Mutagenetix > Incidental Mutations

Incidental Mutation 'R4502:Kank4'

331844

Institutional Source

Beutler Lab

Gene Symbol

Kank4

Ensembl Gene

ENSMUSG00000035407

Gene Name

KN motif and ankyrin repeat domains 4

Synonyms

Ankrd38

MMRRC Submission

041754-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.083) question?

Stock #

R4502 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

98754898-98817537 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 98777098 bp

Zygosity

Heterozygous

Amino Acid Change

Serine to Leucine at position 653 (S653L)

Ref Sequence

ENSEMBL: ENSMUSP00000099851 (fasta)

Gene Model

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000102790
AA Change: S653L

PolyPhen 2 Score 0.891 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000099851
Gene: ENSMUSG00000035407
AA Change: S653L

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

1x: 99.2%
3x: 98.5%
10x: 97.1%
20x: 94.8%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Agtr1b	A	C	3: 20,315,798	Y215D	probably damaging	Het
Arf5	T	C	6: 28,425,776	V123A	possibly damaging	Het
Arl6ip1	AAAATAAATAAATAAATAAATAAATA	AAAATAAATAAATAAATAAATAAATAAATA	7: 118,121,899		probably benign	Het
Atm	A	G	9: 53,495,946	V1164A	possibly damaging	Het
Atp6v0d1	A	G	8: 105,565,798	C39R	probably damaging	Het
Bmp8a	T	A	4: 123,342,399	S104C	probably damaging	Het
Cand1	T	C	10: 119,216,667	T185A	probably benign	Het
Ccdc171	A	G	4: 83,864,323	E1284G	probably damaging	Het
Chodl	A	G	16: 78,931,444	S26G	possibly damaging	Het
Cic	C	T	7: 25,288,467	P620S	probably damaging	Het
Col3a1	T	C	1: 45,348,677		probably benign	Het
Dirc2	T	C	16: 35,719,417	M345V	probably benign	Het
Dpyd	G	T	3: 118,797,537	G225C	probably damaging	Het
Dst	G	A	1: 34,247,691	V5560M	probably damaging	Het
Eea1	G	A	10: 96,039,565	E1233K	probably benign	Het
Fryl	T	C	5: 73,088,397	D1139G	probably damaging	Het
Gpr39	G	A	1: 125,677,991	V219I	probably benign	Het
Hc	T	C	2: 35,006,252	D1173G	probably benign	Het
Htr2a	T	A	14: 74,641,988	M19K	probably benign	Het
Kcnt2	G	T	1: 140,507,747	C484F	probably damaging	Het
Kdm1b	C	T	13: 47,063,077	R308W	probably damaging	Het
Klhl1	A	G	14: 96,517,846	S158P	probably benign	Het
Ldb2	T	C	5: 44,669,407	D62G	probably damaging	Het
Ldhb	T	C	6: 142,490,457	K329E	possibly damaging	Het
Mtmr7	T	C	8: 40,558,162	E285G	possibly damaging	Het
Olfr1370	A	T	13: 21,072,746	I185N	probably damaging	Het
Olfr178	T	C	16: 58,890,176	I15V	probably benign	Het
Olfr303	T	A	7: 86,395,277	T74S	possibly damaging	Het
Pi4kb	T	A	3: 94,996,607	H501Q	probably benign	Het
Ppargc1b	T	C	18: 61,302,679	K910R	probably benign	Het
Ppp1r12a	G	T	10: 108,249,478	R428I	probably benign	Het
Rbbp8nl	G	T	2: 180,279,196	T465N	possibly damaging	Het
Rpl5	T	C	5: 107,904,857	F223S	possibly damaging	Het
Scpep1	T	C	11: 88,944,385	K154R	probably benign	Het
Sil1	T	C	18: 35,317,875	Y249C	probably benign	Het
Slc12a1	T	A	2: 125,226,044	L1017Q	probably damaging	Het
Slc2a9	T	C	5: 38,398,811	N264S	probably benign	Het
Tdrd5	T	A	1: 156,300,764	M141L	probably benign	Het
Tdrd9	T	C	12: 111,993,825	C182R	probably damaging	Het
Thap4	T	C	1: 93,750,987		probably null	Het
Tmem131	T	C	1: 36,825,479	T558A	probably benign	Het
Tnks1bp1	C	T	2: 85,062,647	R973*	probably null	Het
Ulk3	A	G	9: 57,593,229	Y307C	probably damaging	Het
Usp25	T	C	16: 77,115,396	L1001P	probably damaging	Het
Vmn2r80	A	T	10: 79,148,930	T39S	probably benign	Het
Vps33b	G	A	7: 80,287,907	A468T	possibly damaging	Het
Wnt9a	T	C	11: 59,328,537	S130P	probably damaging	Het
Zfp236	T	C	18: 82,636,954	E730G	probably benign	Het
Zfp689	C	A	7: 127,448,753	V36L	probably benign	Het
Zfp938	A	G	10: 82,226,271	S172P	possibly damaging	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
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
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

Predicted Primers

PCR Primer
(F):5'- ATGGGGATTGAGTCCTGCAG -3'
(R):5'- ATTGAGCATGAGGGCCTCTG -3'

Sequencing Primer
(F):5'- ACAGATGTGTTTCCTAGGGAAG -3'
(R):5'- CATCTGGTCTGCATTACC -3'

Posted On

2015-07-21