Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL01469:Kng2'

88194

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Kng2

Ensembl Gene

ENSMUSG00000060459

Gene Name

kininogen 2

Synonyms

Kininogen-II

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL01469

Quality Score

Status

Chromosome

Chromosomal Location

22985854-23029482 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 22999827 bp

Zygosity

Heterozygous

Amino Acid Change

Lysine to Isoleucine at position 305 (K305I)

Ref Sequence

ENSEMBL: ENSMUSP00000097623 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000039338] [ENSMUST00000100046] [ENSMUST00000115349] [ENSMUST00000160243] [ENSMUST00000232459]

Predicted Effect

probably damaging
Transcript: ENSMUST00000039338
AA Change: K305I

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

SMART Domains

Protein: ENSMUSP00000046867
Gene: ENSMUSG00000060459
AA Change: K305I

Domain	Start	End	E-Value	Type
CY	18	126	3.72e-19	SMART
CY	140	248	2.57e-22	SMART
CY	262	370	2.06e-35	SMART
low complexity region	376	390	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000100046
AA Change: K305I

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

SMART Domains

Protein: ENSMUSP00000097623
Gene: ENSMUSG00000060459
AA Change: K305I

Domain	Start	End	E-Value	Type
CY	18	126	3.72e-19	SMART
CY	140	248	2.57e-22	SMART
CY	262	370	2.06e-35	SMART
low complexity region	376	390	N/A	INTRINSIC
low complexity region	478	506	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000115349
AA Change: K305I

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000111006
Gene: ENSMUSG00000060459
AA Change: K305I

Domain	Start	End	E-Value	Type
CY	18	126	3.72e-19	SMART
CY	140	248	2.57e-22	SMART
CY	262	370	2.06e-35	SMART
low complexity region	376	390	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000160243

SMART Domains

Protein: ENSMUSP00000124161
Gene: ENSMUSG00000060459

Domain	Start	End	E-Value	Type
CY	18	126	3.72e-19	SMART
Blast:CY	140	171	2e-15	BLAST

Predicted Effect

probably damaging
Transcript: ENSMUST00000231872
AA Change: K44I

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

Predicted Effect

probably benign
Transcript: ENSMUST00000232459

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 41 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9430007A20Rik	A	G	4: 144,528,622	Q204R	possibly damaging	Het
Actn2	C	T	13: 12,310,910	E60K	possibly damaging	Het
Alpk1	T	C	3: 127,677,752		probably null	Het
Ccdc107	A	G	4: 43,495,751	N218S	probably benign	Het
Cdh23	A	T	10: 60,597,725	M60K	probably benign	Het
Cenpe	A	G	3: 135,228,806	Q378R	probably damaging	Het
Dnah8	T	A	17: 30,683,714		probably benign	Het
Eif2b4	T	C	5: 31,187,767	D190G	probably benign	Het
Fmo5	A	G	3: 97,651,568	N448S	probably benign	Het
Gal3st2c	A	G	1: 94,009,317	N328S	probably benign	Het
Gbf1	A	T	19: 46,279,364	E1271V	probably damaging	Het
Ifitm6	A	T	7: 141,016,812	V16D	probably damaging	Het
Ighv2-4	A	G	12: 113,653,346		probably null	Het
Lrp1	C	T	10: 127,584,414	R900Q	probably damaging	Het
Maml1	A	G	11: 50,266,526	M274T	probably damaging	Het
Med23	A	G	10: 24,882,597	E278G	probably damaging	Het
Myo1h	A	G	5: 114,361,269	T164A	probably damaging	Het
Ncoa2	A	T	1: 13,186,869	S135R	probably benign	Het
Nrbf2	A	G	10: 67,270,140	L41P	probably damaging	Het
Olfr108	T	A	17: 37,445,535	S5T	probably benign	Het
Olfr341	T	C	2: 36,479,824	Y102C	probably benign	Het
Olfr514	A	G	7: 108,825,327	V224A	probably benign	Het
Olfr678	T	A	7: 105,070,388	M307K	probably benign	Het
Olfr782	A	G	10: 129,350,580	M6V	probably benign	Het
Otoa	T	C	7: 121,155,273		probably null	Het
Pih1d3	A	T	1: 31,223,429	D164V	probably damaging	Het
Plxnb1	T	C	9: 109,105,415		probably benign	Het
Ppp1r42	A	T	1: 10,003,233		probably null	Het
Rad54l2	T	A	9: 106,722,758	K100M	probably damaging	Het
Rnf112	T	A	11: 61,451,341	T308S	possibly damaging	Het
Scaper	T	C	9: 55,859,767	D466G	probably damaging	Het
Sgsm2	T	A	11: 74,853,871	I796L	possibly damaging	Het
Shank3	T	C	15: 89,521,274	L476P	probably damaging	Het
Shkbp1	T	C	7: 27,355,941	T6A	probably benign	Het
Slc14a2	A	T	18: 78,155,566	I783N	probably damaging	Het
Stat1	A	G	1: 52,147,370	D447G	possibly damaging	Het
Tekt3	T	G	11: 63,073,468	I208S	probably damaging	Het
Tenm3	A	T	8: 48,236,423	V2043E	probably damaging	Het
Tgm3	T	C	2: 130,024,494	Y111H	probably damaging	Het
Tph2	T	A	10: 115,079,759	R459*	probably null	Het
Vmn2r109	T	C	17: 20,541,409	Y562C	probably damaging	Het

Other mutations in Kng2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00851:Kng2	APN	16	23028830	missense	probably damaging	1.00
IGL01319:Kng2	APN	16	23028834	missense	probably damaging	0.99
IGL01681:Kng2	APN	16	22997017	splice site	probably benign
IGL01830:Kng2	APN	16	22988051	missense	probably damaging	0.97
IGL01903:Kng2	APN	16	22987790	missense	possibly damaging	0.80
IGL02146:Kng2	APN	16	22987832	missense	probably damaging	0.97
IGL02305:Kng2	APN	16	23000624	unclassified	probably benign
IGL02429:Kng2	APN	16	23012079	missense	probably damaging	0.99
FR4548:Kng2	UTSW	16	23000552	nonsense	probably null
R0020:Kng2	UTSW	16	22997296	missense	probably benign	0.02
R0047:Kng2	UTSW	16	22987563	missense	possibly damaging	0.83
R0245:Kng2	UTSW	16	23012181	splice site	probably benign
R0610:Kng2	UTSW	16	23000594	missense	possibly damaging	0.96
R0646:Kng2	UTSW	16	22987736	missense	probably benign	0.10
R0666:Kng2	UTSW	16	22997122	splice site	probably benign
R1552:Kng2	UTSW	16	22987520	missense	probably damaging	1.00
R1765:Kng2	UTSW	16	22988243	critical splice donor site	probably null
R1833:Kng2	UTSW	16	23012052	missense	possibly damaging	0.95
R1997:Kng2	UTSW	16	23024876	missense	possibly damaging	0.84
R2025:Kng2	UTSW	16	23000575	missense	probably benign	0.15
R2056:Kng2	UTSW	16	22987953	intron	probably benign
R2137:Kng2	UTSW	16	22997326	intron	probably benign
R2517:Kng2	UTSW	16	22988315	missense	probably benign	0.24
R3438:Kng2	UTSW	16	23012071	missense	probably benign	0.23
R3439:Kng2	UTSW	16	23012071	missense	probably benign	0.23
R3551:Kng2	UTSW	16	23011995	critical splice donor site	probably null
R4389:Kng2	UTSW	16	23024868	missense	possibly damaging	0.91
R4538:Kng2	UTSW	16	22988063	missense	probably benign	0.00
R4684:Kng2	UTSW	16	22987641	missense	possibly damaging	0.93
R4978:Kng2	UTSW	16	22987916	missense	probably damaging	1.00
R5658:Kng2	UTSW	16	22997020	splice site	probably null
R6074:Kng2	UTSW	16	23000596	missense	probably benign	0.03
R6216:Kng2	UTSW	16	22987593	missense	probably damaging	1.00
R6271:Kng2	UTSW	16	23003948	missense	probably benign	0.33
R6459:Kng2	UTSW	16	23012115	missense	probably damaging	1.00
R7124:Kng2	UTSW	16	23012055	missense	probably damaging	1.00
R7310:Kng2	UTSW	16	22987772	missense	probably benign	0.00
R7532:Kng2	UTSW	16	23027044	splice site	probably null
R7667:Kng2	UTSW	16	22988232	missense	probably damaging	0.99
R7787:Kng2	UTSW	16	22999848	missense	probably damaging	1.00
R8092:Kng2	UTSW	16	22987922	missense	probably benign	0.00
R8165:Kng2	UTSW	16	22987496	missense	unknown

Posted On

2013-11-18