Mutagenetix > Incidental Mutation

Incidental Mutation 'R8331:Klk1b4'

644366

Institutional Source

Beutler Lab

Gene Symbol

Klk1b4

Ensembl Gene

ENSMUSG00000066513

Gene Name

kallikrein 1-related pepidase b4

Synonyms

Ngfa, Ngfa, mGk-4

MMRRC Submission

067860-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.057) question?

Stock #

R8331 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

43856859-43861178 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 43860999 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Tyrosine at position 214 (C214Y)

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 damaging
Transcript: ENSMUST00000077354
AA Change: C214Y

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

SMART Domains

Protein: ENSMUSP00000076576
Gene: ENSMUSG00000066513
AA Change: C214Y

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.8%

Validation Efficiency

100% (75/75)

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: 76 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcd4	C	A	12: 84,650,726 (GRCm39)	A545S	probably damaging	Het
Alox12e	A	T	11: 70,211,923 (GRCm39)	S195R	probably benign	Het
Angpt1	T	C	15: 42,539,653 (GRCm39)	R69G	probably damaging	Het
Apob	A	G	12: 8,051,882 (GRCm39)	Q1149R	probably benign	Het
As3mt	A	T	19: 46,697,445 (GRCm39)	E71V	probably damaging	Het
Atp9a	A	T	2: 168,517,217 (GRCm39)	V372E	probably benign	Het
Bmal1	C	A	7: 112,912,703 (GRCm39)	N586K	probably benign	Het
Bmp2k	T	C	5: 97,192,928 (GRCm39)	F259S	probably damaging	Het
Cacna1c	T	C	6: 118,607,290 (GRCm39)	T1364A		Het
Casp7	T	A	19: 56,429,397 (GRCm39)	I261N	probably damaging	Het
Ccdc154	A	G	17: 25,386,927 (GRCm39)	K319E	probably benign	Het
Cdc42bpg	C	A	19: 6,363,477 (GRCm39)	L446I	probably benign	Het
Cdkl3	A	T	11: 51,917,704 (GRCm39)	T334S	probably benign	Het
Cep250	T	A	2: 155,832,173 (GRCm39)	L1366Q	probably damaging	Het
Chp2	G	A	7: 121,821,133 (GRCm39)	D165N	probably damaging	Het
Ckap5	T	A	2: 91,406,545 (GRCm39)	M782K	probably damaging	Het
Col20a1	T	A	2: 180,638,559 (GRCm39)	I433N	possibly damaging	Het
Col4a2	A	T	8: 11,463,985 (GRCm39)	R320*	probably null	Het
Ctsc	A	G	7: 87,946,328 (GRCm39)	H119R	possibly damaging	Het
Cubn	T	C	2: 13,345,053 (GRCm39)	H2121R	probably damaging	Het
Cyp4v3	G	A	8: 45,768,745 (GRCm39)	R272*	probably null	Het
D630045J12Rik	T	C	6: 38,125,409 (GRCm39)	E1535G	probably damaging	Het
Dido1	A	T	2: 180,302,242 (GRCm39)	D1887E	probably benign	Het
Dnah6	T	C	6: 73,001,983 (GRCm39)	E3903G	probably benign	Het
Eif4a3l2	T	C	6: 116,529,323 (GRCm39)	I400T	probably damaging	Het
Ep300	T	C	15: 81,485,411 (GRCm39)	S133P	unknown	Het
Ercc3	T	C	18: 32,373,871 (GRCm39)	S73P	probably damaging	Het
Fis1	T	C	5: 136,991,987 (GRCm39)		probably null	Het
Fscb	T	A	12: 64,520,242 (GRCm39)	D408V	probably benign	Het
Gm17087	A	G	17: 8,785,539 (GRCm39)	W55R	probably damaging	Het
Gm3404	A	T	5: 146,462,759 (GRCm39)	S41C	probably damaging	Het
Greb1l	T	C	18: 10,458,706 (GRCm39)	S96P	possibly damaging	Het
Irf3	C	T	7: 44,650,383 (GRCm39)	P300S	probably damaging	Het
Krtap5-3	T	A	7: 141,755,563 (GRCm39)	C133*	probably null	Het
Map3k12	T	A	15: 102,410,766 (GRCm39)	R448*	probably null	Het
Map4k2	C	G	19: 6,402,853 (GRCm39)	A738G	probably damaging	Het
Matn2	A	T	15: 34,428,827 (GRCm39)	K730N	probably damaging	Het
Mpp3	C	T	11: 101,902,541 (GRCm39)		probably null	Het
N4bp2	T	A	5: 65,964,943 (GRCm39)	D997E	probably damaging	Het
Nav2	C	T	7: 49,102,371 (GRCm39)	P390S	probably benign	Het
Nme8	A	G	13: 19,843,036 (GRCm39)	S380P	probably damaging	Het
Nup210	C	T	6: 91,030,648 (GRCm39)	D878N	possibly damaging	Het
Odad3	C	T	9: 21,903,007 (GRCm39)	R441H	probably damaging	Het
Or4k49	A	G	2: 111,494,727 (GRCm39)	D52G	possibly damaging	Het
Or8c18	A	G	9: 38,203,381 (GRCm39)	I47V	possibly damaging	Het
Osbpl9	C	A	4: 108,923,378 (GRCm39)	W427L	probably damaging	Het
Pcdhb12	T	C	18: 37,570,342 (GRCm39)	V496A	probably damaging	Het
Pdlim1	G	A	19: 40,218,995 (GRCm39)	T212I	possibly damaging	Het
Phc2	C	T	4: 128,605,987 (GRCm39)	Q270*	probably null	Het
Pi4kb	G	A	3: 94,903,995 (GRCm39)	R527Q	probably null	Het
Platr25	G	T	13: 62,848,717 (GRCm39)	H48Q	probably benign	Het
Polr1a	C	T	6: 71,953,163 (GRCm39)	T1577M	probably damaging	Het
Ptprf	C	T	4: 118,083,263 (GRCm39)	V915M	probably benign	Het
Ptprh	A	G	7: 4,552,480 (GRCm39)	L928S	probably damaging	Het
Qrsl1	T	C	10: 43,752,521 (GRCm39)	N434S	probably damaging	Het
Slc44a4	T	A	17: 35,140,545 (GRCm39)	L246H	probably damaging	Het
Steap3	A	T	1: 120,169,218 (GRCm39)	C360S	possibly damaging	Het
Stk10	A	G	11: 32,538,928 (GRCm39)	T256A		Het
Tatdn3	A	T	1: 190,778,408 (GRCm39)	L261Q	probably damaging	Het
Thnsl1	T	A	2: 21,216,985 (GRCm39)	F246L	probably benign	Het
Thsd7a	A	G	6: 12,471,157 (GRCm39)	V487A		Het
Tmem41a	A	C	16: 21,766,116 (GRCm39)		probably null	Het
Togaram2	G	A	17: 72,036,221 (GRCm39)	V924M	probably damaging	Het
Trabd	T	C	15: 88,969,131 (GRCm39)	F185S	probably damaging	Het
Traf1	T	C	2: 34,838,370 (GRCm39)	D156G	probably damaging	Het
Ttn	T	C	2: 76,710,482 (GRCm39)	E8513G	unknown	Het
Txlna	C	A	4: 129,533,279 (GRCm39)	S83I	probably damaging	Het
Utrn	T	G	10: 12,490,363 (GRCm39)	T6P	probably benign	Het
Vmn2r26	T	A	6: 124,038,887 (GRCm39)	S821T	probably benign	Het
Wdhd1	A	T	14: 47,509,702 (GRCm39)		probably null	Het
Wnk1	T	C	6: 119,930,794 (GRCm39)	I917V	probably benign	Het
Wscd2	A	G	5: 113,688,996 (GRCm39)	M1V	probably null	Het
Xkr6	A	G	14: 64,056,392 (GRCm39)	H357R	unknown	Het
Zfhx2	G	T	14: 55,309,444 (GRCm39)	T885K	probably benign	Het
Zfp583	C	T	7: 6,320,554 (GRCm39)	E153K	probably benign	Het
Zmynd11	A	G	13: 9,745,190 (GRCm39)	M243T	probably benign	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
R5013: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
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'- CTCCTAAGAGCTGGATTCCCTC -3'
(R):5'- TGAACCATGACTGGGTACTGC -3'

Sequencing Primer
(F):5'- TAAGAGCTGGATTCCCTCACCTAC -3'
(R):5'- AGAACTTGGACTCATTTGCTGC -3'

Posted On

2020-09-02