Mutagenetix > Incidental Mutations

Incidental Mutation 'R3802:Kank4'

274346

Institutional Source

Beutler Lab

Gene Symbol

Kank4

Ensembl Gene

ENSMUSG00000035407

Gene Name

KN motif and ankyrin repeat domains 4

Synonyms

Ankrd38

MMRRC Submission

040761-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.075) question?

Stock #

R3802 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

98754898-98817537 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 98780133 bp

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 26 (S26P)

Ref Sequence

ENSEMBL: ENSMUSP00000099851 (fasta)

Gene Model

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000102790
AA Change: S26P

PolyPhen 2 Score 0.966 (Sensitivity: 0.77; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000099851
Gene: ENSMUSG00000035407
AA Change: S26P

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

Meta Mutation Damage Score

0.0893

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.6%
20x: 96.1%

Validation Efficiency

100% (47/47)

Allele List at MGI

Other mutations in this stock

Total: 47 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930452B06Rik	G	T	14: 8,510,931	D494E	probably benign	Het
9230104L09Rik	T	C	2: 148,850,696	H62R	probably benign	Het
Abcc2	C	A	19: 43,821,626	N874K	probably benign	Het
Axl	A	T	7: 25,788,477	M1K	probably null	Het
Btaf1	A	T	19: 36,986,548	T840S	probably benign	Het
Btaf1	A	T	19: 36,988,973	H1047L	probably benign	Het
Capn13	G	A	17: 73,339,401	P339L	probably benign	Het
Ccdc105	A	C	10: 78,748,480	F367C	probably damaging	Het
Ccdc39	A	T	3: 33,819,895	M596K	probably damaging	Het
Cfap58	G	T	19: 47,953,059	D289Y	possibly damaging	Het
Cnn2	A	G	10: 79,993,495	D153G	probably benign	Het
Cubn	T	C	2: 13,360,353	I1625V	probably benign	Het
Gm13178	A	T	4: 144,703,504	L305Q	possibly damaging	Het
Gprc5b	C	T	7: 118,983,720	D309N	possibly damaging	Het
Grm8	T	G	6: 28,125,636	N164H	possibly damaging	Het
Gstm3	G	A	3: 107,964,235	T210I	probably benign	Het
H2-Ke6	A	T	17: 34,026,467	V231E	probably damaging	Het
Hhipl1	A	G	12: 108,312,307	E298G	probably benign	Het
Hivep2	A	G	10: 14,148,961	D2173G	possibly damaging	Het
Jarid2	T	A	13: 44,902,831	N365K	probably benign	Het
Kpnb1	A	T	11: 97,166,129	V638E	possibly damaging	Het
Lipo1	C	T	19: 33,784,857	C80Y	probably damaging	Het
Mga	T	A	2: 119,947,339	N1788K	probably damaging	Het
Mslnl	G	A	17: 25,742,934	V128M	probably damaging	Het
Mtmr10	A	G	7: 64,320,628	Y373C	probably benign	Het
Ncoa6	C	T	2: 155,405,564	G1940D	probably benign	Het
Nelfe	T	A	17: 34,853,901	F166L	possibly damaging	Het
Nfatc3	A	G	8: 106,079,645	Y374C	probably damaging	Het
Nhlrc3	A	G	3: 53,458,631	V147A	possibly damaging	Het
Olfr583	A	G	7: 103,052,165	Y289C	probably benign	Het
Olfr952	G	A	9: 39,426,286	P262S	probably damaging	Het
Pak3	G	A	X: 143,709,731	V87I	probably damaging	Het
Papolg	A	T	11: 23,876,449	I235N	probably damaging	Het
Pdgfrl	T	C	8: 40,985,557	S177P	probably damaging	Het
Phf8	T	C	X: 151,572,576	S512P	possibly damaging	Het
Plaa	T	C	4: 94,569,888	D615G	probably damaging	Het
Prpf4b	T	C	13: 34,883,682		probably benign	Het
Sgk1	T	C	10: 21,997,412	V259A	probably damaging	Het
Skint4	G	T	4: 112,118,181	V113L	probably damaging	Het
Smco1	A	G	16: 32,273,898	Y129C	probably benign	Het
Tas2r106	C	A	6: 131,678,366	S174I	probably benign	Het
Tsn	A	T	1: 118,305,296	F93I	probably damaging	Het
Vav2	T	C	2: 27,267,223		probably benign	Het
Vmn2r63	A	T	7: 42,903,405	M809K	probably damaging	Het
Zfp260	G	A	7: 30,105,079	E135K	probably benign	Het
Zfp808	T	A	13: 62,172,083	H375Q	probably damaging	Het
Zkscan2	A	T	7: 123,495,142		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
IGL02634:Kank4	APN	4	98778827	missense	probably benign	0.06
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
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
X0027:Kank4	UTSW	4	98779923	missense	probably benign	0.00
Z1176:Kank4	UTSW	4	98778294	frame shift	probably null

Predicted Primers

PCR Primer
(F):5'- CAGTTTTGCTGGGGAGGAAC -3'
(R):5'- AGACGTTGGCCAAATACACATTG -3'

Sequencing Primer
(F):5'- CTGGGGAGGAACAGCATAGGTG -3'
(R):5'- AAGTCCATAGGCTCAGCGG -3'

Posted On

2015-04-02