Incidental Mutation 'IGL03091:Aknad1'
| ID |
418377 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Aknad1
|
| Ensembl Gene |
ENSMUSG00000049565 |
| Gene Name |
AKNA domain containing 1 |
| Synonyms |
4921525H12Rik |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.060)
|
| Stock # |
IGL03091
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
3 |
| Chromosomal Location |
108646974-108689625 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 108659219 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 78
(T78A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000125068
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000123556]
[ENSMUST00000133931]
|
| AlphaFold |
E9Q8N6 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000123556
AA Change: T78A
PolyPhen 2
Score 0.759 (Sensitivity: 0.85; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000125068
Gene: ENSMUSG00000049565
AA Change: T78A
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:AKNA
|
322 |
414 |
3.4e-44 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000133931
AA Change: T78A
PolyPhen 2
Score 0.439 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000121755
Gene: ENSMUSG00000049565
AA Change: T78A
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:AKNA
|
322 |
415 |
2.5e-35 |
PFAM |
|
low complexity region
|
557 |
572 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000150998
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein which contains a domain found in an AT-hook-containing transcription factor. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2012]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 37 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ago1 |
A |
T |
4: 126,352,982 (GRCm39) |
Y314N |
probably damaging |
Het |
| Arhgap33 |
G |
A |
7: 30,227,718 (GRCm39) |
P494S |
probably damaging |
Het |
| Babam2 |
T |
A |
5: 31,943,022 (GRCm39) |
|
probably null |
Het |
| Ces2g |
T |
C |
8: 105,691,386 (GRCm39) |
V174A |
probably damaging |
Het |
| Chd1l |
G |
A |
3: 97,470,863 (GRCm39) |
R811C |
probably damaging |
Het |
| Crot |
A |
T |
5: 9,016,897 (GRCm39) |
H598Q |
probably benign |
Het |
| Dtx2 |
C |
T |
5: 136,041,228 (GRCm39) |
S211L |
probably damaging |
Het |
| Duox2 |
T |
G |
2: 122,119,955 (GRCm39) |
M852L |
probably benign |
Het |
| Fmc1 |
G |
T |
6: 38,516,170 (GRCm39) |
S72I |
probably damaging |
Het |
| Fut1 |
T |
C |
7: 45,268,951 (GRCm39) |
C302R |
probably damaging |
Het |
| Gm6401 |
T |
C |
14: 41,786,615 (GRCm39) |
T184A |
possibly damaging |
Het |
| Gsdma2 |
C |
T |
11: 98,542,828 (GRCm39) |
T29I |
probably damaging |
Het |
| Lgi2 |
C |
A |
5: 52,721,307 (GRCm39) |
|
probably null |
Het |
| Lipe |
A |
G |
7: 25,080,180 (GRCm39) |
L926P |
probably damaging |
Het |
| Lrp1 |
T |
A |
10: 127,394,993 (GRCm39) |
I2511F |
probably benign |
Het |
| Med10 |
T |
C |
13: 69,963,816 (GRCm39) |
|
probably benign |
Het |
| Nbea |
A |
G |
3: 55,992,725 (GRCm39) |
S294P |
probably damaging |
Het |
| Neb |
T |
A |
2: 52,161,324 (GRCm39) |
H2156L |
probably benign |
Het |
| Neo1 |
A |
T |
9: 58,885,951 (GRCm39) |
N335K |
probably damaging |
Het |
| Nox3 |
G |
T |
17: 3,716,119 (GRCm39) |
Q429K |
probably benign |
Het |
| Odad4 |
T |
A |
11: 100,441,076 (GRCm39) |
Y102* |
probably null |
Het |
| Pkd1l1 |
T |
C |
11: 8,805,564 (GRCm39) |
R1671G |
probably damaging |
Het |
| Plec |
T |
C |
15: 76,073,503 (GRCm39) |
T504A |
possibly damaging |
Het |
| Pou5f1 |
G |
T |
17: 35,820,939 (GRCm39) |
R127L |
probably benign |
Het |
| Prkdc |
T |
A |
16: 15,523,174 (GRCm39) |
|
probably benign |
Het |
| Rassf8 |
T |
A |
6: 145,761,536 (GRCm39) |
N287K |
probably benign |
Het |
| Rdh16 |
T |
C |
10: 127,649,502 (GRCm39) |
|
probably benign |
Het |
| Ryr1 |
G |
A |
7: 28,782,911 (GRCm39) |
A1901V |
possibly damaging |
Het |
| Scnn1g |
A |
G |
7: 121,345,906 (GRCm39) |
Y343C |
probably damaging |
Het |
| Sema5a |
A |
G |
15: 32,538,880 (GRCm39) |
|
probably benign |
Het |
| Slc9b2 |
G |
A |
3: 135,034,791 (GRCm39) |
V310M |
probably damaging |
Het |
| Stox2 |
T |
A |
8: 47,646,222 (GRCm39) |
I477F |
possibly damaging |
Het |
| Terb1 |
A |
T |
8: 105,195,786 (GRCm39) |
H548Q |
probably benign |
Het |
| Tsks |
G |
A |
7: 44,607,319 (GRCm39) |
M547I |
possibly damaging |
Het |
| Tuba8 |
G |
A |
6: 121,197,403 (GRCm39) |
E22K |
probably damaging |
Het |
| Wee2 |
T |
C |
6: 40,438,968 (GRCm39) |
F364L |
probably benign |
Het |
| Zfp644 |
A |
G |
5: 106,784,724 (GRCm39) |
Y608H |
probably damaging |
Het |
|
| Other mutations in Aknad1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00697:Aknad1
|
APN |
3 |
108,682,324 (GRCm39) |
missense |
probably damaging |
0.96 |
|
IGL01734:Aknad1
|
APN |
3 |
108,659,217 (GRCm39) |
missense |
probably benign |
0.05 |
|
IGL01877:Aknad1
|
APN |
3 |
108,682,406 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL01964:Aknad1
|
APN |
3 |
108,685,593 (GRCm39) |
missense |
probably benign |
|
|
IGL03172:Aknad1
|
APN |
3 |
108,688,519 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R0023:Aknad1
|
UTSW |
3 |
108,688,501 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0023:Aknad1
|
UTSW |
3 |
108,688,501 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0238:Aknad1
|
UTSW |
3 |
108,688,555 (GRCm39) |
missense |
probably benign |
|
|
R0238:Aknad1
|
UTSW |
3 |
108,688,555 (GRCm39) |
missense |
probably benign |
|
|
R0294:Aknad1
|
UTSW |
3 |
108,682,508 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0931:Aknad1
|
UTSW |
3 |
108,659,339 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1147:Aknad1
|
UTSW |
3 |
108,659,857 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R1147:Aknad1
|
UTSW |
3 |
108,659,857 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R1179:Aknad1
|
UTSW |
3 |
108,659,783 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
R1579:Aknad1
|
UTSW |
3 |
108,659,452 (GRCm39) |
nonsense |
probably null |
|
|
R1746:Aknad1
|
UTSW |
3 |
108,659,099 (GRCm39) |
missense |
possibly damaging |
0.48 |
|
R2205:Aknad1
|
UTSW |
3 |
108,664,609 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2316:Aknad1
|
UTSW |
3 |
108,688,472 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R2519:Aknad1
|
UTSW |
3 |
108,663,784 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R3087:Aknad1
|
UTSW |
3 |
108,664,179 (GRCm39) |
nonsense |
probably null |
|
|
R4007:Aknad1
|
UTSW |
3 |
108,682,598 (GRCm39) |
missense |
probably benign |
0.33 |
|
R4716:Aknad1
|
UTSW |
3 |
108,682,417 (GRCm39) |
critical splice donor site |
probably null |
|
|
R4762:Aknad1
|
UTSW |
3 |
108,682,547 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R4852:Aknad1
|
UTSW |
3 |
108,659,056 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4910:Aknad1
|
UTSW |
3 |
108,688,568 (GRCm39) |
critical splice donor site |
probably null |
|
|
R5191:Aknad1
|
UTSW |
3 |
108,659,867 (GRCm39) |
missense |
probably benign |
0.11 |
|
R5191:Aknad1
|
UTSW |
3 |
108,659,306 (GRCm39) |
missense |
probably benign |
0.04 |
|
R5918:Aknad1
|
UTSW |
3 |
108,659,703 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6246:Aknad1
|
UTSW |
3 |
108,659,148 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6730:Aknad1
|
UTSW |
3 |
108,659,655 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R7123:Aknad1
|
UTSW |
3 |
108,682,560 (GRCm39) |
nonsense |
probably null |
|
|
R7641:Aknad1
|
UTSW |
3 |
108,679,291 (GRCm39) |
missense |
probably benign |
0.41 |
|
R8181:Aknad1
|
UTSW |
3 |
108,659,328 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R8377:Aknad1
|
UTSW |
3 |
108,689,255 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R8430:Aknad1
|
UTSW |
3 |
108,659,037 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R8735:Aknad1
|
UTSW |
3 |
108,682,615 (GRCm39) |
splice site |
probably benign |
|
|
R9191:Aknad1
|
UTSW |
3 |
108,664,093 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9250:Aknad1
|
UTSW |
3 |
108,664,143 (GRCm39) |
missense |
probably damaging |
1.00 |
|
X0023:Aknad1
|
UTSW |
3 |
108,659,493 (GRCm39) |
missense |
possibly damaging |
0.47 |
|
| Posted On |
2016-08-02 |
Incidental Mutation