Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03259:Kank1'

414761

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Kank1

Ensembl Gene

ENSMUSG00000032702

Gene Name

KN motif and ankyrin repeat domains 1

Synonyms

Ankrd15, D330024H06Rik, A930031B09Rik

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL03259

Quality Score

Status

Chromosome

Chromosomal Location

25214339-25411860 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 25407705 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 1233 (D1233G)

Ref Sequence

ENSEMBL: ENSMUSP00000042177 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000049400] [ENSMUST00000146647]

AlphaFold

E9Q238

Predicted Effect

probably damaging
Transcript: ENSMUST00000049400
AA Change: D1233G

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000042177
Gene: ENSMUSG00000032702
AA Change: D1233G

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

probably benign
Transcript: ENSMUST00000146647

SMART Domains

Protein: ENSMUSP00000116660
Gene: ENSMUSG00000032702

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

Validation Efficiency

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: 26 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Atp8a1	T	C	5: 67,781,349 (GRCm39)		probably null	Het
Btbd3	T	C	2: 138,121,680 (GRCm39)	M121T	probably damaging	Het
Cep192	A	T	18: 67,953,483 (GRCm39)	N500I	probably damaging	Het
Clca4a	A	G	3: 144,663,841 (GRCm39)	L534P	probably damaging	Het
Cyp2d11	C	T	15: 82,274,221 (GRCm39)	V387M	probably damaging	Het
Dlgap3	T	C	4: 127,094,077 (GRCm39)	I443T	probably benign	Het
Heatr5b	T	A	17: 79,098,985 (GRCm39)	D1305V	probably damaging	Het
Hps5	G	T	7: 46,412,526 (GRCm39)	P1021Q	probably damaging	Het
Iqca1	T	C	1: 89,980,156 (GRCm39)	D637G	probably damaging	Het
Lad1	A	T	1: 135,755,394 (GRCm39)	R223S	probably benign	Het
Ms4a13	A	G	19: 11,161,210 (GRCm39)	S110P	probably damaging	Het
Nmd3	T	A	3: 69,652,576 (GRCm39)	D387E	possibly damaging	Het
Or1m1	A	G	9: 18,666,811 (GRCm39)	V40A	probably benign	Het
Or7a41	C	A	10: 78,871,234 (GRCm39)	Y201*	probably null	Het
Or8k3b	G	T	2: 86,520,894 (GRCm39)	Q142K	probably benign	Het
Pcgf5	T	A	19: 36,433,059 (GRCm39)	D234E	probably benign	Het
Pcnx2	T	A	8: 126,480,388 (GRCm39)	H1973L	probably benign	Het
Peak1	A	G	9: 56,167,251 (GRCm39)	F226L	probably damaging	Het
Pgp	A	G	17: 24,690,022 (GRCm39)	K180R	probably damaging	Het
Sdk1	A	T	5: 141,938,788 (GRCm39)	K404*	probably null	Het
Serinc5	T	A	13: 92,827,500 (GRCm39)	V272D	probably damaging	Het
Slc4a5	A	G	6: 83,247,979 (GRCm39)	H395R	probably damaging	Het
Spice1	T	A	16: 44,176,530 (GRCm39)	V40D	probably damaging	Het
Syne2	A	G	12: 76,035,853 (GRCm39)	I3713M	probably benign	Het
Vmn1r58	A	T	7: 5,414,086 (GRCm39)	L48*	probably null	Het
Vwa7	A	G	17: 35,239,002 (GRCm39)		probably null	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
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
R6942:Kank1	UTSW	19	25,401,537 (GRCm39)	missense	possibly damaging	0.88
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

Posted On

2016-08-02