Incidental Mutation 'IGL01105:Kank3'
ID |
278178 |
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 # |
IGL01105
|
Quality Score |
|
Status
|
|
Chromosome |
17 |
Chromosomal Location |
34029497-34041894 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to A
at 34036375 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glycine to Glutamic Acid
at position 81
(G81E)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000040126
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000048560]
[ENSMUST00000172649]
[ENSMUST00000173019]
[ENSMUST00000173789]
|
AlphaFold |
Q9Z1P7 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000048560
AA Change: G81E
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000040126 Gene: ENSMUSG00000042099 AA Change: G81E
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: 38 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Ace |
T |
A |
11: 105,862,885 (GRCm39) |
V302E |
probably damaging |
Het |
Ahcy |
T |
C |
2: 154,909,281 (GRCm39) |
D86G |
probably benign |
Het |
Antxr2 |
G |
T |
5: 98,152,802 (GRCm39) |
|
probably benign |
Het |
Cadps2 |
A |
G |
6: 23,321,699 (GRCm39) |
|
probably benign |
Het |
Cdhr4 |
C |
T |
9: 107,873,060 (GRCm39) |
|
probably benign |
Het |
Cdkn2c |
C |
T |
4: 109,518,823 (GRCm39) |
V44I |
probably damaging |
Het |
Chodl |
T |
C |
16: 78,738,151 (GRCm39) |
Y40H |
probably damaging |
Het |
Heatr3 |
A |
G |
8: 88,888,521 (GRCm39) |
D391G |
probably benign |
Het |
Hephl1 |
T |
C |
9: 15,000,320 (GRCm39) |
T311A |
possibly damaging |
Het |
Itpr1 |
G |
A |
6: 108,358,294 (GRCm39) |
S620N |
probably benign |
Het |
Kank1 |
T |
A |
19: 25,401,680 (GRCm39) |
S1096T |
possibly damaging |
Het |
Krtap9-5 |
A |
G |
11: 99,839,459 (GRCm39) |
I53M |
unknown |
Het |
Limk2 |
G |
A |
11: 3,305,475 (GRCm39) |
|
probably benign |
Het |
Lrig2 |
G |
A |
3: 104,371,484 (GRCm39) |
R382* |
probably null |
Het |
Mamdc2 |
T |
A |
19: 23,308,366 (GRCm39) |
D512V |
probably benign |
Het |
Marchf1 |
A |
T |
8: 66,871,529 (GRCm39) |
T353S |
possibly damaging |
Het |
Mrc2 |
A |
G |
11: 105,219,567 (GRCm39) |
D312G |
probably damaging |
Het |
Myh9 |
C |
T |
15: 77,665,678 (GRCm39) |
M627I |
probably benign |
Het |
Nipa2 |
A |
T |
7: 55,583,193 (GRCm39) |
I184N |
probably damaging |
Het |
Npy1r |
A |
G |
8: 67,157,428 (GRCm39) |
K246R |
probably benign |
Het |
Pank4 |
C |
T |
4: 155,056,922 (GRCm39) |
|
probably benign |
Het |
Pcdh12 |
T |
A |
18: 38,408,400 (GRCm39) |
E1035D |
probably damaging |
Het |
Pias2 |
T |
A |
18: 77,220,852 (GRCm39) |
D362E |
probably damaging |
Het |
Pkd1l3 |
G |
T |
8: 110,388,873 (GRCm39) |
V1872L |
possibly damaging |
Het |
Postn |
T |
G |
3: 54,270,131 (GRCm39) |
I70S |
probably damaging |
Het |
Ppef2 |
A |
G |
5: 92,397,055 (GRCm39) |
S107P |
possibly damaging |
Het |
Prl3c1 |
T |
C |
13: 27,386,408 (GRCm39) |
V131A |
probably benign |
Het |
Qsox2 |
A |
G |
2: 26,099,697 (GRCm39) |
V609A |
probably benign |
Het |
Rhebl1 |
C |
A |
15: 98,776,379 (GRCm39) |
E139D |
probably benign |
Het |
Ryr3 |
A |
G |
2: 112,582,150 (GRCm39) |
S2848P |
probably damaging |
Het |
Scd2 |
T |
A |
19: 44,286,497 (GRCm39) |
I109N |
probably benign |
Het |
Sim1 |
A |
G |
10: 50,857,630 (GRCm39) |
H460R |
probably damaging |
Het |
Slc35f3 |
C |
A |
8: 127,025,553 (GRCm39) |
P10Q |
probably damaging |
Het |
Slf1 |
T |
C |
13: 77,249,031 (GRCm39) |
|
probably benign |
Het |
Stk10 |
G |
T |
11: 32,527,740 (GRCm39) |
V163L |
probably benign |
Het |
Tssk6 |
A |
G |
8: 70,355,462 (GRCm39) |
T169A |
probably benign |
Het |
Usp28 |
T |
A |
9: 48,921,550 (GRCm39) |
V256E |
probably damaging |
Het |
Vmn2r77 |
A |
T |
7: 86,460,872 (GRCm39) |
I733F |
probably 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 |
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 |
|
IGL02129:Kank3
|
APN |
17 |
34,036,465 (GRCm39) |
missense |
probably benign |
|
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 |