Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02230:Kng1'

285672

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Kng1

Ensembl Gene

ENSMUSG00000022875

Gene Name

kininogen 1

Synonyms

H-kininigen, L-kininogen

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL02230

Quality Score

Status

Chromosome

Chromosomal Location

23057865-23082078 bp(+) (GRCm38)

Type of Mutation

critical splice donor site (1 bp from exon)

DNA Base Change (assembly)

G to T at 23060494 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000121701 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000023589] [ENSMUST00000039492] [ENSMUST00000089902] [ENSMUST00000125790]

AlphaFold

no structure available at present

Predicted Effect

probably null
Transcript: ENSMUST00000023589

SMART Domains

Protein: ENSMUSP00000023589
Gene: ENSMUSG00000022875

Domain	Start	End	E-Value	Type
CY	18	126	3.61e-17	SMART
CY	140	248	6.46e-28	SMART
CY	262	370	2.96e-36	SMART
low complexity region	439	450	N/A	INTRINSIC
low complexity region	494	524	N/A	INTRINSIC
low complexity region	541	555	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000039492

SMART Domains

Protein: ENSMUSP00000040485
Gene: ENSMUSG00000022875

Domain	Start	End	E-Value	Type
CY	18	126	3.61e-17	SMART
CY	140	248	6.46e-28	SMART
CY	262	370	2.96e-36	SMART

Predicted Effect

probably null
Transcript: ENSMUST00000089902

SMART Domains

Protein: ENSMUSP00000087346
Gene: ENSMUSG00000022875

Domain	Start	End	E-Value	Type
CY	18	126	3.61e-17	SMART
CY	140	248	6.46e-28	SMART
CY	262	370	2.96e-36	SMART

Predicted Effect

probably null
Transcript: ENSMUST00000125790

SMART Domains

Protein: ENSMUSP00000121701
Gene: ENSMUSG00000022875

Domain	Start	End	E-Value	Type
Pfam:Cystatin	1	62	6.5e-11	PFAM
Pfam:Cystatin	89	134	1.1e-11	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000136778

Coding Region Coverage

Validation Efficiency

MGI Phenotype

PHENOTYPE: Mice homozygous for a targeted null mutation are viable and grossly unaffected with normal tail vein bleeding times, despite loss of detectable plasma kininogen. However, homozygotes show a significantly longer time to carotid artery occlusion after RoseBengal and laser-induced arterial injury. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 33 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Actn1	T	A	12: 80,171,830	T727S	probably benign	Het
Cyp4a12b	A	T	4: 115,433,996	I374F	probably damaging	Het
Ecel1	T	C	1: 87,152,194	N399S	probably damaging	Het
Fpr-rs3	T	C	17: 20,623,928	E317G	probably damaging	Het
Gm10030	T	A	9: 111,006,390		noncoding transcript	Het
Gm4884	A	T	7: 41,043,405	Q266L	probably damaging	Het
Gpr45	C	A	1: 43,032,656	A153E	probably damaging	Het
Hc	A	G	2: 35,013,670	F991L	probably benign	Het
Hif1a	T	G	12: 73,932,450	D249E	probably damaging	Het
Hsd17b12	A	G	2: 94,045,398	L194P	possibly damaging	Het
Hspg2	T	C	4: 137,518,645	S947P	probably damaging	Het
Lpp	C	T	16: 24,762,145	R204W	probably damaging	Het
Lrrc4	T	A	6: 28,830,880	K245N	probably damaging	Het
Mdga2	G	A	12: 66,655,423	R335*	probably null	Het
Naa16	A	T	14: 79,377,361		probably benign	Het
Ncbp1	C	A	4: 46,165,272	N528K	probably benign	Het
Olfr57	T	A	10: 79,035,042	M82K	probably damaging	Het
Olfr714	A	G	7: 107,074,493	I222V	probably damaging	Het
Pipox	A	G	11: 77,881,206	L364P	probably damaging	Het
R3hdm4	C	A	10: 79,912,091	A206S	probably damaging	Het
Rasgrf2	A	G	13: 91,988,026	I589T	probably damaging	Het
Ror2	C	T	13: 53,110,728	S764N	probably damaging	Het
Sdr16c5	T	C	4: 4,016,354	E24G	probably damaging	Het
Sec24a	T	C	11: 51,709,034	I815V	possibly damaging	Het
Serpina16	A	G	12: 103,675,302	Y55H	probably damaging	Het
Sirt2	C	T	7: 28,778,946	R83C	probably damaging	Het
Sntg1	A	T	1: 8,681,971		probably null	Het
Stmn1	A	G	4: 134,472,913	E99G	probably damaging	Het
Tas2r103	T	C	6: 133,037,056	I16V	possibly damaging	Het
Vit	A	G	17: 78,619,627	K334E	probably damaging	Het
Washc4	T	C	10: 83,581,369	I876T	probably benign	Het
Wrn	A	T	8: 33,317,563	V289D	probably damaging	Het
Zfp318	C	T	17: 46,396,810	R265*	probably null	Het

Other mutations in Kng1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01460:Kng1	APN	16	23079194	missense	probably benign	0.26
IGL01754:Kng1	APN	16	23079614	missense	probably benign	0.10
IGL02049:Kng1	APN	16	23073437	missense	probably damaging	0.99
IGL02138:Kng1	APN	16	23067808	missense	probably damaging	0.99
IGL02216:Kng1	APN	16	23058533	missense	probably damaging	0.98
IGL02630:Kng1	APN	16	23079845	utr 3 prime	probably benign
IGL03024:Kng1	APN	16	23074692	missense	possibly damaging	0.92
R0518:Kng1	UTSW	16	23060482	missense	possibly damaging	0.70
R0521:Kng1	UTSW	16	23060482	missense	possibly damaging	0.70
R1352:Kng1	UTSW	16	23067694	critical splice acceptor site	probably null
R1396:Kng1	UTSW	16	23078980	missense	probably benign	0.00
R1514:Kng1	UTSW	16	23079760	missense	probably damaging	0.97
R1753:Kng1	UTSW	16	23079119	missense	possibly damaging	0.68
R2048:Kng1	UTSW	16	23058604	missense	probably damaging	0.98
R2290:Kng1	UTSW	16	23079125	missense	possibly damaging	0.79
R2357:Kng1	UTSW	16	23079065	missense	possibly damaging	0.88
R3014:Kng1	UTSW	16	23079370	missense	possibly damaging	0.72
R3607:Kng1	UTSW	16	23067802	missense	probably damaging	1.00
R4322:Kng1	UTSW	16	23079520	missense	probably benign
R4334:Kng1	UTSW	16	23079620	missense	possibly damaging	0.88
R4388:Kng1	UTSW	16	23079318	missense	possibly damaging	0.63
R4558:Kng1	UTSW	16	23077418	splice site	probably null
R4887:Kng1	UTSW	16	23067698	missense	possibly damaging	0.71
R5115:Kng1	UTSW	16	23069282	missense	possibly damaging	0.87
R5288:Kng1	UTSW	16	23079092	missense	probably damaging	0.96
R5461:Kng1	UTSW	16	23079137	missense	probably benign	0.19
R5894:Kng1	UTSW	16	23073363	missense	probably benign	0.08
R6137:Kng1	UTSW	16	23074645	missense	possibly damaging	0.56
R6260:Kng1	UTSW	16	23058621	missense	possibly damaging	0.66
R6291:Kng1	UTSW	16	23079725	missense	probably damaging	1.00
R6620:Kng1	UTSW	16	23081482	missense	possibly damaging	0.74
R6947:Kng1	UTSW	16	23077374	missense	probably benign	0.21
R7142:Kng1	UTSW	16	23079420	missense	probably benign	0.25
R7166:Kng1	UTSW	16	23079678	missense	probably benign	0.00
R7168:Kng1	UTSW	16	23079641	missense	probably benign	0.26
R7347:Kng1	UTSW	16	23067787	missense	possibly damaging	0.46
R9005:Kng1	UTSW	16	23079396	missense	probably damaging	0.99
R9388:Kng1	UTSW	16	23079638	missense	possibly damaging	0.84
R9563:Kng1	UTSW	16	23060420	missense	probably damaging	1.00
R9689:Kng1	UTSW	16	23060474	missense	probably damaging	0.98
Z1176:Kng1	UTSW	16	23079616	missense	probably benign	0.00
Z1177:Kng1	UTSW	16	23073389	missense	probably benign	0.31

Posted On

2015-04-16