Mutagenetix > Incidental Mutation

Incidental Mutation 'R4164:Kank1'

321680

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

041638-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4164 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

25214339-25411860 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 25388436 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 703 (D703G)

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: D675G

PolyPhen 2 Score 0.018 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000042177
Gene: ENSMUSG00000032702
AA Change: D675G

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: D703G

PolyPhen 2 Score 0.097 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000116660
Gene: ENSMUSG00000032702
AA Change: D703G

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

Meta Mutation Damage Score

0.0806

Coding Region Coverage

1x: 99.2%
3x: 98.7%
10x: 97.4%
20x: 95.7%

Validation Efficiency

89% (40/45)

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
Acap1	C	T	11: 69,780,863 (GRCm39)	A164T	probably benign	Het
Ash1l	A	G	3: 88,889,273 (GRCm39)	D384G	probably damaging	Het
Cntn5	A	G	9: 9,781,681 (GRCm39)	V666A	probably damaging	Het
Defb41	C	T	1: 18,330,821 (GRCm39)	C42Y	probably damaging	Het
Dennd4c	C	A	4: 86,725,764 (GRCm39)	N739K	probably benign	Het
Dnah6	C	T	6: 73,066,575 (GRCm39)	W2598*	probably null	Het
Ell	G	T	8: 71,034,223 (GRCm39)	R30L	probably damaging	Het
Entrep1	G	A	19: 23,952,993 (GRCm39)	A439V	probably damaging	Het
Entrep1	C	T	19: 23,953,002 (GRCm39)	S436N	probably damaging	Het
Fer1l6	A	C	15: 58,431,087 (GRCm39)	R247S	possibly damaging	Het
Flnb	A	T	14: 7,915,374 (GRCm38)	I1502F	possibly damaging	Het
Gkn3	C	T	6: 87,360,507 (GRCm39)	A163T	probably damaging	Het
Gm2223	C	T	X: 32,943,247 (GRCm39)		noncoding transcript	Het
Ifi203	A	T	1: 173,756,029 (GRCm39)		probably benign	Het
Ighm	T	A	12: 113,385,915 (GRCm39)	E108V	unknown	Het
Il23r	T	A	6: 67,400,647 (GRCm39)	Q561L	probably benign	Het
Kcnt2	A	T	1: 140,537,368 (GRCm39)	Y1109F	probably damaging	Het
Lamb2	T	A	9: 108,367,497 (GRCm39)	Y1760N	probably damaging	Het
Lrpprc	T	C	17: 85,038,617 (GRCm39)	E950G	possibly damaging	Het
Lrrc66	T	A	5: 73,787,119 (GRCm39)		probably null	Het
Mtbp	T	C	15: 55,472,917 (GRCm39)	V627A	probably benign	Het
Myo10	T	A	15: 25,726,501 (GRCm39)		probably null	Het
Nfix	CAAAAA	CAAAA	8: 85,442,876 (GRCm39)		probably null	Het
Nipbl	T	C	15: 8,368,418 (GRCm39)	N1142S	probably benign	Het
Nrxn2	G	A	19: 6,582,173 (GRCm39)	V660I	probably damaging	Het
Oas1c	T	C	5: 120,946,204 (GRCm39)	E98G	probably damaging	Het
Or8a1b	T	G	9: 37,622,994 (GRCm39)	I194L	probably benign	Het
Otx1	A	G	11: 21,946,638 (GRCm39)		probably benign	Het
Prkcd	A	G	14: 30,323,154 (GRCm39)	F461L	probably damaging	Het
Prune2	T	C	19: 16,981,098 (GRCm39)	F85S	possibly damaging	Het
Rnf214	G	A	9: 45,783,210 (GRCm39)	R184W	probably damaging	Het
Scn5a	T	C	9: 119,324,844 (GRCm39)	N1328S	probably damaging	Het
Secisbp2l	T	C	2: 125,593,803 (GRCm39)		probably benign	Het
Smarcal1	A	G	1: 72,665,848 (GRCm39)		probably benign	Het
Snx21	T	C	2: 164,628,770 (GRCm39)	Y138H	probably damaging	Het
Sox5	T	A	6: 144,062,206 (GRCm39)	R149W	probably damaging	Het
Spout1	C	T	2: 30,067,589 (GRCm39)		probably benign	Het
Tlr1	A	G	5: 65,084,545 (GRCm39)	C11R	possibly damaging	Het
Vmn2r23	A	T	6: 123,706,697 (GRCm39)	H509L	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
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'- GCGACCTGACACTCCTTAAGAC -3'
(R):5'- CAGAATTGCCAGACAGCACTG -3'

Sequencing Primer
(F):5'- CTGACACTCCTTAAGACAAACTTG -3'
(R):5'- ACCAACGGACCGAGTCTTAGTG -3'

Posted On

2015-06-12