Mutagenetix > Incidental Mutation

Incidental Mutation 'R4503:Kank4'

331892

Institutional Source

Beutler Lab

Gene Symbol

Kank4

Ensembl Gene

ENSMUSG00000035407

Gene Name

KN motif and ankyrin repeat domains 4

Synonyms

Ankrd38

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.072) question?

Stock #

R4503 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

98643135-98705774 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 98665335 bp (GRCm39)

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]

AlphaFold

Q6P9J5

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: 98.6%
10x: 97.2%
20x: 95.3%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 29 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam21	A	G	12: 81,607,672 (GRCm39)	L30P	probably benign	Het
Adamts20	T	C	15: 94,277,631 (GRCm39)	H277R	probably damaging	Het
Arl6ip1	AAAATAAATAAATAAATAAATAAATA	AAAATAAATAAATAAATAAATAAATAAATA	7: 117,721,122 (GRCm39)		probably benign	Het
Atp13a5	G	T	16: 29,112,346 (GRCm39)	N598K	probably benign	Het
Ccdc171	A	G	4: 83,782,560 (GRCm39)	E1284G	probably damaging	Het
Cdk5	G	A	5: 24,624,617 (GRCm39)	T258M	possibly damaging	Het
Col3a1	T	C	1: 45,387,837 (GRCm39)		probably benign	Het
Coro6	A	G	11: 77,360,272 (GRCm39)	E414G	probably benign	Het
Dst	T	C	1: 34,301,334 (GRCm39)		probably null	Het
Fabp3	C	T	4: 130,206,245 (GRCm39)		probably null	Het
Gpr39	G	A	1: 125,605,728 (GRCm39)	V219I	probably benign	Het
H2bc18	A	T	3: 96,177,240 (GRCm39)	K58M	possibly damaging	Het
Mapkbp1	T	C	2: 119,846,187 (GRCm39)	I451T	probably damaging	Het
Ncf2	A	G	1: 152,709,529 (GRCm39)	E342G	probably benign	Het
Or5k15	T	C	16: 58,710,539 (GRCm39)	I15V	probably benign	Het
Or6aa1	T	A	7: 86,044,485 (GRCm39)	T74S	possibly damaging	Het
Pds5b	T	C	5: 150,652,399 (GRCm39)	L222P	probably damaging	Het
Rpl5	T	C	5: 108,052,723 (GRCm39)	F223S	possibly damaging	Het
Sacs	A	G	14: 61,445,052 (GRCm39)	N2366S	probably damaging	Het
Sall2	T	C	14: 52,550,916 (GRCm39)	M758V	probably benign	Het
Sh3tc2	A	G	18: 62,107,694 (GRCm39)	E235G	probably damaging	Het
Slc49a4	T	C	16: 35,539,787 (GRCm39)	M345V	probably benign	Het
Smad2	T	A	18: 76,435,663 (GRCm39)	S419T	probably benign	Het
Sprr3	T	C	3: 92,364,683 (GRCm39)	I54V	possibly damaging	Het
Tbck	A	G	3: 132,456,981 (GRCm39)	T632A	probably benign	Het
Tmem131	T	C	1: 36,864,560 (GRCm39)	T558A	probably benign	Het
Tmem178	C	T	17: 81,293,693 (GRCm39)	T162I	probably benign	Het
Zfp619	A	G	7: 39,186,280 (GRCm39)	H770R	probably damaging	Het
Zfp938	A	G	10: 82,062,105 (GRCm39)	S172P	possibly damaging	Het

Other mutations in Kank4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01069:Kank4	APN	4	98,666,632 (GRCm39)	missense	probably damaging	0.99
IGL02634:Kank4	APN	4	98,667,064 (GRCm39)	missense	probably benign	0.06
IGL02883:Kank4	APN	4	98,661,690 (GRCm39)	missense	possibly damaging	0.87
R0040:Kank4	UTSW	4	98,667,457 (GRCm39)	missense	probably benign	0.03
R0040:Kank4	UTSW	4	98,667,457 (GRCm39)	missense	probably benign	0.03
R0081:Kank4	UTSW	4	98,666,567 (GRCm39)	missense	probably benign	0.02
R0219:Kank4	UTSW	4	98,666,702 (GRCm39)	missense	probably benign	0.06
R0498:Kank4	UTSW	4	98,667,873 (GRCm39)	missense	probably benign
R0609:Kank4	UTSW	4	98,665,342 (GRCm39)	missense	probably damaging	0.99
R0855:Kank4	UTSW	4	98,659,681 (GRCm39)	missense	probably damaging	1.00
R0865:Kank4	UTSW	4	98,662,900 (GRCm39)	splice site	probably benign
R0961:Kank4	UTSW	4	98,644,756 (GRCm39)	missense	probably benign	0.02
R1172:Kank4	UTSW	4	98,653,806 (GRCm39)	missense	probably damaging	1.00
R1173:Kank4	UTSW	4	98,653,806 (GRCm39)	missense	probably damaging	1.00
R1175:Kank4	UTSW	4	98,653,806 (GRCm39)	missense	probably damaging	1.00
R1381:Kank4	UTSW	4	98,668,175 (GRCm39)	missense	probably damaging	0.98
R1517:Kank4	UTSW	4	98,667,266 (GRCm39)	missense	possibly damaging	0.83
R1573:Kank4	UTSW	4	98,663,073 (GRCm39)	nonsense	probably null
R1668:Kank4	UTSW	4	98,667,133 (GRCm39)	missense	probably damaging	0.98
R2051:Kank4	UTSW	4	98,668,339 (GRCm39)	missense	probably damaging	0.99
R2253:Kank4	UTSW	4	98,667,463 (GRCm39)	missense	probably damaging	0.99
R2656:Kank4	UTSW	4	98,667,194 (GRCm39)	missense	probably damaging	0.99
R3801:Kank4	UTSW	4	98,668,370 (GRCm39)	missense	probably damaging	0.97
R3802:Kank4	UTSW	4	98,668,370 (GRCm39)	missense	probably damaging	0.97
R3804:Kank4	UTSW	4	98,668,370 (GRCm39)	missense	probably damaging	0.97
R3945:Kank4	UTSW	4	98,659,517 (GRCm39)	missense	probably damaging	1.00
R4172:Kank4	UTSW	4	98,667,358 (GRCm39)	missense	probably damaging	1.00
R4502:Kank4	UTSW	4	98,665,335 (GRCm39)	missense	possibly damaging	0.89
R5024:Kank4	UTSW	4	98,673,898 (GRCm39)	missense	probably damaging	0.99
R5105:Kank4	UTSW	4	98,667,396 (GRCm39)	missense	probably benign	0.01
R5122:Kank4	UTSW	4	98,644,804 (GRCm39)	missense	probably damaging	1.00
R5255:Kank4	UTSW	4	98,667,209 (GRCm39)	missense	probably benign
R5484:Kank4	UTSW	4	98,663,022 (GRCm39)	missense	probably benign
R5517:Kank4	UTSW	4	98,663,118 (GRCm39)	missense	probably damaging	1.00
R5550:Kank4	UTSW	4	98,659,678 (GRCm39)	missense	probably benign	0.27
R5667:Kank4	UTSW	4	98,653,698 (GRCm39)	critical splice donor site	probably null
R5671:Kank4	UTSW	4	98,653,698 (GRCm39)	critical splice donor site	probably null
R5865:Kank4	UTSW	4	98,659,630 (GRCm39)	missense	possibly damaging	0.50
R6176:Kank4	UTSW	4	98,653,791 (GRCm39)	missense	probably damaging	1.00
R6778:Kank4	UTSW	4	98,649,742 (GRCm39)	missense	probably benign	0.01
R7084:Kank4	UTSW	4	98,659,582 (GRCm39)	missense	probably damaging	1.00
R7085:Kank4	UTSW	4	98,668,183 (GRCm39)	missense	probably benign
R7112:Kank4	UTSW	4	98,649,758 (GRCm39)	missense	probably damaging	0.99
R8307:Kank4	UTSW	4	98,666,915 (GRCm39)	nonsense	probably null
R8431:Kank4	UTSW	4	98,667,509 (GRCm39)	missense	probably benign	0.33
R8447:Kank4	UTSW	4	98,666,729 (GRCm39)	missense	probably damaging	0.99
R8483:Kank4	UTSW	4	98,659,615 (GRCm39)	missense	probably damaging	1.00
R8505:Kank4	UTSW	4	98,673,913 (GRCm39)	start gained	probably benign
R8805:Kank4	UTSW	4	98,668,273 (GRCm39)	missense	possibly damaging	0.93
R8823:Kank4	UTSW	4	98,668,240 (GRCm39)	missense	probably damaging	0.99
R8888:Kank4	UTSW	4	98,653,747 (GRCm39)	missense	possibly damaging	0.88
R8895:Kank4	UTSW	4	98,653,747 (GRCm39)	missense	possibly damaging	0.88
R9155:Kank4	UTSW	4	98,666,563 (GRCm39)	missense	probably benign
R9189:Kank4	UTSW	4	98,668,289 (GRCm39)	nonsense	probably null
R9291:Kank4	UTSW	4	98,666,688 (GRCm39)	missense	probably benign	0.00
R9509:Kank4	UTSW	4	98,663,104 (GRCm39)	missense	possibly damaging	0.86
R9618:Kank4	UTSW	4	98,653,732 (GRCm39)	missense	possibly damaging	0.76
X0027:Kank4	UTSW	4	98,668,160 (GRCm39)	missense	probably benign	0.00
Z1176:Kank4	UTSW	4	98,666,531 (GRCm39)	frame shift	probably null

Predicted Primers

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

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

Posted On

2015-07-21