Mutagenetix > Incidental Mutation

Incidental Mutation 'R7122:Klk1b4'

552075

Institutional Source

Beutler Lab

Gene Symbol

Klk1b4

Ensembl Gene

ENSMUSG00000066513

Gene Name

kallikrein 1-related pepidase b4

Synonyms

Ngfa, Ngfa, mGk-4

MMRRC Submission

045245-MU

Accession Numbers

Essential gene?

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

Stock #

R7122 (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 43860531 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Arginine at position 183 (H183R)

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: H183R

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000076576
Gene: ENSMUSG00000066513
AA Change: H183R

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

99% (75/76)

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: 74 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Akr1c20	T	A	13: 4,561,275 (GRCm39)	E126V	probably benign	Het
Alg3	A	T	16: 20,426,602 (GRCm39)	L213H	probably damaging	Het
Atp1a4	T	A	1: 172,059,503 (GRCm39)	Y863F	possibly damaging	Het
Atp6v0e	A	G	17: 26,914,390 (GRCm39)	T72A	probably benign	Het
Aup1	A	G	6: 83,032,123 (GRCm39)	T97A	probably benign	Het
Bcl6	T	C	16: 23,791,652 (GRCm39)	D234G	probably damaging	Het
Cdc42bpa	T	C	1: 179,892,583 (GRCm39)	L249P	probably damaging	Het
Celsr3	A	G	9: 108,705,766 (GRCm39)	K750E	possibly damaging	Het
Ces1g	C	A	8: 94,043,665 (GRCm39)	G425C	possibly damaging	Het
Chl1	T	C	6: 103,683,409 (GRCm39)	L745P	probably damaging	Het
Csmd2	G	A	4: 128,343,020 (GRCm39)	V1471M		Het
Dnah12	G	A	14: 26,500,869 (GRCm39)		probably null	Het
E4f1	G	A	17: 24,663,808 (GRCm39)	Q569*	probably null	Het
Efcab3	A	T	11: 104,899,787 (GRCm39)	I4350F	possibly damaging	Het
Fbxw24	A	T	9: 109,430,328 (GRCm39)	C439S	probably benign	Het
Ftdc2	C	A	16: 58,458,140 (GRCm39)	A54S	probably benign	Het
Gmip	C	T	8: 70,270,452 (GRCm39)	P721S	probably benign	Het
Grip1	A	G	10: 119,871,279 (GRCm39)	I669V	possibly damaging	Het
Gsn	A	T	2: 35,185,061 (GRCm39)	K339*	probably null	Het
Herc1	G	T	9: 66,307,056 (GRCm39)	A959S	possibly damaging	Het
Hic1	A	G	11: 75,060,056 (GRCm39)	V97A	probably benign	Het
Il11ra1	A	G	4: 41,766,189 (GRCm39)	Y242C	probably damaging	Het
Iqsec3	A	C	6: 121,450,317 (GRCm39)	V69G	unknown	Het
Jak3	T	A	8: 72,138,601 (GRCm39)	M933K	probably damaging	Het
Kbtbd7	G	A	14: 79,665,757 (GRCm39)	V530I	probably damaging	Het
Kif22	G	A	7: 126,632,150 (GRCm39)	R345C	probably benign	Het
Klhl7	G	A	5: 24,343,433 (GRCm39)	E250K	probably damaging	Het
Lhfpl4	C	T	6: 113,153,632 (GRCm39)	V140I	probably benign	Het
Lhx5	T	A	5: 120,574,410 (GRCm39)	M238K	probably benign	Het
Lin28b	A	T	10: 45,345,244 (GRCm39)	H27Q	probably benign	Het
Mgat4c	A	T	10: 102,214,070 (GRCm39)	R18*	probably null	Het
Myct1	C	A	10: 5,554,492 (GRCm39)	H120N	probably damaging	Het
Nek1	A	T	8: 61,559,829 (GRCm39)	D984V	probably benign	Het
Nfu1	A	T	6: 86,986,863 (GRCm39)		probably benign	Het
Nipsnap1	A	T	11: 4,833,366 (GRCm39)		probably null	Het
Nlrp9c	A	G	7: 26,085,046 (GRCm39)	Y178H	probably damaging	Het
Nrxn3	T	A	12: 89,477,377 (GRCm39)	M520K	probably damaging	Het
Oacyl	A	G	18: 65,853,323 (GRCm39)	D143G	probably benign	Het
Obox5	A	G	7: 15,492,732 (GRCm39)	Y229C	probably damaging	Het
Or1j12	A	G	2: 36,342,702 (GRCm39)	Y35C	probably damaging	Het
Or1j18	G	A	2: 36,624,436 (GRCm39)	M34I	probably benign	Het
Or2a5	T	C	6: 42,874,024 (GRCm39)	V213A	probably damaging	Het
Or52n5	T	C	7: 104,588,405 (GRCm39)	L224P	probably damaging	Het
Otogl	C	T	10: 107,702,515 (GRCm39)	A713T	probably benign	Het
Pcdhb17	A	C	18: 37,619,566 (GRCm39)	N452T	probably benign	Het
Pi16	A	G	17: 29,545,313 (GRCm39)	Y192C	probably damaging	Het
Pla2g5	T	C	4: 138,531,830 (GRCm39)	D58G	probably damaging	Het
Plpp4	G	T	7: 128,981,207 (GRCm39)	V153F	unknown	Het
Plxna2	C	A	1: 194,326,876 (GRCm39)	S270*	probably null	Het
Pole	T	A	5: 110,472,968 (GRCm39)		probably null	Het
Prmt7	T	C	8: 106,961,732 (GRCm39)	F215S	unknown	Het
Ptpn21	C	T	12: 98,655,171 (GRCm39)	V599I	probably damaging	Het
Rab26	C	A	17: 24,749,652 (GRCm39)	R131L	probably damaging	Het
Raph1	A	T	1: 60,565,136 (GRCm39)	V117D	probably benign	Het
Sacs	T	C	14: 61,447,845 (GRCm39)	V3297A	probably damaging	Het
Serpine1	C	A	5: 137,095,796 (GRCm39)	A262S	probably benign	Het
Sgf29	A	G	7: 126,271,221 (GRCm39)	D193G	probably null	Het
Sh3rf2	G	A	18: 42,237,227 (GRCm39)		probably null	Het
Sipa1l1	T	C	12: 82,469,236 (GRCm39)	V1245A	possibly damaging	Het
Slc22a7	A	G	17: 46,749,224 (GRCm39)	L31P	probably damaging	Het
Slc24a5	G	A	2: 124,930,111 (GRCm39)	V471I	probably benign	Het
Slc26a7	A	T	4: 14,533,639 (GRCm39)	Y395N	probably damaging	Het
Slc38a2	T	C	15: 96,591,182 (GRCm39)	M229V	probably damaging	Het
Sorbs1	G	C	19: 40,365,244 (GRCm39)	R180G	probably benign	Het
Susd1	G	A	4: 59,411,318 (GRCm39)	R225*	probably null	Het
Suz12	T	A	11: 79,884,419 (GRCm39)	F92I	probably damaging	Het
Tmem114	C	A	16: 8,242,610 (GRCm39)		probably benign	Het
Tmem68	A	G	4: 3,564,107 (GRCm39)	V159A	probably benign	Het
Tpra1	T	A	6: 88,885,276 (GRCm39)	I76N	probably damaging	Het
Trim45	A	G	3: 100,839,353 (GRCm39)	T752A	unknown	Het
Trp63	C	A	16: 25,639,227 (GRCm39)	H138Q	probably damaging	Het
Ugt2a2	T	C	5: 87,608,255 (GRCm39)	D528G	possibly damaging	Het
Vmn2r39	T	G	7: 9,017,761 (GRCm39)	K858N	possibly damaging	Het
Zfp629	A	T	7: 127,210,484 (GRCm39)	S442T	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
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
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'- AGTGTGAGTCTTCTCCAAGC -3'
(R):5'- CCTAAGCCAAGTCACAGAGGAG -3'

Sequencing Primer
(F):5'- GTGTGAGTCTTCTCCAAGCAACAG -3'
(R):5'- TAGTACCAGCTACAGGATCCTC -3'

Posted On

2019-05-15