Mutagenetix > Incidental Mutation

Incidental Mutation 'R9014:Klk1b4'

685837

Institutional Source

Beutler Lab

Gene Symbol

Klk1b4

Ensembl Gene

ENSMUSG00000066513

Gene Name

kallikrein 1-related pepidase b4

Synonyms

Ngfa, Ngfa, mGk-4

MMRRC Submission

068844-MU

Accession Numbers

Essential gene?

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

Stock #

R9014 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

43856859-43861178 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 43859098 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Cysteine at position 39 (R39C)

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: R39C

PolyPhen 2 Score 0.061 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000076576
Gene: ENSMUSG00000066513
AA Change: R39C

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.7%

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: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aco2	A	G	15: 81,798,857 (GRCm39)	N746S	probably benign	Het
Ahnak2	T	C	12: 112,740,170 (GRCm39)	T1301A	possibly damaging	Het
Akap6	T	A	12: 53,186,403 (GRCm39)	N1272K	possibly damaging	Het
Apc	G	T	18: 34,354,074 (GRCm39)		probably benign	Het
Arap1	A	G	7: 101,053,540 (GRCm39)	S1290G	probably damaging	Het
Arhgef25	T	C	10: 127,019,607 (GRCm39)	Y483C	probably damaging	Het
Arpp21	G	T	9: 112,006,796 (GRCm39)	Q138K	probably damaging	Het
Bahcc1	C	T	11: 120,163,715 (GRCm39)	A671V	probably benign	Het
Bahcc1	T	C	11: 120,173,048 (GRCm39)	S1557P	probably benign	Het
Bltp2	T	C	11: 78,160,488 (GRCm39)	L649P	possibly damaging	Het
Brca2	C	A	5: 150,465,219 (GRCm39)	T1661K	probably benign	Het
Casq1	T	A	1: 172,038,064 (GRCm39)	S356C	probably damaging	Het
Catsperg1	T	C	7: 28,906,066 (GRCm39)	Y171C	probably damaging	Het
Ccdc88c	G	C	12: 100,879,323 (GRCm39)	Q1926E	probably benign	Het
Cdc42bpg	T	A	19: 6,372,289 (GRCm39)	M1425K	possibly damaging	Het
Chac2	C	T	11: 30,936,158 (GRCm39)	R30Q	probably damaging	Het
Clca3a1	T	C	3: 144,442,731 (GRCm39)	D771G	probably benign	Het
Cyp26c1	T	C	19: 37,675,844 (GRCm39)		probably null	Het
Dcaf8	T	C	1: 172,007,530 (GRCm39)	V333A	possibly damaging	Het
Dennd4c	G	A	4: 86,739,702 (GRCm39)	S997N	probably benign	Het
Dennd4c	A	C	4: 86,754,666 (GRCm39)	I1559L	probably benign	Het
Dgcr8	T	G	16: 18,077,514 (GRCm39)	H632P	possibly damaging	Het
Dhx16	C	A	17: 36,193,490 (GRCm39)	R278S	probably benign	Het
Dsel	A	T	1: 111,788,509 (GRCm39)	Y675*	probably null	Het
Dsp	T	C	13: 38,376,700 (GRCm39)	I1495T	possibly damaging	Het
Fam227a	T	A	15: 79,504,958 (GRCm39)	N495I	possibly damaging	Het
Fcgbpl1	A	G	7: 27,854,876 (GRCm39)	E1834G	probably damaging	Het
Focad	T	A	4: 88,275,763 (GRCm39)	M1124K	unknown	Het
Foxi3	A	G	6: 70,937,815 (GRCm39)	H349R	probably damaging	Het
Foxp1	TTGCTGCTGCTGCTGCTGCTGTTGCTGCTGCTGCTGTTGTTGCTGCTGCTGTTGCTGCTGTTGCTGCTGCTGCTGCTGCTGCTGTTGCTGCTGCTGCTGTTGCTGCTGCTG	TTGCTGCTGCTGCTGCTGTTGCTGCTGCTGCTGTTGTTGCTGCTGCTGTTGCTGCTGTTGCTGCTGCTGCTGCTGCTGCTGTTGCTGCTGCTGCTGTTGCTGCTGCTG	6: 99,052,866 (GRCm39)		probably benign	Het
Fsip2	C	A	2: 82,806,898 (GRCm39)	D1072E	probably benign	Het
Fsip2	T	G	2: 82,817,075 (GRCm39)	H4269Q	possibly damaging	Het
Fzd10	C	G	5: 128,679,369 (GRCm39)	P363R	probably damaging	Het
Gm49383	A	C	12: 69,243,425 (GRCm39)	Y151*	probably null	Het
Ighv1-26	T	A	12: 114,752,033 (GRCm39)	S104C	probably damaging	Het
Kat6a	A	G	8: 23,430,087 (GRCm39)	N1814S	unknown	Het
Kif18a	T	A	2: 109,123,414 (GRCm39)	H229Q	probably damaging	Het
Lgr6	T	C	1: 134,931,248 (GRCm39)	I269V	probably damaging	Het
Lrtm2	A	G	6: 119,294,219 (GRCm39)	V304A	probably damaging	Het
Lsm8	A	G	6: 18,853,632 (GRCm39)	D78G	possibly damaging	Het
Mroh2b	T	C	15: 4,928,670 (GRCm39)	M1T	probably null	Het
Ms4a14	T	C	19: 11,278,871 (GRCm39)	E1229G	possibly damaging	Het
Nbeal1	G	A	1: 60,329,118 (GRCm39)	D2179N	probably damaging	Het
Nfix	G	A	8: 85,448,405 (GRCm39)	T366M	possibly damaging	Het
Or12j4	A	T	7: 140,045,883 (GRCm39)		probably benign	Het
Or56b1b	A	G	7: 108,164,882 (GRCm39)	L40P	possibly damaging	Het
Or8b49	T	C	9: 38,506,123 (GRCm39)	V202A	probably damaging	Het
Or8h9	T	A	2: 86,789,035 (GRCm39)	I256F	probably benign	Het
Pear1	T	C	3: 87,658,479 (GRCm39)	Q964R	probably benign	Het
Pgk2	T	G	17: 40,518,687 (GRCm39)	E247A	probably benign	Het
Ppfia2	C	T	10: 106,763,666 (GRCm39)	P1220S	probably benign	Het
Ppp1r1b	T	C	11: 98,241,449 (GRCm39)	S46P	probably damaging	Het
Ppp2ca	C	A	11: 52,009,510 (GRCm39)	H167Q	probably damaging	Het
Scel	A	T	14: 103,822,575 (GRCm39)	R396S	probably benign	Het
Siae	T	C	9: 37,557,639 (GRCm39)	V482A	possibly damaging	Het
Skint2	A	G	4: 112,483,026 (GRCm39)	M144V	probably benign	Het
Slc23a3	A	G	1: 75,109,274 (GRCm39)	F219L	probably benign	Het
Slc4a4	G	T	5: 89,280,245 (GRCm39)	A348S	probably damaging	Het
Spin1	G	T	13: 51,282,010 (GRCm39)		probably null	Het
Tab2	G	A	10: 7,794,920 (GRCm39)	R521W	probably damaging	Het
Tas2r118	G	A	6: 23,970,049 (GRCm39)	T4M	probably benign	Het
Tet2	T	A	3: 133,172,949 (GRCm39)	D1771V	probably damaging	Het
Tmprss15	T	C	16: 78,872,691 (GRCm39)	T172A	probably benign	Het
Trav7-6	A	G	14: 53,954,604 (GRCm39)	K65E	probably benign	Het
Txnrd3	A	G	6: 89,631,091 (GRCm39)	Y129C	probably damaging	Het
Ulk4	A	G	9: 121,017,294 (GRCm39)	I728T	probably benign	Het
Vmn1r44	G	A	6: 89,870,997 (GRCm39)	V248M	possibly damaging	Het
Wdr64	A	G	1: 175,526,395 (GRCm39)	I15V	probably benign	Het
Zdhhc17	T	C	10: 110,785,544 (GRCm39)	T423A	probably benign	Het
Zfp619	T	C	7: 39,187,246 (GRCm39)	I1092T	probably benign	Het
Zfp729b	A	T	13: 67,740,274 (GRCm39)	Y664N	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
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
R9576:Klk1b4	UTSW	7	43,860,477 (GRCm39)	missense	probably benign	0.19

Predicted Primers

PCR Primer
(F):5'- AGCATTGATCTCCCTATCGAGG -3'
(R):5'- GTTTCAGCCAGTTCCACCTG -3'

Sequencing Primer
(F):5'- CTATCGAGGACCAGCCATATATG -3'
(R):5'- ACCTGCCTGCCCTTCAGTAC -3'

Posted On

2021-10-11