Mutagenetix > Incidental Mutations

Incidental Mutation 'R0865:Kank4'

82289

Institutional Source

Beutler Lab

Gene Symbol

Kank4

Ensembl Gene

ENSMUSG00000035407

Gene Name

KN motif and ankyrin repeat domains 4

Synonyms

Ankrd38

MMRRC Submission

039039-MU

Accession Numbers

Is this an essential gene?

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

Stock #

R0865 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

98754898-98817537 bp(-) (GRCm38)

Type of Mutation

splice site

DNA Base Change (assembly)

A to T at 98774663 bp

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000099851 (fasta)

Gene Model

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

Predicted Effect

probably benign
Transcript: ENSMUST00000102790

SMART Domains

Protein: ENSMUSP00000099851
Gene: ENSMUSG00000035407

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000137270

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.6%
3x: 99.0%
10x: 97.5%
20x: 95.2%

Validation Efficiency

98% (53/54)

Allele List at MGI

Other mutations in this stock

Total: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adck5	A	G	15: 76,595,643	E581G	probably damaging	Het
Adcy5	A	G	16: 35,274,471	N666S	probably damaging	Het
Apcs	T	C	1: 172,894,215	D188G	probably benign	Het
Arih2	A	G	9: 108,649,300		probably benign	Het
AU040320	A	G	4: 126,848,884	K981E	possibly damaging	Het
Brwd1	A	T	16: 96,068,584	I81K	probably damaging	Het
Cacng8	T	A	7: 3,412,109	I136N	possibly damaging	Het
Ccdc114	A	G	7: 45,942,088	T259A	probably benign	Het
Cdh22	A	T	2: 165,181,056	W32R	probably damaging	Het
Cel	A	G	2: 28,560,615	S133P	probably damaging	Het
Clasp2	A	G	9: 113,911,500	T495A	possibly damaging	Het
Clock	A	T	5: 76,266,424		probably benign	Het
Cox6a2	A	G	7: 128,205,823		probably benign	Het
Cyp2b19	C	A	7: 26,762,229		probably benign	Het
Dnah11	G	A	12: 118,190,844	Q234*	probably null	Het
Gga3	A	T	11: 115,592,459	N91K	probably damaging	Het
Idh1	T	C	1: 65,161,156	T350A	probably benign	Het
Ints11	A	G	4: 155,887,107		probably null	Het
Itgb1	A	G	8: 128,710,251		probably null	Het
Kansl1	A	T	11: 104,424,368	D281E	probably benign	Het
Kmt2a	T	C	9: 44,818,770		probably benign	Het
Kpna4	T	C	3: 69,101,417	E145G	probably damaging	Het
Lacc1	A	G	14: 77,034,144	I201T	possibly damaging	Het
Larp7	T	C	3: 127,544,235	K392E	probably damaging	Het
Lbh	T	A	17: 72,921,229	M23K	probably benign	Het
Myo15	A	T	11: 60,491,688	E361V	probably damaging	Het
Ncor2	A	G	5: 125,038,982	S470P	probably benign	Het
Ngef	T	A	1: 87,484,601	M449L	probably benign	Het
Olfr18	T	A	9: 20,314,749	Y57F	probably damaging	Het
Olfr322	T	C	11: 58,665,652	I31T	possibly damaging	Het
Peak1	A	T	9: 56,257,832	D937E	probably benign	Het
Pnpla7	A	G	2: 24,982,123	K72E	probably benign	Het
Ptprn	T	G	1: 75,248,138		probably null	Het
Scgn	C	T	13: 23,962,119		probably null	Het
Sdk2	T	C	11: 113,850,922	I824V	probably benign	Het
Slc38a3	A	G	9: 107,655,648	S326P	probably damaging	Het
Spen	A	G	4: 141,471,870	S3126P	probably benign	Het
Tbcd	T	C	11: 121,602,989	C902R	possibly damaging	Het
Tmem63b	T	C	17: 45,661,519	I721V	probably benign	Het
Trim30c	A	G	7: 104,390,451	S46P	probably damaging	Het
Trim59	T	C	3: 69,037,608	D133G	probably damaging	Het
Trpm7	A	T	2: 126,799,239		probably null	Het
Ttll10	A	G	4: 156,043,678	L391P	probably damaging	Het
Ttn	T	C	2: 76,793,241	T15331A	possibly damaging	Het
Vmn1r237	C	T	17: 21,314,714	T233I	probably damaging	Het
Vmn2r115	A	T	17: 23,346,408	D423V	possibly damaging	Het
Vmn2r25	T	A	6: 123,853,017	R58S	probably benign	Het
Vmn2r71	A	T	7: 85,619,308	I240F	probably benign	Het
Wdr3	A	G	3: 100,152,796		probably benign	Het
Zc3h14	T	C	12: 98,779,269		probably null	Het
Zc3hav1	C	T	6: 38,353,902		probably benign	Het
Zfp335	A	T	2: 164,899,495		probably null	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
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

Predicted Primers

PCR Primer
(F):5'- AGACCCTGATGGTCCAAGTATGGAG -3'
(R):5'- TCCCCTGAGGATTTGTCTGACAGTG -3'

Sequencing Primer
(F):5'- ggcatcatctcatctcccaac -3'
(R):5'- AGGATTTGTCTGACAGTGAGACC -3'

Posted On

2013-11-08