Incidental Mutation 'R5147:Kank3'
| ID |
395175 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Kank3
|
| Ensembl Gene |
ENSMUSG00000042099 |
| Gene Name |
KN motif and ankyrin repeat domains 3 |
| Synonyms |
D17Ertd288e, 0610013D04Rik, Ankrd47 |
| MMRRC Submission |
042731-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.082)
|
| Stock # |
R5147 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
17 |
| Chromosomal Location |
34029497-34041894 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 34041176 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 556
(D556G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000133760
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000048249]
[ENSMUST00000048560]
[ENSMUST00000087342]
[ENSMUST00000166693]
[ENSMUST00000172649]
[ENSMUST00000173019]
[ENSMUST00000173132]
[ENSMUST00000173789]
[ENSMUST00000173879]
[ENSMUST00000173844]
|
| AlphaFold |
Q9Z1P7 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000048249
|
| SMART Domains |
Protein: ENSMUSP00000039692
Gene: ENSMUSG00000041881
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:CI-B14_5a
|
5 |
102 |
2.1e-40 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000048560
AA Change: D744G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000040126
Gene: ENSMUSG00000042099
AA Change: D744G
| 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: ENSMUST00000087342
|
| SMART Domains |
Protein: ENSMUSP00000110013
Gene: ENSMUSG00000067288
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Ribosomal_S28e
|
1 |
69 |
3.6e-37 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000166693
|
| SMART Domains |
Protein: ENSMUSP00000133642
Gene: ENSMUSG00000067288
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Ribosomal_S28e
|
1 |
69 |
3.6e-37 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000172649
AA Change: D556G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000133760
Gene: ENSMUSG00000042099
AA Change: D556G
| 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 |
probably benign
Transcript: ENSMUST00000173132
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000174608
AA Change: D20G
|
| SMART Domains |
Protein: ENSMUSP00000134656
Gene: ENSMUSG00000042099
AA Change: D20G
| 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 |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000173789
AA Change: D126G
PolyPhen 2
Score 0.922 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000133625
Gene: ENSMUSG00000042099
AA Change: D126G
| 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: ENSMUST00000173175
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000173182
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000173807
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000174498
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000173649
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000173480
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000173958
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000174788
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000173879
|
| SMART Domains |
Protein: ENSMUSP00000134240
Gene: ENSMUSG00000067288
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Ribosomal_S28e
|
1 |
56 |
2.5e-33 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000173844
|
| SMART Domains |
Protein: ENSMUSP00000133357
Gene: ENSMUSG00000067288
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Ribosomal_S28e
|
1 |
69 |
3.6e-37 |
PFAM |
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.1%
- 20x: 94.5%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 37 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca7 |
T |
C |
10: 79,851,149 (GRCm39) |
Y2121H |
probably benign |
Het |
| Adgrf2 |
A |
G |
17: 43,021,574 (GRCm39) |
Y417H |
probably damaging |
Het |
| Ap5z1 |
A |
C |
5: 142,452,265 (GRCm39) |
D66A |
probably benign |
Het |
| Cachd1 |
T |
A |
4: 100,821,688 (GRCm39) |
Y422N |
probably damaging |
Het |
| Cfap54 |
C |
T |
10: 92,773,700 (GRCm39) |
G114D |
probably benign |
Het |
| Cgref1 |
C |
T |
5: 31,091,049 (GRCm39) |
G255E |
probably benign |
Het |
| Cyp2a22 |
A |
C |
7: 26,635,750 (GRCm39) |
L271R |
probably damaging |
Het |
| Dcp2 |
G |
T |
18: 44,550,662 (GRCm39) |
E379* |
probably null |
Het |
| Fhl3 |
T |
A |
4: 124,601,724 (GRCm39) |
D277E |
probably benign |
Het |
| Gm19684 |
C |
T |
17: 36,439,411 (GRCm39) |
V190M |
probably damaging |
Het |
| Hpse |
T |
C |
5: 100,867,375 (GRCm39) |
D29G |
probably benign |
Het |
| Il31 |
T |
C |
5: 123,620,121 (GRCm39) |
|
probably benign |
Het |
| Ilk |
T |
C |
7: 105,391,774 (GRCm39) |
C422R |
possibly damaging |
Het |
| Itga1 |
T |
G |
13: 115,121,678 (GRCm39) |
D777A |
possibly damaging |
Het |
| Lrit3 |
A |
G |
3: 129,597,574 (GRCm39) |
S36P |
possibly damaging |
Het |
| Magi1 |
C |
T |
6: 93,724,248 (GRCm39) |
E256K |
probably damaging |
Het |
| Mroh9 |
C |
G |
1: 162,888,329 (GRCm39) |
G249R |
probably damaging |
Het |
| Mymk |
C |
T |
2: 26,952,299 (GRCm39) |
M148I |
probably benign |
Het |
| Nlrp12 |
T |
A |
7: 3,290,003 (GRCm39) |
I170F |
possibly damaging |
Het |
| Odad3 |
T |
C |
9: 21,906,158 (GRCm39) |
E260G |
probably benign |
Het |
| Or5al7 |
A |
T |
2: 85,992,378 (GRCm39) |
I305K |
possibly damaging |
Het |
| Or5an11 |
T |
A |
19: 12,246,268 (GRCm39) |
S225T |
probably damaging |
Het |
| Pkd1l1 |
G |
A |
11: 8,799,003 (GRCm39) |
T1803I |
possibly damaging |
Het |
| Ppp2r2b |
C |
T |
18: 42,778,942 (GRCm39) |
V398I |
probably benign |
Het |
| Ppp2r5e |
T |
A |
12: 75,516,544 (GRCm39) |
R214S |
probably damaging |
Het |
| Prss16 |
T |
C |
13: 22,190,264 (GRCm39) |
D298G |
possibly damaging |
Het |
| Qprt |
G |
A |
7: 126,707,622 (GRCm39) |
R189W |
probably damaging |
Het |
| Rara |
C |
T |
11: 98,841,550 (GRCm39) |
S36F |
probably benign |
Het |
| Rasal2 |
A |
G |
1: 157,003,264 (GRCm39) |
V465A |
probably damaging |
Het |
| Slc22a1 |
C |
T |
17: 12,869,838 (GRCm39) |
G508R |
probably damaging |
Het |
| Slco2a1 |
C |
A |
9: 102,927,468 (GRCm39) |
F120L |
probably damaging |
Het |
| Tex15 |
T |
A |
8: 34,062,340 (GRCm39) |
L864* |
probably null |
Het |
| Tssk4 |
A |
G |
14: 55,888,430 (GRCm39) |
I100V |
possibly damaging |
Het |
| Vgll4 |
A |
G |
6: 114,867,576 (GRCm39) |
|
probably null |
Het |
| Vmn1r65 |
T |
G |
7: 6,011,818 (GRCm39) |
I139L |
probably benign |
Het |
| Vps13b |
C |
T |
15: 35,456,824 (GRCm39) |
P757S |
probably benign |
Het |
| Ythdc2 |
G |
A |
18: 44,977,359 (GRCm39) |
G385E |
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 |
|
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 |
|
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- TTTTCCCAGACTGGACAGACAG -3'
(R):5'- ACATCTTTGTTTCTTGGGGACC -3'
Sequencing Primer
(F):5'- TGGACAGACAGCCCTCATG -3'
(R):5'- GACCACACTTACCTGGTGGTTTG -3'
|
| Posted On |
2016-06-21 |
Incidental Mutation