Mutagenetix > Incidental Mutation

Incidental Mutation 'R4044:Klk1b4'

313981

Institutional Source

Beutler Lab

Gene Symbol

Klk1b4

Ensembl Gene

ENSMUSG00000066513

Gene Name

kallikrein 1-related pepidase b4

Synonyms

Ngfa, Ngfa, mGk-4

MMRRC Submission

040967-MU

Accession Numbers

Essential gene?

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

Stock #

R4044 (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 43860179 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Valine at position 98 (M98V)

Ref Sequence

ENSEMBL: ENSMUSP00000076576 (fasta)

Gene Model

predicted gene model for transcript(s): [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: ENSMUST00000077354
AA Change: M98V

PolyPhen 2 Score 0.031 (Sensitivity: 0.95; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000076576
Gene: ENSMUSG00000066513
AA Change: M98V

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000206046

Meta Mutation Damage Score

0.0731

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.1%
20x: 94.5%

Validation Efficiency

100% (45/45)

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: 43 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930579C12Rik	T	A	9: 89,044,347 (GRCm39)		noncoding transcript	Het
Ada	A	T	2: 163,577,380 (GRCm39)	I36N	probably damaging	Het
Armh3	A	T	19: 45,808,763 (GRCm39)	Y643N	probably damaging	Het
Atg7	T	C	6: 114,678,939 (GRCm39)	V384A	probably benign	Het
Ccl1	T	A	11: 82,070,519 (GRCm39)	I18L	probably benign	Het
Cep70	T	A	9: 99,144,662 (GRCm39)	C66S	possibly damaging	Het
D16Ertd472e	A	T	16: 78,372,894 (GRCm39)	D14E	probably damaging	Het
Dnah9	T	C	11: 66,024,461 (GRCm39)	K278E	probably benign	Het
Dsg1a	C	A	18: 20,457,087 (GRCm39)	N153K	probably damaging	Het
Galnt5	T	A	2: 57,888,472 (GRCm39)	I24N	probably damaging	Het
Grid1	A	T	14: 35,172,358 (GRCm39)		probably benign	Het
Gtf2a1	T	C	12: 91,542,441 (GRCm39)	H47R	probably benign	Het
Igf1r	A	G	7: 67,839,810 (GRCm39)	T706A	possibly damaging	Het
Itih4	A	T	14: 30,616,995 (GRCm39)	N517I	probably damaging	Het
Jam3	C	A	9: 27,013,159 (GRCm39)		probably null	Het
Katnip	A	G	7: 125,467,913 (GRCm39)	I1366V	probably benign	Het
Kndc1	A	G	7: 139,504,044 (GRCm39)	E1116G	probably benign	Het
Ksr2	C	T	5: 117,693,127 (GRCm39)	R192*	probably null	Het
L3mbtl4	T	C	17: 69,084,909 (GRCm39)	S607P	possibly damaging	Het
Map6	T	C	7: 98,917,256 (GRCm39)	C10R	probably damaging	Het
Myo3a	A	G	2: 22,467,712 (GRCm39)	E322G	probably damaging	Het
Nell1	A	G	7: 49,869,367 (GRCm39)	N214S	probably damaging	Het
Npm3	T	C	19: 45,736,692 (GRCm39)	E149G	possibly damaging	Het
Or4k35	C	T	2: 111,099,927 (GRCm39)	V262I	probably benign	Het
Or5h24	G	A	16: 58,919,124 (GRCm39)	T77I	unknown	Het
Orc3	G	A	4: 34,587,055 (GRCm39)	Q345*	probably null	Het
Otol1	A	G	3: 69,935,112 (GRCm39)	D368G	probably damaging	Het
Pals1	G	A	12: 78,871,613 (GRCm39)	E398K	probably benign	Het
Pramel26	T	A	4: 143,538,170 (GRCm39)	N267I	probably benign	Het
Prss40	G	T	1: 34,599,960 (GRCm39)	S9*	probably null	Het
Radx	C	T	X: 138,407,752 (GRCm39)	S364L	probably damaging	Het
Reln	A	T	5: 22,333,630 (GRCm39)	V264D	possibly damaging	Het
Rpp40	A	G	13: 36,082,549 (GRCm39)	C275R	probably benign	Het
Scaf1	G	A	7: 44,655,798 (GRCm39)		probably benign	Het
Sncaip	A	G	18: 53,040,475 (GRCm39)	T890A	probably benign	Het
Spata6l	A	T	19: 28,923,183 (GRCm39)	C80S	possibly damaging	Het
Thada	A	G	17: 84,749,135 (GRCm39)	V612A	probably benign	Het
Tsnaxip1	G	A	8: 106,560,177 (GRCm39)		probably null	Het
Vcan	T	A	13: 89,840,662 (GRCm39)	L1627F	probably benign	Het
Vrtn	T	C	12: 84,695,844 (GRCm39)	I198T	probably damaging	Het
Wnt9b	T	C	11: 103,622,824 (GRCm39)	D193G	probably damaging	Het
Znrd2	T	C	19: 5,780,431 (GRCm39)	E189G	probably damaging	Het
Zswim5	A	G	4: 116,843,899 (GRCm39)	D979G	probably 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
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'- AGAAGCTCTCAGGCCTGC -3'
(R):5'- ACACTTGATGGGTGTAGTGCT -3'

Sequencing Primer
(F):5'- TGCCTCTCTGACTCAATATGTATG -3'
(R):5'- ATGGGTGTAGTGCTGCCCC -3'

Posted On

2015-04-30