Hsf2bp |
T |
A |
17: 32,165,669 (GRCm39) |
I309F |
probably damaging |
Het |
| Hspg2 |
T |
C |
4: 137,275,485 (GRCm39) |
|
probably null |
Het |
| Ide |
T |
G |
19: 37,249,623 (GRCm39) |
M910L |
unknown |
Het |
| Igdcc4 |
A |
G |
9: 65,036,077 (GRCm39) |
Y712C |
probably damaging |
Het |
| Kmt2d |
T |
C |
15: 98,750,949 (GRCm39) |
|
probably benign |
Het |
| Lats1 |
T |
C |
10: 7,581,518 (GRCm39) |
Y768H |
probably damaging |
Het |
| Mageb3 |
A |
G |
2: 121,784,868 (GRCm39) |
V278A |
probably damaging |
Het |
| Mapkbp1 |
G |
A |
2: 119,849,724 (GRCm39) |
R732H |
probably damaging |
Het |
| Marveld2 |
T |
C |
13: 100,737,446 (GRCm39) |
I148V |
probably benign |
Het |
| Mast1 |
G |
C |
8: 85,642,889 (GRCm39) |
P969A |
probably damaging |
Het |
| Myh10 |
T |
G |
11: 68,689,206 (GRCm39) |
V1261G |
possibly damaging |
Het |
| Nlrp1b |
A |
T |
11: 71,108,102 (GRCm39) |
H466Q |
probably benign |
Het |
| Npr2 |
T |
G |
4: 43,650,150 (GRCm39) |
V905G |
probably damaging |
Het |
| Oip5 |
T |
A |
2: 119,440,808 (GRCm39) |
I240F |
unknown |
Het |
| Or4c12 |
A |
G |
2: 89,773,929 (GRCm39) |
C177R |
probably damaging |
Het |
| Or5k8 |
G |
T |
16: 58,644,516 (GRCm39) |
Y185* |
probably null |
Het |
| Or8b12 |
T |
A |
9: 37,657,820 (GRCm39) |
M130K |
probably benign |
Het |
| Pcsk2 |
G |
A |
2: 143,388,480 (GRCm39) |
A24T |
probably benign |
Het |
| Plxnb1 |
G |
T |
9: 108,929,818 (GRCm39) |
G225W |
probably damaging |
Het |
| Polr1a |
T |
C |
6: 71,906,350 (GRCm39) |
S389P |
possibly damaging |
Het |
| Prkca |
A |
G |
11: 107,944,806 (GRCm39) |
V175A |
probably benign |
Het |
| Rassf7 |
C |
A |
7: 140,796,973 (GRCm39) |
|
probably null |
Het |
| Rbl2 |
A |
G |
8: 91,805,560 (GRCm39) |
I206V |
probably benign |
Het |
| Rnf111 |
A |
T |
9: 70,366,378 (GRCm39) |
H353Q |
probably benign |
Het |
| Rpn1 |
T |
G |
6: 88,070,841 (GRCm39) |
V237G |
probably damaging |
Het |
| Sec61a2 |
T |
A |
2: 5,881,351 (GRCm39) |
I267F |
possibly damaging |
Het |
| Spop |
G |
T |
11: 95,376,669 (GRCm39) |
V241F |
probably damaging |
Het |
| Sptbn2 |
C |
T |
19: 4,775,978 (GRCm39) |
A178V |
probably damaging |
Het |
| Stard13 |
A |
G |
5: 150,969,366 (GRCm39) |
Y791H |
probably benign |
Het |
| Susd2 |
T |
A |
10: 75,478,052 (GRCm39) |
I113L |
probably benign |
Het |
| Tcof1 |
T |
C |
18: 60,964,628 (GRCm39) |
E666G |
possibly damaging |
Het |
| Tekt5 |
G |
T |
16: 10,179,254 (GRCm39) |
A371E |
possibly damaging |
Het |
| Thap11 |
G |
A |
8: 106,582,548 (GRCm39) |
E186K |
probably damaging |
Het |
| Tk2 |
A |
T |
8: 104,974,315 (GRCm39) |
D45E |
possibly damaging |
Het |
| Tuba8 |
C |
A |
6: 121,199,872 (GRCm39) |
Y185* |
probably null |
Het |
| Usp24 |
T |
A |
4: 106,273,244 (GRCm39) |
Y2210N |
probably damaging |
Het |
| Wfdc8 |
A |
T |
2: 164,439,239 (GRCm39) |
|
probably benign |
Het |
| Zar1l |
T |
C |
5: 150,436,365 (GRCm39) |
N237S |
probably damaging |
Het |
| Zfp607b |
A |
T |
7: 27,402,032 (GRCm39) |
T163S |
probably benign |
Het |
| Zfp619 |
C |
A |
7: 39,184,577 (GRCm39) |
H202Q |
probably benign |
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 |
63,313,196 (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'- TCGAGATGCTCTGAAGGTCTG -3'
(R):5'- ACATAAGTACCTGGTTATGTGGGG -3'
Sequencing Primer
(F):5'- CTCTGAAGGTCTGTAGTTACTGCC -3'
(R):5'- GTGGCCCTAGGTTCTTGTCC -3'
|
| Posted On |
2016-10-24 |
Incidental Mutation