Incidental Mutation 'R5865:Kank4'
| ID |
454117 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Kank4
|
| Ensembl Gene |
ENSMUSG00000035407 |
| Gene Name |
KN motif and ankyrin repeat domains 4 |
| Synonyms |
Ankrd38 |
| MMRRC Submission |
044074-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.072)
|
| Stock # |
R5865 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
4 |
| Chromosomal Location |
98643135-98705774 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 98659630 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Cysteine
at position 816
(Y816C)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000099851
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000102790]
|
| AlphaFold |
Q6P9J5 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000102790
AA Change: Y816C
PolyPhen 2
Score 0.496 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000099851
Gene: ENSMUSG00000035407
AA Change: Y816C
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:KN_motif
|
24 |
62 |
5.6e-26 |
PFAM |
|
low complexity region
|
280 |
295 |
N/A |
INTRINSIC |
|
low complexity region
|
300 |
320 |
N/A |
INTRINSIC |
|
coiled coil region
|
345 |
409 |
N/A |
INTRINSIC |
|
low complexity region
|
505 |
521 |
N/A |
INTRINSIC |
|
low complexity region
|
600 |
624 |
N/A |
INTRINSIC |
|
low complexity region
|
625 |
655 |
N/A |
INTRINSIC |
|
low complexity region
|
685 |
709 |
N/A |
INTRINSIC |
|
ANK
|
838 |
868 |
7.42e-4 |
SMART |
|
ANK
|
877 |
905 |
2.08e3 |
SMART |
|
ANK
|
910 |
939 |
1.11e-2 |
SMART |
|
ANK
|
943 |
973 |
8.99e-3 |
SMART |
|
ANK
|
977 |
1006 |
2.43e3 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000137270
|
| Meta Mutation Damage Score |
0.2447 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.4%
- 10x: 96.7%
- 20x: 88.7%
|
| Validation Efficiency |
91% (59/65) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 48 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Actl6a |
G |
A |
3: 32,766,277 (GRCm39) |
V48M |
possibly damaging |
Het |
| Adamts2 |
T |
G |
11: 50,694,781 (GRCm39) |
Y1189* |
probably null |
Het |
| Bpifb9a |
T |
C |
2: 154,108,756 (GRCm39) |
I419T |
probably benign |
Het |
| Ccbe1 |
A |
T |
18: 66,216,222 (GRCm39) |
I167N |
possibly damaging |
Het |
| Ccdc187 |
T |
C |
2: 26,183,380 (GRCm39) |
T207A |
probably benign |
Het |
| Cd300lf |
G |
A |
11: 115,017,126 (GRCm39) |
L66F |
probably damaging |
Het |
| Cenpk |
A |
G |
13: 104,372,702 (GRCm39) |
*92W |
probably null |
Het |
| Col12a1 |
A |
T |
9: 79,511,760 (GRCm39) |
S2950R |
probably benign |
Het |
| Dnah3 |
T |
C |
7: 119,574,331 (GRCm39) |
T2154A |
probably benign |
Het |
| Ebna1bp2 |
A |
T |
4: 118,478,332 (GRCm39) |
|
probably benign |
Het |
| Elac2 |
G |
T |
11: 64,888,783 (GRCm39) |
C532F |
probably benign |
Het |
| Fam171a1 |
T |
A |
2: 3,226,374 (GRCm39) |
D377E |
probably benign |
Het |
| Haus6 |
A |
G |
4: 86,504,594 (GRCm39) |
C466R |
possibly damaging |
Het |
| Il4ra |
T |
C |
7: 125,174,348 (GRCm39) |
S297P |
probably benign |
Het |
| Itgb4 |
C |
T |
11: 115,881,748 (GRCm39) |
R766W |
probably damaging |
Het |
| Kcnc4 |
A |
T |
3: 107,365,515 (GRCm39) |
|
probably null |
Het |
| Kif21b |
C |
T |
1: 136,078,875 (GRCm39) |
R408* |
probably null |
Het |
| Lrrc31 |
A |
G |
3: 30,733,289 (GRCm39) |
V475A |
probably benign |
Het |
| Map2k1 |
C |
T |
9: 64,098,548 (GRCm39) |
|
probably null |
Het |
| Mc3r |
T |
A |
2: 172,091,592 (GRCm39) |
N271K |
possibly damaging |
Het |
| Ms4a14 |
A |
G |
19: 11,281,581 (GRCm39) |
S326P |
possibly damaging |
Het |
| Muc6 |
T |
A |
7: 141,236,769 (GRCm39) |
I358F |
probably damaging |
Het |
| Myo5c |
A |
G |
9: 75,204,770 (GRCm39) |
D1541G |
probably damaging |
Het |
| Myof |
T |
C |
19: 37,899,382 (GRCm39) |
S1793G |
probably damaging |
Het |
| Nfkb1 |
T |
A |
3: 135,309,541 (GRCm39) |
T518S |
probably damaging |
Het |
| Nphs1 |
T |
A |
7: 30,173,810 (GRCm39) |
I989N |
probably damaging |
Het |
| Or5m12 |
T |
C |
2: 85,734,865 (GRCm39) |
T178A |
probably benign |
Het |
| Pcdha5 |
T |
C |
18: 37,094,474 (GRCm39) |
F328L |
probably benign |
Het |
| Pclo |
T |
A |
5: 14,764,492 (GRCm39) |
S4322T |
probably benign |
Het |
| Peg10 |
A |
G |
6: 4,754,375 (GRCm39) |
N52S |
probably damaging |
Het |
| Phf10 |
A |
C |
17: 15,175,272 (GRCm39) |
|
probably benign |
Het |
| Pip4p1 |
A |
G |
14: 51,166,332 (GRCm39) |
|
probably benign |
Het |
| Psme4 |
T |
C |
11: 30,741,993 (GRCm39) |
I152T |
possibly damaging |
Het |
| Ptpn18 |
T |
A |
1: 34,510,644 (GRCm39) |
|
probably benign |
Het |
| Rufy4 |
A |
T |
1: 74,185,914 (GRCm39) |
Y527F |
probably damaging |
Het |
| Snx32 |
T |
C |
19: 5,546,382 (GRCm39) |
M293V |
probably benign |
Het |
| Sorl1 |
A |
T |
9: 41,894,330 (GRCm39) |
L1827M |
possibly damaging |
Het |
| Sstr5 |
T |
A |
17: 25,710,218 (GRCm39) |
D337V |
probably benign |
Het |
| Tcaf3 |
A |
G |
6: 42,573,631 (GRCm39) |
F194L |
probably benign |
Het |
| Tcerg1 |
T |
A |
18: 42,669,413 (GRCm39) |
W459R |
probably damaging |
Het |
| Tet2 |
T |
A |
3: 133,192,860 (GRCm39) |
I525L |
probably benign |
Het |
| Trim43b |
C |
T |
9: 88,967,659 (GRCm39) |
V325I |
probably benign |
Het |
| Txndc11 |
A |
T |
16: 10,940,552 (GRCm39) |
I180K |
probably damaging |
Het |
| Vmn1r193 |
A |
G |
13: 22,403,395 (GRCm39) |
L199P |
probably damaging |
Het |
| Vmn2r110 |
A |
G |
17: 20,804,557 (GRCm39) |
M121T |
probably benign |
Het |
| Zfhx4 |
G |
C |
3: 5,467,719 (GRCm39) |
A2626P |
probably damaging |
Het |
| Zfp445 |
C |
T |
9: 122,682,552 (GRCm39) |
S463N |
probably benign |
Het |
| Zwilch |
T |
A |
9: 64,080,190 (GRCm39) |
|
probably null |
Het |
|
| Other mutations in Kank4 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01069:Kank4
|
APN |
4 |
98,666,632 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02634:Kank4
|
APN |
4 |
98,667,064 (GRCm39) |
missense |
probably benign |
0.06 |
|
IGL02883:Kank4
|
APN |
4 |
98,661,690 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R0040:Kank4
|
UTSW |
4 |
98,667,457 (GRCm39) |
missense |
probably benign |
0.03 |
|
R0040:Kank4
|
UTSW |
4 |
98,667,457 (GRCm39) |
missense |
probably benign |
0.03 |
|
R0081:Kank4
|
UTSW |
4 |
98,666,567 (GRCm39) |
missense |
probably benign |
0.02 |
|
R0219:Kank4
|
UTSW |
4 |
98,666,702 (GRCm39) |
missense |
probably benign |
0.06 |
|
R0498:Kank4
|
UTSW |
4 |
98,667,873 (GRCm39) |
missense |
probably benign |
|
|
R0609:Kank4
|
UTSW |
4 |
98,665,342 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0855:Kank4
|
UTSW |
4 |
98,659,681 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0865:Kank4
|
UTSW |
4 |
98,662,900 (GRCm39) |
splice site |
probably benign |
|
|
R0961:Kank4
|
UTSW |
4 |
98,644,756 (GRCm39) |
missense |
probably benign |
0.02 |
|
R1172:Kank4
|
UTSW |
4 |
98,653,806 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1173:Kank4
|
UTSW |
4 |
98,653,806 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1175:Kank4
|
UTSW |
4 |
98,653,806 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1381:Kank4
|
UTSW |
4 |
98,668,175 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R1517:Kank4
|
UTSW |
4 |
98,667,266 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R1573:Kank4
|
UTSW |
4 |
98,663,073 (GRCm39) |
nonsense |
probably null |
|
|
R1668:Kank4
|
UTSW |
4 |
98,667,133 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R2051:Kank4
|
UTSW |
4 |
98,668,339 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2253:Kank4
|
UTSW |
4 |
98,667,463 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2656:Kank4
|
UTSW |
4 |
98,667,194 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R3801:Kank4
|
UTSW |
4 |
98,668,370 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R3802:Kank4
|
UTSW |
4 |
98,668,370 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R3804:Kank4
|
UTSW |
4 |
98,668,370 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R3945:Kank4
|
UTSW |
4 |
98,659,517 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4172:Kank4
|
UTSW |
4 |
98,667,358 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4502:Kank4
|
UTSW |
4 |
98,665,335 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R4503:Kank4
|
UTSW |
4 |
98,665,335 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R5024:Kank4
|
UTSW |
4 |
98,673,898 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5105:Kank4
|
UTSW |
4 |
98,667,396 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5122:Kank4
|
UTSW |
4 |
98,644,804 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5255:Kank4
|
UTSW |
4 |
98,667,209 (GRCm39) |
missense |
probably benign |
|
|
R5484:Kank4
|
UTSW |
4 |
98,663,022 (GRCm39) |
missense |
probably benign |
|
|
R5517:Kank4
|
UTSW |
4 |
98,663,118 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5550:Kank4
|
UTSW |
4 |
98,659,678 (GRCm39) |
missense |
probably benign |
0.27 |
|
R5667:Kank4
|
UTSW |
4 |
98,653,698 (GRCm39) |
critical splice donor site |
probably null |
|
|
R5671:Kank4
|
UTSW |
4 |
98,653,698 (GRCm39) |
critical splice donor site |
probably null |
|
|
R6176:Kank4
|
UTSW |
4 |
98,653,791 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6778:Kank4
|
UTSW |
4 |
98,649,742 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7084:Kank4
|
UTSW |
4 |
98,659,582 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7085:Kank4
|
UTSW |
4 |
98,668,183 (GRCm39) |
missense |
probably benign |
|
|
R7112:Kank4
|
UTSW |
4 |
98,649,758 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8307:Kank4
|
UTSW |
4 |
98,666,915 (GRCm39) |
nonsense |
probably null |
|
|
R8431:Kank4
|
UTSW |
4 |
98,667,509 (GRCm39) |
missense |
probably benign |
0.33 |
|
R8447:Kank4
|
UTSW |
4 |
98,666,729 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8483:Kank4
|
UTSW |
4 |
98,659,615 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8505:Kank4
|
UTSW |
4 |
98,673,913 (GRCm39) |
start gained |
probably benign |
|
|
R8805:Kank4
|
UTSW |
4 |
98,668,273 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R8823:Kank4
|
UTSW |
4 |
98,668,240 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8888:Kank4
|
UTSW |
4 |
98,653,747 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R8895:Kank4
|
UTSW |
4 |
98,653,747 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R9155:Kank4
|
UTSW |
4 |
98,666,563 (GRCm39) |
missense |
probably benign |
|
|
R9189:Kank4
|
UTSW |
4 |
98,668,289 (GRCm39) |
nonsense |
probably null |
|
|
R9291:Kank4
|
UTSW |
4 |
98,666,688 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9509:Kank4
|
UTSW |
4 |
98,663,104 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R9618:Kank4
|
UTSW |
4 |
98,653,732 (GRCm39) |
missense |
possibly damaging |
0.76 |
|
X0027:Kank4
|
UTSW |
4 |
98,668,160 (GRCm39) |
missense |
probably benign |
0.00 |
|
Z1176:Kank4
|
UTSW |
4 |
98,666,531 (GRCm39) |
frame shift |
probably null |
|
|
| Predicted Primers |
PCR Primer
(F):5'- GTCGAATGACCTGGCTTTTCC -3'
(R):5'- TTGGGCATTGAATGTGCAGC -3'
Sequencing Primer
(F):5'- ACTGTAGTGCCAGCTACTCATGAG -3'
(R):5'- CATTGAATGTGCAGCAGGATTC -3'
|
| Posted On |
2017-02-10 |
Incidental Mutation