Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL03133:Kank2'

410399

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Kank2

Ensembl Gene

ENSMUSG00000032194

Gene Name

KN motif and ankyrin repeat domains 2

Synonyms

Ankrd25

Accession Numbers

Is this an essential gene?

Possibly non essential (E-score: 0.268) question?

Stock #

IGL03133

Quality Score

Status

Chromosome

Chromosomal Location

21766784-21798744 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 21795641 bp

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 27 (E27G)

Ref Sequence

ENSEMBL: ENSMUSP00000150735 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000034717] [ENSMUST00000034728] [ENSMUST00000213691] [ENSMUST00000216008] [ENSMUST00000217336]

Predicted Effect

possibly damaging
Transcript: ENSMUST00000034717
AA Change: E27G

PolyPhen 2 Score 0.714 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000034717
Gene: ENSMUSG00000032194
AA Change: E27G

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: ENSMUST00000034728

SMART Domains

Protein: ENSMUSP00000034728
Gene: ENSMUSG00000032198

Domain	Start	End	E-Value	Type
low complexity region	26	42	N/A	INTRINSIC
Pfam:DUF3398	63	155	4.7e-26	PFAM
low complexity region	419	429	N/A	INTRINSIC
low complexity region	478	489	N/A	INTRINSIC
Pfam:DOCK-C2	542	721	3.4e-46	PFAM
low complexity region	754	770	N/A	INTRINSIC
low complexity region	776	787	N/A	INTRINSIC
low complexity region	945	965	N/A	INTRINSIC
low complexity region	1057	1072	N/A	INTRINSIC
low complexity region	1123	1153	N/A	INTRINSIC
low complexity region	1173	1190	N/A	INTRINSIC
low complexity region	1340	1356	N/A	INTRINSIC
Pfam:DHR-2	1554	2080	6.6e-214	PFAM
low complexity region	2093	2107	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000213691
AA Change: E27G

PolyPhen 2 Score 0.816 (Sensitivity: 0.84; Specificity: 0.93)

Predicted Effect

probably benign
Transcript: ENSMUST00000215729

Predicted Effect

possibly damaging
Transcript: ENSMUST00000216008
AA Change: E27G

PolyPhen 2 Score 0.714 (Sensitivity: 0.86; Specificity: 0.92)

Predicted Effect

probably benign
Transcript: ENSMUST00000217336

Coding Region Coverage

Validation Efficiency

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: 27 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adarb1	T	C	10: 77,325,896		probably benign	Het
Ano5	C	T	7: 51,576,512	R505*	probably null	Het
Asphd1	A	G	7: 126,948,280	C284R	possibly damaging	Het
Cep192	T	A	18: 67,810,105	W158R	probably benign	Het
Ces2h	T	A	8: 105,016,779	D188E	probably damaging	Het
Dab1	G	A	4: 104,727,580	V306I	probably benign	Het
Dcc	A	G	18: 71,262,955		probably benign	Het
Dennd6b	T	A	15: 89,188,523		probably null	Het
Dmwd	T	A	7: 19,076,637	V123D	probably damaging	Het
Eno1	A	G	4: 150,245,344		probably benign	Het
Fat2	G	A	11: 55,286,043	T1542I	probably benign	Het
Fcrl1	T	C	3: 87,389,392	S274P	probably benign	Het
Gmpr	T	C	13: 45,517,018	V72A	probably benign	Het
Mtor	G	T	4: 148,484,319	A1099S	probably benign	Het
Ofcc1	T	C	13: 40,072,768	I763V	probably benign	Het
Olfr1023	G	T	2: 85,887,134	E111D	probably damaging	Het
Olfr1065	A	G	2: 86,445,658	I108T	probably damaging	Het
Olfr487	G	T	7: 108,212,387	S47R	possibly damaging	Het
Olfr870	T	A	9: 20,170,713	N286I	probably damaging	Het
Piwil1	C	A	5: 128,742,029	H201N	probably benign	Het
Slc26a7	C	T	4: 14,532,576	V433M	possibly damaging	Het
Spata31d1c	T	C	13: 65,034,985	Y114H	probably benign	Het
Stx7	A	T	10: 24,185,038	N221I	probably damaging	Het
Tbc1d31	A	T	15: 57,942,459		probably benign	Het
Ubxn7	T	G	16: 32,381,781	L393R	probably damaging	Het
Vit	A	T	17: 78,566,071	M59L	probably benign	Het
Vmn1r5	T	A	6: 56,985,615	C92S	probably benign	Het

Other mutations in Kank2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00788:Kank2	APN	9	21780479	splice site	probably benign
IGL01574:Kank2	APN	9	21794604	missense	probably damaging	1.00
IGL01624:Kank2	APN	9	21780380	missense	probably damaging	1.00
IGL02752:Kank2	APN	9	21795033	missense	probably damaging	1.00
IGL03116:Kank2	APN	9	21772764	missense	probably damaging	0.96
IGL03384:Kank2	APN	9	21774578	missense	possibly damaging	0.82
PIT4515001:Kank2	UTSW	9	21794883	missense	probably benign
R0054:Kank2	UTSW	9	21774674	nonsense	probably null
R0480:Kank2	UTSW	9	21779899	missense	probably damaging	1.00
R1270:Kank2	UTSW	9	21772760	missense	probably damaging	1.00
R1538:Kank2	UTSW	9	21774631	missense	probably damaging	0.99
R1574:Kank2	UTSW	9	21774575	missense	probably damaging	1.00
R1574:Kank2	UTSW	9	21774575	missense	probably damaging	1.00
R1602:Kank2	UTSW	9	21769837	missense	probably damaging	1.00
R1827:Kank2	UTSW	9	21795465	missense	probably damaging	1.00
R1941:Kank2	UTSW	9	21772866	missense	possibly damaging	0.69
R1976:Kank2	UTSW	9	21794561	missense	probably damaging	0.97
R2276:Kank2	UTSW	9	21769784	missense	probably damaging	1.00
R2278:Kank2	UTSW	9	21769784	missense	probably damaging	1.00
R2303:Kank2	UTSW	9	21769765	missense	probably benign	0.12
R4085:Kank2	UTSW	9	21795119	missense	probably damaging	1.00
R4163:Kank2	UTSW	9	21795568	missense	probably damaging	1.00
R4204:Kank2	UTSW	9	21795627	missense	probably damaging	1.00
R4461:Kank2	UTSW	9	21794745	nonsense	probably null
R4738:Kank2	UTSW	9	21774619	missense	probably damaging	1.00
R4811:Kank2	UTSW	9	21775747	missense	probably damaging	1.00
R4859:Kank2	UTSW	9	21779782	missense	probably benign	0.13
R5838:Kank2	UTSW	9	21795393	missense	probably damaging	0.99
R6449:Kank2	UTSW	9	21780562	missense	possibly damaging	0.68
R7131:Kank2	UTSW	9	21794679	missense	probably benign	0.02
Z1177:Kank2	UTSW	9	21795249	missense	probably damaging	1.00

Posted On

2016-08-02