Mutagenetix > Incidental Mutation

Incidental Mutation 'R1752:Kank3'

193666

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

039784-MU

Accession Numbers

Essential gene?

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

Stock #

R1752 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

34029497-34041894 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 34038791 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 570 (V570A)

Ref Sequence

ENSEMBL: ENSMUSP00000040126 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000048249] [ENSMUST00000048560] [ENSMUST00000087342] [ENSMUST00000166693] [ENSMUST00000172649] [ENSMUST00000173019] [ENSMUST00000173132] [ENSMUST00000173844] [ENSMUST00000173879] [ENSMUST00000173789]

AlphaFold

Q9Z1P7

Predicted Effect

probably benign
Transcript: ENSMUST00000048249

SMART Domains

Protein: ENSMUSP00000039692
Gene: ENSMUSG00000041881

Domain	Start	End	E-Value	Type
Pfam:CI-B14_5a	5	102	2.1e-40	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000048560
AA Change: V570A

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000040126
Gene: ENSMUSG00000042099
AA Change: V570A

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: V382A

PolyPhen 2 Score 0.855 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000133760
Gene: ENSMUSG00000042099
AA Change: V382A

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

probably benign
Transcript: ENSMUST00000173132

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000173480

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000174498

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000174788

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000173182

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000173649

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000173958

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

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: 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

Coding Region Coverage

1x: 97.4%
3x: 96.8%
10x: 95.2%
20x: 92.3%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 90 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca7	T	C	10: 79,842,468 (GRCm39)	V1134A	probably benign	Het
Accsl	C	T	2: 93,688,375 (GRCm39)	G420S	probably damaging	Het
Adam29	A	G	8: 56,325,309 (GRCm39)	S382P	probably damaging	Het
Apob	T	C	12: 8,038,766 (GRCm39)	L393P	probably benign	Het
Arhgef19	T	G	4: 140,978,354 (GRCm39)	S616A	probably benign	Het
Atp11a	C	T	8: 12,863,094 (GRCm39)	T91I	probably damaging	Het
Ccdc88b	C	T	19: 6,830,690 (GRCm39)	V751I	probably benign	Het
Ccni	T	C	5: 93,350,315 (GRCm39)		probably benign	Het
Cd2	G	A	3: 101,183,511 (GRCm39)	A266V	probably benign	Het
Cd33	T	C	7: 43,181,722 (GRCm39)	D146G	probably benign	Het
Cdh16	A	G	8: 105,346,505 (GRCm39)		probably null	Het
Chd1	T	C	17: 15,963,494 (GRCm39)		probably null	Het
Chd5	A	T	4: 152,459,590 (GRCm39)	I1109F	probably damaging	Het
Cir1	T	C	2: 73,140,882 (GRCm39)	E29G	probably damaging	Het
Clec5a	T	C	6: 40,559,187 (GRCm39)	T66A	probably damaging	Het
Cpa2	A	G	6: 30,552,023 (GRCm39)	D250G	probably damaging	Het
Crybg2	T	A	4: 133,800,961 (GRCm39)	L707H	probably damaging	Het
Csmd3	T	C	15: 47,523,669 (GRCm39)	T2646A	probably benign	Het
Cul7	G	A	17: 46,964,093 (GRCm39)	R390Q	probably benign	Het
Cyp2c69	T	A	19: 39,869,597 (GRCm39)	I141F	probably damaging	Het
Dapk2	C	G	9: 66,127,925 (GRCm39)	R68G	probably damaging	Het
Dclk2	C	T	3: 86,713,434 (GRCm39)	V470I	possibly damaging	Het
Dixdc1	A	G	9: 50,593,850 (GRCm39)	V530A	probably benign	Het
Dock7	A	G	4: 98,854,681 (GRCm39)	F1528L	probably damaging	Het
Edn1	T	A	13: 42,457,075 (GRCm39)	V36E	possibly damaging	Het
Eng	T	C	2: 32,563,404 (GRCm39)	V319A	probably benign	Het
Epb41l2	A	G	10: 25,336,690 (GRCm39)	K229E	probably damaging	Het
Fam184a	T	C	10: 53,550,666 (GRCm39)	N698S	probably benign	Het
Fndc7	T	C	3: 108,776,646 (GRCm39)	N465S	probably benign	Het
Fstl4	T	C	11: 53,077,622 (GRCm39)	V793A	probably benign	Het
Gm9797	A	T	10: 11,485,287 (GRCm39)		noncoding transcript	Het
Hsd17b4	T	C	18: 50,303,834 (GRCm39)	S436P	probably benign	Het
Itsn2	T	G	12: 4,761,950 (GRCm39)		probably null	Het
Kif13a	A	T	13: 46,951,885 (GRCm39)	F733Y	probably damaging	Het
Kif16b	G	T	2: 142,532,586 (GRCm39)	D1184E	probably benign	Het
Kif20a	A	G	18: 34,764,634 (GRCm39)	D727G	possibly damaging	Het
Kif20b	T	A	19: 34,915,736 (GRCm39)	S504R	probably benign	Het
Lrrc37	T	C	11: 103,505,381 (GRCm39)	T2196A	possibly damaging	Het
Ltbp3	C	A	19: 5,795,685 (GRCm39)	H180Q	probably benign	Het
Luzp2	T	C	7: 54,914,088 (GRCm39)	S306P	possibly damaging	Het
Macf1	T	C	4: 123,377,465 (GRCm39)	I1490V	possibly damaging	Het
Manba	T	A	3: 135,212,706 (GRCm39)	W72R	probably damaging	Het
Mast1	A	G	8: 85,651,965 (GRCm39)	V339A	probably benign	Het
Mnx1	A	G	5: 29,682,727 (GRCm39)	S183P	unknown	Het
Muc5b	T	G	7: 141,421,488 (GRCm39)	L4326R	possibly damaging	Het
Myb	T	C	10: 21,032,336 (GRCm39)	D15G	possibly damaging	Het
Ncapg2	A	T	12: 116,390,338 (GRCm39)	D429V	probably damaging	Het
Neurod6	A	G	6: 55,656,511 (GRCm39)	V42A	probably benign	Het
Nfxl1	A	T	5: 72,698,218 (GRCm39)	C276S	probably damaging	Het
Nptx2	C	A	5: 144,492,171 (GRCm39)	T316N	probably damaging	Het
Nrp2	T	A	1: 62,777,600 (GRCm39)	F135Y	probably damaging	Het
Nxpe3	A	T	16: 55,686,837 (GRCm39)	F57Y	probably benign	Het
Or4c109	C	A	2: 88,817,659 (GRCm39)	A296S	possibly damaging	Het
Or51ag1	T	A	7: 103,155,765 (GRCm39)	R129S	probably benign	Het
Osbpl11	T	C	16: 33,025,205 (GRCm39)	Y144H	probably damaging	Het
Pax5	T	C	4: 44,609,729 (GRCm39)	Y233C	probably damaging	Het
Pck1	A	G	2: 172,998,906 (GRCm39)	N388S	probably benign	Het
Plcd3	T	A	11: 102,971,085 (GRCm39)	Q157L	probably benign	Het
Pnma2	A	C	14: 67,153,785 (GRCm39)	M70L	probably benign	Het
Pogk	T	C	1: 166,235,997 (GRCm39)	K35E	probably damaging	Het
Ptprb	T	A	10: 116,176,895 (GRCm39)	V1227E	probably benign	Het
Pygm	T	A	19: 6,441,064 (GRCm39)	V450E	probably damaging	Het
Rb1	T	A	14: 73,525,064 (GRCm39)	I190F	probably damaging	Het
Setd2	T	A	9: 110,423,673 (GRCm39)	Y2243N	probably damaging	Het
Slc11a2	A	T	15: 100,303,687 (GRCm39)	L182Q	probably damaging	Het
Slc45a3	T	C	1: 131,905,259 (GRCm39)	L94P	probably damaging	Het
Slc9a4	T	C	1: 40,668,421 (GRCm39)	F688S	probably benign	Het
Slit3	A	T	11: 35,455,480 (GRCm39)	I196F	probably damaging	Het
Sprn	G	A	7: 139,733,408 (GRCm39)		probably benign	Het
Spsb2	A	G	6: 124,787,292 (GRCm39)	D242G	probably benign	Het
Srpk2	A	G	5: 23,733,017 (GRCm39)	I111T	probably damaging	Het
St8sia4	T	A	1: 95,519,537 (GRCm39)	Y317F	probably benign	Het
Stat5a	T	A	11: 100,774,884 (GRCm39)	*798K	probably null	Het
Sult1c2	C	T	17: 54,271,777 (GRCm39)	V137M	possibly damaging	Het
Synj1	T	C	16: 90,735,361 (GRCm39)	T1531A	probably benign	Het
Tasor	T	A	14: 27,193,885 (GRCm39)	Y1028*	probably null	Het
Tax1bp1	A	G	6: 52,698,398 (GRCm39)	T37A	probably damaging	Het
Tet1	T	A	10: 62,648,768 (GRCm39)	D1888V	probably damaging	Het
Tln1	T	C	4: 43,536,311 (GRCm39)	T1994A	probably damaging	Het
Tmco3	A	C	8: 13,341,741 (GRCm39)	D5A	probably benign	Het
Tnk1	T	A	11: 69,747,532 (GRCm39)	N74I	possibly damaging	Het
Ttc16	A	T	2: 32,662,162 (GRCm39)	S120T	probably damaging	Het
Ttn	T	A	2: 76,774,448 (GRCm39)	T2153S	probably damaging	Het
Ttn	A	G	2: 76,594,606 (GRCm39)	V20480A	probably damaging	Het
Usp4	T	C	9: 108,251,441 (GRCm39)	Y539H	probably damaging	Het
Zar1	A	C	5: 72,734,715 (GRCm39)	V168G	probably damaging	Het
Zcchc9	T	C	13: 91,953,899 (GRCm39)	K119E	possibly damaging	Het
Zfp251	T	C	15: 76,737,863 (GRCm39)	N410S	possibly damaging	Het
Zfp605	A	T	5: 110,271,639 (GRCm39)	D10V	probably damaging	Het
Zyg11a	A	T	4: 108,062,479 (GRCm39)	N107K	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
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
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

Predicted Primers

PCR Primer
(F):5'- CCTACTTAGAAAGCATTGGCCTCCC -3'
(R):5'- ATCTGTGCCCCTCAGTGATCCAAC -3'

Sequencing Primer
(F):5'- CTAGGGTCACCAAACATGTCTTATG -3'
(R):5'- ACCTGTATCCAGTAGCAGGC -3'

Posted On

2014-05-23