Incidental Mutation 'R6942:Kank1'
| ID |
540628 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Kank1
|
| Ensembl Gene |
ENSMUSG00000032702 |
| Gene Name |
KN motif and ankyrin repeat domains 1 |
| Synonyms |
Ankrd15, D330024H06Rik, A930031B09Rik |
| MMRRC Submission |
045056-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R6942 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
19 |
| Chromosomal Location |
25214339-25411860 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 25401537 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Valine
at position 1048
(D1048V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000116660
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000049400]
[ENSMUST00000146647]
|
| AlphaFold |
E9Q238 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000049400
AA Change: D1020V
PolyPhen 2
Score 0.474 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000042177
Gene: ENSMUSG00000032702
AA Change: D1020V
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:KN_motif
|
30 |
68 |
3.3e-24 |
PFAM |
|
low complexity region
|
88 |
105 |
N/A |
INTRINSIC |
|
low complexity region
|
138 |
148 |
N/A |
INTRINSIC |
|
coiled coil region
|
286 |
314 |
N/A |
INTRINSIC |
|
low complexity region
|
350 |
358 |
N/A |
INTRINSIC |
|
coiled coil region
|
362 |
395 |
N/A |
INTRINSIC |
|
coiled coil region
|
451 |
494 |
N/A |
INTRINSIC |
|
low complexity region
|
541 |
556 |
N/A |
INTRINSIC |
|
low complexity region
|
617 |
629 |
N/A |
INTRINSIC |
|
Blast:ANK
|
963 |
993 |
7e-10 |
BLAST |
|
low complexity region
|
1010 |
1030 |
N/A |
INTRINSIC |
|
low complexity region
|
1074 |
1095 |
N/A |
INTRINSIC |
|
ANK
|
1169 |
1199 |
3.71e-4 |
SMART |
|
ANK
|
1203 |
1236 |
2.27e1 |
SMART |
|
ANK
|
1241 |
1270 |
1.33e-5 |
SMART |
|
ANK
|
1274 |
1306 |
5.84e-2 |
SMART |
|
ANK
|
1308 |
1336 |
4.86e1 |
SMART |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000146647
AA Change: D1048V
PolyPhen 2
Score 0.875 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000116660
Gene: ENSMUSG00000032702
AA Change: D1048V
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:KN_motif
|
58 |
96 |
2e-25 |
PFAM |
|
low complexity region
|
116 |
133 |
N/A |
INTRINSIC |
|
low complexity region
|
166 |
176 |
N/A |
INTRINSIC |
|
coiled coil region
|
314 |
342 |
N/A |
INTRINSIC |
|
low complexity region
|
378 |
386 |
N/A |
INTRINSIC |
|
coiled coil region
|
390 |
423 |
N/A |
INTRINSIC |
|
internal_repeat_1
|
430 |
479 |
3.72e-5 |
PROSPERO |
|
low complexity region
|
569 |
584 |
N/A |
INTRINSIC |
|
internal_repeat_1
|
587 |
636 |
3.72e-5 |
PROSPERO |
|
low complexity region
|
645 |
657 |
N/A |
INTRINSIC |
|
Blast:ANK
|
991 |
1021 |
4e-10 |
BLAST |
|
low complexity region
|
1038 |
1058 |
N/A |
INTRINSIC |
|
low complexity region
|
1102 |
1123 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.8%
- 10x: 98.9%
- 20x: 96.2%
|
| Validation Efficiency |
100% (49/49) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene belongs to the Kank family of proteins, which contain multiple ankyrin repeat domains. This family member functions in cytoskeleton formation by regulating actin polymerization. This gene is a candidate tumor suppressor for renal cell carcinoma. Mutations in this gene cause cerebral palsy spastic quadriplegic type 2, a central nervous system development disorder. A t(5;9) translocation results in fusion of the platelet-derived growth factor receptor beta gene (PDGFRB) on chromosome 5 with this gene in a myeloproliferative neoplasm featuring severe thrombocythemia. Alternative splicing of this gene results in multiple transcript variants. A related pseudogene has been identified on chromosome 20. [provided by RefSeq, Dec 2014]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 49 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acacb |
T |
C |
5: 114,330,024 (GRCm39) |
|
probably null |
Het |
| Adap2 |
A |
G |
11: 80,045,891 (GRCm39) |
D57G |
probably benign |
Het |
| Atmin |
G |
T |
8: 117,683,452 (GRCm39) |
V371F |
probably benign |
Het |
| Cacna1h |
G |
T |
17: 25,604,013 (GRCm39) |
A1273E |
probably benign |
Het |
| Cdh23 |
G |
A |
10: 60,274,635 (GRCm39) |
T483I |
possibly damaging |
Het |
| Cnot9 |
T |
A |
1: 74,558,154 (GRCm39) |
V100E |
probably damaging |
Het |
| Cog2 |
T |
A |
8: 125,271,875 (GRCm39) |
V463D |
probably benign |
Het |
| Crybg3 |
C |
T |
16: 59,360,183 (GRCm39) |
R2500H |
possibly damaging |
Het |
| Cyp11b2 |
G |
A |
15: 74,728,094 (GRCm39) |
|
probably benign |
Het |
| Cyp2j12 |
A |
T |
4: 96,001,101 (GRCm39) |
|
probably null |
Het |
| Dipk1c |
A |
C |
18: 84,748,549 (GRCm39) |
Y49S |
possibly damaging |
Het |
| Dlc1 |
T |
C |
8: 37,405,364 (GRCm39) |
K142E |
probably benign |
Het |
| Dpp6 |
G |
A |
5: 27,674,457 (GRCm39) |
V140M |
possibly damaging |
Het |
| Fktn |
G |
A |
4: 53,735,128 (GRCm39) |
|
probably null |
Het |
| Gas7 |
A |
T |
11: 67,550,977 (GRCm39) |
|
probably null |
Het |
| Grin3b |
T |
A |
10: 79,811,953 (GRCm39) |
|
probably null |
Het |
| Hhatl |
G |
A |
9: 121,617,246 (GRCm39) |
A329V |
probably benign |
Het |
| Homer3 |
C |
T |
8: 70,744,201 (GRCm39) |
T276I |
probably benign |
Het |
| Igdcc4 |
G |
A |
9: 65,027,550 (GRCm39) |
S204N |
probably benign |
Het |
| Ino80 |
A |
G |
2: 119,213,983 (GRCm39) |
F1196L |
probably damaging |
Het |
| Iqsec3 |
C |
T |
6: 121,450,062 (GRCm39) |
C154Y |
probably damaging |
Het |
| Kif2c |
A |
G |
4: 117,023,575 (GRCm39) |
L379P |
probably damaging |
Het |
| Kpna6 |
A |
T |
4: 129,545,514 (GRCm39) |
|
probably null |
Het |
| Large2 |
C |
T |
2: 92,201,167 (GRCm39) |
R28H |
probably damaging |
Het |
| Map4k2 |
T |
A |
19: 6,396,739 (GRCm39) |
W552R |
possibly damaging |
Het |
| Mark3 |
A |
G |
12: 111,559,088 (GRCm39) |
I43M |
probably null |
Het |
| Med13l |
C |
A |
5: 118,883,071 (GRCm39) |
|
probably null |
Het |
| Mtbp |
T |
A |
15: 55,430,596 (GRCm39) |
Y218N |
probably damaging |
Het |
| Or52n5 |
C |
T |
7: 104,588,104 (GRCm39) |
R124C |
possibly damaging |
Het |
| Pcdhgb5 |
T |
C |
18: 37,865,696 (GRCm39) |
L497P |
probably damaging |
Het |
| Pkhd1l1 |
A |
G |
15: 44,386,025 (GRCm39) |
T1221A |
probably damaging |
Het |
| Pth1r |
C |
T |
9: 110,557,084 (GRCm39) |
|
probably null |
Het |
| Samd8 |
T |
C |
14: 21,825,221 (GRCm39) |
I59T |
possibly damaging |
Het |
| Scgb2b18 |
A |
G |
7: 32,871,564 (GRCm39) |
V85A |
possibly damaging |
Het |
| Sema6c |
G |
T |
3: 95,080,519 (GRCm39) |
V906L |
probably benign |
Het |
| Semp2l2b |
A |
T |
10: 21,943,160 (GRCm39) |
D273E |
probably benign |
Het |
| Serpinb9g |
A |
T |
13: 33,678,888 (GRCm39) |
T253S |
probably benign |
Het |
| Sipa1l3 |
T |
C |
7: 29,085,516 (GRCm39) |
T694A |
probably damaging |
Het |
| Slc8a1 |
A |
G |
17: 81,715,549 (GRCm39) |
L828P |
probably damaging |
Het |
| Spry1 |
T |
A |
3: 37,697,193 (GRCm39) |
D145E |
probably benign |
Het |
| Stat6 |
A |
T |
10: 127,487,131 (GRCm39) |
N213Y |
probably damaging |
Het |
| Tep1 |
A |
G |
14: 51,074,194 (GRCm39) |
V1897A |
possibly damaging |
Het |
| Tmem45a |
T |
C |
16: 56,646,145 (GRCm39) |
N25S |
probably benign |
Het |
| Tmem70 |
T |
A |
1: 16,747,380 (GRCm39) |
Y166N |
probably damaging |
Het |
| Trrap |
T |
A |
5: 144,720,853 (GRCm39) |
I230N |
possibly damaging |
Het |
| Ttn |
A |
G |
2: 76,732,190 (GRCm39) |
|
probably benign |
Het |
| Unc79 |
T |
A |
12: 103,088,704 (GRCm39) |
|
probably null |
Het |
| Vmn1r43 |
T |
A |
6: 89,847,319 (GRCm39) |
I56F |
probably benign |
Het |
| Zfyve16 |
A |
T |
13: 92,653,139 (GRCm39) |
N815K |
probably benign |
Het |
|
| Other mutations in Kank1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00324:Kank1
|
APN |
19 |
25,389,122 (GRCm39) |
missense |
probably benign |
|
|
IGL00435:Kank1
|
APN |
19 |
25,407,600 (GRCm39) |
missense |
probably benign |
0.41 |
|
IGL01105:Kank1
|
APN |
19 |
25,401,680 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
IGL01974:Kank1
|
APN |
19 |
25,387,596 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
IGL02031:Kank1
|
APN |
19 |
25,388,066 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL02125:Kank1
|
APN |
19 |
25,388,067 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
IGL02152:Kank1
|
APN |
19 |
25,405,536 (GRCm39) |
missense |
possibly damaging |
0.51 |
|
IGL02211:Kank1
|
APN |
19 |
25,407,702 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02440:Kank1
|
APN |
19 |
25,410,272 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02448:Kank1
|
APN |
19 |
25,388,739 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02671:Kank1
|
APN |
19 |
25,405,459 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03102:Kank1
|
APN |
19 |
25,403,282 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03259:Kank1
|
APN |
19 |
25,407,705 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02802:Kank1
|
UTSW |
19 |
25,388,963 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0107:Kank1
|
UTSW |
19 |
25,407,730 (GRCm39) |
unclassified |
probably benign |
|
|
R0190:Kank1
|
UTSW |
19 |
25,386,647 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0330:Kank1
|
UTSW |
19 |
25,401,677 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0368:Kank1
|
UTSW |
19 |
25,387,967 (GRCm39) |
nonsense |
probably null |
|
|
R0399:Kank1
|
UTSW |
19 |
25,388,606 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0426:Kank1
|
UTSW |
19 |
25,388,837 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0483:Kank1
|
UTSW |
19 |
25,403,357 (GRCm39) |
unclassified |
probably benign |
|
|
R1394:Kank1
|
UTSW |
19 |
25,405,528 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1495:Kank1
|
UTSW |
19 |
25,387,713 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R1681:Kank1
|
UTSW |
19 |
25,387,668 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R1698:Kank1
|
UTSW |
19 |
25,388,681 (GRCm39) |
missense |
probably benign |
0.11 |
|
R1830:Kank1
|
UTSW |
19 |
25,388,396 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1866:Kank1
|
UTSW |
19 |
25,388,813 (GRCm39) |
missense |
probably benign |
0.04 |
|
R2138:Kank1
|
UTSW |
19 |
25,389,117 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2139:Kank1
|
UTSW |
19 |
25,389,117 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2420:Kank1
|
UTSW |
19 |
25,387,821 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3153:Kank1
|
UTSW |
19 |
25,388,052 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R4164:Kank1
|
UTSW |
19 |
25,388,436 (GRCm39) |
missense |
probably benign |
0.10 |
|
R4670:Kank1
|
UTSW |
19 |
25,387,944 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4685:Kank1
|
UTSW |
19 |
25,387,398 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
R4843:Kank1
|
UTSW |
19 |
25,408,371 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4981:Kank1
|
UTSW |
19 |
25,388,759 (GRCm39) |
missense |
probably benign |
0.19 |
|
R5189:Kank1
|
UTSW |
19 |
25,401,545 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5280:Kank1
|
UTSW |
19 |
25,388,669 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5330:Kank1
|
UTSW |
19 |
25,388,693 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5331:Kank1
|
UTSW |
19 |
25,388,693 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5435:Kank1
|
UTSW |
19 |
25,388,507 (GRCm39) |
missense |
probably benign |
0.04 |
|
R5500:Kank1
|
UTSW |
19 |
25,401,696 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
R5894:Kank1
|
UTSW |
19 |
25,401,564 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6087:Kank1
|
UTSW |
19 |
25,387,088 (GRCm39) |
missense |
probably benign |
0.41 |
|
R6357:Kank1
|
UTSW |
19 |
25,388,717 (GRCm39) |
missense |
probably benign |
0.36 |
|
R6490:Kank1
|
UTSW |
19 |
25,387,449 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6504:Kank1
|
UTSW |
19 |
25,405,518 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7037:Kank1
|
UTSW |
19 |
25,407,705 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7405:Kank1
|
UTSW |
19 |
25,387,683 (GRCm39) |
nonsense |
probably null |
|
|
R7486:Kank1
|
UTSW |
19 |
25,388,193 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7602:Kank1
|
UTSW |
19 |
25,399,525 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7701:Kank1
|
UTSW |
19 |
25,389,129 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7765:Kank1
|
UTSW |
19 |
25,388,569 (GRCm39) |
frame shift |
probably null |
|
|
R7766:Kank1
|
UTSW |
19 |
25,388,569 (GRCm39) |
frame shift |
probably null |
|
|
R7768:Kank1
|
UTSW |
19 |
25,388,569 (GRCm39) |
frame shift |
probably null |
|
|
R7919:Kank1
|
UTSW |
19 |
25,408,439 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7974:Kank1
|
UTSW |
19 |
25,401,584 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7978:Kank1
|
UTSW |
19 |
25,388,569 (GRCm39) |
frame shift |
probably null |
|
|
R8017:Kank1
|
UTSW |
19 |
25,388,569 (GRCm39) |
frame shift |
probably null |
|
|
R8017:Kank1
|
UTSW |
19 |
25,388,568 (GRCm39) |
frame shift |
probably null |
|
|
R8020:Kank1
|
UTSW |
19 |
25,388,569 (GRCm39) |
frame shift |
probably null |
|
|
R8150:Kank1
|
UTSW |
19 |
25,388,163 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R8322:Kank1
|
UTSW |
19 |
25,355,842 (GRCm39) |
start gained |
probably benign |
|
|
R8374:Kank1
|
UTSW |
19 |
25,389,005 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R8705:Kank1
|
UTSW |
19 |
25,388,907 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8855:Kank1
|
UTSW |
19 |
25,388,702 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R8866:Kank1
|
UTSW |
19 |
25,388,702 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R8891:Kank1
|
UTSW |
19 |
25,387,439 (GRCm39) |
missense |
probably benign |
0.32 |
|
R8894:Kank1
|
UTSW |
19 |
25,408,378 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8917:Kank1
|
UTSW |
19 |
25,386,928 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9217:Kank1
|
UTSW |
19 |
25,386,944 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R9301:Kank1
|
UTSW |
19 |
25,388,798 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9431:Kank1
|
UTSW |
19 |
25,387,866 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9603:Kank1
|
UTSW |
19 |
25,408,289 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R9680:Kank1
|
UTSW |
19 |
25,388,138 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9746:Kank1
|
UTSW |
19 |
25,386,872 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- AAAGCCCATTGTAAACTTACCAGG -3'
(R):5'- CTCACATTCTGGAACCTGCAC -3'
Sequencing Primer
(F):5'- GGCCTTCAAATAGACCTTGCTTTGAG -3'
(R):5'- ACATTCTGGAACCTGCACTTCATC -3'
|
| Posted On |
2018-11-06 |
Incidental Mutation