Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL02634:Kank4'

301421

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Kank4

Ensembl Gene

ENSMUSG00000035407

Gene Name

KN motif and ankyrin repeat domains 4

Synonyms

Ankrd38

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.070) question?

Stock #

IGL02634

Quality Score

Status

Chromosome

Chromosomal Location

98754898-98817537 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 98778827 bp

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Leucine at position 461 (Q461L)

Ref Sequence

ENSEMBL: ENSMUSP00000099851 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000102790]

Predicted Effect

probably benign
Transcript: ENSMUST00000102790
AA Change: Q461L

PolyPhen 2 Score 0.057 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000099851
Gene: ENSMUSG00000035407
AA Change: Q461L

Domain	Start	End	E-Value	Type
Pfam:KN_motif	24	62	5.6e-26	PFAM
low complexity region	280	295	N/A	INTRINSIC
low complexity region	300	320	N/A	INTRINSIC
coiled coil region	345	409	N/A	INTRINSIC
low complexity region	505	521	N/A	INTRINSIC
low complexity region	600	624	N/A	INTRINSIC
low complexity region	625	655	N/A	INTRINSIC
low complexity region	685	709	N/A	INTRINSIC
ANK	838	868	7.42e-4	SMART
ANK	877	905	2.08e3	SMART
ANK	910	939	1.11e-2	SMART
ANK	943	973	8.99e-3	SMART
ANK	977	1006	2.43e3	SMART

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 45 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1810046K07Rik	A	G	9: 51,291,755	L33P	possibly damaging	Het
Adamts2	T	A	11: 50,792,721	C943*	probably null	Het
Arhgef28	A	T	13: 98,051,058	V243D	probably benign	Het
Arrdc3	T	A	13: 80,890,765	I62K	probably damaging	Het
Atm	T	C	9: 53,516,563	T416A	probably benign	Het
AW209491	A	G	13: 14,637,683	T374A	probably damaging	Het
Brcc3	T	C	X: 75,436,098		probably benign	Het
Ccdc181	T	G	1: 164,279,945	S66A	probably benign	Het
Ccdc62	T	C	5: 123,954,257	I435T	probably benign	Het
Cdc14b	C	A	13: 64,216,303		probably benign	Het
Chst5	A	G	8: 111,890,845	S48P	probably damaging	Het
Ciita	C	A	16: 10,508,713	S253Y	probably damaging	Het
Dock7	C	T	4: 98,989,296	R1005H	probably damaging	Het
Dsg4	A	T	18: 20,458,580	I459F	probably benign	Het
Enpep	T	C	3: 129,309,857	E361G	probably damaging	Het
Fblim1	T	C	4: 141,583,111	D280G	probably benign	Het
Fignl1	G	A	11: 11,802,756	R100*	probably null	Het
Ggcx	G	T	6: 72,418,303	A126S	probably damaging	Het
Hdgfl1	A	G	13: 26,769,803	S96P	probably benign	Het
Iqgap2	G	A	13: 95,628,114	L1541F	probably damaging	Het
Itga8	T	C	2: 12,140,478	E888G	possibly damaging	Het
Klhl20	C	T	1: 161,098,365	V438M	probably damaging	Het
Klrc3	A	T	6: 129,643,208	S27R	probably damaging	Het
Ksr2	T	C	5: 117,763,329		probably benign	Het
Lrrc37a	C	T	11: 103,499,112	S1829N	probably benign	Het
Obscn	A	G	11: 59,054,785	L4585P	probably damaging	Het
Olfr480	T	C	7: 108,066,771	N9S	probably benign	Het
Palm3	T	G	8: 84,028,865	S335R	probably damaging	Het
Pcsk7	C	T	9: 45,919,262	A446V	possibly damaging	Het
Penk	A	G	4: 4,134,065	L194P	possibly damaging	Het
Pkhd1l1	T	C	15: 44,539,667	F2255S	probably damaging	Het
Plcd3	G	A	11: 103,077,827	S31F	probably damaging	Het
Ppp6r2	C	T	15: 89,275,477	Q456*	probably null	Het
Rbbp8nl	T	C	2: 180,280,895	D235G	probably benign	Het
Ror1	T	A	4: 100,426,110	N457K	probably benign	Het
Rpgrip1l	C	A	8: 91,225,344		probably benign	Het
Sdk1	T	C	5: 141,610,032	F148L	probably benign	Het
Slc45a2	A	T	15: 11,023,354	H348L	probably benign	Het
Smg8	C	T	11: 87,086,672	A28T	probably benign	Het
Snx14	A	G	9: 88,403,303	I436T	probably damaging	Het
Synj2	G	A	17: 6,029,760	R1088H	probably damaging	Het
Tubb6	T	C	18: 67,402,296	Y422H	probably damaging	Het
Unc13a	T	A	8: 71,655,701	I503F	probably benign	Het
Unc13d	A	G	11: 116,070,556		probably benign	Het
Zp1	T	C	19: 10,919,507		probably benign	Het

Other mutations in Kank4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01069:Kank4	APN	4	98778395	missense	probably damaging	0.99
IGL02883:Kank4	APN	4	98773453	missense	possibly damaging	0.87
R0040:Kank4	UTSW	4	98779220	missense	probably benign	0.03
R0040:Kank4	UTSW	4	98779220	missense	probably benign	0.03
R0081:Kank4	UTSW	4	98778330	missense	probably benign	0.02
R0219:Kank4	UTSW	4	98778465	missense	probably benign	0.06
R0498:Kank4	UTSW	4	98779636	missense	probably benign
R0609:Kank4	UTSW	4	98777105	missense	probably damaging	0.99
R0855:Kank4	UTSW	4	98771444	missense	probably damaging	1.00
R0865:Kank4	UTSW	4	98774663	splice site	probably benign
R0961:Kank4	UTSW	4	98756519	missense	probably benign	0.02
R1172:Kank4	UTSW	4	98765569	missense	probably damaging	1.00
R1173:Kank4	UTSW	4	98765569	missense	probably damaging	1.00
R1175:Kank4	UTSW	4	98765569	missense	probably damaging	1.00
R1381:Kank4	UTSW	4	98779938	missense	probably damaging	0.98
R1517:Kank4	UTSW	4	98779029	missense	possibly damaging	0.83
R1573:Kank4	UTSW	4	98774836	nonsense	probably null
R1668:Kank4	UTSW	4	98778896	missense	probably damaging	0.98
R2051:Kank4	UTSW	4	98780102	missense	probably damaging	0.99
R2253:Kank4	UTSW	4	98779226	missense	probably damaging	0.99
R2656:Kank4	UTSW	4	98778957	missense	probably damaging	0.99
R3801:Kank4	UTSW	4	98780133	missense	probably damaging	0.97
R3802:Kank4	UTSW	4	98780133	missense	probably damaging	0.97
R3804:Kank4	UTSW	4	98780133	missense	probably damaging	0.97
R3945:Kank4	UTSW	4	98771280	missense	probably damaging	1.00
R4172:Kank4	UTSW	4	98779121	missense	probably damaging	1.00
R4502:Kank4	UTSW	4	98777098	missense	possibly damaging	0.89
R4503:Kank4	UTSW	4	98777098	missense	possibly damaging	0.89
R5024:Kank4	UTSW	4	98785661	missense	probably damaging	0.99
R5105:Kank4	UTSW	4	98779159	missense	probably benign	0.01
R5122:Kank4	UTSW	4	98756567	missense	probably damaging	1.00
R5255:Kank4	UTSW	4	98778972	missense	probably benign
R5484:Kank4	UTSW	4	98774785	missense	probably benign
R5517:Kank4	UTSW	4	98774881	missense	probably damaging	1.00
R5550:Kank4	UTSW	4	98771441	missense	probably benign	0.27
R5667:Kank4	UTSW	4	98765461	critical splice donor site	probably null
R5671:Kank4	UTSW	4	98765461	critical splice donor site	probably null
R5865:Kank4	UTSW	4	98771393	missense	possibly damaging	0.50
R6176:Kank4	UTSW	4	98765554	missense	probably damaging	1.00
R6778:Kank4	UTSW	4	98761505	missense	probably benign	0.01
R7084:Kank4	UTSW	4	98771345	missense	probably damaging	1.00
R7085:Kank4	UTSW	4	98779946	missense	probably benign
R7112:Kank4	UTSW	4	98761521	missense	probably damaging	0.99
R8307:Kank4	UTSW	4	98778678	nonsense	probably null
R8431:Kank4	UTSW	4	98779272	missense	probably benign	0.33
R8447:Kank4	UTSW	4	98778492	missense	probably damaging	0.99
R8483:Kank4	UTSW	4	98771378	missense	probably damaging	1.00
R8505:Kank4	UTSW	4	98785676	start gained	probably benign
X0027:Kank4	UTSW	4	98779923	missense	probably benign	0.00
Z1176:Kank4	UTSW	4	98778294	frame shift	probably null

Posted On

2015-04-16