Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00851:Kng2'

11684

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Kng2

Ensembl Gene

ENSMUSG00000060459

Gene Name

kininogen 2

Synonyms

Kininogen-II

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL00851

Quality Score

Status

Chromosome

Chromosomal Location

22804602-22847851 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 22847580 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 27 (D27G)

Ref Sequence

ENSEMBL: ENSMUSP00000124161 (fasta)

Gene Model

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

AlphaFold

Q6S9I3

Predicted Effect

probably damaging
Transcript: ENSMUST00000039338
AA Change: D27G

PolyPhen 2 Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000046867
Gene: ENSMUSG00000060459
AA Change: D27G

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: D27G

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000097623
Gene: ENSMUSG00000060459
AA Change: D27G

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

possibly damaging
Transcript: ENSMUST00000115349
AA Change: D27G

PolyPhen 2 Score 0.745 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000111006
Gene: ENSMUSG00000060459
AA Change: D27G

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: D27G

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

SMART Domains

Protein: ENSMUSP00000124161
Gene: ENSMUSG00000060459
AA Change: D27G

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: 19 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca15	T	C	7: 119,939,230 (GRCm39)	F208S	probably damaging	Het
Ank3	T	C	10: 69,710,663 (GRCm39)	I396T	probably damaging	Het
Atp9b	T	G	18: 80,809,125 (GRCm39)	E215A	probably damaging	Het
Ces1c	T	A	8: 93,849,745 (GRCm39)	I70F	probably benign	Het
Cntnap2	T	C	6: 46,461,006 (GRCm39)	Y681H	probably benign	Het
Diaph2	A	G	X: 128,872,296 (GRCm39)	K631R	unknown	Het
Gprasp2	A	G	X: 134,744,500 (GRCm39)	T620A	probably damaging	Het
Hgd	C	T	16: 37,452,057 (GRCm39)	S403F	probably damaging	Het
Hmcn1	T	C	1: 150,458,052 (GRCm39)	K5245E	probably benign	Het
Myh1	C	T	11: 67,108,736 (GRCm39)	T1384M	probably damaging	Het
Myo1f	A	T	17: 33,800,938 (GRCm39)	M260L	probably benign	Het
Plcb2	A	G	2: 118,558,732 (GRCm39)	I24T	probably benign	Het
Prdx1	C	T	4: 116,550,147 (GRCm39)	R110C	probably benign	Het
Ptges3l	T	C	11: 101,314,616 (GRCm39)	E93G	possibly damaging	Het
Ralgapa1	T	C	12: 55,756,360 (GRCm39)	D1126G	possibly damaging	Het
Rbm48	T	C	5: 3,641,739 (GRCm39)	T169A	probably damaging	Het
Serpinb3b	T	A	1: 107,087,435 (GRCm39)	N25Y	probably damaging	Het
Tekt3	T	C	11: 62,961,226 (GRCm39)	Y132H	probably benign	Het
Tmod4	A	T	3: 95,032,891 (GRCm39)	E9V	probably damaging	Het

Other mutations in Kng2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01319:Kng2	APN	16	22,847,584 (GRCm39)	missense	probably damaging	0.99
IGL01469:Kng2	APN	16	22,818,577 (GRCm39)	missense	probably damaging	1.00
IGL01681:Kng2	APN	16	22,815,767 (GRCm39)	splice site	probably benign
IGL01830:Kng2	APN	16	22,806,801 (GRCm39)	missense	probably damaging	0.97
IGL01903:Kng2	APN	16	22,806,540 (GRCm39)	missense	possibly damaging	0.80
IGL02146:Kng2	APN	16	22,806,582 (GRCm39)	missense	probably damaging	0.97
IGL02305:Kng2	APN	16	22,819,374 (GRCm39)	unclassified	probably benign
IGL02429:Kng2	APN	16	22,830,829 (GRCm39)	missense	probably damaging	0.99
FR4548:Kng2	UTSW	16	22,819,302 (GRCm39)	nonsense	probably null
R0020:Kng2	UTSW	16	22,816,046 (GRCm39)	missense	probably benign	0.02
R0047:Kng2	UTSW	16	22,806,313 (GRCm39)	missense	possibly damaging	0.83
R0245:Kng2	UTSW	16	22,830,931 (GRCm39)	splice site	probably benign
R0610:Kng2	UTSW	16	22,819,344 (GRCm39)	missense	possibly damaging	0.96
R0646:Kng2	UTSW	16	22,806,486 (GRCm39)	missense	probably benign	0.10
R0666:Kng2	UTSW	16	22,815,872 (GRCm39)	splice site	probably benign
R1552:Kng2	UTSW	16	22,806,270 (GRCm39)	missense	probably damaging	1.00
R1765:Kng2	UTSW	16	22,806,993 (GRCm39)	critical splice donor site	probably null
R1833:Kng2	UTSW	16	22,830,802 (GRCm39)	missense	possibly damaging	0.95
R1997:Kng2	UTSW	16	22,843,626 (GRCm39)	missense	possibly damaging	0.84
R2025:Kng2	UTSW	16	22,819,325 (GRCm39)	missense	probably benign	0.15
R2056:Kng2	UTSW	16	22,806,703 (GRCm39)	intron	probably benign
R2137:Kng2	UTSW	16	22,816,076 (GRCm39)	intron	probably benign
R2517:Kng2	UTSW	16	22,807,065 (GRCm39)	missense	probably benign	0.24
R3438:Kng2	UTSW	16	22,830,821 (GRCm39)	missense	probably benign	0.23
R3439:Kng2	UTSW	16	22,830,821 (GRCm39)	missense	probably benign	0.23
R3551:Kng2	UTSW	16	22,830,745 (GRCm39)	critical splice donor site	probably null
R4389:Kng2	UTSW	16	22,843,618 (GRCm39)	missense	possibly damaging	0.91
R4538:Kng2	UTSW	16	22,806,813 (GRCm39)	missense	probably benign	0.00
R4684:Kng2	UTSW	16	22,806,391 (GRCm39)	missense	possibly damaging	0.93
R4978:Kng2	UTSW	16	22,806,666 (GRCm39)	missense	probably damaging	1.00
R5658:Kng2	UTSW	16	22,815,770 (GRCm39)	splice site	probably null
R6074:Kng2	UTSW	16	22,819,346 (GRCm39)	missense	probably benign	0.03
R6216:Kng2	UTSW	16	22,806,343 (GRCm39)	missense	probably damaging	1.00
R6271:Kng2	UTSW	16	22,822,698 (GRCm39)	missense	probably benign	0.33
R6459:Kng2	UTSW	16	22,830,865 (GRCm39)	missense	probably damaging	1.00
R7124:Kng2	UTSW	16	22,830,805 (GRCm39)	missense	probably damaging	1.00
R7310:Kng2	UTSW	16	22,806,522 (GRCm39)	missense	probably benign	0.00
R7532:Kng2	UTSW	16	22,845,794 (GRCm39)	splice site	probably null
R7667:Kng2	UTSW	16	22,806,982 (GRCm39)	missense	probably damaging	0.99
R7787:Kng2	UTSW	16	22,818,598 (GRCm39)	missense	probably damaging	1.00
R8092:Kng2	UTSW	16	22,806,672 (GRCm39)	missense	probably benign	0.00
R8165:Kng2	UTSW	16	22,806,246 (GRCm39)	missense	unknown
R8814:Kng2	UTSW	16	22,822,761 (GRCm39)	missense	probably benign	0.00
R9019:Kng2	UTSW	16	22,847,546 (GRCm39)	missense	probably damaging	0.99
R9048:Kng2	UTSW	16	22,806,522 (GRCm39)	missense	probably benign	0.00
R9531:Kng2	UTSW	16	22,830,907 (GRCm39)	missense	possibly damaging	0.81
R9708:Kng2	UTSW	16	22,815,801 (GRCm39)	missense	probably damaging	0.99
R9764:Kng2	UTSW	16	22,822,737 (GRCm39)	missense	probably damaging	1.00

Posted On

2012-12-06