Mutagenetix > Incidental Mutation

Incidental Mutation 'R7595:Klk1b4'

587670

Institutional Source

Beutler Lab

Gene Symbol

Klk1b4

Ensembl Gene

ENSMUSG00000066513

Gene Name

kallikrein 1-related pepidase b4

Synonyms

Ngfa, Ngfa, mGk-4

MMRRC Submission

045640-MU

Accession Numbers

Essential gene?

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

Stock #

R7595 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

43856859-43861178 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 43860132 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 82 (D82G)

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: D82G

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000076576
Gene: ENSMUSG00000066513
AA Change: D82G

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.0%

Validation Efficiency

100% (44/44)

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: 44 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930516K23Rik	T	C	7: 103,708,470 (GRCm39)	E113G	probably damaging	Het
Adamts16	A	G	13: 70,878,234 (GRCm39)	F1177S	probably damaging	Het
Alox12	T	A	11: 70,133,230 (GRCm39)	E658V	probably damaging	Het
Anxa6	C	A	11: 54,875,911 (GRCm39)	V591L	probably benign	Het
Atp6ap1l	A	T	13: 91,039,135 (GRCm39)	S141T	probably damaging	Het
Bcar1	A	C	8: 112,447,625 (GRCm39)	N117K	probably benign	Het
Cdh22	A	G	2: 164,954,383 (GRCm39)	S713P	probably benign	Het
Cideb	T	C	14: 55,992,261 (GRCm39)	D144G	probably damaging	Het
Coch	T	A	12: 51,645,016 (GRCm39)	V190D	probably damaging	Het
Cyp4a12a	C	A	4: 115,189,089 (GRCm39)	L473M	probably damaging	Het
Dennd1c	A	C	17: 57,378,633 (GRCm39)	L331R	probably damaging	Het
Dthd1	A	G	5: 62,976,058 (GRCm39)	D244G	probably benign	Het
Dytn	T	C	1: 63,698,161 (GRCm39)	E282G	probably damaging	Het
Eml4	A	G	17: 83,763,513 (GRCm39)	Q576R	probably benign	Het
Fa2h	T	A	8: 112,082,122 (GRCm39)	I175F	probably benign	Het
Fv1	A	G	4: 147,954,627 (GRCm39)	T398A	possibly damaging	Het
Ggh	C	G	4: 20,049,833 (GRCm39)	S88C	probably damaging	Het
Gm5592	A	G	7: 40,935,867 (GRCm39)	D123G	probably damaging	Het
Golph3l	A	G	3: 95,517,094 (GRCm39)	T201A	probably benign	Het
Ikbip	A	G	10: 90,932,447 (GRCm39)	S364G	probably benign	Het
Kcnc3	G	A	7: 44,240,893 (GRCm39)	R195H	probably damaging	Het
Kdm5b	T	A	1: 134,536,704 (GRCm39)	D641E	probably benign	Het
Kif26a	C	T	12: 112,145,759 (GRCm39)	P1757S	probably benign	Het
Klf14	T	C	6: 30,935,475 (GRCm39)	K53R	probably benign	Het
Ly75	A	G	2: 60,124,171 (GRCm39)	F1702S	probably benign	Het
Mfsd4b1	A	T	10: 39,879,221 (GRCm39)	Y225*	probably null	Het
Or8g20	A	C	9: 39,395,611 (GRCm39)	F313V	probably benign	Het
Pcsk4	T	A	10: 80,157,935 (GRCm39)	D601V	possibly damaging	Het
Pkhd1l1	T	A	15: 44,358,917 (GRCm39)	D375E	probably damaging	Het
Primpol	A	G	8: 47,063,650 (GRCm39)	L2S	probably benign	Het
Ralgapb	G	A	2: 158,268,085 (GRCm39)	V63I	possibly damaging	Het
Rptor	T	A	11: 119,634,779 (GRCm39)	N198K	possibly damaging	Het
Samd5	T	C	10: 9,504,738 (GRCm39)	N172S	probably benign	Het
Sorbs1	A	T	19: 40,303,097 (GRCm39)	H542Q	probably damaging	Het
Spopfm1	A	G	3: 94,173,985 (GRCm39)	E327G	probably benign	Het
Spopfm3	A	G	3: 94,105,724 (GRCm39)	D14G	probably benign	Het
Srgn	T	A	10: 62,343,785 (GRCm39)		probably benign	Het
Taar6	C	T	10: 23,860,968 (GRCm39)	V193I	probably benign	Het
Tmem132a	G	A	19: 10,835,569 (GRCm39)	A987V	probably damaging	Het
Trank1	T	C	9: 111,195,059 (GRCm39)	Y1028H	probably damaging	Het
Ttc21a	T	C	9: 119,787,135 (GRCm39)	L714P	probably benign	Het
Wdfy4	C	T	14: 32,696,111 (GRCm39)		probably null	Het
Zswim9	T	C	7: 12,994,998 (GRCm39)	D386G	probably benign	Het
Zwilch	A	G	9: 64,056,546 (GRCm39)		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
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'- ACTGGGGAAGTTCACCTGAG -3'
(R):5'- CACACTTGATGGGTGTAGTGC -3'

Sequencing Primer
(F):5'- GGAAGTTCACCTGAGAAGCTCTC -3'
(R):5'- CTGAGGCTAGGCATGTGCTC -3'

Posted On

2019-10-24