Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL01319:Kng2'

73989

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 #

IGL01319

Quality Score

Status

Chromosome

Chromosomal Location

22985854-23029482 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 23028834 bp

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Phenylalanine at position 26 (I26F)

Ref Sequence

ENSEMBL: ENSMUSP00000046867 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000039338] [ENSMUST00000100046] [ENSMUST00000115349] [ENSMUST00000160243] [ENSMUST00000231835] [ENSMUST00000232459]

Predicted Effect

probably damaging
Transcript: ENSMUST00000039338
AA Change: I26F

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000046867
Gene: ENSMUSG00000060459
AA Change: I26F

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

possibly damaging
Transcript: ENSMUST00000100046
AA Change: I26F

PolyPhen 2 Score 0.930 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000097623
Gene: ENSMUSG00000060459
AA Change: I26F

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: I26F

PolyPhen 2 Score 0.968 (Sensitivity: 0.77; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000111006
Gene: ENSMUSG00000060459
AA Change: I26F

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: ENSMUST00000160243
AA Change: I26F

PolyPhen 2 Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000124161
Gene: ENSMUSG00000060459
AA Change: I26F

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

Predicted Effect

probably benign
Transcript: ENSMUST00000231835

Predicted Effect

probably benign
Transcript: ENSMUST00000232459

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 43 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abhd18	T	A	3: 40,933,642	V307E	probably benign	Het
Bub1b	T	C	2: 118,614,994	I265T	possibly damaging	Het
Cntnap3	G	A	13: 64,787,837	T404I	probably damaging	Het
Disc1	T	C	8: 125,087,891	S165P	probably damaging	Het
Dock1	T	C	7: 134,789,278	F756L	probably benign	Het
Dock2	A	G	11: 34,698,790	V480A	possibly damaging	Het
Drc3	A	G	11: 60,364,962	D125G	probably null	Het
Emid1	C	T	11: 5,143,859	C96Y	probably damaging	Het
F13b	A	G	1: 139,506,793	N99S	probably damaging	Het
Fam20a	A	G	11: 109,678,458		probably benign	Het
Fancd2	C	A	6: 113,584,899	T1243K	probably damaging	Het
Fbxw14	T	C	9: 109,278,791	K172E	probably damaging	Het
Gm13941	T	C	2: 111,094,805		probably null	Het
Gtpbp4	A	T	13: 8,985,260	N354K	probably benign	Het
Igkv2-116	T	C	6: 68,152,404	L50P	probably benign	Het
Klrb1-ps1	C	T	6: 129,116,585	P23L	possibly damaging	Het
Krt81	G	A	15: 101,463,388	H104Y	probably benign	Het
Lrpprc	T	C	17: 84,705,412		probably benign	Het
Man2a2	C	T	7: 80,361,132	V704M	possibly damaging	Het
Mbip	A	G	12: 56,330,242	V303A	probably benign	Het
Mipep	A	T	14: 60,843,271	M571L	probably benign	Het
Ncan	A	T	8: 70,097,562	V1188D	probably damaging	Het
Pcdhb4	T	C	18: 37,308,513	V292A	probably benign	Het
Pkd1	T	C	17: 24,587,919		probably benign	Het
Ppp2r2c	T	A	5: 36,947,121	S282T	possibly damaging	Het
Rad54l2	C	T	9: 106,719,046	G231D	probably benign	Het
Rnf20	T	G	4: 49,649,326	D443E	probably damaging	Het
Rptor	A	G	11: 119,891,170	M1108V	probably benign	Het
Serpine2	A	G	1: 79,810,694	V182A	probably damaging	Het
Sesn2	C	T	4: 132,499,967		probably benign	Het
Shank1	C	A	7: 44,353,123	A1422E	possibly damaging	Het
Slc13a4	C	T	6: 35,307,353		probably null	Het
Snrnp200	T	C	2: 127,230,127		probably benign	Het
Src	G	A	2: 157,469,503	G461R	probably damaging	Het
Tbxas1	A	G	6: 39,017,973	I178V	probably benign	Het
Tmem2	C	T	19: 21,844,757	P1172L	possibly damaging	Het
Triml1	A	G	8: 43,141,397		probably benign	Het
Tsen2	A	T	6: 115,576,984	Q441L	probably damaging	Het
Ttc23l	A	G	15: 10,509,406		probably benign	Het
Ttc37	A	G	13: 76,129,379	H491R	probably benign	Het
Ttn	T	C	2: 76,881,304		probably benign	Het
Vsig10l	C	T	7: 43,465,254	S293L	probably damaging	Het
Zcchc13	C	A	X: 103,631,000	Q110K	possibly 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
IGL01469:Kng2	APN	16	22999827	missense	probably damaging	1.00
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

2013-10-07