Mutagenetix > Incidental Mutation

Incidental Mutation 'R0054:Kank2'

40995

Institutional Source

Beutler Lab

Gene Symbol

Kank2

Ensembl Gene

ENSMUSG00000032194

Gene Name

KN motif and ankyrin repeat domains 2

Synonyms

Ankrd25

MMRRC Submission

038348-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.242) question?

Stock #

R0054 (G1)

Quality Score

207

Status

Validated

Chromosome

Chromosomal Location

21678069-21709842 bp(-) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

G to A at 21685970 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Stop codon at position 635 (R635*)

Ref Sequence

ENSEMBL: ENSMUSP00000034717 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000034717] [ENSMUST00000216008]

AlphaFold

Q8BX02

Predicted Effect

probably null
Transcript: ENSMUST00000034717
AA Change: R635*

SMART Domains

Protein: ENSMUSP00000034717
Gene: ENSMUSG00000032194
AA Change: R635*

Domain	Start	End	E-Value	Type
Pfam:KN_motif	31	69	9.6e-26	PFAM
low complexity region	139	157	N/A	INTRINSIC
coiled coil region	213	229	N/A	INTRINSIC
coiled coil region	284	316	N/A	INTRINSIC
low complexity region	324	343	N/A	INTRINSIC
low complexity region	457	470	N/A	INTRINSIC
ANK	658	688	6.36e-3	SMART
ANK	692	725	7.29e2	SMART
ANK	730	759	4.97e-5	SMART
ANK	763	793	3.85e-2	SMART
ANK	797	825	1.06e1	SMART

Predicted Effect

silent
Transcript: ENSMUST00000216008

Meta Mutation Damage Score

0.9755

Coding Region Coverage

1x: 99.3%
3x: 98.6%
10x: 96.9%
20x: 94.5%

Validation Efficiency

99% (83/84)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the KN motif and ankyrin repeat domains (KANK) family of proteins, which play a role in cytoskeletal formation by regulating actin polymerization. The encoded protein functions in the sequestration of steroid receptor coactivators and possibly other proteins. Mutations in this gene are associated with impaired kidney podocyte function and nephrotic syndrome, and keratoderma and woolly hair. [provided by RefSeq, Jul 2016]

Allele List at MGI

Other mutations in this stock

Total: 83 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc9	A	G	6: 142,547,500 (GRCm39)		probably null	Het
Ahnak	T	A	19: 8,989,420 (GRCm39)	V3568E	probably damaging	Het
Alpi	T	C	1: 87,027,487 (GRCm39)	E293G	possibly damaging	Het
Apoa4	A	G	9: 46,153,822 (GRCm39)	D141G	probably benign	Het
Atg9a	T	C	1: 75,161,143 (GRCm39)	Y701C	probably damaging	Het
Baz2b	C	T	2: 59,762,510 (GRCm39)	R922Q	probably damaging	Het
Bmal2	T	G	6: 146,731,216 (GRCm39)	V507G	probably benign	Het
Bpnt1	G	A	1: 185,073,413 (GRCm39)		probably benign	Het
Brms1	T	A	19: 5,096,727 (GRCm39)	C136*	probably null	Het
Ccdc180	T	A	4: 45,890,900 (GRCm39)	V24E	probably benign	Het
Cdh17	A	G	4: 11,785,186 (GRCm39)	Y326C	possibly damaging	Het
Cgn	A	T	3: 94,669,899 (GRCm39)	D1080E	possibly damaging	Het
Clec4f	C	T	6: 83,629,911 (GRCm39)	V216M	probably benign	Het
Cpd	C	G	11: 76,681,664 (GRCm39)	G1160R	probably damaging	Het
Csf2ra	A	G	19: 61,215,035 (GRCm39)	L143P	probably damaging	Het
Ddb2	G	T	2: 91,065,165 (GRCm39)	Q87K	probably benign	Het
Defb41	A	G	1: 18,321,471 (GRCm39)	Y48H	probably damaging	Het
Dido1	T	C	2: 180,303,267 (GRCm39)	N1546D	probably benign	Het
Dll1	A	T	17: 15,589,216 (GRCm39)	H486Q	probably damaging	Het
Dmac1	A	G	4: 75,196,337 (GRCm39)	V51A	possibly damaging	Het
Dnajb11	C	T	16: 22,681,369 (GRCm39)	A49V	probably damaging	Het
Dnajc14	G	A	10: 128,643,448 (GRCm39)	D457N	probably damaging	Het
Eif3a	C	A	19: 60,755,264 (GRCm39)	D973Y	unknown	Het
Entpd3	T	A	9: 120,386,608 (GRCm39)	N196K	probably damaging	Het
Fam53a	C	A	5: 33,765,076 (GRCm39)	G210V	probably damaging	Het
Farsb	T	A	1: 78,439,011 (GRCm39)	K395*	probably null	Het
Fem1b	A	G	9: 62,704,082 (GRCm39)	S393P	probably damaging	Het
Fsip2	T	A	2: 82,806,952 (GRCm39)	D1090E	probably damaging	Het
Fsip2	A	C	2: 82,817,299 (GRCm39)	N4344T	possibly damaging	Het
Gata3	G	A	2: 9,863,258 (GRCm39)	P419S	probably damaging	Het
Gm7247	T	A	14: 51,807,057 (GRCm39)		probably benign	Het
Gphn	A	G	12: 78,684,277 (GRCm39)	S558G	probably damaging	Het
Gpr142	C	A	11: 114,689,755 (GRCm39)	H2Q	probably benign	Het
Grhpr	T	C	4: 44,988,915 (GRCm39)		probably benign	Het
Grik3	C	A	4: 125,517,368 (GRCm39)	N70K	probably damaging	Het
Gsap	T	A	5: 21,455,933 (GRCm39)		probably benign	Het
Iars1	T	A	13: 49,846,611 (GRCm39)	C237S	probably damaging	Het
Itprid1	T	C	6: 55,849,457 (GRCm39)		probably benign	Het
Kcnj16	G	T	11: 110,915,549 (GRCm39)	W70C	probably damaging	Het
Kpna6	T	C	4: 129,551,251 (GRCm39)	M85V	probably benign	Het
Kri1	G	A	9: 21,186,661 (GRCm39)	S447L	probably damaging	Het
L2hgdh	G	A	12: 69,768,105 (GRCm39)	P131L	possibly damaging	Het
Lrp1b	A	G	2: 40,632,829 (GRCm39)	V3528A	probably benign	Het
Lrrc46	A	T	11: 96,929,605 (GRCm39)	L77Q	probably damaging	Het
Mdc1	A	G	17: 36,159,925 (GRCm39)	T678A	probably benign	Het
Mrpl44	T	C	1: 79,757,212 (GRCm39)	L219S	probably damaging	Het
Myo7a	T	C	7: 97,714,905 (GRCm39)	D112G	probably damaging	Het
Ncoa3	A	G	2: 165,897,098 (GRCm39)	T630A	possibly damaging	Het
Nsl1	T	C	1: 190,814,381 (GRCm39)	L194P	probably damaging	Het
Or4k39	G	A	2: 111,239,140 (GRCm39)	G127S	probably benign	Het
Or5ac23	T	C	16: 59,149,428 (GRCm39)	Y148C	possibly damaging	Het
Or8u10	T	C	2: 85,915,705 (GRCm39)	K139E	probably benign	Het
Pde4d	A	G	13: 109,876,955 (GRCm39)	S159G	probably benign	Het
Pi4ka	T	C	16: 17,142,978 (GRCm39)	R845G	probably null	Het
Pld1	A	G	3: 28,150,033 (GRCm39)		probably benign	Het
Pramel25	T	A	4: 143,521,572 (GRCm39)	L396H	probably damaging	Het
Psd	T	A	19: 46,311,781 (GRCm39)	I300F	probably damaging	Het
Ptprz1	T	A	6: 22,986,195 (GRCm39)	W332R	probably damaging	Het
Rab3d	A	T	9: 21,827,222 (GRCm39)	S3T	possibly damaging	Het
Rnf212	T	A	5: 108,893,530 (GRCm39)	M70L	possibly damaging	Het
Scd3	A	G	19: 44,204,076 (GRCm39)	Y88C	probably damaging	Het
Sema4f	A	G	6: 82,896,674 (GRCm39)		probably benign	Het
Sez6	C	A	11: 77,844,699 (GRCm39)	T7K	possibly damaging	Het
Skint2	T	C	4: 112,502,660 (GRCm39)	I290T	probably benign	Het
Slc17a3	C	T	13: 24,039,841 (GRCm39)	S293F	probably damaging	Het
Slc35e1	T	C	8: 73,246,415 (GRCm39)		probably benign	Het
Slc4a4	A	C	5: 89,304,195 (GRCm39)	H502P	possibly damaging	Het
Slc5a3	T	A	16: 91,874,522 (GRCm39)	I193N	probably damaging	Het
Slc5a4a	A	G	10: 76,014,031 (GRCm39)	I413V	probably null	Het
Snip1	T	A	4: 124,966,633 (GRCm39)	Y354*	probably null	Het
Spata31d1c	A	G	13: 65,180,876 (GRCm39)		probably benign	Het
Speer2	G	A	16: 69,655,640 (GRCm39)	T62M	probably damaging	Het
Tmco5	A	G	2: 116,717,768 (GRCm39)	Y200C	probably damaging	Het
Tmem87b	T	A	2: 128,673,361 (GRCm39)		probably benign	Het
Trim43c	A	T	9: 88,729,568 (GRCm39)	K336N	probably damaging	Het
Trim60	T	C	8: 65,453,973 (GRCm39)	E92G	probably benign	Het
Ttc21a	C	A	9: 119,773,006 (GRCm39)	Q228K	probably damaging	Het
Ttn	A	T	2: 76,626,804 (GRCm39)	D13067E	possibly damaging	Het
Ufl1	A	T	4: 25,269,087 (GRCm39)	I168N	probably damaging	Het
Vmn1r167	T	G	7: 23,204,334 (GRCm39)	R227S	possibly damaging	Het
Vmn2r25	T	A	6: 123,829,984 (GRCm39)	I56L	probably benign	Het
Zfp385c	G	A	11: 100,520,782 (GRCm39)	P293S	probably benign	Het
Zfp473	T	A	7: 44,383,899 (GRCm39)	S144C	probably damaging	Het

Other mutations in Kank2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00788:Kank2	APN	9	21,691,775 (GRCm39)	splice site	probably benign
IGL01574:Kank2	APN	9	21,705,900 (GRCm39)	missense	probably damaging	1.00
IGL01624:Kank2	APN	9	21,691,676 (GRCm39)	missense	probably damaging	1.00
IGL02752:Kank2	APN	9	21,706,329 (GRCm39)	missense	probably damaging	1.00
IGL03116:Kank2	APN	9	21,684,060 (GRCm39)	missense	probably damaging	0.96
IGL03133:Kank2	APN	9	21,706,937 (GRCm39)	missense	probably null	0.82
IGL03384:Kank2	APN	9	21,685,874 (GRCm39)	missense	possibly damaging	0.82
PIT4515001:Kank2	UTSW	9	21,706,179 (GRCm39)	missense	probably benign
R0480:Kank2	UTSW	9	21,691,195 (GRCm39)	missense	probably damaging	1.00
R1270:Kank2	UTSW	9	21,684,056 (GRCm39)	missense	probably damaging	1.00
R1538:Kank2	UTSW	9	21,685,927 (GRCm39)	missense	probably damaging	0.99
R1574:Kank2	UTSW	9	21,685,871 (GRCm39)	missense	probably damaging	1.00
R1574:Kank2	UTSW	9	21,685,871 (GRCm39)	missense	probably damaging	1.00
R1602:Kank2	UTSW	9	21,681,133 (GRCm39)	missense	probably damaging	1.00
R1827:Kank2	UTSW	9	21,706,761 (GRCm39)	missense	probably damaging	1.00
R1941:Kank2	UTSW	9	21,684,162 (GRCm39)	missense	possibly damaging	0.69
R1976:Kank2	UTSW	9	21,705,857 (GRCm39)	missense	probably damaging	0.97
R2276:Kank2	UTSW	9	21,681,080 (GRCm39)	missense	probably damaging	1.00
R2278:Kank2	UTSW	9	21,681,080 (GRCm39)	missense	probably damaging	1.00
R2303:Kank2	UTSW	9	21,681,061 (GRCm39)	missense	probably benign	0.12
R4085:Kank2	UTSW	9	21,706,415 (GRCm39)	missense	probably damaging	1.00
R4163:Kank2	UTSW	9	21,706,864 (GRCm39)	missense	probably damaging	1.00
R4204:Kank2	UTSW	9	21,706,923 (GRCm39)	missense	probably damaging	1.00
R4461:Kank2	UTSW	9	21,706,041 (GRCm39)	nonsense	probably null
R4738:Kank2	UTSW	9	21,685,915 (GRCm39)	missense	probably damaging	1.00
R4811:Kank2	UTSW	9	21,687,043 (GRCm39)	missense	probably damaging	1.00
R4859:Kank2	UTSW	9	21,691,078 (GRCm39)	missense	probably benign	0.13
R5838:Kank2	UTSW	9	21,706,689 (GRCm39)	missense	probably damaging	0.99
R6449:Kank2	UTSW	9	21,691,858 (GRCm39)	missense	possibly damaging	0.68
R7131:Kank2	UTSW	9	21,705,975 (GRCm39)	missense	probably benign	0.02
R8724:Kank2	UTSW	9	21,705,917 (GRCm39)	missense	possibly damaging	0.68
R9040:Kank2	UTSW	9	21,706,115 (GRCm39)	missense	probably damaging	1.00
R9139:Kank2	UTSW	9	21,681,370 (GRCm39)	missense	probably damaging	1.00
R9508:Kank2	UTSW	9	21,687,076 (GRCm39)	missense	probably damaging	1.00
R9563:Kank2	UTSW	9	21,705,852 (GRCm39)	missense	possibly damaging	0.94
R9564:Kank2	UTSW	9	21,706,631 (GRCm39)	missense	probably damaging	1.00
R9564:Kank2	UTSW	9	21,705,852 (GRCm39)	missense	possibly damaging	0.94
Z1177:Kank2	UTSW	9	21,706,545 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GAAGCTGTAATCCCTGTCCACCAAC -3'
(R):5'- AGGAGCTGTAAGATGGAGTCCCTG -3'

Sequencing Primer
(F):5'- CCGCCATCAGACTGTGAAG -3'
(R):5'- AAGATGGAGTCCCTGTTCTGTTC -3'

Posted On

2013-05-23