Mutagenetix > Incidental Mutation

Incidental Mutation 'R3979:Klk1b4'

311189

Institutional Source

Beutler Lab

Gene Symbol

Klk1b4

Ensembl Gene

ENSMUSG00000066513

Gene Name

kallikrein 1-related pepidase b4

Synonyms

Ngfa, Ngfa, mGk-4

MMRRC Submission

040942-MU

Accession Numbers

Essential gene?

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

Stock #

R3979 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

43856859-43861178 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 43861017 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glycine to Aspartic acid at position 220 (G220D)

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: G220D

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

SMART Domains

Protein: ENSMUSP00000076576
Gene: ENSMUSG00000066513
AA Change: G220D

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000206046

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 97.2%
20x: 94.8%

Validation Efficiency

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: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb11	A	G	2: 69,154,320 (GRCm39)	V82A	probably benign	Het
Adam28	A	G	14: 68,848,443 (GRCm39)	V671A	probably benign	Het
Ak3	T	A	19: 29,025,118 (GRCm39)	S38C	probably damaging	Het
Arfgef1	A	G	1: 10,279,859 (GRCm39)	V236A	probably benign	Het
Arhgap10	T	C	8: 78,147,354 (GRCm39)	N170S	probably benign	Het
B020004C17Rik	G	T	14: 57,254,645 (GRCm39)	M156I	possibly damaging	Het
Bicral	T	A	17: 47,141,917 (GRCm39)	M1L	unknown	Het
Bop1	A	G	15: 76,338,076 (GRCm39)	L598P	probably damaging	Het
Cachd1	A	T	4: 100,828,085 (GRCm39)	D611V	probably damaging	Het
Cfap70	T	A	14: 20,489,787 (GRCm39)	E246D	probably benign	Het
Chl1	T	A	6: 103,692,245 (GRCm39)	Y294*	probably null	Het
Chrna2	T	A	14: 66,386,402 (GRCm39)	Y183N	probably damaging	Het
Dab2	A	G	15: 6,464,644 (GRCm39)		probably null	Het
Dnajb6	T	C	5: 29,956,006 (GRCm39)	F46L	possibly damaging	Het
Exoc7	T	C	11: 116,187,588 (GRCm39)	E275G	probably benign	Het
Frem2	A	G	3: 53,559,491 (GRCm39)	I1672T	probably benign	Het
Gprc6a	C	A	10: 51,497,197 (GRCm39)	V449L	probably benign	Het
H2-M10.4	A	G	17: 36,772,877 (GRCm39)	V35A	probably benign	Het
Hr	A	G	14: 70,801,024 (GRCm39)	T699A	probably benign	Het
Iffo1	A	G	6: 125,137,552 (GRCm39)		probably benign	Het
Iqgap1	G	A	7: 80,409,682 (GRCm39)	H218Y	probably damaging	Het
Itpr3	A	C	17: 27,304,105 (GRCm39)	K109Q	probably benign	Het
Itpr3	A	G	17: 27,310,546 (GRCm39)	D443G	probably damaging	Het
Katna1	T	C	10: 7,628,518 (GRCm39)	M249T	probably damaging	Het
Krt24	A	G	11: 99,173,596 (GRCm39)	C242R	probably benign	Het
Madd	G	A	2: 91,007,173 (GRCm39)	T313I	possibly damaging	Het
Man1c1	G	C	4: 134,430,749 (GRCm39)	P11R	probably damaging	Het
Mical2	A	G	7: 112,006,885 (GRCm39)		probably null	Het
Neil3	T	C	8: 54,076,699 (GRCm39)	T79A	probably damaging	Het
Nras	A	G	3: 102,967,541 (GRCm39)	I46V	probably benign	Het
Or2w1b	T	A	13: 21,300,031 (GRCm39)	H56Q	probably benign	Het
Or4a66	T	C	2: 88,530,792 (GRCm39)	S294G	probably benign	Het
Ppfia2	A	G	10: 106,666,490 (GRCm39)	T399A	possibly damaging	Het
Rarres1	A	G	3: 67,403,143 (GRCm39)	V86A	probably benign	Het
Rdh19	A	T	10: 127,685,944 (GRCm39)	R19W	possibly damaging	Het
Rock2	A	G	12: 17,022,737 (GRCm39)	K1059E	probably damaging	Het
Sft2d1rt	T	A	11: 45,942,853 (GRCm39)	K90M	probably damaging	Het
Sparcl1	T	C	5: 104,240,647 (GRCm39)	H259R	probably benign	Het
Spata31d1c	A	G	13: 65,182,974 (GRCm39)	D172G	possibly damaging	Het
Stab2	T	C	10: 86,699,320 (GRCm39)	D515G	possibly damaging	Het
Sycp2l	A	G	13: 41,295,440 (GRCm39)	I334M	probably damaging	Het
Tas2r103	A	G	6: 133,013,280 (GRCm39)	L262P	probably benign	Het
Tasor	T	C	14: 27,199,087 (GRCm39)	L1335S	possibly damaging	Het
Tcaf2	A	G	6: 42,619,481 (GRCm39)	V182A	probably damaging	Het
Tcof1	C	T	18: 60,964,605 (GRCm39)	E674K	possibly damaging	Het
Trp63	A	G	16: 25,639,490 (GRCm39)		probably benign	Het
Ttn	A	T	2: 76,575,738 (GRCm39)	W25052R	probably damaging	Het
Ubr1	T	A	2: 120,693,168 (GRCm39)	N1746I	probably benign	Het
Vax2	T	C	6: 83,714,529 (GRCm39)	V148A	probably damaging	Het
Vmn2r112	T	A	17: 22,822,096 (GRCm39)	V258E	probably damaging	Het
Vmn2r96	T	A	17: 18,817,941 (GRCm39)	I698N	probably damaging	Het
Wdr90	A	G	17: 26,078,252 (GRCm39)	V372A	probably benign	Het
Zfp335	C	T	2: 164,752,558 (GRCm39)	G62D	probably benign	Het
Zfp563	G	A	17: 33,324,701 (GRCm39)	R432H	probably benign	Het
Zhx1	T	C	15: 57,916,636 (GRCm39)	T537A	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
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
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'- CTAAGAGCTGGATTCCCTCACC -3'
(R):5'- GAACCATGACTGGGTACTGCAC -3'

Sequencing Primer
(F):5'- CTACTGGCCAGAGCTACCTCTTAG -3'
(R):5'- CCAGAGAATGTCAGAACTTGGACTC -3'

Posted On

2015-04-29