Incidental Mutation 'R5752:Kank3'
| ID |
444868 |
| 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 |
043357-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.082)
|
| Stock # |
R5752 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
17 |
| Chromosomal Location |
34029497-34041894 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 34037037 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 114
(T114A)
|
| 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 |
probably benign
Transcript: ENSMUST00000048560
AA Change: T302A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000040126
Gene: ENSMUSG00000042099
AA Change: T302A
| 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 benign
Transcript: ENSMUST00000172649
AA Change: T114A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000133760
Gene: ENSMUSG00000042099
AA Change: T114A
| 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: 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 |
|
| 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 |
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.6%
- 20x: 96.1%
|
| Validation Efficiency |
98% (58/59) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 52 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A330017A19Rik |
C |
A |
17: 47,200,966 (GRCm39) |
|
probably benign |
Het |
| Aldh1l2 |
C |
A |
10: 83,356,244 (GRCm39) |
G49C |
probably damaging |
Het |
| Arhgap26 |
G |
A |
18: 39,419,725 (GRCm39) |
E11K |
probably damaging |
Het |
| Asns |
C |
T |
6: 7,689,365 (GRCm39) |
G46S |
probably damaging |
Het |
| Atrn |
G |
T |
2: 130,748,464 (GRCm39) |
|
probably benign |
Het |
| Cep126 |
A |
C |
9: 8,120,746 (GRCm39) |
Y92* |
probably null |
Het |
| Cfap69 |
T |
C |
5: 5,639,204 (GRCm39) |
T567A |
probably damaging |
Het |
| Clgn |
T |
A |
8: 84,123,670 (GRCm39) |
Y61N |
probably damaging |
Het |
| Col28a1 |
T |
G |
6: 8,015,025 (GRCm39) |
K793N |
possibly damaging |
Het |
| Cxcl9 |
C |
A |
5: 92,471,715 (GRCm39) |
M108I |
probably benign |
Het |
| Cyp4f37 |
A |
T |
17: 32,850,306 (GRCm39) |
I318F |
probably damaging |
Het |
| Daam1 |
T |
C |
12: 71,993,320 (GRCm39) |
M363T |
unknown |
Het |
| Dnajc13 |
A |
C |
9: 104,069,973 (GRCm39) |
|
probably null |
Het |
| Entpd2 |
G |
A |
2: 25,289,781 (GRCm39) |
|
probably benign |
Het |
| F3 |
T |
A |
3: 121,526,053 (GRCm39) |
N205K |
probably damaging |
Het |
| Fat2 |
A |
T |
11: 55,180,063 (GRCm39) |
F1426Y |
possibly damaging |
Het |
| Galnt6 |
A |
T |
15: 100,602,007 (GRCm39) |
F267I |
probably damaging |
Het |
| Gm1322 |
G |
A |
2: 67,014,979 (GRCm39) |
|
noncoding transcript |
Het |
| Hdgfl3 |
A |
C |
7: 81,549,451 (GRCm39) |
S143A |
possibly damaging |
Het |
| Ints7 |
T |
A |
1: 191,308,005 (GRCm39) |
D12E |
probably benign |
Het |
| Lrp1b |
A |
G |
2: 41,185,624 (GRCm39) |
Y1364H |
probably damaging |
Het |
| Mef2b |
A |
G |
8: 70,618,267 (GRCm39) |
T116A |
possibly damaging |
Het |
| Megf8 |
C |
T |
7: 25,054,539 (GRCm39) |
T1885I |
probably damaging |
Het |
| Mrps11 |
A |
G |
7: 78,433,343 (GRCm39) |
K30E |
probably benign |
Het |
| Naca |
T |
A |
10: 127,877,797 (GRCm39) |
|
probably benign |
Het |
| Ncoa4-ps |
A |
G |
12: 119,226,349 (GRCm39) |
|
noncoding transcript |
Het |
| Nhsl3 |
GGTG |
GGTGTG |
4: 129,117,773 (GRCm39) |
|
probably null |
Het |
| Or2at1 |
T |
C |
7: 99,417,155 (GRCm39) |
I262T |
probably benign |
Het |
| Paip2b |
C |
T |
6: 83,808,252 (GRCm39) |
|
probably null |
Het |
| Plcb2 |
G |
T |
2: 118,541,532 (GRCm39) |
|
probably benign |
Het |
| Plcd4 |
A |
G |
1: 74,587,131 (GRCm39) |
|
probably null |
Het |
| Pnpla8 |
A |
G |
12: 44,329,670 (GRCm39) |
N74S |
probably benign |
Het |
| Pot1b |
A |
T |
17: 55,994,834 (GRCm39) |
I276N |
probably damaging |
Het |
| Qprt |
C |
T |
7: 126,708,416 (GRCm39) |
G5D |
probably benign |
Het |
| Rab11fip1 |
T |
C |
8: 27,646,614 (GRCm39) |
N154S |
probably damaging |
Het |
| Rin3 |
G |
A |
12: 102,279,378 (GRCm39) |
|
probably benign |
Het |
| Sdf4 |
C |
T |
4: 156,080,761 (GRCm39) |
P37S |
probably damaging |
Het |
| Selp |
A |
T |
1: 163,964,811 (GRCm39) |
D491V |
probably damaging |
Het |
| Sh3gl3 |
A |
G |
7: 81,824,696 (GRCm39) |
|
probably benign |
Het |
| Sp110 |
G |
C |
1: 85,504,923 (GRCm39) |
|
probably benign |
Het |
| Spata31d1e |
T |
C |
13: 59,891,016 (GRCm39) |
Y268C |
probably damaging |
Het |
| Tas2r134 |
A |
G |
2: 51,517,880 (GRCm39) |
R120G |
probably damaging |
Het |
| Tgfbr3 |
T |
C |
5: 107,287,673 (GRCm39) |
R509G |
probably benign |
Het |
| Tle3 |
T |
A |
9: 61,314,753 (GRCm39) |
Y231N |
probably damaging |
Het |
| Top6bl |
C |
A |
19: 4,676,048 (GRCm39) |
A695S |
probably benign |
Het |
| Ttc41 |
C |
T |
10: 86,594,210 (GRCm39) |
T881I |
probably benign |
Het |
| Ttll8 |
T |
C |
15: 88,816,931 (GRCm39) |
Y271C |
probably benign |
Het |
| Ttn |
A |
T |
2: 76,778,328 (GRCm39) |
I1307K |
possibly damaging |
Het |
| Ube2k |
A |
G |
5: 65,723,411 (GRCm39) |
D48G |
probably damaging |
Het |
| Vcan |
T |
C |
13: 89,828,069 (GRCm39) |
T3126A |
probably damaging |
Het |
| Vps13d |
T |
C |
4: 144,875,540 (GRCm39) |
T1656A |
probably benign |
Het |
| Zzz3 |
C |
A |
3: 152,157,759 (GRCm39) |
S777R |
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 |
|
|
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 |
|
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'- CTGCAGCTAGTGAGGGAGC -3'
(R):5'- GCTGATGCTCCAAGCTGGTG -3'
Sequencing Primer
(F):5'- CGCGTGCAGCCAGAACAAG -3'
(R):5'- TCCAAGCTGGTGCGGAG -3'
|
| Posted On |
2016-11-21 |
Incidental Mutation