Mutagenetix > Incidental Mutation

Incidental Mutation 'R0330:Kank1'

26019

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

038539-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0330 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

25214339-25411860 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 25401677 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Glutamic Acid at position 1095 (K1095E)

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: K1067E

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000042177
Gene: ENSMUSG00000032702
AA Change: K1067E

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
AA Change: K1095E

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000116660
Gene: ENSMUSG00000032702
AA Change: K1095E

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000155788

Coding Region Coverage

1x: 98.8%
3x: 97.7%
10x: 94.7%
20x: 88.0%

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: 95 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acaa1b	T	C	9: 118,983,038 (GRCm39)	N120S	probably damaging	Het
Acsbg3	A	T	17: 57,190,631 (GRCm39)	I400F	probably benign	Het
Acvr1c	T	C	2: 58,174,850 (GRCm39)	T313A	probably damaging	Het
Adamtsl3	A	T	7: 82,171,198 (GRCm39)	D417V	probably damaging	Het
Adgrf4	A	T	17: 42,978,204 (GRCm39)	C380S	probably damaging	Het
AI597479	T	G	1: 43,150,277 (GRCm39)	L129R	probably benign	Het
AI661453	G	A	17: 47,757,571 (GRCm39)	R76Q	probably damaging	Het
Anpep	C	T	7: 79,488,004 (GRCm39)	E518K	probably benign	Het
Anxa7	A	C	14: 20,519,566 (GRCm39)		probably null	Het
Arhgap12	T	A	18: 6,039,382 (GRCm39)	D455V	probably damaging	Het
Arhgap22	A	G	14: 33,091,374 (GRCm39)	R650G	possibly damaging	Het
Arhgef12	A	C	9: 42,931,982 (GRCm39)	H168Q	probably damaging	Het
Arhgef2	A	G	3: 88,549,808 (GRCm39)	H592R	probably damaging	Het
BC049715	A	G	6: 136,817,035 (GRCm39)	T92A	possibly damaging	Het
Bcr	C	T	10: 75,017,466 (GRCm39)	T1209I	possibly damaging	Het
Bmpr1a	C	T	14: 34,151,734 (GRCm39)	S185N	probably benign	Het
Calcoco1	A	T	15: 102,624,198 (GRCm39)	M246K	probably benign	Het
Capn8	T	A	1: 182,457,703 (GRCm39)	I689N	probably benign	Het
Ccno	T	A	13: 113,126,530 (GRCm39)	L333Q	probably damaging	Het
Cep57	G	A	9: 13,728,281 (GRCm39)	R148W	probably damaging	Het
Cftr	T	A	6: 18,226,096 (GRCm39)	M318K	probably null	Het
Chd3	T	G	11: 69,247,159 (GRCm39)	D1003A	probably damaging	Het
Ckmt2	T	A	13: 92,011,322 (GRCm39)	D96V	possibly damaging	Het
Cldn13	A	G	5: 134,944,176 (GRCm39)	V3A	probably benign	Het
Col17a1	T	C	19: 47,658,871 (GRCm39)	T413A	probably benign	Het
Cpne5	A	T	17: 29,430,634 (GRCm39)	L92H	probably damaging	Het
Dnaaf2	C	A	12: 69,244,518 (GRCm39)	R181L	probably damaging	Het
Erbin	C	A	13: 104,005,373 (GRCm39)	C114F	probably damaging	Het
Fads2b	T	A	2: 85,348,895 (GRCm39)	R72S	probably benign	Het
Fanca	A	T	8: 124,000,911 (GRCm39)	C1156*	probably null	Het
Flot2	T	A	11: 77,949,784 (GRCm39)	I322N	possibly damaging	Het
Fstl5	T	C	3: 76,615,060 (GRCm39)	V707A	possibly damaging	Het
Gli3	T	G	13: 15,898,143 (GRCm39)	L741R	probably damaging	Het
Gmip	G	T	8: 70,263,468 (GRCm39)	S70I	probably benign	Het
Gnptab	T	C	10: 88,276,171 (GRCm39)	S1153P	probably damaging	Het
Gramd1a	T	C	7: 30,837,679 (GRCm39)	D360G	possibly damaging	Het
Gtf2i	T	C	5: 134,280,740 (GRCm39)	E518G	probably damaging	Het
Hsp90b1	T	C	10: 86,530,019 (GRCm39)	E226G	probably damaging	Het
Impg2	A	G	16: 56,072,627 (GRCm39)	Y353C	probably damaging	Het
Kcnh4	C	T	11: 100,648,569 (GRCm39)	C45Y	probably damaging	Het
Kif13b	A	G	14: 65,040,669 (GRCm39)	T1590A	probably benign	Het
Lpin3	T	C	2: 160,747,225 (GRCm39)	V827A	probably benign	Het
Lrp1b	A	T	2: 40,591,773 (GRCm39)	C73*	probably null	Het
Mcm8	A	G	2: 132,661,914 (GRCm39)	K83E	possibly damaging	Het
Med12l	A	G	3: 59,135,123 (GRCm39)	E757G	probably damaging	Het
Mep1a	A	G	17: 43,808,789 (GRCm39)		probably null	Het
Mtor	T	A	4: 148,568,837 (GRCm39)	V1119E	probably benign	Het
Mybpc2	C	T	7: 44,158,453 (GRCm39)	A710T	possibly damaging	Het
Myof	A	C	19: 37,924,326 (GRCm39)	I1297S	probably damaging	Het
Nacad	A	G	11: 6,550,903 (GRCm39)	S763P	probably benign	Het
Nbea	A	G	3: 55,550,238 (GRCm39)	V2730A	probably benign	Het
Nbeal1	A	G	1: 60,307,222 (GRCm39)	Y1684C	probably damaging	Het
Optn	A	T	2: 5,039,066 (GRCm39)	N352K	possibly damaging	Het
Or10k2	A	G	8: 84,268,142 (GRCm39)	Y123C	probably damaging	Het
Or2g1	A	T	17: 38,106,880 (GRCm39)	M182L	probably benign	Het
Or7g16	A	G	9: 18,726,937 (GRCm39)	Y218H	probably damaging	Het
Or9g4b	T	A	2: 85,616,147 (GRCm39)	C97*	probably null	Het
Pcif1	G	T	2: 164,731,364 (GRCm39)	R466L	probably damaging	Het
Phxr2	T	C	10: 98,961,979 (GRCm39)		probably benign	Het
Plaat5	T	A	19: 7,614,663 (GRCm39)		probably null	Het
Plb1	T	A	5: 32,512,701 (GRCm39)	F1353Y	probably damaging	Het
Plec	A	G	15: 76,075,618 (GRCm39)		probably null	Het
Polr1a	T	A	6: 71,943,400 (GRCm39)	C1212S	possibly damaging	Het
Primpol	A	T	8: 47,063,496 (GRCm39)	N53K	probably damaging	Het
Pygo2	T	A	3: 89,340,461 (GRCm39)	N286K	possibly damaging	Het
Rttn	G	A	18: 89,004,204 (GRCm39)		probably null	Het
Serpinb3b	G	T	1: 107,087,433 (GRCm39)	N25K	probably damaging	Het
Sidt2	A	G	9: 45,866,200 (GRCm39)	I2T	probably benign	Het
Slc12a3	A	T	8: 95,072,974 (GRCm39)	N699I	possibly damaging	Het
Slc25a30	G	A	14: 76,000,112 (GRCm39)	Q285*	probably null	Het
Slc4a9	A	T	18: 36,668,592 (GRCm39)	H724L	probably damaging	Het
Ssbp2	T	A	13: 91,828,698 (GRCm39)		probably null	Het
Stac3	C	A	10: 127,343,616 (GRCm39)		probably null	Het
Stk32a	A	G	18: 43,446,566 (GRCm39)	K339E	probably benign	Het
Stoml2	A	G	4: 43,030,238 (GRCm39)		probably null	Het
Syne2	G	T	12: 76,013,727 (GRCm39)	G2974C	probably benign	Het
Tbc1d16	A	G	11: 119,049,555 (GRCm39)		probably null	Het
Tfdp2	T	G	9: 96,188,946 (GRCm39)	F200V	probably damaging	Het
Tie1	C	A	4: 118,341,924 (GRCm39)	R175L	probably benign	Het
Trappc12	A	G	12: 28,797,259 (GRCm39)	V91A	probably benign	Het
Trim46	G	T	3: 89,143,820 (GRCm39)	P536Q	probably damaging	Het
Tshz3	T	A	7: 36,469,458 (GRCm39)	D482E	probably benign	Het
Tspan33	T	C	6: 29,711,091 (GRCm39)		probably null	Het
Unc80	T	C	1: 66,713,246 (GRCm39)	L2788P	possibly damaging	Het
Utp20	T	A	10: 88,653,841 (GRCm39)	T260S	probably benign	Het
Vmn2r118	G	T	17: 55,917,717 (GRCm39)	T265K	probably damaging	Het
Vmn2r98	A	C	17: 19,286,609 (GRCm39)	H369P	probably benign	Het
Vps39	A	T	2: 120,169,268 (GRCm39)	Y245N	possibly damaging	Het
Vps4a	A	C	8: 107,769,698 (GRCm39)	I336L	probably benign	Het
Xylb	T	C	9: 119,210,653 (GRCm39)	S379P	probably damaging	Het
Zbtb37	T	C	1: 160,860,066 (GRCm39)	T80A	probably benign	Het
Zfhx3	A	G	8: 109,675,589 (GRCm39)	D2213G	probably damaging	Het
Zfp729a	G	T	13: 67,768,473 (GRCm39)	H585Q	probably damaging	Het
Zfp804b	A	T	5: 6,821,029 (GRCm39)	I642N	possibly damaging	Het
Zfp804b	A	T	5: 6,821,994 (GRCm39)	N356K	possibly 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
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

Predicted Primers

PCR Primer
(F):5'- TGACGAATCCAGCTCGGATGGAAG -3'
(R):5'- ACTGAAAGGCACTGTACCCTGCAC -3'

Sequencing Primer
(F):5'- GGAAGCTCTTCTTCCGAGTCAG -3'
(R):5'- CATGCTTCTGAGACACGGATG -3'

Posted On

2013-04-16