Incidental Mutation 'IGL02129:Kank3'
| ID |
280989 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Kank3
|
| Ensembl Gene |
ENSMUSG00000042099 |
| Gene Name |
KN motif and ankyrin repeat domains 3 |
| Synonyms |
D17Ertd288e, 0610013D04Rik, Ankrd47 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.082)
|
| Stock # |
IGL02129
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
17 |
| Chromosomal Location |
34029497-34041894 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 34036465 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Proline to Leucine
at position 111
(P111L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000040126
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000048560]
[ENSMUST00000172649]
[ENSMUST00000173019]
[ENSMUST00000173789]
|
| AlphaFold |
Q9Z1P7 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000048560
AA Change: P111L
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000040126
Gene: ENSMUSG00000042099
AA Change: P111L
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
10 |
22 |
N/A |
INTRINSIC |
|
Pfam:KN_motif
|
32 |
73 |
9.1e-24 |
PFAM |
|
low complexity region
|
105 |
125 |
N/A |
INTRINSIC |
|
low complexity region
|
138 |
150 |
N/A |
INTRINSIC |
|
coiled coil region
|
180 |
229 |
N/A |
INTRINSIC |
|
low complexity region
|
317 |
362 |
N/A |
INTRINSIC |
|
low complexity region
|
369 |
385 |
N/A |
INTRINSIC |
|
low complexity region
|
460 |
478 |
N/A |
INTRINSIC |
|
low complexity region
|
485 |
498 |
N/A |
INTRINSIC |
|
ANK
|
606 |
636 |
3.46e-4 |
SMART |
|
ANK
|
640 |
674 |
2.88e2 |
SMART |
|
ANK
|
679 |
708 |
5.41e-6 |
SMART |
|
ANK
|
712 |
742 |
2.73e-2 |
SMART |
|
Blast:ANK
|
746 |
775 |
4e-9 |
BLAST |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000172649
|
| SMART Domains |
Protein: ENSMUSP00000133760
Gene: ENSMUSG00000042099
| Domain | Start | End | E-Value | Type |
|---|
|
coiled coil region
|
8 |
41 |
N/A |
INTRINSIC |
|
low complexity region
|
129 |
174 |
N/A |
INTRINSIC |
|
low complexity region
|
181 |
197 |
N/A |
INTRINSIC |
|
low complexity region
|
272 |
290 |
N/A |
INTRINSIC |
|
low complexity region
|
297 |
310 |
N/A |
INTRINSIC |
|
ANK
|
418 |
448 |
3.46e-4 |
SMART |
|
ANK
|
452 |
486 |
2.88e2 |
SMART |
|
ANK
|
491 |
520 |
5.41e-6 |
SMART |
|
ANK
|
524 |
554 |
2.73e-2 |
SMART |
|
Blast:ANK
|
558 |
587 |
3e-9 |
BLAST |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000173019
|
| SMART Domains |
Protein: ENSMUSP00000134615
Gene: ENSMUSG00000067288
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Ribosomal_S28e
|
1 |
69 |
3.6e-37 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000173649
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000173789
|
| SMART Domains |
Protein: ENSMUSP00000133625
Gene: ENSMUSG00000042099
| Domain | Start | End | E-Value | Type |
|---|
|
ANK
|
22 |
56 |
2.88e2 |
SMART |
|
ANK
|
61 |
90 |
5.41e-6 |
SMART |
|
ANK
|
94 |
124 |
2.73e-2 |
SMART |
|
Blast:ANK
|
128 |
157 |
7e-10 |
BLAST |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000173958
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000174608
|
| SMART Domains |
Protein: ENSMUSP00000134656
Gene: ENSMUSG00000042099
| Domain | Start | End | E-Value | Type |
|---|
|
SCOP:d1bd8__
|
2 |
47 |
9e-5 |
SMART |
|
PDB:4HBD|A
|
8 |
48 |
1e-6 |
PDB |
|
Blast:ANK
|
23 |
52 |
3e-11 |
BLAST |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 33 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Atp1a3 |
T |
A |
7: 24,696,711 (GRCm39) |
H293L |
probably damaging |
Het |
| AU040320 |
A |
G |
4: 126,717,485 (GRCm39) |
Y354C |
probably damaging |
Het |
| Bag4 |
T |
C |
8: 26,258,113 (GRCm39) |
T405A |
probably damaging |
Het |
| Best1 |
T |
A |
19: 9,970,285 (GRCm39) |
Q109L |
probably benign |
Het |
| Bod1l |
G |
A |
5: 41,979,193 (GRCm39) |
T707I |
probably benign |
Het |
| Bora |
G |
A |
14: 99,294,257 (GRCm39) |
|
probably null |
Het |
| Btnl9 |
A |
C |
11: 49,060,100 (GRCm39) |
D464E |
probably damaging |
Het |
| Cebpe |
T |
A |
14: 54,949,070 (GRCm39) |
R116W |
probably damaging |
Het |
| Col6a6 |
T |
C |
9: 105,613,539 (GRCm39) |
|
probably benign |
Het |
| Copb2 |
T |
C |
9: 98,467,976 (GRCm39) |
|
probably benign |
Het |
| Ep300 |
A |
G |
15: 81,470,837 (GRCm39) |
E3G |
unknown |
Het |
| Fam117b |
A |
G |
1: 60,020,582 (GRCm39) |
H484R |
probably benign |
Het |
| Fgb |
T |
A |
3: 82,950,725 (GRCm39) |
K343M |
probably benign |
Het |
| Fkbpl |
C |
T |
17: 34,864,952 (GRCm39) |
T240M |
probably damaging |
Het |
| Gemin6 |
T |
C |
17: 80,535,355 (GRCm39) |
L105P |
probably damaging |
Het |
| Heatr3 |
T |
C |
8: 88,884,899 (GRCm39) |
|
probably benign |
Het |
| Itch |
C |
T |
2: 155,059,908 (GRCm39) |
|
probably benign |
Het |
| Mthfsl |
T |
A |
9: 88,597,589 (GRCm39) |
I111F |
probably damaging |
Het |
| Mtor |
A |
T |
4: 148,634,302 (GRCm39) |
M2382L |
possibly damaging |
Het |
| Myh2 |
A |
G |
11: 67,076,084 (GRCm39) |
D757G |
probably benign |
Het |
| Naa35 |
A |
G |
13: 59,757,339 (GRCm39) |
D238G |
probably damaging |
Het |
| Nckap5 |
A |
T |
1: 125,955,432 (GRCm39) |
Y373* |
probably null |
Het |
| Or5an10 |
T |
A |
19: 12,275,822 (GRCm39) |
I225F |
probably damaging |
Het |
| Pigm |
G |
A |
1: 172,205,434 (GRCm39) |
W390* |
probably null |
Het |
| Plxnb2 |
A |
G |
15: 89,044,613 (GRCm39) |
V1211A |
probably benign |
Het |
| Sh3yl1 |
T |
A |
12: 30,992,876 (GRCm39) |
|
probably benign |
Het |
| Spg11 |
T |
A |
2: 121,926,167 (GRCm39) |
Q709H |
probably damaging |
Het |
| Spr-ps1 |
A |
G |
6: 85,132,804 (GRCm39) |
|
noncoding transcript |
Het |
| Tc2n |
T |
C |
12: 101,656,048 (GRCm39) |
N208D |
probably damaging |
Het |
| Tdo2 |
C |
T |
3: 81,866,232 (GRCm39) |
V344M |
probably damaging |
Het |
| Ttll1 |
G |
A |
15: 83,368,450 (GRCm39) |
P403S |
probably benign |
Het |
| Usp20 |
T |
C |
2: 30,894,462 (GRCm39) |
V126A |
probably benign |
Het |
| Zfp109 |
T |
C |
7: 23,936,054 (GRCm39) |
T2A |
possibly damaging |
Het |
|
| Other mutations in Kank3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00983:Kank3
|
APN |
17 |
34,040,791 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01105:Kank3
|
APN |
17 |
34,036,375 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01106:Kank3
|
APN |
17 |
34,036,375 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01139:Kank3
|
APN |
17 |
34,036,375 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01595:Kank3
|
APN |
17 |
34,038,154 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL02364:Kank3
|
APN |
17 |
34,037,824 (GRCm39) |
missense |
probably benign |
|
|
IGL02540:Kank3
|
APN |
17 |
34,038,161 (GRCm39) |
unclassified |
probably benign |
|
|
R0940:Kank3
|
UTSW |
17 |
34,036,450 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1387:Kank3
|
UTSW |
17 |
34,035,205 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R1663:Kank3
|
UTSW |
17 |
34,037,349 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1738:Kank3
|
UTSW |
17 |
34,036,168 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1752:Kank3
|
UTSW |
17 |
34,038,791 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4194:Kank3
|
UTSW |
17 |
34,041,237 (GRCm39) |
intron |
probably benign |
|
|
R4921:Kank3
|
UTSW |
17 |
34,036,174 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5001:Kank3
|
UTSW |
17 |
34,040,746 (GRCm39) |
missense |
possibly damaging |
0.51 |
|
R5011:Kank3
|
UTSW |
17 |
34,041,044 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5111:Kank3
|
UTSW |
17 |
34,037,155 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R5147:Kank3
|
UTSW |
17 |
34,041,176 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5282:Kank3
|
UTSW |
17 |
34,036,917 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5752:Kank3
|
UTSW |
17 |
34,037,037 (GRCm39) |
missense |
probably benign |
|
|
R5943:Kank3
|
UTSW |
17 |
34,037,375 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6027:Kank3
|
UTSW |
17 |
34,037,088 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
R7936:Kank3
|
UTSW |
17 |
34,037,841 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8837:Kank3
|
UTSW |
17 |
34,036,627 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R9170:Kank3
|
UTSW |
17 |
34,037,242 (GRCm39) |
missense |
probably damaging |
1.00 |
|
X0066:Kank3
|
UTSW |
17 |
34,036,245 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2015-04-16 |
Incidental Mutation