Mutagenetix > Incidental Mutation

Incidental Mutation 'R6027:Kank3'

480138

Institutional Source

Beutler Lab

Gene Symbol

Kank3

Ensembl Gene

ENSMUSG00000042099

Gene Name

KN motif and ankyrin repeat domains 3

Synonyms

D17Ertd288e, 0610013D04Rik, Ankrd47

MMRRC Submission

044199-MU

Accession Numbers

Essential gene?

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

Stock #

R6027 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

34029497-34041894 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 34037088 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Proline to Serine at position 131 (P131S)

Ref Sequence

ENSEMBL: ENSMUSP00000133760 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000048560] [ENSMUST00000087342] [ENSMUST00000166693] [ENSMUST00000172649] [ENSMUST00000173019] [ENSMUST00000173789] [ENSMUST00000173844] [ENSMUST00000173879]

AlphaFold

Q9Z1P7

Predicted Effect

possibly damaging
Transcript: ENSMUST00000048560
AA Change: P319S

PolyPhen 2 Score 0.712 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000040126
Gene: ENSMUSG00000042099
AA Change: P319S

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: ENSMUST00000087342

SMART Domains

Protein: ENSMUSP00000110013
Gene: ENSMUSG00000067288

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

Predicted Effect

probably benign
Transcript: ENSMUST00000166693

SMART Domains

Protein: ENSMUSP00000133642
Gene: ENSMUSG00000067288

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000172649
AA Change: P131S

PolyPhen 2 Score 0.712 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000133760
Gene: ENSMUSG00000042099
AA Change: P131S

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: ENSMUST00000173480

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000173649

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000173958

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

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

Predicted Effect

probably benign
Transcript: ENSMUST00000173844

SMART Domains

Protein: ENSMUSP00000133357
Gene: ENSMUSG00000067288

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

Predicted Effect

probably benign
Transcript: ENSMUST00000173879

SMART Domains

Protein: ENSMUSP00000134240
Gene: ENSMUSG00000067288

Domain	Start	End	E-Value	Type
Pfam:Ribosomal_S28e	1	56	2.5e-33	PFAM

Meta Mutation Damage Score

0.1201

Coding Region Coverage

1x: 99.9%
3x: 99.5%
10x: 97.5%
20x: 92.1%

Validation Efficiency

100% (68/68)

Allele List at MGI

Other mutations in this stock

Total: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acaca	T	C	11: 84,289,003 (GRCm39)	V2299A	probably benign	Het
Acacb	A	G	5: 114,303,661 (GRCm39)	D28G	probably benign	Het
Adamts6	G	A	13: 104,616,043 (GRCm39)	G1035D	probably damaging	Het
Adamts7	A	C	9: 90,073,078 (GRCm39)	Y755S	probably damaging	Het
Afg3l2	G	T	18: 67,554,329 (GRCm39)	L458M	probably damaging	Het
Ank2	T	C	3: 126,791,528 (GRCm39)	T763A	possibly damaging	Het
Armc9	G	C	1: 86,172,389 (GRCm39)	L105F	probably damaging	Het
Asah2	T	C	19: 32,022,351 (GRCm39)	N228D	probably benign	Het
Ash1l	T	C	3: 88,892,326 (GRCm39)	Y1402H	probably damaging	Het
Aspm	T	G	1: 139,390,794 (GRCm39)	V693G	probably damaging	Het
Bptf	T	C	11: 106,965,771 (GRCm39)	E1141G	probably damaging	Het
Col12a1	C	T	9: 79,563,860 (GRCm39)		probably null	Het
Csmd2	G	A	4: 128,453,739 (GRCm39)	D3475N	unknown	Het
Dctn5	T	C	7: 121,732,564 (GRCm39)		probably benign	Het
Dhrs4	A	G	14: 55,723,580 (GRCm39)	K18E	probably benign	Het
Eci2	A	T	13: 35,169,930 (GRCm39)		probably null	Het
Efcab6	A	G	15: 83,851,922 (GRCm39)	F319L	probably benign	Het
Elane	A	T	10: 79,722,852 (GRCm39)	H86L	probably damaging	Het
Endod1	A	T	9: 14,268,893 (GRCm39)	Y197*	probably null	Het
Eno4	A	G	19: 58,935,262 (GRCm39)	D158G	probably damaging	Het
Fam217a	T	A	13: 35,094,977 (GRCm39)	T170S	possibly damaging	Het
Fbxo7	A	G	10: 85,883,950 (GRCm39)	D517G	probably damaging	Het
Fkbp3	G	T	12: 65,120,692 (GRCm39)	A2E	possibly damaging	Het
Gan	A	G	8: 117,885,034 (GRCm39)	Y54C	probably damaging	Het
Gdap1l1	T	A	2: 163,293,531 (GRCm39)	N194K	possibly damaging	Het
Gnptab	A	G	10: 88,269,087 (GRCm39)	T597A	probably damaging	Het
Hmcn1	A	G	1: 150,678,646 (GRCm39)	S492P	possibly damaging	Het
Hmox1	C	A	8: 75,823,499 (GRCm39)	H56N	probably damaging	Het
Kif14	T	C	1: 136,410,797 (GRCm39)		probably null	Het
Kif1a	A	T	1: 92,953,365 (GRCm39)	M1274K	probably benign	Het
Kmt2a	A	T	9: 44,730,587 (GRCm39)		probably benign	Het
Lypla1	T	C	1: 4,907,299 (GRCm39)		probably null	Het
Man2b1	C	T	8: 85,823,381 (GRCm39)	T905I	probably damaging	Het
Mmp15	C	A	8: 96,098,804 (GRCm39)	H544N	probably benign	Het
Myh7	A	T	14: 55,208,259 (GRCm39)	N1933K	probably benign	Het
Ndst4	G	T	3: 125,507,025 (GRCm39)	A730S	probably benign	Het
Nmur1	G	A	1: 86,315,053 (GRCm39)	Q238*	probably null	Het
Nwd2	C	T	5: 63,965,563 (GRCm39)	P1716S	possibly damaging	Het
Or13c7c	A	G	4: 43,835,842 (GRCm39)	V216A	probably benign	Het
Or8b36	ATTGCTGTTT	ATTGCTGTTTGCTGTTT	9: 37,937,836 (GRCm39)		probably null	Het
Or8k38	T	G	2: 86,488,148 (GRCm39)	Y218S	probably damaging	Het
P2ry6	T	G	7: 100,587,715 (GRCm39)	M215L	probably benign	Het
Parp4	G	A	14: 56,866,615 (GRCm39)	E1060K	probably benign	Het
Pde10a	A	G	17: 9,183,509 (GRCm39)	I822V	possibly damaging	Het
Pira13	T	C	7: 3,827,638 (GRCm39)	Y173C	possibly damaging	Het
Pkd1l1	C	A	11: 8,866,272 (GRCm39)	G528*	probably null	Het
Ptk2	T	A	15: 73,101,762 (GRCm39)	Q816L	probably damaging	Het
Ptprg	T	C	14: 12,220,613 (GRCm38)	F442L	possibly damaging	Het
Qrfpr	A	G	3: 36,276,187 (GRCm39)	Y68H	probably benign	Het
Ripk4	A	G	16: 97,545,274 (GRCm39)	W458R	probably damaging	Het
Ros1	G	T	10: 52,040,064 (GRCm39)	T309N	possibly damaging	Het
Rps27a	T	C	11: 29,497,808 (GRCm39)		probably benign	Het
Sarm1	T	A	11: 78,374,384 (GRCm39)	M577L	probably benign	Het
Scin	T	C	12: 40,127,515 (GRCm39)	Y425C	probably damaging	Het
Serpina12	T	A	12: 103,997,336 (GRCm39)	Y395F	probably benign	Het
Sfxn2	T	A	19: 46,571,291 (GRCm39)	Y69*	probably null	Het
Skint6	T	C	4: 112,953,761 (GRCm39)		probably null	Het
Slc7a1	A	C	5: 148,270,774 (GRCm39)	I564S	possibly damaging	Het
Smc6	T	A	12: 11,356,179 (GRCm39)	Y933N	probably benign	Het
Sp110	T	C	1: 85,505,039 (GRCm39)	S438G	possibly damaging	Het
St8sia4	T	A	1: 95,581,399 (GRCm39)	R114S	probably damaging	Het
Trim11	C	T	11: 58,869,289 (GRCm39)	A75V	possibly damaging	Het
Tufm	T	A	7: 126,086,920 (GRCm39)	H68Q	probably damaging	Het
Ythdc2	T	A	18: 44,993,503 (GRCm39)	D194E	probably benign	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
IGL01139: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
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

Predicted Primers

PCR Primer
(F):5'- ACCTCGGATCGTGGAGTGC -3'
(R):5'- AGACTGAGGCCTGGTCACTG -3'

Sequencing Primer
(F):5'- AAGGAGCGCTGCAGGTGCTCGA -3'
(R):5'- GTGGGCCTCCTCCAACTC -3'

Posted On

2017-06-26