Incidental Mutation 'R6176:Akna'
| ID |
487744 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Akna
|
| Ensembl Gene |
ENSMUSG00000039158 |
| Gene Name |
AT-hook transcription factor |
| Synonyms |
|
| MMRRC Submission |
044318-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.081)
|
| Stock # |
R6176 (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 63295969 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamine to Arginine
at position 966
(Q966R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000041614
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000035724]
|
| AlphaFold |
Q80VW7 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000035724
AA Change: Q966R
PolyPhen 2
Score 0.035 (Sensitivity: 0.94; Specificity: 0.82)
|
| SMART Domains |
Protein: ENSMUSP00000041614
Gene: ENSMUSG00000039158
AA Change: Q966R
| 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
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.2%
- 20x: 94.9%
|
| Validation Efficiency |
97% (60/62) |
| 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 |
|---|
| Amn |
A |
G |
12: 111,240,590 (GRCm39) |
D74G |
possibly damaging |
Het |
| Ank2 |
T |
A |
3: 126,739,120 (GRCm39) |
T2255S |
probably benign |
Het |
| Ankfy1 |
G |
A |
11: 72,645,285 (GRCm39) |
C788Y |
probably benign |
Het |
| Apaf1 |
A |
G |
10: 90,895,433 (GRCm39) |
|
probably null |
Het |
| Asl |
T |
A |
5: 130,047,720 (GRCm39) |
H82L |
probably benign |
Het |
| Atrn |
A |
G |
2: 130,788,011 (GRCm39) |
E271G |
probably benign |
Het |
| B4galnt3 |
A |
G |
6: 120,201,125 (GRCm39) |
F184S |
probably damaging |
Het |
| C1s2 |
T |
A |
6: 124,602,768 (GRCm39) |
H481L |
probably damaging |
Het |
| Cav2 |
A |
G |
6: 17,286,918 (GRCm39) |
D58G |
possibly damaging |
Het |
| Cc2d2a |
A |
T |
5: 43,866,455 (GRCm39) |
H755L |
probably benign |
Het |
| Ccdc65 |
A |
G |
15: 98,606,433 (GRCm39) |
|
probably null |
Het |
| Celsr3 |
A |
T |
9: 108,705,554 (GRCm39) |
Y679F |
probably damaging |
Het |
| Cep135 |
A |
T |
5: 76,772,490 (GRCm39) |
Y625F |
probably benign |
Het |
| Cfhr1 |
A |
G |
1: 139,478,654 (GRCm39) |
S58P |
probably damaging |
Het |
| Clip4 |
T |
A |
17: 72,113,628 (GRCm39) |
C259* |
probably null |
Het |
| Cyp2j12 |
T |
A |
4: 96,029,074 (GRCm39) |
Q69L |
probably damaging |
Het |
| Dock3 |
G |
A |
9: 106,790,147 (GRCm39) |
T1484I |
probably benign |
Het |
| Ecscr |
CCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCT |
CCTGCTGCTGCTGCTGCTGCTGCTGCTGCT |
18: 35,849,813 (GRCm39) |
|
probably benign |
Het |
| Efcab3 |
A |
T |
11: 104,683,383 (GRCm39) |
I1604F |
probably benign |
Het |
| Fam43b |
T |
C |
4: 138,122,522 (GRCm39) |
D266G |
probably damaging |
Het |
| Fbxl13 |
T |
A |
5: 21,705,498 (GRCm39) |
I618F |
possibly damaging |
Het |
| Gne |
C |
T |
4: 44,053,019 (GRCm39) |
|
probably benign |
Het |
| Gnpat |
T |
A |
8: 125,605,593 (GRCm39) |
V321E |
probably damaging |
Het |
| Gpatch8 |
G |
A |
11: 102,378,350 (GRCm39) |
A200V |
unknown |
Het |
| Grid1 |
C |
A |
14: 35,284,504 (GRCm39) |
A749E |
probably benign |
Het |
| Grip2 |
C |
T |
6: 91,756,832 (GRCm39) |
V540I |
probably benign |
Het |
| Ice2 |
C |
T |
9: 69,324,354 (GRCm39) |
T759M |
probably damaging |
Het |
| Jrk |
G |
T |
15: 74,578,189 (GRCm39) |
N365K |
possibly damaging |
Het |
| Kank4 |
A |
G |
4: 98,653,791 (GRCm39) |
I879T |
probably damaging |
Het |
| Krtap20-1 |
T |
A |
16: 88,812,288 (GRCm39) |
Y24* |
probably null |
Het |
| Lao1 |
T |
A |
4: 118,819,197 (GRCm39) |
M1K |
probably null |
Het |
| Mlf1 |
A |
G |
3: 67,291,927 (GRCm39) |
R31G |
probably damaging |
Het |
| Nt5c3b |
T |
C |
11: 100,330,974 (GRCm39) |
|
probably benign |
Het |
| Nusap1 |
A |
G |
2: 119,460,902 (GRCm39) |
R132G |
probably benign |
Het |
| Or11g1 |
A |
G |
14: 50,651,847 (GRCm39) |
Y282C |
probably damaging |
Het |
| Or1e16 |
AGCGGTCGTAGGC |
AGC |
11: 73,286,480 (GRCm39) |
|
probably null |
Het |
| Or5w20 |
G |
A |
2: 87,727,280 (GRCm39) |
V254I |
probably benign |
Het |
| Or8d2b |
A |
C |
9: 38,788,673 (GRCm39) |
D67A |
probably damaging |
Het |
| Paqr9 |
G |
T |
9: 95,442,828 (GRCm39) |
V273L |
possibly damaging |
Het |
| Pcdha9 |
A |
T |
18: 37,131,984 (GRCm39) |
D351V |
probably benign |
Het |
| Pcdhga1 |
A |
G |
18: 37,797,282 (GRCm39) |
D762G |
probably benign |
Het |
| Pde3a |
T |
A |
6: 141,444,615 (GRCm39) |
L1141Q |
possibly damaging |
Het |
| Pga5 |
T |
A |
19: 10,649,149 (GRCm39) |
|
probably null |
Het |
| Phldb3 |
C |
A |
7: 24,326,127 (GRCm39) |
R570S |
probably damaging |
Het |
| Slc22a6 |
A |
C |
19: 8,599,161 (GRCm39) |
E264A |
probably damaging |
Het |
| Slc49a4 |
C |
T |
16: 35,525,167 (GRCm39) |
M426I |
probably benign |
Het |
| Slit1 |
T |
C |
19: 41,626,034 (GRCm39) |
K576R |
probably damaging |
Het |
| Sox21 |
T |
C |
14: 118,473,040 (GRCm39) |
K3R |
possibly damaging |
Het |
| Stk32c |
A |
T |
7: 138,700,691 (GRCm39) |
D297E |
probably benign |
Het |
| Suclg1 |
T |
C |
6: 73,252,326 (GRCm39) |
V323A |
probably damaging |
Het |
| Tas1r2 |
T |
G |
4: 139,396,199 (GRCm39) |
C513G |
probably damaging |
Het |
| Tbc1d23 |
A |
G |
16: 56,992,152 (GRCm39) |
Y603H |
probably damaging |
Het |
| Tbc1d31 |
T |
C |
15: 57,816,192 (GRCm39) |
V642A |
probably damaging |
Het |
| Tle2 |
A |
T |
10: 81,423,168 (GRCm39) |
D486V |
probably damaging |
Het |
| Tmem232 |
A |
G |
17: 65,792,867 (GRCm39) |
I110T |
probably damaging |
Het |
| Tmem39b |
A |
G |
4: 129,586,894 (GRCm39) |
Y106H |
probably damaging |
Het |
| Trpm4 |
T |
G |
7: 44,976,100 (GRCm39) |
N229T |
probably damaging |
Het |
| Tspo |
A |
G |
15: 83,458,007 (GRCm39) |
T120A |
probably benign |
Het |
| Ttc28 |
G |
A |
5: 111,371,851 (GRCm39) |
A767T |
probably damaging |
Het |
| Usp53 |
G |
A |
3: 122,727,652 (GRCm39) |
Q977* |
probably null |
Het |
| Vmn1r215 |
T |
A |
13: 23,260,528 (GRCm39) |
D189E |
probably damaging |
Het |
| Vmn2r12 |
T |
C |
5: 109,233,866 (GRCm39) |
Y782C |
probably benign |
Het |
| Vmn2r54 |
A |
G |
7: 12,349,908 (GRCm39) |
L558P |
probably damaging |
Het |
| Zfp268 |
T |
A |
4: 145,350,628 (GRCm39) |
C688* |
probably null |
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 |
|
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'- GTGGTGAACTCCCATAGTATCTCAC -3'
(R):5'- AAGCCTTAGCACACAGAGGG -3'
Sequencing Primer
(F):5'- CATCTTGACCTACAATGCAAGGCTG -3'
(R):5'- CCGGGTATCATAGCTTGAGC -3'
|
| Posted On |
2017-10-10 |
Incidental Mutation