Mutagenetix > Incidental Mutation

Incidental Mutation 'R6504:Kank1'

523651

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

044636-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6504 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

25214339-25411860 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 25405518 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 1179 (S1179P)

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: S1179P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000042177
Gene: ENSMUSG00000032702
AA Change: S1179P

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000155788

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.3%
20x: 95.5%

Validation Efficiency

100% (35/35)

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: 37 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700006A11Rik	T	C	3: 124,213,569 (GRCm39)	T31A	probably benign	Het
Adam12	A	T	7: 133,531,713 (GRCm39)	H507Q	probably damaging	Het
Ampd1	A	G	3: 103,006,911 (GRCm39)	D712G	possibly damaging	Het
Ap4m1	T	A	5: 138,176,358 (GRCm39)	D351E	probably benign	Het
Celsr1	T	C	15: 85,863,121 (GRCm39)	T1304A	probably benign	Het
Dhx36	G	T	3: 62,396,060 (GRCm39)	A449E	probably benign	Het
Dmkn	A	T	7: 30,475,854 (GRCm39)	K2N	possibly damaging	Het
Dnah10	T	C	5: 124,839,846 (GRCm39)	I1217T	possibly damaging	Het
Dph5	A	G	3: 115,720,452 (GRCm39)		probably null	Het
Dysf	T	C	6: 83,985,907 (GRCm39)	V4A	probably benign	Het
Elavl4	A	T	4: 110,112,579 (GRCm39)		probably null	Het
Ep400	T	C	5: 110,856,703 (GRCm39)		probably benign	Het
Fat2	A	G	11: 55,153,223 (GRCm39)	I3663T	probably benign	Het
Gm7233	T	A	14: 43,037,394 (GRCm39)	D15E	probably benign	Het
Grik2	A	G	10: 49,232,198 (GRCm39)	V444A	probably damaging	Het
Hdac4	T	A	1: 91,896,177 (GRCm39)	I698F	possibly damaging	Het
Kif1b	T	C	4: 149,277,053 (GRCm39)	M1337V	probably benign	Het
Med13l	T	A	5: 118,892,386 (GRCm39)	D1936E	probably benign	Het
Ofcc1	A	T	13: 40,250,531 (GRCm39)	L595Q	probably damaging	Het
Or10d3	C	T	9: 39,461,574 (GRCm39)	V198M	probably damaging	Het
Or5b110-ps1	A	C	19: 13,259,848 (GRCm39)	H191Q	possibly damaging	Het
Orc1	A	G	4: 108,447,914 (GRCm39)	I54V	probably benign	Het
Pom121l2	A	G	13: 22,167,631 (GRCm39)	Q634R	possibly damaging	Het
Prrc2c	A	G	1: 162,525,364 (GRCm39)	V414A	unknown	Het
Ranbp3l	T	C	15: 8,997,946 (GRCm39)	F13L	probably benign	Het
Scaf11	T	C	15: 96,317,341 (GRCm39)		probably null	Het
Sh3d19	A	G	3: 85,992,643 (GRCm39)	T224A	probably benign	Het
Shq1	T	A	6: 100,625,208 (GRCm39)	Y217F	probably benign	Het
Slitrk1	A	T	14: 109,149,129 (GRCm39)	H527Q	probably benign	Het
Smap2	GACTCTAC	GAC	4: 120,830,282 (GRCm39)		probably benign	Het
Stxbp1	T	C	2: 32,691,895 (GRCm39)	I432M	possibly damaging	Het
Sulf2	A	G	2: 165,925,841 (GRCm39)	Y439H	probably benign	Het
Thoc5	T	A	11: 4,874,815 (GRCm39)	C535*	probably null	Het
Tlr3	T	C	8: 45,850,486 (GRCm39)	I280V	possibly damaging	Het
Ush2a	A	G	1: 188,643,444 (GRCm39)	S4269G	probably benign	Het
Vmn1r214	A	T	13: 23,219,610 (GRCm39)	*368L	probably null	Het
Wif1	C	G	10: 120,870,996 (GRCm39)	Q92E	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
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
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'- GAGGATCTGTCTGAACACCCTC -3'
(R):5'- GGCTTGAAGAACCTCAGGTC -3'

Sequencing Primer
(F):5'- TCCAGCACGATTGGTTCCGAG -3'
(R):5'- CAAACATTCTTGCCATGTCATGTGG -3'

Posted On

2018-06-22