Mutagenetix > Incidental Mutation

Incidental Mutation 'R6087:Kank1'

484628

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

044244-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6087 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

25214339-25411860 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 25387088 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Isoleucine at position 254 (V254I)

Ref Sequence

ENSEMBL: ENSMUSP00000116660 (fasta)

Gene Model

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

AlphaFold

E9Q238

Predicted Effect

probably benign
Transcript: ENSMUST00000049400
AA Change: V226I

PolyPhen 2 Score 0.177 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000042177
Gene: ENSMUSG00000032702
AA Change: V226I

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

noncoding transcript
Transcript: ENSMUST00000137260

Predicted Effect

probably benign
Transcript: ENSMUST00000146647
AA Change: V254I

PolyPhen 2 Score 0.405 (Sensitivity: 0.89; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000116660
Gene: ENSMUSG00000032702
AA Change: V254I

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: 99.9%
3x: 99.5%
10x: 97.6%
20x: 92.2%

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: 39 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310003L06Rik	A	G	5: 88,119,621 (GRCm39)	K126R	possibly damaging	Het
Adam7	A	T	14: 68,748,206 (GRCm39)	C548S	probably damaging	Het
Adar	C	A	3: 89,652,897 (GRCm39)	H260N	probably benign	Het
Ak9	A	G	10: 41,258,828 (GRCm39)	E775G	probably benign	Het
Arhgap35	T	C	7: 16,297,568 (GRCm39)	Y499C	probably damaging	Het
Bank1	A	G	3: 135,772,190 (GRCm39)	L480P	probably damaging	Het
Cep135	G	T	5: 76,763,638 (GRCm39)		probably null	Het
Cnga1	G	T	5: 72,768,155 (GRCm39)	A177E	probably damaging	Het
Cubn	T	A	2: 13,432,658 (GRCm39)	D1221V	probably damaging	Het
Cyp2d40	T	C	15: 82,648,205 (GRCm39)	Y36C	possibly damaging	Het
Dock8	C	A	19: 25,138,438 (GRCm39)	N1254K	probably benign	Het
Elapor2	T	C	5: 9,449,255 (GRCm39)	S128P	probably damaging	Het
Fam13b	C	T	18: 34,620,192 (GRCm39)	V231I	possibly damaging	Het
Fbxo8	T	A	8: 57,022,353 (GRCm39)	Y122N	probably damaging	Het
Fmo2	T	A	1: 162,708,002 (GRCm39)	I378F	probably benign	Het
Golga3	A	T	5: 110,352,812 (GRCm39)	Q861L	probably damaging	Het
Hjurp	GT	GTT	1: 88,194,246 (GRCm39)		probably null	Het
Ighv3-8	G	T	12: 114,286,000 (GRCm39)	A114E	probably damaging	Het
Itga3	C	T	11: 94,943,269 (GRCm39)		probably null	Het
Lipo5	A	T	19: 33,443,375 (GRCm39)	I147K	unknown	Het
Lrfn2	A	G	17: 49,378,154 (GRCm39)	S412G	probably benign	Het
Lrrn3	T	C	12: 41,503,534 (GRCm39)	N261S	possibly damaging	Het
Mical2	C	T	7: 111,917,692 (GRCm39)	Q350*	probably null	Het
Nras	T	C	3: 102,967,637 (GRCm39)	F78L	probably damaging	Het
Nudt9	A	G	5: 104,198,679 (GRCm39)	I65V	probably benign	Het
Or10ag59	A	G	2: 87,406,259 (GRCm39)	D277G	probably benign	Het
Or4f17-ps1	A	T	2: 111,358,526 (GRCm39)	E289V	possibly damaging	Het
Oscar	G	A	7: 3,614,311 (GRCm39)	P143S	probably benign	Het
Pla2g4d	C	T	2: 120,100,487 (GRCm39)	G615D	probably damaging	Het
Plekha1	T	G	7: 130,502,301 (GRCm39)	S175A	probably benign	Het
Psg27	T	C	7: 18,290,869 (GRCm39)	K445E	probably benign	Het
Rad51c	A	G	11: 87,271,705 (GRCm39)	Y318H	probably benign	Het
Ret	G	T	6: 118,153,252 (GRCm39)	T472K	possibly damaging	Het
Tarbp1	T	C	8: 127,155,709 (GRCm39)	D1343G	probably benign	Het
Top2b	C	A	14: 16,409,864 (GRCm38)	R844S	probably benign	Het
Vmn1r171	T	A	7: 23,332,429 (GRCm39)	M218K	probably damaging	Het
Vmn2r89	A	T	14: 51,695,033 (GRCm39)		probably null	Het
Zc3h13	T	A	14: 75,568,149 (GRCm39)	D1147E	probably damaging	Het
Zgrf1	T	A	3: 127,409,135 (GRCm39)	L1703H	probably damaging	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
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

Predicted Primers

PCR Primer
(F):5'- AAGACGTTGATGGAGACCCG -3'
(R):5'- CAAGACGGAGATCTTGACCTGG -3'

Sequencing Primer
(F):5'- TGGAACAGGAGCGAGTCACC -3'
(R):5'- GAGATCTTGACCTGGAGCAC -3'

Posted On

2017-08-16