Incidental Mutation 'R6800:Akna'
| ID |
533258 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Akna
|
| Ensembl Gene |
ENSMUSG00000039158 |
| Gene Name |
AT-hook transcription factor |
| Synonyms |
|
| MMRRC Submission |
044913-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.081)
|
| Stock # |
R6800 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
4 |
| Chromosomal Location |
63285362-63321591 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 63316268 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 32
(T32A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000041614
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000035724]
|
| AlphaFold |
Q80VW7 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000035724
AA Change: T32A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000041614
Gene: ENSMUSG00000039158
AA Change: T32A
| 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 |
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.6%
- 20x: 96.4%
|
| Validation Efficiency |
97% (66/68) |
| 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: 67 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930486L24Rik |
G |
A |
13: 60,992,948 (GRCm39) |
P244S |
probably damaging |
Het |
| 9130023H24Rik |
C |
A |
7: 127,836,742 (GRCm39) |
|
probably benign |
Het |
| Acoxl |
A |
T |
2: 127,852,085 (GRCm39) |
Q129L |
probably damaging |
Het |
| Alox15 |
C |
T |
11: 70,235,645 (GRCm39) |
|
probably null |
Het |
| Antxrl |
T |
C |
14: 33,787,864 (GRCm39) |
S296P |
probably damaging |
Het |
| Arrb2 |
G |
T |
11: 70,328,142 (GRCm39) |
G52* |
probably null |
Het |
| Bltp2 |
T |
C |
11: 78,179,105 (GRCm39) |
F2091S |
probably benign |
Het |
| Capn2 |
A |
T |
1: 182,309,045 (GRCm39) |
I499N |
probably damaging |
Het |
| Cfhr4 |
T |
A |
1: 139,629,719 (GRCm39) |
D683V |
possibly damaging |
Het |
| Cspg4b |
T |
A |
13: 113,504,686 (GRCm39) |
D396E |
probably benign |
Het |
| Cubn |
T |
A |
2: 13,326,066 (GRCm39) |
I2700F |
probably damaging |
Het |
| Cypt4 |
A |
T |
9: 24,536,965 (GRCm39) |
N152Y |
probably benign |
Het |
| Dmxl2 |
T |
C |
9: 54,316,467 (GRCm39) |
N1640D |
probably damaging |
Het |
| Dnah7b |
A |
T |
1: 46,379,377 (GRCm39) |
N3704Y |
possibly damaging |
Het |
| Dnah9 |
A |
G |
11: 65,963,565 (GRCm39) |
|
probably null |
Het |
| Elac2 |
G |
A |
11: 64,890,265 (GRCm39) |
|
probably null |
Het |
| Erich3 |
A |
T |
3: 154,433,029 (GRCm39) |
|
probably null |
Het |
| Espnl |
T |
C |
1: 91,270,351 (GRCm39) |
V386A |
probably damaging |
Het |
| Fbxl6 |
T |
A |
15: 76,422,898 (GRCm39) |
|
probably benign |
Het |
| Fdps |
A |
C |
3: 89,008,068 (GRCm39) |
F17V |
probably damaging |
Het |
| Gigyf2 |
T |
C |
1: 87,346,898 (GRCm39) |
I576T |
possibly damaging |
Het |
| Gm20939 |
A |
G |
17: 95,184,657 (GRCm39) |
E435G |
possibly damaging |
Het |
| Hivep1 |
G |
A |
13: 42,310,852 (GRCm39) |
V1031I |
probably damaging |
Het |
| Hydin |
T |
G |
8: 111,324,603 (GRCm39) |
S4655A |
probably benign |
Het |
| Ifrd1 |
T |
A |
12: 40,273,157 (GRCm39) |
|
probably benign |
Het |
| Iqgap1 |
G |
T |
7: 80,378,729 (GRCm39) |
T1219K |
possibly damaging |
Het |
| Lmtk3 |
G |
A |
7: 45,443,233 (GRCm39) |
E639K |
possibly damaging |
Het |
| Map3k5 |
A |
G |
10: 20,017,326 (GRCm39) |
*1373W |
probably null |
Het |
| Mia2 |
G |
A |
12: 59,235,332 (GRCm39) |
|
probably null |
Het |
| Micu2 |
T |
C |
14: 58,156,896 (GRCm39) |
D313G |
possibly damaging |
Het |
| Mrgpra4 |
A |
G |
7: 47,631,371 (GRCm39) |
S77P |
probably damaging |
Het |
| Mrpl51 |
T |
C |
6: 125,169,367 (GRCm39) |
V17A |
probably benign |
Het |
| Neurod4 |
A |
T |
10: 130,106,661 (GRCm39) |
Y204* |
probably null |
Het |
| Or2n1 |
A |
G |
17: 38,486,013 (GRCm39) |
I13V |
probably benign |
Het |
| Or56a42-ps1 |
A |
T |
7: 104,776,217 (GRCm39) |
V97E |
probably benign |
Het |
| Or5p67 |
G |
A |
7: 107,922,460 (GRCm39) |
T141I |
probably benign |
Het |
| Or6c66b |
A |
T |
10: 129,377,132 (GRCm39) |
H242L |
probably damaging |
Het |
| Pate2 |
T |
C |
9: 35,596,941 (GRCm39) |
|
probably benign |
Het |
| Pcdhgb8 |
G |
A |
18: 37,896,580 (GRCm39) |
R550Q |
probably benign |
Het |
| Phldb3 |
T |
C |
7: 24,323,577 (GRCm39) |
L437P |
possibly damaging |
Het |
| Pianp |
C |
A |
6: 124,978,565 (GRCm39) |
P257T |
possibly damaging |
Het |
| Rbbp6 |
T |
A |
7: 122,584,287 (GRCm39) |
H140Q |
possibly damaging |
Het |
| Rfx2 |
A |
G |
17: 57,087,804 (GRCm39) |
I529T |
probably damaging |
Het |
| Rnf113a1 |
A |
C |
X: 36,455,840 (GRCm39) |
T266P |
probably benign |
Het |
| Rp1l1 |
T |
C |
14: 64,268,599 (GRCm39) |
I1395T |
possibly damaging |
Het |
| Rps6ka2 |
A |
C |
17: 7,519,035 (GRCm39) |
K186Q |
probably damaging |
Het |
| Rsf1 |
CGGC |
CGGCGGCGGGGGC |
7: 97,229,139 (GRCm39) |
|
probably benign |
Het |
| Rtel1 |
C |
A |
2: 180,964,256 (GRCm39) |
T85N |
probably benign |
Het |
| Rtn4rl2 |
T |
C |
2: 84,710,967 (GRCm39) |
N99S |
probably damaging |
Het |
| Ryr1 |
C |
T |
7: 28,723,741 (GRCm39) |
G4106D |
possibly damaging |
Het |
| Scgb2b24 |
A |
G |
7: 33,437,894 (GRCm39) |
V71A |
probably benign |
Het |
| Sgip1 |
A |
G |
4: 102,778,225 (GRCm39) |
|
probably benign |
Het |
| Slc12a4 |
G |
A |
8: 106,676,371 (GRCm39) |
T515I |
probably damaging |
Het |
| Spag1 |
C |
T |
15: 36,197,895 (GRCm39) |
R286* |
probably null |
Het |
| Strbp |
C |
T |
2: 37,515,228 (GRCm39) |
R266Q |
probably damaging |
Het |
| Strn |
G |
T |
17: 78,977,787 (GRCm39) |
|
probably benign |
Het |
| Thnsl2 |
C |
A |
6: 71,118,264 (GRCm39) |
V55L |
probably benign |
Het |
| Tmem178b |
A |
T |
6: 40,231,858 (GRCm39) |
Q164L |
unknown |
Het |
| Tmprss6 |
C |
T |
15: 78,324,457 (GRCm39) |
R786H |
probably damaging |
Het |
| Ttc21a |
T |
A |
9: 119,770,268 (GRCm39) |
L113Q |
possibly damaging |
Het |
| Ttc21b |
T |
C |
2: 66,038,994 (GRCm39) |
|
probably null |
Het |
| Vmn2r51 |
T |
C |
7: 9,832,191 (GRCm39) |
D465G |
probably damaging |
Het |
| Vmp1 |
A |
C |
11: 86,556,913 (GRCm39) |
|
probably null |
Het |
| Wdcp |
T |
C |
12: 4,901,358 (GRCm39) |
F405L |
probably damaging |
Het |
| Zfhx3 |
A |
T |
8: 109,676,149 (GRCm39) |
T2400S |
probably benign |
Het |
| Zfp27 |
T |
C |
7: 29,593,860 (GRCm39) |
T702A |
probably benign |
Het |
| Zfp87 |
T |
C |
13: 74,520,080 (GRCm39) |
S333G |
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 |
63,313,803 (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 |
|
|
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'- TTACCACTGCAGGCAAGAG -3'
(R):5'- TTATCCCAACAGGCCACAGG -3'
Sequencing Primer
(F):5'- CTGCAGGCAAGAGGAGGC -3'
(R):5'- AGGAACCACTTGTGATTTGGACC -3'
|
| Posted On |
2018-09-12 |
Incidental Mutation