Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01139:Kank3'

278211

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Kank3

Ensembl Gene

ENSMUSG00000042099

Gene Name

KN motif and ankyrin repeat domains 3

Synonyms

D17Ertd288e, 0610013D04Rik, Ankrd47

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.082) question?

Stock #

IGL01139

Quality Score

Status

Chromosome

Chromosomal Location

34029497-34041894 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 34036375 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glycine to Glutamic Acid at position 81 (G81E)

Ref Sequence

ENSEMBL: ENSMUSP00000040126 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000048560] [ENSMUST00000172649] [ENSMUST00000173019] [ENSMUST00000173789]

AlphaFold

Q9Z1P7

Predicted Effect

probably damaging
Transcript: ENSMUST00000048560
AA Change: G81E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000040126
Gene: ENSMUSG00000042099
AA Change: G81E

Domain	Start	End	E-Value	Type
low complexity region	10	22	N/A	INTRINSIC
Pfam:KN_motif	32	73	9.1e-24	PFAM
low complexity region	105	125	N/A	INTRINSIC
low complexity region	138	150	N/A	INTRINSIC
coiled coil region	180	229	N/A	INTRINSIC
low complexity region	317	362	N/A	INTRINSIC
low complexity region	369	385	N/A	INTRINSIC
low complexity region	460	478	N/A	INTRINSIC
low complexity region	485	498	N/A	INTRINSIC
ANK	606	636	3.46e-4	SMART
ANK	640	674	2.88e2	SMART
ANK	679	708	5.41e-6	SMART
ANK	712	742	2.73e-2	SMART
Blast:ANK	746	775	4e-9	BLAST

Predicted Effect

probably benign
Transcript: ENSMUST00000172649

SMART Domains

Protein: ENSMUSP00000133760
Gene: ENSMUSG00000042099

Domain	Start	End	E-Value	Type
coiled coil region	8	41	N/A	INTRINSIC
low complexity region	129	174	N/A	INTRINSIC
low complexity region	181	197	N/A	INTRINSIC
low complexity region	272	290	N/A	INTRINSIC
low complexity region	297	310	N/A	INTRINSIC
ANK	418	448	3.46e-4	SMART
ANK	452	486	2.88e2	SMART
ANK	491	520	5.41e-6	SMART
ANK	524	554	2.73e-2	SMART
Blast:ANK	558	587	3e-9	BLAST

Predicted Effect

probably benign
Transcript: ENSMUST00000173019

SMART Domains

Protein: ENSMUSP00000134615
Gene: ENSMUSG00000067288

Domain	Start	End	E-Value	Type
Pfam:Ribosomal_S28e	1	69	3.6e-37	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000173649

Predicted Effect

probably benign
Transcript: ENSMUST00000173789

SMART Domains

Protein: ENSMUSP00000133625
Gene: ENSMUSG00000042099

Domain	Start	End	E-Value	Type
ANK	22	56	2.88e2	SMART
ANK	61	90	5.41e-6	SMART
ANK	94	124	2.73e-2	SMART
Blast:ANK	128	157	7e-10	BLAST

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000173958

Predicted Effect

probably benign
Transcript: ENSMUST00000174608

SMART Domains

Protein: ENSMUSP00000134656
Gene: ENSMUSG00000042099

Domain	Start	End	E-Value	Type
SCOP:d1bd8__	2	47	9e-5	SMART
PDB:4HBD\|A	8	48	1e-6	PDB
Blast:ANK	23	52	3e-11	BLAST

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 47 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aadacl4fm5	A	T	4: 144,504,259 (GRCm39)	Y297*	probably null	Het
Actr3	A	T	1: 125,333,622 (GRCm39)	I215N	probably damaging	Het
Ambn	C	T	5: 88,612,376 (GRCm39)		probably benign	Het
Arhgef1	T	A	7: 24,625,376 (GRCm39)		probably benign	Het
Arid1a	A	C	4: 133,421,308 (GRCm39)	S832R	unknown	Het
Clca4a	A	T	3: 144,672,030 (GRCm39)	I304N	probably damaging	Het
Dmxl2	G	A	9: 54,366,248 (GRCm39)	P274S	probably damaging	Het
Eif4enif1	T	A	11: 3,171,143 (GRCm39)	D211E	probably damaging	Het
Eri2	A	G	7: 119,385,960 (GRCm39)		probably null	Het
Fhod3	C	T	18: 25,199,401 (GRCm39)	P691S	probably benign	Het
Flnb	A	G	14: 7,945,989 (GRCm38)	S2465G	probably damaging	Het
Ftsj1	G	A	X: 8,112,831 (GRCm39)	R171C	probably damaging	Het
Glb1l3	G	A	9: 26,729,523 (GRCm39)	T648I	probably benign	Het
Gm4222	T	A	2: 89,978,889 (GRCm39)		probably benign	Het
Gm5475	G	A	15: 100,322,096 (GRCm39)		probably benign	Het
Jaml	C	A	9: 45,012,317 (GRCm39)	T268N	possibly damaging	Het
Lrba	A	G	3: 86,549,969 (GRCm39)	T217A	possibly damaging	Het
Ltn1	A	G	16: 87,212,897 (GRCm39)	S555P	probably benign	Het
Map3k15	T	A	X: 158,855,875 (GRCm39)	M350K	probably damaging	Het
Mipol1	C	A	12: 57,352,821 (GRCm39)	Y53*	probably null	Het
Mn1	A	G	5: 111,569,315 (GRCm39)	D1095G	probably damaging	Het
Myh14	T	C	7: 44,255,716 (GRCm39)		probably benign	Het
Nrn1	A	G	13: 36,914,190 (GRCm39)	C31R	probably damaging	Het
Nup210	A	T	6: 91,007,079 (GRCm39)	L579H	possibly damaging	Het
Nxf2	T	C	X: 133,851,145 (GRCm39)	I578V	probably benign	Het
Obscn	G	A	11: 58,969,178 (GRCm39)	A172V	probably damaging	Het
Or10h1b	T	A	17: 33,395,756 (GRCm39)	Y123N	probably damaging	Het
Or9g4	T	G	2: 85,504,841 (GRCm39)	Y218S	probably damaging	Het
Phtf1	A	G	3: 103,912,918 (GRCm39)	D748G	probably damaging	Het
Psd3	A	T	8: 68,361,187 (GRCm39)	Y863N	probably damaging	Het
Psmc6	C	T	14: 45,581,167 (GRCm39)	T321I	probably benign	Het
Rassf6	T	C	5: 90,756,825 (GRCm39)	*31W	probably null	Het
Rictor	A	C	15: 6,807,749 (GRCm39)	K791Q	probably damaging	Het
Slc12a9	C	T	5: 137,321,104 (GRCm39)	M470I	probably damaging	Het
Tex28	A	T	X: 73,194,830 (GRCm39)	M367K	possibly damaging	Het
Thnsl2	A	T	6: 71,115,718 (GRCm39)	V163D	probably damaging	Het
Tmco3	G	A	8: 13,369,887 (GRCm39)	R633Q	possibly damaging	Het
Trf	A	T	9: 103,100,803 (GRCm39)	V224D	probably damaging	Het
Ttc8	C	T	12: 98,930,804 (GRCm39)	Q273*	probably null	Het
Usp9x	A	G	X: 12,970,815 (GRCm39)		probably benign	Het
Vmn2r117	A	G	17: 23,696,778 (GRCm39)	W210R	probably damaging	Het
Vmn2r5	A	G	3: 64,398,826 (GRCm39)	S718P	probably benign	Het
Vps13a	T	C	19: 16,617,989 (GRCm39)	D2932G	probably damaging	Het
Whamm	T	C	7: 81,245,662 (GRCm39)	L706P	probably damaging	Het
Yeats2	G	A	16: 20,033,143 (GRCm39)	V45I	probably damaging	Het
Yipf3	G	A	17: 46,561,383 (GRCm39)		probably null	Het
Zeb1	T	C	18: 5,705,061 (GRCm39)	V26A	possibly damaging	Het

Other mutations in Kank3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00983:Kank3	APN	17	34,040,791 (GRCm39)	missense	probably damaging	1.00
IGL01105:Kank3	APN	17	34,036,375 (GRCm39)	missense	probably damaging	1.00
IGL01106:Kank3	APN	17	34,036,375 (GRCm39)	missense	probably damaging	1.00
IGL01595:Kank3	APN	17	34,038,154 (GRCm39)	critical splice donor site	probably null
IGL02129:Kank3	APN	17	34,036,465 (GRCm39)	missense	probably benign
IGL02364:Kank3	APN	17	34,037,824 (GRCm39)	missense	probably benign
IGL02540:Kank3	APN	17	34,038,161 (GRCm39)	unclassified	probably benign
R0940:Kank3	UTSW	17	34,036,450 (GRCm39)	missense	probably damaging	1.00
R1387:Kank3	UTSW	17	34,035,205 (GRCm39)	missense	possibly damaging	0.90
R1663:Kank3	UTSW	17	34,037,349 (GRCm39)	missense	probably benign	0.00
R1738:Kank3	UTSW	17	34,036,168 (GRCm39)	missense	probably damaging	1.00
R1752:Kank3	UTSW	17	34,038,791 (GRCm39)	missense	probably damaging	1.00
R4194:Kank3	UTSW	17	34,041,237 (GRCm39)	intron	probably benign
R4921:Kank3	UTSW	17	34,036,174 (GRCm39)	missense	probably damaging	1.00
R5001:Kank3	UTSW	17	34,040,746 (GRCm39)	missense	possibly damaging	0.51
R5011:Kank3	UTSW	17	34,041,044 (GRCm39)	missense	probably damaging	1.00
R5111:Kank3	UTSW	17	34,037,155 (GRCm39)	missense	possibly damaging	0.82
R5147:Kank3	UTSW	17	34,041,176 (GRCm39)	missense	probably damaging	1.00
R5282:Kank3	UTSW	17	34,036,917 (GRCm39)	missense	probably benign	0.00
R5752:Kank3	UTSW	17	34,037,037 (GRCm39)	missense	probably benign
R5943:Kank3	UTSW	17	34,037,375 (GRCm39)	missense	probably damaging	1.00
R6027:Kank3	UTSW	17	34,037,088 (GRCm39)	missense	possibly damaging	0.71
R7936:Kank3	UTSW	17	34,037,841 (GRCm39)	missense	probably benign	0.01
R8837:Kank3	UTSW	17	34,036,627 (GRCm39)	missense	probably damaging	0.98
R9170:Kank3	UTSW	17	34,037,242 (GRCm39)	missense	probably damaging	1.00
X0066:Kank3	UTSW	17	34,036,245 (GRCm39)	missense	probably damaging	1.00

Posted On

2015-04-16