Mutagenetix > Incidental Mutation

Incidental Mutation 'R7347:Kng1'

570309

Institutional Source

Beutler Lab

Gene Symbol

Kng1

Ensembl Gene

ENSMUSG00000022875

Gene Name

kininogen 1

Synonyms

H-kininigen, L-kininogen

MMRRC Submission

045374-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7347 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

23057865-23082078 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 23067787 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Asparagine at position 161 (H161N)

Ref Sequence

ENSEMBL: ENSMUSP00000023589 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

possibly damaging
Transcript: ENSMUST00000023589
AA Change: H161N

PolyPhen 2 Score 0.456 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000023589
Gene: ENSMUSG00000022875
AA Change: H161N

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

possibly damaging
Transcript: ENSMUST00000039492
AA Change: H161N

PolyPhen 2 Score 0.781 (Sensitivity: 0.85; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000040485
Gene: ENSMUSG00000022875
AA Change: H161N

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

possibly damaging
Transcript: ENSMUST00000089902
AA Change: H161N

PolyPhen 2 Score 0.847 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000087346
Gene: ENSMUSG00000022875
AA Change: H161N

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

possibly damaging
Transcript: ENSMUST00000125790
AA Change: H107N

PolyPhen 2 Score 0.456 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000121701
Gene: ENSMUSG00000022875
AA Change: H107N

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.0%

Validation Efficiency

100% (80/80)

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: 82 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1300017J02Rik	T	A	9: 103,282,646 (GRCm38)	E22V	possibly damaging	Het
4930564D02Rik	G	T	3: 105,078,412 (GRCm38)	R47S	unknown	Het
4931408C20Rik	A	T	1: 26,684,467 (GRCm38)	L544Q	probably benign	Het
Abtb2	T	G	2: 103,567,412 (GRCm38)	I229S	probably damaging	Het
Adgre1	T	C	17: 57,420,441 (GRCm38)	L457P	probably damaging	Het
Amer3	C	A	1: 34,587,902 (GRCm38)	D407E	probably damaging	Het
Arhgap20	T	C	9: 51,849,035 (GRCm38)	S729P	probably benign	Het
Asap2	T	G	12: 21,229,457 (GRCm38)	I418S	probably benign	Het
Atp5j2	T	C	5: 145,188,485 (GRCm38)		probably null	Het
Brinp3	T	A	1: 146,902,086 (GRCm38)	V757E	probably benign	Het
Brip1	C	T	11: 86,139,103 (GRCm38)	G572R	probably benign	Het
C3	C	A	17: 57,223,215 (GRCm38)	R462L	probably benign	Het
Cat	T	A	2: 103,463,298 (GRCm38)	H395L	probably benign	Het
Cela3a	T	C	4: 137,402,606 (GRCm38)	N235D	possibly damaging	Het
Cep89	G	A	7: 35,429,928 (GRCm38)	R630H	probably damaging	Het
Cntnap1	G	T	11: 101,185,268 (GRCm38)	G993W	probably damaging	Het
Col9a1	A	G	1: 24,179,403 (GRCm38)		probably null	Het
Coro2b	G	T	9: 62,489,372 (GRCm38)	H29N	probably benign	Het
Dll3	C	T	7: 28,299,111 (GRCm38)	R143H	probably damaging	Het
Dsel	C	T	1: 111,861,573 (GRCm38)	G411S	probably damaging	Het
Dync1i1	T	A	6: 5,784,530 (GRCm38)	*114R	probably null	Het
Ecm2	T	C	13: 49,515,078 (GRCm38)	S86P	probably damaging	Het
Eif5	T	C	12: 111,540,290 (GRCm38)		probably benign	Het
Ets1	T	A	9: 32,733,032 (GRCm38)		probably null	Het
Exph5	A	G	9: 53,375,896 (GRCm38)	N1426D	possibly damaging	Het
Eya2	T	C	2: 165,687,666 (GRCm38)	F110L	probably benign	Het
Flt1	T	A	5: 147,580,381 (GRCm38)	E1032V	probably damaging	Het
Galnt5	A	T	2: 58,017,193 (GRCm38)	H556L	probably benign	Het
Glb1l3	A	T	9: 26,829,003 (GRCm38)	Y344N	probably benign	Het
Glrx3	C	A	7: 137,459,286 (GRCm38)	D216E	possibly damaging	Het
Gm45871	T	A	18: 90,591,375 (GRCm38)	C246S	probably damaging	Het
Gm8251	G	T	1: 44,059,496 (GRCm38)	P814Q	probably damaging	Het
Gm906	T	C	13: 50,245,744 (GRCm38)	I849V	probably benign	Het
Gstm4	A	G	3: 108,042,373 (GRCm38)	L137P	probably benign	Het
Hsd17b13	T	C	5: 103,968,750 (GRCm38)	T169A	probably damaging	Het
Hydin	A	C	8: 110,600,362 (GRCm38)	T4778P	probably benign	Het
Ifna15	A	G	4: 88,557,983 (GRCm38)	L88P	probably damaging	Het
Kcnab1	G	A	3: 65,376,531 (GRCm38)	R390H	probably benign	Het
Lamp5	T	C	2: 136,060,958 (GRCm38)	V199A	probably benign	Het
Lrig3	G	A	10: 126,009,966 (GRCm38)	V755M	probably damaging	Het
Mad1l1	C	T	5: 140,144,044 (GRCm38)	R412H	probably damaging	Het
March6	C	A	15: 31,486,359 (GRCm38)	C350F	probably benign	Het
Mastl	A	G	2: 23,133,389 (GRCm38)	S441P	probably damaging	Het
Mfsd13b	A	T	7: 120,991,728 (GRCm38)	M231L	probably benign	Het
Micalcl	T	C	7: 112,382,151 (GRCm38)	V444A	probably benign	Het
Ms4a6d	G	A	19: 11,590,073 (GRCm38)	Q155*	probably null	Het
Myo15	A	G	11: 60,477,961 (GRCm38)	M516V	probably benign	Het
Myo1b	A	T	1: 51,751,254 (GRCm38)	F1110L	probably damaging	Het
Nbr1	T	A	11: 101,569,321 (GRCm38)	L381*	probably null	Het
Nln	T	C	13: 104,050,847 (GRCm38)	K325E	probably damaging	Het
Nr4a3	T	G	4: 48,051,290 (GRCm38)	S15A	possibly damaging	Het
Nrp2	C	T	1: 62,745,504 (GRCm38)	P271S	probably benign	Het
Obox6	A	C	7: 15,834,646 (GRCm38)	L102V	possibly damaging	Het
Olfr1008	T	C	2: 85,689,837 (GRCm38)	M136T	probably damaging	Het
Olfr1208	T	C	2: 88,897,271 (GRCm38)	I109V	possibly damaging	Het
Olfr1241	T	C	2: 89,482,455 (GRCm38)	S227G	probably benign	Het
Olfr853	A	G	9: 19,537,099 (GRCm38)	M277T	probably damaging	Het
Pde10a	A	G	17: 8,967,462 (GRCm38)	H567R	probably damaging	Het
Pdgfra	C	T	5: 75,183,098 (GRCm38)	S760L	possibly damaging	Het
Pid1	T	A	1: 84,159,129 (GRCm38)	I94L	unknown	Het
Plekhn1	T	C	4: 156,222,671 (GRCm38)	H474R	probably benign	Het
Prcc	A	T	3: 87,869,681 (GRCm38)	S329T	possibly damaging	Het
Pros1	G	T	16: 62,919,523 (GRCm38)	R445L	probably damaging	Het
Pxdn	C	A	12: 30,012,261 (GRCm38)	H1370Q	probably benign	Het
Sgce	T	A	6: 4,694,106 (GRCm38)	R283S	probably damaging	Het
Slc25a20	T	G	9: 108,682,458 (GRCm38)		probably null	Het
Slc6a1	T	C	6: 114,311,818 (GRCm38)	V446A	probably damaging	Het
Slc6a4	C	G	11: 77,017,085 (GRCm38)	Y358*	probably null	Het
Sned1	A	C	1: 93,281,736 (GRCm38)	E857A	probably damaging	Het
Spdye4b	C	T	5: 143,202,390 (GRCm38)	R213C	possibly damaging	Het
Spry2	T	G	14: 105,893,512 (GRCm38)	E80A	probably damaging	Het
Stard9	G	A	2: 120,666,534 (GRCm38)	C142Y	probably benign	Het
Sync	A	T	4: 129,294,306 (GRCm38)	Q377L	probably benign	Het
Tdrd12	A	G	7: 35,485,692 (GRCm38)	C718R		Het
Tgoln1	G	C	6: 72,616,278 (GRCm38)	T73R	probably benign	Het
Tmbim1	T	C	1: 74,291,279 (GRCm38)	E185G	probably benign	Het
Tyk2	T	C	9: 21,108,034 (GRCm38)	M1031V	probably damaging	Het
Vmn1r71	C	T	7: 10,748,501 (GRCm38)	V87I	not run	Het
Vmn2r49	A	G	7: 9,986,814 (GRCm38)	V250A	probably benign	Het
Yipf3	A	C	17: 46,250,827 (GRCm38)	T187P	probably damaging	Het
Zfp148	G	T	16: 33,434,790 (GRCm38)	R50L	possibly damaging	Het
Zfp628	G	A	7: 4,921,818 (GRCm38)	G1013E	probably damaging	Het

Other mutations in Kng1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01460:Kng1	APN	16	23,079,194 (GRCm38)	missense	probably benign	0.26
IGL01754:Kng1	APN	16	23,079,614 (GRCm38)	missense	probably benign	0.10
IGL02049:Kng1	APN	16	23,073,437 (GRCm38)	missense	probably damaging	0.99
IGL02138:Kng1	APN	16	23,067,808 (GRCm38)	missense	probably damaging	0.99
IGL02216:Kng1	APN	16	23,058,533 (GRCm38)	missense	probably damaging	0.98
IGL02230:Kng1	APN	16	23,060,494 (GRCm38)	critical splice donor site	probably null
IGL02630:Kng1	APN	16	23,079,845 (GRCm38)	utr 3 prime	probably benign
IGL03024:Kng1	APN	16	23,074,692 (GRCm38)	missense	possibly damaging	0.92
R0518:Kng1	UTSW	16	23,060,482 (GRCm38)	missense	possibly damaging	0.70
R0521:Kng1	UTSW	16	23,060,482 (GRCm38)	missense	possibly damaging	0.70
R1352:Kng1	UTSW	16	23,067,694 (GRCm38)	critical splice acceptor site	probably null
R1396:Kng1	UTSW	16	23,078,980 (GRCm38)	missense	probably benign	0.00
R1514:Kng1	UTSW	16	23,079,760 (GRCm38)	missense	probably damaging	0.97
R1753:Kng1	UTSW	16	23,079,119 (GRCm38)	missense	possibly damaging	0.68
R2048:Kng1	UTSW	16	23,058,604 (GRCm38)	missense	probably damaging	0.98
R2290:Kng1	UTSW	16	23,079,125 (GRCm38)	missense	possibly damaging	0.79
R2357:Kng1	UTSW	16	23,079,065 (GRCm38)	missense	possibly damaging	0.88
R3014:Kng1	UTSW	16	23,079,370 (GRCm38)	missense	possibly damaging	0.72
R3607:Kng1	UTSW	16	23,067,802 (GRCm38)	missense	probably damaging	1.00
R4322:Kng1	UTSW	16	23,079,520 (GRCm38)	missense	probably benign
R4334:Kng1	UTSW	16	23,079,620 (GRCm38)	missense	possibly damaging	0.88
R4388:Kng1	UTSW	16	23,079,318 (GRCm38)	missense	possibly damaging	0.63
R4558:Kng1	UTSW	16	23,077,418 (GRCm38)	splice site	probably null
R4887:Kng1	UTSW	16	23,067,698 (GRCm38)	missense	possibly damaging	0.71
R5115:Kng1	UTSW	16	23,069,282 (GRCm38)	missense	possibly damaging	0.87
R5288:Kng1	UTSW	16	23,079,092 (GRCm38)	missense	probably damaging	0.96
R5461:Kng1	UTSW	16	23,079,137 (GRCm38)	missense	probably benign	0.19
R5894:Kng1	UTSW	16	23,073,363 (GRCm38)	missense	probably benign	0.08
R6137:Kng1	UTSW	16	23,074,645 (GRCm38)	missense	possibly damaging	0.56
R6260:Kng1	UTSW	16	23,058,621 (GRCm38)	missense	possibly damaging	0.66
R6291:Kng1	UTSW	16	23,079,725 (GRCm38)	missense	probably damaging	1.00
R6620:Kng1	UTSW	16	23,081,482 (GRCm38)	missense	possibly damaging	0.74
R6947:Kng1	UTSW	16	23,077,374 (GRCm38)	missense	probably benign	0.21
R7142:Kng1	UTSW	16	23,079,420 (GRCm38)	missense	probably benign	0.25
R7166:Kng1	UTSW	16	23,079,678 (GRCm38)	missense	probably benign	0.00
R7168:Kng1	UTSW	16	23,079,641 (GRCm38)	missense	probably benign	0.26
R9005:Kng1	UTSW	16	23,079,396 (GRCm38)	missense	probably damaging	0.99
R9388:Kng1	UTSW	16	23,079,638 (GRCm38)	missense	possibly damaging	0.84
R9563:Kng1	UTSW	16	23,060,420 (GRCm38)	missense	probably damaging	1.00
R9689:Kng1	UTSW	16	23,060,474 (GRCm38)	missense	probably damaging	0.98
Z1176:Kng1	UTSW	16	23,079,616 (GRCm38)	missense	probably benign	0.00
Z1177:Kng1	UTSW	16	23,073,389 (GRCm38)	missense	probably benign	0.31

Predicted Primers

PCR Primer
(F):5'- GGATCTTTCTAAATGGTCTCAGGGG -3'
(R):5'- AAACACGGGCACTCTAGGAC -3'

Sequencing Primer
(F):5'- CTAAATGGTCTCAGGGGTTTAGGAC -3'
(R):5'- ACTCTAGGACGATGCCAGCATG -3'

Posted On

2019-09-13