Mutagenetix > Incidental Mutation

Incidental Mutation 'R1718:Klk1b4'

191201

Institutional Source

Beutler Lab

Gene Symbol

Klk1b4

Ensembl Gene

ENSMUSG00000066513

Gene Name

kallikrein 1-related pepidase b4

Synonyms

Ngfa, mGk-4, Ngfa

MMRRC Submission

039751-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.063) question?

Stock #

R1718 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

44207435-44211754 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 44209672 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 38 (Y38C)

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 damaging
Transcript: ENSMUST00000077354
AA Change: Y38C

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

SMART Domains

Protein: ENSMUSP00000076576
Gene: ENSMUSG00000066513
AA Change: Y38C

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000206046

Meta Mutation Damage Score

0.6467

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.6%
20x: 93.5%

Validation Efficiency

100% (69/69)

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: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2210408I21Rik	G	T	13: 77,245,370		probably benign	Het
Acot3	T	G	12: 84,053,943		probably null	Het
Acox1	A	T	11: 116,174,682	C523*	probably null	Het
Adamts19	G	A	18: 58,972,825	C764Y	probably damaging	Het
Agrn	GCTCT	GCTCTCT	4: 156,166,519		probably null	Het
Apob	A	G	12: 8,016,087	K4319R	probably benign	Het
AU016765	A	C	17: 64,555,438		noncoding transcript	Het
Bpifb1	T	A	2: 154,213,983		probably null	Het
Btn2a2	A	G	13: 23,481,936	V242A	probably benign	Het
Camta1	A	G	4: 151,084,024	S1281P	probably benign	Het
Ccdc116	T	C	16: 17,141,908	K306E	probably benign	Het
Cemip	A	G	7: 83,935,658	V1350A	probably benign	Het
Clip2	A	T	5: 134,502,929	L674*	probably null	Het
Cyp2d12	T	A	15: 82,558,050	D244E	probably benign	Het
Cyp4x1	A	G	4: 115,111,670	V379A	possibly damaging	Het
Dnah9	T	A	11: 66,168,079	H130L	possibly damaging	Het
Enpp7	A	G	11: 118,990,983	Y318C	probably damaging	Het
Fras1	A	T	5: 96,554,889		probably null	Het
Glra3	G	T	8: 55,940,907	A18S	probably benign	Het
Gm28042	T	A	2: 120,036,391	S172T	possibly damaging	Het
Gm7808	T	A	9: 19,928,003		probably benign	Het
Gm8909	A	G	17: 36,161,784		probably benign	Het
Gpr61	C	T	3: 108,150,380	V322M	possibly damaging	Het
Hapln3	A	G	7: 79,123,450	V15A	unknown	Het
Ip6k1	G	A	9: 108,040,996	E77K	possibly damaging	Het
Lrrfip1	A	G	1: 91,115,555	K561E	probably damaging	Het
Map3k1	A	G	13: 111,755,419	C1101R	probably benign	Het
Mcoln2	A	G	3: 146,190,474		probably benign	Het
Mfsd2b	G	A	12: 4,869,037	T73I	probably damaging	Het
Mfsd4b5	C	T	10: 39,975,203	V19I	probably benign	Het
Mgme1	T	A	2: 144,272,318	D113E	probably benign	Het
Mki67	A	G	7: 135,695,494	S2604P	probably damaging	Het
Mob3c	A	G	4: 115,831,644	I125V	probably benign	Het
Mrps9	G	A	1: 42,903,399	R339H	probably damaging	Het
Ndst1	T	C	18: 60,707,803	D269G	probably damaging	Het
Nedd9	T	C	13: 41,338,926	N30S	probably damaging	Het
Notch4	G	A	17: 34,576,763		probably benign	Het
Olfr1095	A	T	2: 86,851,187	N170K	probably benign	Het
Olfr250	A	G	9: 38,367,594	D6G	probably benign	Het
Olfr877	G	A	9: 37,855,453	V212I	probably benign	Het
Olfr995	T	C	2: 85,438,805	M118V	probably benign	Het
Papss1	C	A	3: 131,619,185	R447S	probably damaging	Het
Pla2g4a	C	T	1: 149,871,523		probably benign	Het
Rab11fip2	A	G	19: 59,935,649	F266L	probably damaging	Het
Ralgapb	T	A	2: 158,443,280	Y554*	probably null	Het
Rem2	T	C	14: 54,479,150	V240A	probably damaging	Het
Retsat	T	C	6: 72,602,671	V143A	probably benign	Het
Rnf141	G	T	7: 110,821,273	Q175K	probably damaging	Het
Rtcb	C	A	10: 85,942,017	G431V	probably damaging	Het
Slc7a6os	A	G	8: 106,204,339	W222R	probably damaging	Het
Smarcc2	T	C	10: 128,468,998		probably benign	Het
Smchd1	A	T	17: 71,448,833	Y218N	possibly damaging	Het
Sp110	G	A	1: 85,594,385	H66Y	probably benign	Het
Speg	G	A	1: 75,417,863	E1739K	probably benign	Het
Speg	A	G	1: 75,421,744	Q1945R	possibly damaging	Het
Sprtn	T	C	8: 124,898,357	V67A	probably damaging	Het
Tktl2	G	A	8: 66,512,347	V186M	probably damaging	Het
Tnks1bp1	G	T	2: 85,071,738	E997D	probably benign	Het
Tti1	A	T	2: 158,008,224	V365E	probably benign	Het
Tulp4	A	G	17: 6,222,440	I590V	probably benign	Het
Vmn2r61	A	G	7: 42,300,697	D847G	probably benign	Het
Zfp184	A	G	13: 21,959,272	T383A	possibly damaging	Het
Zik1	T	A	7: 10,492,341	E33V	probably damaging	Het
Zik1	C	A	7: 10,492,342	E33*	probably null	Het

Other mutations in Klk1b4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00518:Klk1b4	APN	7	44211032	splice site	probably benign
IGL00572:Klk1b4	APN	7	44210774	missense	possibly damaging	0.79
IGL01314:Klk1b4	APN	7	44211176	critical splice donor site	probably null
IGL02252:Klk1b4	APN	7	44210670	nonsense	probably null
IGL03006:Klk1b4	APN	7	44211595	missense	probably benign	0.08
R0255:Klk1b4	UTSW	7	44210734	missense	probably benign	0.00
R0277:Klk1b4	UTSW	7	44211629	missense	possibly damaging	0.78
R0931:Klk1b4	UTSW	7	44211056	missense	probably damaging	1.00
R1777:Klk1b4	UTSW	7	44207451	start gained	probably benign
R1894:Klk1b4	UTSW	7	44209630	missense	probably benign
R1924:Klk1b4	UTSW	7	44209681	missense	probably benign	0.00
R3979:Klk1b4	UTSW	7	44211593	missense	probably damaging	1.00
R4044:Klk1b4	UTSW	7	44210755	missense	probably benign	0.03
R5011:Klk1b4	UTSW	7	44211068	missense	probably benign	0.01
R5013:Klk1b4	UTSW	7	44211068	missense	probably benign	0.01
R5794:Klk1b4	UTSW	7	44209645	missense	probably damaging	0.99
R7122:Klk1b4	UTSW	7	44211107	missense	probably damaging	1.00
R7192:Klk1b4	UTSW	7	44209621	missense	probably benign	0.44
R7595:Klk1b4	UTSW	7	44210708	missense	probably benign
R8318:Klk1b4	UTSW	7	44210911	missense	possibly damaging	0.92
R8331:Klk1b4	UTSW	7	44211575	missense	probably damaging	1.00
R8729:Klk1b4	UTSW	7	44207460	missense	probably damaging	0.96
R9014:Klk1b4	UTSW	7	44209674	missense	probably benign	0.06
R9576:Klk1b4	UTSW	7	44211053	missense	probably benign	0.19

Predicted Primers

PCR Primer
(F):5'- TTGATCTCCCTATCGAGGACCAGC -3'
(R):5'- AGAGTTTCAGCCAGTTCCACCTGC -3'

Sequencing Primer
(F):5'- ATATATGGGTCCCTTCCCCAGATG -3'
(R):5'- AGTTCCACCTGCCTGCC -3'

Posted On

2014-05-14