Mutagenetix > Incidental Mutation

Incidental Mutation 'R1976:Kank2'

221723

Institutional Source

Beutler Lab

Gene Symbol

Kank2

Ensembl Gene

ENSMUSG00000032194

Gene Name

KN motif and ankyrin repeat domains 2

Synonyms

Ankrd25

MMRRC Submission

039989-MU

Accession Numbers

Essential gene?

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

Stock #

R1976 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

21678069-21709842 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 21705857 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Glutamic Acid at position 387 (V387E)

Ref Sequence

ENSEMBL: ENSMUSP00000151181 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000034717] [ENSMUST00000213691] [ENSMUST00000216008]

AlphaFold

Q8BX02

Predicted Effect

probably damaging
Transcript: ENSMUST00000034717
AA Change: V387E

PolyPhen 2 Score 0.969 (Sensitivity: 0.77; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000034717
Gene: ENSMUSG00000032194
AA Change: V387E

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

probably benign
Transcript: ENSMUST00000213691

Predicted Effect

probably damaging
Transcript: ENSMUST00000216008
AA Change: V387E

PolyPhen 2 Score 0.969 (Sensitivity: 0.77; Specificity: 0.95)

Meta Mutation Damage Score

0.1847

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 97.0%
20x: 94.8%

Validation Efficiency

98% (65/66)

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: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca13	T	C	11: 9,347,815 (GRCm39)	V3556A	probably damaging	Het
Abcb5	T	C	12: 118,854,417 (GRCm39)	I833V	probably benign	Het
Adgrd1	A	T	5: 129,217,861 (GRCm39)	H432L	probably benign	Het
Alppl2	T	A	1: 87,016,463 (GRCm39)	I204F	probably damaging	Het
Ascc3	T	A	10: 50,525,262 (GRCm39)	F486I	probably damaging	Het
Bcl9l	T	A	9: 44,417,449 (GRCm39)	L429Q	possibly damaging	Het
Ccdc33	A	T	9: 58,024,445 (GRCm39)	Y227*	probably null	Het
Cd101	A	G	3: 100,915,377 (GRCm39)	V730A	probably damaging	Het
Cdadc1	A	T	14: 59,811,217 (GRCm39)	V431E	probably damaging	Het
Dazap1	T	A	10: 80,110,454 (GRCm39)		probably null	Het
Dbpht2	T	A	12: 74,342,635 (GRCm39)		noncoding transcript	Het
Dennd4b	A	T	3: 90,180,362 (GRCm39)	T742S	probably damaging	Het
Dhtkd1	T	C	2: 5,907,202 (GRCm39)	E838G	possibly damaging	Het
Dync2h1	A	T	9: 7,129,045 (GRCm39)	D1823E	probably benign	Het
Enox1	T	A	14: 77,906,233 (GRCm39)	N556K	probably benign	Het
Fam227a	T	C	15: 79,510,477 (GRCm39)	I392M	possibly damaging	Het
Fnip2	A	T	3: 79,388,238 (GRCm39)	M831K	probably benign	Het
Foxn1	T	C	11: 78,256,763 (GRCm39)		probably benign	Het
Garre1	A	C	7: 33,956,805 (GRCm39)	N353K	probably damaging	Het
Glis3	T	C	19: 28,240,077 (GRCm39)	936	probably benign	Het
Gm4953	T	A	1: 158,995,923 (GRCm39)		noncoding transcript	Het
Gsr	T	G	8: 34,170,288 (GRCm39)		probably null	Het
Habp4	G	T	13: 64,332,420 (GRCm39)	V344F	probably benign	Het
Hdac7	G	A	15: 97,704,386 (GRCm39)	Q495*	probably null	Het
Helb	T	C	10: 119,930,168 (GRCm39)	D737G	possibly damaging	Het
Hltf	A	G	3: 20,160,610 (GRCm39)	D759G	probably damaging	Het
Hlx	G	T	1: 184,464,184 (GRCm39)	A52D	probably damaging	Het
Itga10	C	T	3: 96,559,054 (GRCm39)		probably benign	Het
Itsn2	A	G	12: 4,722,733 (GRCm39)		probably benign	Het
Lefty1	T	C	1: 180,765,389 (GRCm39)	V319A	probably benign	Het
Lonp1	T	C	17: 56,922,068 (GRCm39)	T771A	possibly damaging	Het
Lpcat2b	A	T	5: 107,581,716 (GRCm39)	K348N	possibly damaging	Het
Lsamp	T	C	16: 41,709,430 (GRCm39)	V103A	probably damaging	Het
Ltbp4	A	T	7: 27,026,195 (GRCm39)	C538S	probably damaging	Het
Micu1	T	C	10: 59,604,035 (GRCm39)	S174P	probably damaging	Het
Mta1	A	G	12: 113,099,926 (GRCm39)	N607S	probably damaging	Het
Muc5b	C	T	7: 141,416,891 (GRCm39)	S3279L	probably benign	Het
Naalad2	T	C	9: 18,289,995 (GRCm39)	E211G	probably damaging	Het
Nup155	T	A	15: 8,165,311 (GRCm39)	M649K	probably benign	Het
Pan2	T	C	10: 128,156,282 (GRCm39)	V1171A	probably damaging	Het
Pisd	A	G	5: 32,896,209 (GRCm39)	V372A	probably damaging	Het
Prim1	T	A	10: 127,859,668 (GRCm39)	C288S	probably benign	Het
Rab23	T	A	1: 33,763,019 (GRCm39)	C30S	probably damaging	Het
Sacs	A	G	14: 61,440,344 (GRCm39)	T797A	probably benign	Het
Sall3	T	C	18: 81,015,108 (GRCm39)	D940G	probably benign	Het
Scn1a	T	C	2: 66,161,615 (GRCm39)	E311G	probably benign	Het
Sdk1	T	A	5: 142,129,573 (GRCm39)	I1598N	probably damaging	Het
Slc22a17	A	T	14: 55,145,957 (GRCm39)		probably null	Het
Slc36a4	T	A	9: 15,645,506 (GRCm39)	V311D	probably damaging	Het
Sprr3	T	A	3: 92,364,253 (GRCm39)	Q197L	possibly damaging	Het
Stab2	A	C	10: 86,732,360 (GRCm39)		probably null	Het
Stk4	C	T	2: 163,942,448 (GRCm39)	T360M	probably benign	Het
Tas2r123	T	A	6: 132,824,295 (GRCm39)	V64D	probably damaging	Het
Trhde	T	G	10: 114,424,336 (GRCm39)	N483T	possibly damaging	Het
Trp53	C	T	11: 69,479,323 (GRCm39)	T167M	probably damaging	Het
Tspan8	A	G	10: 115,680,035 (GRCm39)	I217V	probably benign	Het
Tut4	T	C	4: 108,336,720 (GRCm39)	L148P	probably benign	Het
Usp17la	A	G	7: 104,509,527 (GRCm39)	E44G	possibly damaging	Het
Usp40	T	G	1: 87,906,258 (GRCm39)	Q659P	probably benign	Het
Vmn1r4	T	C	6: 56,933,723 (GRCm39)	C76R	probably damaging	Het
Vmn2r118	C	T	17: 55,899,925 (GRCm39)	G660R	probably damaging	Het
Zfp786	T	A	6: 47,796,691 (GRCm39)	H749L	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
R0054:Kank2	UTSW	9	21,685,970 (GRCm39)	nonsense	probably null
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
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'- CTTCTCACTTTGATAGGCTGGG -3'
(R):5'- TAAAGTGGCCGTGTTGGAGAC -3'

Sequencing Primer
(F):5'- GGCCACCTGTTTAGCTCAG -3'
(R):5'- GTGTTGGAGACCCAGCTC -3'

Posted On

2014-08-25