Mutagenetix > Incidental Mutation

Incidental Mutation 'R5013:Klk1b4'

390640

Institutional Source

Beutler Lab

Gene Symbol

Klk1b4

Ensembl Gene

ENSMUSG00000066513

Gene Name

kallikrein 1-related pepidase b4

Synonyms

Ngfa, Ngfa, mGk-4

MMRRC Submission

042604-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.053) question?

Stock #

R5013 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

43856859-43861178 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 43860492 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Serine at position 170 (N170S)

Ref Sequence

ENSEMBL: ENSMUSP00000076576 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000074359] [ENSMUST00000077354]

AlphaFold

P00757

PDB Structure

CRYSTAL STRUCTURE OF 7S NGF: A COMPLEX OF NERVE GROWTH FACTOR WITH FOUR BINDING PROTEINS (SERINE PROTEINASES) [X-RAY DIFFRACTION]

Predicted Effect

probably benign
Transcript: ENSMUST00000074359

SMART Domains

Protein: ENSMUSP00000073964
Gene: ENSMUSG00000066512

Domain	Start	End	E-Value	Type
Tryp_SPc	24	253	1.49e-100	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000077354
AA Change: N170S

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000076576
Gene: ENSMUSG00000066513
AA Change: N170S

Domain	Start	End	E-Value	Type
Tryp_SPc	10	248	5.88e-81	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000206046

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.6%
20x: 93.3%

Validation Efficiency

100% (86/86)

MGI Phenotype

FUNCTION: This gene encodes the alpha subunit of the 7S nerve growth factor (NGF) complex that is essential for the differentiation and survival of distinct populations of neurons in both the central and the peripheral nervous systems. This gene is located in a cluster of several related kallikrein genes on chromosome 7. [provided by RefSeq, Feb 2016]

Allele List at MGI

Other mutations in this stock

Total: 77 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca12	A	G	1: 71,303,926 (GRCm39)	L2117P	probably damaging	Het
Ago3	A	T	4: 126,262,391 (GRCm39)	S386R	probably benign	Het
Agxt	T	C	1: 93,069,779 (GRCm39)		probably benign	Het
Ahctf1	A	T	1: 179,611,675 (GRCm39)	I565N	possibly damaging	Het
Ank1	C	T	8: 23,572,300 (GRCm39)	T70I	probably damaging	Het
Anxa1	A	G	19: 20,360,287 (GRCm39)	V108A	probably benign	Het
Aqp3	A	G	4: 41,093,819 (GRCm39)	F225L	probably damaging	Het
Atp11b	T	G	3: 35,888,532 (GRCm39)	I934R	possibly damaging	Het
Atp13a5	A	T	16: 29,169,566 (GRCm39)	L42Q	probably damaging	Het
Bcr	A	G	10: 74,960,898 (GRCm39)	D443G	probably benign	Het
Cbfa2t3	G	T	8: 123,365,598 (GRCm39)	D211E	possibly damaging	Het
Ccdc146	A	T	5: 21,538,036 (GRCm39)	L96Q	probably damaging	Het
Cdh16	A	G	8: 105,343,660 (GRCm39)	I612T	probably damaging	Het
Clcn2	G	A	16: 20,525,965 (GRCm39)	P785S	probably damaging	Het
Dennd5a	A	G	7: 109,513,983 (GRCm39)	I743T	possibly damaging	Het
Dnah12	T	A	14: 26,431,326 (GRCm39)	D381E	probably benign	Het
Dnah8	G	A	17: 30,967,542 (GRCm39)	D2585N	probably benign	Het
Dnajc2	G	A	5: 21,962,771 (GRCm39)	R521*	probably null	Het
Dst	T	C	1: 34,289,728 (GRCm39)	V5776A	probably damaging	Het
Eddm13	G	A	7: 6,269,332 (GRCm39)		probably benign	Het
Eif1ad19	T	A	12: 87,740,512 (GRCm39)	K16*	probably null	Het
Ercc4	G	A	16: 12,941,445 (GRCm39)		probably benign	Het
Eya1	T	A	1: 14,254,582 (GRCm39)	N417Y	probably damaging	Het
Fam149b	T	A	14: 20,413,439 (GRCm39)	H219Q	possibly damaging	Het
Fam227b	G	A	2: 125,958,043 (GRCm39)	P241S	probably damaging	Het
Fbxw17	C	T	13: 50,586,506 (GRCm39)	R403C	probably benign	Het
Fer1l4	T	C	2: 155,873,135 (GRCm39)	Y1315C	probably damaging	Het
Gatd1	G	T	7: 140,988,861 (GRCm39)		probably benign	Het
Gm10330	A	T	12: 23,829,961 (GRCm39)	Y73*	probably null	Het
Grn	C	A	11: 102,321,380 (GRCm39)		probably benign	Het
Gsn	T	A	2: 35,188,933 (GRCm39)	Y440N	probably damaging	Het
Hdc	C	T	2: 126,446,220 (GRCm39)	E180K	probably benign	Het
Ilk	A	G	7: 105,391,456 (GRCm39)	D374G	probably damaging	Het
Invs	G	A	4: 48,421,807 (GRCm39)	R813Q	probably damaging	Het
Itln1	T	A	1: 171,360,958 (GRCm39)	K45*	probably null	Het
Ivd	A	G	2: 118,710,946 (GRCm39)	Y385C	probably damaging	Het
Klk1b9	A	C	7: 43,445,419 (GRCm39)	D203A	probably damaging	Het
Lamtor3	A	T	3: 137,630,909 (GRCm39)	R27S	probably damaging	Het
Lcn6	T	A	2: 25,567,082 (GRCm39)		probably null	Het
Lrriq1	T	C	10: 103,025,784 (GRCm39)	D946G	probably damaging	Het
Morc1	A	G	16: 48,322,699 (GRCm39)	D332G	probably benign	Het
Myo15a	T	C	11: 60,382,493 (GRCm39)	I1523T	probably damaging	Het
Nagpa	A	T	16: 5,013,743 (GRCm39)	M365K	probably benign	Het
Nckap5l	G	T	15: 99,324,457 (GRCm39)	P682Q	probably benign	Het
Nfix	A	G	8: 85,498,713 (GRCm39)	F87L	possibly damaging	Het
Nup155	C	A	15: 8,153,722 (GRCm39)	T421K	probably benign	Het
Or5ac25	A	T	16: 59,182,067 (GRCm39)	N171K	probably damaging	Het
Or5ae2	T	C	7: 84,505,646 (GRCm39)	V23A	probably damaging	Het
Or7c74	A	G	2: 37,160,937 (GRCm39)		noncoding transcript	Het
Or8k53	A	T	2: 86,177,647 (GRCm39)	F154L	probably benign	Het
Pate14	T	C	9: 36,549,120 (GRCm39)	N47D	probably benign	Het
Pds5a	A	C	5: 65,792,680 (GRCm39)	V751G	probably benign	Het
Podnl1	G	T	8: 84,852,965 (GRCm39)	C45F	probably damaging	Het
Psme2b	C	T	11: 48,836,654 (GRCm39)	E98K	probably benign	Het
Ptprk	T	A	10: 28,427,713 (GRCm39)	I764N	probably damaging	Het
Rbm33	A	T	5: 28,547,409 (GRCm39)	Q193L	probably benign	Het
Rnasel	C	A	1: 153,629,677 (GRCm39)	H64Q	probably damaging	Het
Ryr1	G	A	7: 28,802,234 (GRCm39)		probably null	Het
Scamp3	A	G	3: 89,088,216 (GRCm39)		probably benign	Het
Sema6b	C	T	17: 56,439,497 (GRCm39)		probably null	Het
Six4	A	C	12: 73,150,400 (GRCm39)	I715R	probably benign	Het
Slc28a2	T	C	2: 122,288,371 (GRCm39)	M554T	possibly damaging	Het
Snhg11	T	C	2: 158,218,872 (GRCm39)		probably benign	Het
Spdya	A	T	17: 71,869,499 (GRCm39)	Y98F	possibly damaging	Het
Tert	T	C	13: 73,794,428 (GRCm39)		probably null	Het
Tex22	G	A	12: 113,052,104 (GRCm39)	C54Y	probably damaging	Het
Tmem198b	C	T	10: 128,637,942 (GRCm39)	R207H	probably damaging	Het
Trbv13-1	C	T	6: 41,093,189 (GRCm39)	Q42*	probably null	Het
Trcg1	T	C	9: 57,149,562 (GRCm39)	L378P	probably damaging	Het
Trpv5	T	G	6: 41,636,647 (GRCm39)	D433A	probably damaging	Het
Ube3b	A	G	5: 114,545,702 (GRCm39)	N654D	probably damaging	Het
Vmn1r17	A	G	6: 57,337,828 (GRCm39)	V130A	probably benign	Het
Vwa7	A	T	17: 35,241,709 (GRCm39)	Y448F	probably damaging	Het
Zan	A	C	5: 137,382,099 (GRCm39)	D5149E	unknown	Het
Zfp106	A	G	2: 120,341,015 (GRCm39)	W1832R	probably damaging	Het
Zfp189	G	A	4: 49,530,438 (GRCm39)	G514S	probably damaging	Het
Zhx1	G	A	15: 57,917,538 (GRCm39)	T236I	possibly damaging	Het

Other mutations in Klk1b4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00518:Klk1b4	APN	7	43,860,456 (GRCm39)	splice site	probably benign
IGL00572:Klk1b4	APN	7	43,860,198 (GRCm39)	missense	possibly damaging	0.79
IGL01314:Klk1b4	APN	7	43,860,600 (GRCm39)	critical splice donor site	probably null
IGL02252:Klk1b4	APN	7	43,860,094 (GRCm39)	nonsense	probably null
IGL03006:Klk1b4	APN	7	43,861,019 (GRCm39)	missense	probably benign	0.08
R0255:Klk1b4	UTSW	7	43,860,158 (GRCm39)	missense	probably benign	0.00
R0277:Klk1b4	UTSW	7	43,861,053 (GRCm39)	missense	possibly damaging	0.78
R0931:Klk1b4	UTSW	7	43,860,480 (GRCm39)	missense	probably damaging	1.00
R1718:Klk1b4	UTSW	7	43,859,096 (GRCm39)	missense	probably damaging	1.00
R1777:Klk1b4	UTSW	7	43,856,875 (GRCm39)	start gained	probably benign
R1894:Klk1b4	UTSW	7	43,859,054 (GRCm39)	missense	probably benign
R1924:Klk1b4	UTSW	7	43,859,105 (GRCm39)	missense	probably benign	0.00
R3979:Klk1b4	UTSW	7	43,861,017 (GRCm39)	missense	probably damaging	1.00
R4044:Klk1b4	UTSW	7	43,860,179 (GRCm39)	missense	probably benign	0.03
R5011:Klk1b4	UTSW	7	43,860,492 (GRCm39)	missense	probably benign	0.01
R5794:Klk1b4	UTSW	7	43,859,069 (GRCm39)	missense	probably damaging	0.99
R7122:Klk1b4	UTSW	7	43,860,531 (GRCm39)	missense	probably damaging	1.00
R7192:Klk1b4	UTSW	7	43,859,045 (GRCm39)	missense	probably benign	0.44
R7595:Klk1b4	UTSW	7	43,860,132 (GRCm39)	missense	probably benign
R8318:Klk1b4	UTSW	7	43,860,335 (GRCm39)	missense	possibly damaging	0.92
R8331:Klk1b4	UTSW	7	43,860,999 (GRCm39)	missense	probably damaging	1.00
R8729:Klk1b4	UTSW	7	43,856,884 (GRCm39)	missense	probably damaging	0.96
R9014:Klk1b4	UTSW	7	43,859,098 (GRCm39)	missense	probably benign	0.06
R9576:Klk1b4	UTSW	7	43,860,477 (GRCm39)	missense	probably benign	0.19

Predicted Primers

PCR Primer
(F):5'- GCCTGCTGACATCACAGATG -3'
(R):5'- TTGAAGTGGAAACCAAGAACCTC -3'

Sequencing Primer
(F):5'- ACAGATGTTGTGAAGCCCATC -3'
(R):5'- AACCTCAGTTCTCTCTTTCAGC -3'

Posted On

2016-06-06