Incidental Mutation 'R5111:Kank3'
| ID |
393879 |
| 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 |
042699-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.082)
|
| Stock # |
R5111 (G1)
|
| Quality Score |
212 |
|
Status
|
Validated
|
| Chromosome |
17 |
| Chromosomal Location |
34029497-34041894 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 34037155 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 153
(E153G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000133760
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000048560]
[ENSMUST00000087342]
[ENSMUST00000166693]
[ENSMUST00000172649]
[ENSMUST00000173019]
[ENSMUST00000173789]
[ENSMUST00000173844]
[ENSMUST00000173879]
|
| AlphaFold |
Q9Z1P7 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000048560
AA Change: E341G
PolyPhen 2
Score 0.825 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000040126
Gene: ENSMUSG00000042099
AA Change: E341G
| 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 |
possibly damaging
Transcript: ENSMUST00000172649
AA Change: E153G
PolyPhen 2
Score 0.825 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000133760
Gene: ENSMUSG00000042099
AA Change: E153G
| 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: ENSMUST00000173480
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000173649
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000173958
|
| 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 |
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 |
|
| 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 |
|
| 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 |
|
| Meta Mutation Damage Score |
0.1491 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.2%
- 10x: 95.9%
- 20x: 91.0%
|
| Validation Efficiency |
100% (56/56) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 46 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abhd17c |
A |
T |
7: 83,800,646 (GRCm39) |
L136* |
probably null |
Het |
| Ankrd17 |
A |
T |
5: 90,390,858 (GRCm39) |
S2271T |
possibly damaging |
Het |
| Arhgef10 |
A |
G |
8: 14,982,408 (GRCm39) |
D179G |
probably benign |
Het |
| Bcan |
G |
T |
3: 87,901,514 (GRCm39) |
S396Y |
probably damaging |
Het |
| Btbd3 |
T |
A |
2: 138,120,829 (GRCm39) |
M1K |
probably null |
Het |
| Capns1 |
A |
G |
7: 29,891,944 (GRCm39) |
V106A |
probably benign |
Het |
| Ccnjl |
A |
G |
11: 43,447,544 (GRCm39) |
T76A |
probably benign |
Het |
| Cdc23 |
C |
A |
18: 34,784,742 (GRCm39) |
V7L |
unknown |
Het |
| Col6a6 |
C |
T |
9: 105,586,673 (GRCm39) |
V1783I |
possibly damaging |
Het |
| Crisp3 |
T |
C |
17: 40,536,695 (GRCm39) |
T207A |
possibly damaging |
Het |
| Crxos |
G |
A |
7: 15,630,142 (GRCm39) |
|
probably benign |
Het |
| Csf3r |
T |
C |
4: 125,923,861 (GRCm39) |
|
probably null |
Het |
| Cyp2a12 |
A |
G |
7: 26,736,046 (GRCm39) |
Y485C |
possibly damaging |
Het |
| Echdc2 |
A |
T |
4: 108,026,994 (GRCm39) |
|
probably benign |
Het |
| Elp3 |
A |
C |
14: 65,797,685 (GRCm39) |
Y329D |
probably damaging |
Het |
| Fbxw16 |
T |
C |
9: 109,265,796 (GRCm39) |
D341G |
probably benign |
Het |
| H2-Ab1 |
T |
A |
17: 34,486,456 (GRCm39) |
S172T |
probably damaging |
Het |
| Hyal2 |
T |
C |
9: 107,448,310 (GRCm39) |
V321A |
probably benign |
Het |
| Ighv6-3 |
A |
T |
12: 114,355,394 (GRCm39) |
S98R |
probably benign |
Het |
| Klrb1c |
C |
T |
6: 128,762,968 (GRCm39) |
R83H |
probably benign |
Het |
| Krtap16-1 |
T |
C |
11: 99,877,378 (GRCm39) |
K9E |
possibly damaging |
Het |
| Liph |
G |
A |
16: 21,802,820 (GRCm39) |
S83F |
probably damaging |
Het |
| Lnpep |
A |
G |
17: 17,798,872 (GRCm39) |
I261T |
possibly damaging |
Het |
| Mdm2 |
A |
T |
10: 117,527,126 (GRCm39) |
V273D |
possibly damaging |
Het |
| Mterf1a |
A |
G |
5: 3,941,860 (GRCm39) |
S3P |
probably benign |
Het |
| Myt1 |
A |
G |
2: 181,437,678 (GRCm39) |
T172A |
probably benign |
Het |
| Nufip2 |
T |
A |
11: 77,582,669 (GRCm39) |
S194R |
probably benign |
Het |
| Nusap1 |
T |
A |
2: 119,460,837 (GRCm39) |
L110* |
probably null |
Het |
| Palb2 |
A |
T |
7: 121,716,528 (GRCm39) |
C488* |
probably null |
Het |
| Pcdhac1 |
A |
T |
18: 37,224,558 (GRCm39) |
N457I |
probably damaging |
Het |
| Per1 |
A |
T |
11: 68,991,612 (GRCm39) |
S49C |
probably damaging |
Het |
| Ppargc1b |
A |
T |
18: 61,443,558 (GRCm39) |
I535N |
probably damaging |
Het |
| Rb1cc1 |
T |
C |
1: 6,284,858 (GRCm39) |
|
probably benign |
Het |
| Rpap1 |
A |
T |
2: 119,601,728 (GRCm39) |
L744Q |
probably damaging |
Het |
| Sdk1 |
A |
G |
5: 142,113,600 (GRCm39) |
E1549G |
probably damaging |
Het |
| Tnr |
C |
T |
1: 159,713,798 (GRCm39) |
T742I |
probably benign |
Het |
| Trp53bp1 |
A |
T |
2: 121,041,868 (GRCm39) |
H1229Q |
probably damaging |
Het |
| Unc80 |
A |
G |
1: 66,567,154 (GRCm39) |
H920R |
possibly damaging |
Het |
| Urb1 |
A |
C |
16: 90,548,905 (GRCm39) |
S2268A |
probably benign |
Het |
| Usp32 |
A |
T |
11: 84,968,157 (GRCm39) |
Y169N |
possibly damaging |
Het |
| Vmn2r18 |
A |
T |
5: 151,485,913 (GRCm39) |
M527K |
possibly damaging |
Het |
| Vmn2r93 |
A |
T |
17: 18,546,326 (GRCm39) |
I733F |
probably damaging |
Het |
| Vstm2l |
A |
G |
2: 157,777,389 (GRCm39) |
D89G |
probably damaging |
Het |
| Zdhhc8 |
G |
T |
16: 18,044,612 (GRCm39) |
Q303K |
probably benign |
Het |
| Zfand2a |
A |
G |
5: 139,459,509 (GRCm39) |
V159A |
probably benign |
Het |
| Zswim6 |
A |
G |
13: 107,865,170 (GRCm39) |
|
noncoding transcript |
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- AGAGGATCCCGACGGGTTG -3'
(R):5'- TGCAACCCAATGTAGTCTGG -3'
Sequencing Primer
(F):5'- AAGGAGCGCTGCAGGTG -3'
(R):5'- CCAATGTAGTCTGGGCAGCAAC -3'
|
| Posted On |
2016-06-15 |
Incidental Mutation