Incidental Mutation 'R5282:Kank3'
| ID |
402839 |
| 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 |
042867-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.082)
|
| Stock # |
R5282 (G1)
|
| Quality Score |
103 |
|
Status
|
Not validated
|
| Chromosome |
17 |
| Chromosomal Location |
34029497-34041894 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 34036917 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 74
(S74P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000133760
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000048560]
[ENSMUST00000172649]
[ENSMUST00000173019]
[ENSMUST00000173789]
|
| AlphaFold |
Q9Z1P7 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000048560
AA Change: S262P
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000040126
Gene: ENSMUSG00000042099
AA Change: S262P
| 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
AA Change: S74P
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000133760
Gene: ENSMUSG00000042099
AA Change: S74P
| 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 |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 96.0%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 39 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700102P08Rik |
T |
A |
9: 108,270,439 (GRCm39) |
M1K |
probably null |
Het |
| 2810021J22Rik |
T |
C |
11: 58,771,166 (GRCm39) |
L216S |
possibly damaging |
Het |
| 4933405O20Rik |
G |
A |
7: 50,249,220 (GRCm39) |
E85K |
possibly damaging |
Het |
| Agrn |
A |
G |
4: 156,257,492 (GRCm39) |
F1153L |
probably damaging |
Het |
| Cbx8 |
A |
G |
11: 118,929,742 (GRCm39) |
S284P |
probably damaging |
Het |
| Cep128 |
A |
G |
12: 91,305,893 (GRCm39) |
L170P |
probably damaging |
Het |
| Cyp4f14 |
T |
A |
17: 33,126,959 (GRCm39) |
T324S |
probably damaging |
Het |
| Daw1 |
G |
T |
1: 83,170,419 (GRCm39) |
V244L |
probably benign |
Het |
| Eef2kmt |
A |
G |
16: 5,063,222 (GRCm39) |
V306A |
probably benign |
Het |
| Enah |
A |
T |
1: 181,763,293 (GRCm39) |
|
probably null |
Het |
| Fam171b |
T |
C |
2: 83,683,949 (GRCm39) |
|
probably null |
Het |
| Fsip2 |
C |
T |
2: 82,808,925 (GRCm39) |
T1748I |
possibly damaging |
Het |
| Gabrg2 |
C |
T |
11: 41,862,559 (GRCm39) |
G175D |
probably damaging |
Het |
| Gtf2h3 |
C |
T |
5: 124,722,360 (GRCm39) |
T121I |
probably benign |
Het |
| Hmcn1 |
G |
T |
1: 150,458,047 (GRCm39) |
N33K |
probably damaging |
Het |
| Incenp |
T |
A |
19: 9,855,770 (GRCm39) |
E514V |
unknown |
Het |
| Lrriq1 |
G |
T |
10: 103,051,206 (GRCm39) |
N515K |
probably benign |
Het |
| Mfsd13b |
G |
A |
7: 120,591,056 (GRCm39) |
D266N |
probably damaging |
Het |
| Neto1 |
T |
C |
18: 86,422,998 (GRCm39) |
Y152H |
probably damaging |
Het |
| Nub1 |
C |
A |
5: 24,900,533 (GRCm39) |
F145L |
probably benign |
Het |
| Nufip1 |
T |
C |
14: 76,351,715 (GRCm39) |
|
probably null |
Het |
| Pard6g |
T |
A |
18: 80,123,116 (GRCm39) |
V50E |
probably benign |
Het |
| Polr3a |
T |
C |
14: 24,505,009 (GRCm39) |
I1084V |
possibly damaging |
Het |
| Rapgef5 |
A |
C |
12: 117,703,379 (GRCm39) |
N431T |
probably damaging |
Het |
| Rassf9 |
A |
T |
10: 102,381,205 (GRCm39) |
T196S |
probably damaging |
Het |
| Rrp12 |
T |
C |
19: 41,865,029 (GRCm39) |
Y764C |
probably benign |
Het |
| Slfn8 |
T |
C |
11: 82,908,550 (GRCm39) |
|
probably null |
Het |
| Smox |
T |
A |
2: 131,363,026 (GRCm39) |
V265D |
probably damaging |
Het |
| Sult1b1 |
T |
C |
5: 87,678,510 (GRCm39) |
I105V |
probably benign |
Het |
| Sycp2 |
T |
C |
2: 178,045,554 (GRCm39) |
D22G |
probably damaging |
Het |
| Tbck |
G |
A |
3: 132,456,977 (GRCm39) |
M630I |
possibly damaging |
Het |
| Tenm4 |
G |
C |
7: 96,486,538 (GRCm39) |
G965R |
possibly damaging |
Het |
| Trappc10 |
G |
A |
10: 78,023,694 (GRCm39) |
T1258I |
probably damaging |
Het |
| Tssk1 |
G |
A |
16: 17,713,123 (GRCm39) |
G303S |
probably benign |
Het |
| Tstd2 |
T |
C |
4: 46,120,461 (GRCm39) |
Y313C |
probably damaging |
Het |
| Usp42 |
G |
A |
5: 143,707,401 (GRCm39) |
T260M |
probably damaging |
Het |
| Wdr43 |
T |
A |
17: 71,955,772 (GRCm39) |
V479E |
probably damaging |
Het |
| Xpo7 |
G |
A |
14: 70,921,171 (GRCm39) |
T599I |
probably damaging |
Het |
| Zfp553 |
A |
G |
7: 126,836,013 (GRCm39) |
K523E |
probably benign |
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 |
|
R5147:Kank3
|
UTSW |
17 |
34,041,176 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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'- ACACGCTCTTGGAGACCAG -3'
(R):5'- GTCCACCTCAACGGTCTCAG -3'
Sequencing Primer
(F):5'- TCTTGGAGACCAGCCGAC -3'
(R):5'- CCTGTCTCGGGTACTGCCTG -3'
|
| Posted On |
2016-07-22 |
Incidental Mutation