Mutagenetix > Incidental Mutation

Incidental Mutation 'R7866:Klk1b22'

607775

Institutional Source

Beutler Lab

Gene Symbol

Klk1b22

Ensembl Gene

ENSMUSG00000060177

Gene Name

kallikrein 1-related peptidase b22

Synonyms

Klk22, Egfbp1, Egfbp-1, mGk-22

MMRRC Submission

045918-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.050) question?

Stock #

R7866 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

43762097-43766346 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 43762168 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Phenylalanine at position 15 (I15F)

Ref Sequence

ENSEMBL: ENSMUSP00000076733 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000077528]

AlphaFold

P15948

Predicted Effect

possibly damaging
Transcript: ENSMUST00000077528
AA Change: I15F

PolyPhen 2 Score 0.756 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000076733
Gene: ENSMUSG00000060177
AA Change: I15F

Domain	Start	End	E-Value	Type
signal peptide	1	17	N/A	INTRINSIC
Tryp_SPc	24	251	2.91e-94	SMART

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.1%

Validation Efficiency

MGI Phenotype

FUNCTION: This gene encodes the beta 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. The encoded preproprotein undergoes proteolytic processing to generate a functional, mature peptide. 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: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcg1	C	T	17: 31,317,269 (GRCm39)	R194*	probably null	Het
Actl6a	A	G	3: 32,766,262 (GRCm39)	T39A	possibly damaging	Het
Adamts6	T	A	13: 104,550,257 (GRCm39)	C624*	probably null	Het
Adgrl1	T	C	8: 84,664,564 (GRCm39)		probably null	Het
Ap3m2	A	G	8: 23,289,674 (GRCm39)	V143A	probably benign	Het
Ap5m1	T	C	14: 49,311,218 (GRCm39)	V96A	probably damaging	Het
Aqp5	T	A	15: 99,489,424 (GRCm39)	V91E	probably damaging	Het
Atp6v0b	A	T	4: 117,742,350 (GRCm39)	I181N	probably damaging	Het
Ccp110	T	A	7: 118,322,241 (GRCm39)	M632K	probably benign	Het
Cd44	A	T	2: 102,672,604 (GRCm39)		probably null	Het
Cidea	G	A	18: 67,491,854 (GRCm39)	R38Q	probably damaging	Het
Cnn3	T	C	3: 121,245,042 (GRCm39)	I86T	probably benign	Het
Col14a1	C	A	15: 55,252,016 (GRCm39)	D557E	unknown	Het
Col6a6	T	C	9: 105,566,760 (GRCm39)	Y2245C	probably damaging	Het
Dhrs4	A	T	14: 55,725,092 (GRCm39)	N196Y	probably damaging	Het
Dnah8	T	C	17: 31,093,901 (GRCm39)	V4665A	possibly damaging	Het
Dpep2	T	C	8: 106,716,113 (GRCm39)	T267A		Het
Dtx3l	T	A	16: 35,759,120 (GRCm39)	Q43L	probably benign	Het
Ednrb	A	G	14: 104,080,738 (GRCm39)	S59P	probably benign	Het
Eml4	A	G	17: 83,758,126 (GRCm39)	T435A	probably benign	Het
Fam135b	A	T	15: 71,333,925 (GRCm39)	F1090I	probably benign	Het
Filip1	A	G	9: 79,726,225 (GRCm39)	V798A	probably benign	Het
Fnip1	T	G	11: 54,356,228 (GRCm39)		probably benign	Het
Gabrb2	C	T	11: 42,378,050 (GRCm39)	Q89*	probably null	Het
Gtf2ird1	A	T	5: 134,392,063 (GRCm39)	V882E	probably benign	Het
Gucy1a2	T	A	9: 3,532,804 (GRCm39)	M1K	probably null	Het
Ift70b	A	G	2: 75,766,963 (GRCm39)	S597P	possibly damaging	Het
Igkv10-96	T	A	6: 68,609,025 (GRCm39)	D90V	possibly damaging	Het
Igkv4-54	G	A	6: 69,608,740 (GRCm39)	R60C	probably benign	Het
Igkv7-33	G	T	6: 70,035,847 (GRCm39)	A45D	probably damaging	Het
Lamp3	T	A	16: 19,518,490 (GRCm39)	D249V	probably benign	Het
Lrrfip2	T	C	9: 111,022,149 (GRCm39)	V125A	possibly damaging	Het
Mprip	G	A	11: 59,643,756 (GRCm39)	R638H	possibly damaging	Het
Muc5ac	A	G	7: 141,349,589 (GRCm39)	M501V	probably benign	Het
Myo5a	C	T	9: 75,111,034 (GRCm39)	P1509S	probably damaging	Het
Ngdn	A	G	14: 55,258,554 (GRCm39)	Y63C	probably damaging	Het
Oit3	A	G	10: 59,259,852 (GRCm39)	V517A	probably benign	Het
Or8g21	A	T	9: 38,906,027 (GRCm39)	S235T	not run	Het
Pcdhb18	T	A	18: 37,623,512 (GRCm39)	F281I	probably damaging	Het
Pkd1	C	A	17: 24,809,881 (GRCm39)	Q3520K	probably benign	Het
Plxnb1	T	A	9: 108,929,525 (GRCm39)	I127N	probably damaging	Het
Ppfia2	A	T	10: 106,655,390 (GRCm39)	N319I	probably damaging	Het
Pxn	T	C	5: 115,686,665 (GRCm39)	S386P	possibly damaging	Het
Ralgps2	C	T	1: 156,714,738 (GRCm39)	V104I	probably benign	Het
Rp1	C	T	1: 4,417,924 (GRCm39)	V1063I	probably benign	Het
Slc10a5	A	T	3: 10,399,532 (GRCm39)	F376Y	probably damaging	Het
Snd1	T	A	6: 28,527,724 (GRCm39)	I277N	probably damaging	Het
Spc25	A	G	2: 69,036,406 (GRCm39)		probably null	Het
Tex29	A	G	8: 11,894,055 (GRCm39)	N6D	unknown	Het
Top6bl	T	A	19: 4,748,514 (GRCm39)	R61S	unknown	Het
Ttc6	G	A	12: 57,721,435 (GRCm39)	A975T	probably damaging	Het
Uba6	T	C	5: 86,320,560 (GRCm39)	E13G	probably damaging	Het
Ugcg	T	G	4: 59,211,927 (GRCm39)	C98G	possibly damaging	Het
Ugt2b36	T	A	5: 87,240,190 (GRCm39)	D65V	probably damaging	Het
Unc93b1	A	T	19: 3,985,243 (GRCm39)	D17V	not run	Het
Usf1	G	T	1: 171,245,462 (GRCm39)	W291C	unknown	Het
Vps29	T	C	5: 122,500,180 (GRCm39)	W97R	possibly damaging	Het
Zbtb6	T	C	2: 37,319,577 (GRCm39)	E117G	probably damaging	Het
Zfp735	A	C	11: 73,601,629 (GRCm39)	D191A	probably benign	Het

Other mutations in Klk1b22

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01516:Klk1b22	APN	7	43,765,732 (GRCm39)	missense	probably damaging	1.00
IGL02189:Klk1b22	APN	7	43,765,630 (GRCm39)	splice site	probably null
R1117:Klk1b22	UTSW	7	43,766,283 (GRCm39)	missense	probably benign	0.00
R1480:Klk1b22	UTSW	7	43,766,278 (GRCm39)	missense	possibly damaging	0.51
R1581:Klk1b22	UTSW	7	43,765,399 (GRCm39)	missense	possibly damaging	0.72
R1793:Klk1b22	UTSW	7	43,765,775 (GRCm39)	splice site	probably benign
R2935:Klk1b22	UTSW	7	43,764,146 (GRCm39)	missense	probably benign	0.22
R5806:Klk1b22	UTSW	7	43,765,301 (GRCm39)	missense	possibly damaging	0.90
R7278:Klk1b22	UTSW	7	43,764,173 (GRCm39)	missense	probably benign	0.01
R7443:Klk1b22	UTSW	7	43,765,534 (GRCm39)	missense	probably benign
R7646:Klk1b22	UTSW	7	43,765,542 (GRCm39)	splice site	probably null
R8499:Klk1b22	UTSW	7	43,762,144 (GRCm39)	missense	probably benign	0.42
R8829:Klk1b22	UTSW	7	43,764,277 (GRCm39)	missense	probably benign
R8832:Klk1b22	UTSW	7	43,764,277 (GRCm39)	missense	probably benign
R9113:Klk1b22	UTSW	7	43,765,692 (GRCm39)	missense	possibly damaging	0.81
R9756:Klk1b22	UTSW	7	43,765,254 (GRCm39)	critical splice acceptor site	probably null

Predicted Primers

PCR Primer
(F):5'- ACATCAGGTGCAACAGGACC -3'
(R):5'- TCTTTCCTGGGAGCAAGGAC -3'

Sequencing Primer
(F):5'- TAAGTGCAGGGAATCCACCTCTG -3'
(R):5'- ACTGTGAAGGTCCGATCACTG -3'

Posted On

2019-12-20