Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02379:Klk1b5'

291281

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Klk1b5

Ensembl Gene

ENSMUSG00000066512

Gene Name

kallikrein 1-related peptidase b5

Synonyms

mGK-5, Klk5

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.056) question?

Stock #

IGL02379

Quality Score

Status

Chromosome

Chromosomal Location

43865898-43870127 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 43500246 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Serine at position 278 (N278S)

Ref Sequence

ENSEMBL: ENSMUSP00000049339 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000048444]

AlphaFold

P15945

Predicted Effect

probably damaging
Transcript: ENSMUST00000048444
AA Change: N278S

PolyPhen 2 Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000049339
Gene: ENSMUSG00000074155
AA Change: N278S

Domain	Start	End	E-Value	Type
signal peptide	1	29	N/A	INTRINSIC
Tryp_SPc	67	286	9.24e-88	SMART

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: This gene encodes a member of the kallikrein subfamily of serine proteases that are involved in diverse physiological functions such as skin desquamation, tooth enamel formation, seminal liquefaction, synaptic neural plasticity and brain function. The encoded preproprotein undergoes proteolytic cleavage of the activation peptide to generate the functional enzyme. 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: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acad10	T	A	5: 121,760,106 (GRCm39)	I996F	probably damaging	Het
Adamts9	T	A	6: 92,774,014 (GRCm39)	D1133V	probably damaging	Het
Adi1	T	A	12: 28,729,466 (GRCm39)	D106E	probably damaging	Het
Agl	A	G	3: 116,572,740 (GRCm39)	F837S	probably damaging	Het
Alb	T	A	5: 90,613,738 (GRCm39)	D207E	probably benign	Het
Alms1	T	G	6: 85,606,615 (GRCm39)	V2286G	probably damaging	Het
Alpl	G	A	4: 137,469,869 (GRCm39)	A485V	probably damaging	Het
Antxrl	C	A	14: 33,778,492 (GRCm39)		probably null	Het
Apc	C	T	18: 34,431,798 (GRCm39)	T417I	probably benign	Het
Ash2l	T	C	8: 26,312,799 (GRCm39)	D390G	probably damaging	Het
Asph	G	A	4: 9,474,980 (GRCm39)	P582S	probably damaging	Het
Bcr	T	A	10: 74,992,980 (GRCm39)	L825Q	probably benign	Het
Bhlha15	T	A	5: 144,128,159 (GRCm39)	N90K	probably damaging	Het
Cgnl1	T	A	9: 71,552,835 (GRCm39)	Y1043F	possibly damaging	Het
Chek1	T	C	9: 36,635,242 (GRCm39)	D47G	probably benign	Het
Clca4b	T	A	3: 144,627,619 (GRCm39)	M451L	probably benign	Het
Csnk1g3	T	C	18: 54,066,564 (GRCm39)	S346P	probably benign	Het
Cspg4	G	T	9: 56,799,893 (GRCm39)		probably benign	Het
Ctr9	A	G	7: 110,650,726 (GRCm39)	K884E	probably damaging	Het
Cyld	T	A	8: 89,471,556 (GRCm39)	C813*	probably null	Het
Fn3k	A	T	11: 121,325,950 (GRCm39)	T46S	probably benign	Het
Foxred1	T	C	9: 35,121,282 (GRCm39)	R89G	probably benign	Het
Gpr174	T	C	X: 106,337,084 (GRCm39)	F299L	probably damaging	Het
Hdac7	T	C	15: 97,706,266 (GRCm39)	D312G	probably damaging	Het
Il36b	A	G	2: 24,044,650 (GRCm39)	S17G	probably benign	Het
Kcna5	G	T	6: 126,511,472 (GRCm39)	P219T	probably damaging	Het
Kcnh2	A	C	5: 24,531,636 (GRCm39)	V425G	probably damaging	Het
Mars2	T	A	1: 55,277,212 (GRCm39)	W272R	probably damaging	Het
Msl3l2	C	A	10: 55,992,017 (GRCm39)	S247R	possibly damaging	Het
Myh7	T	C	14: 55,216,925 (GRCm39)	E1144G	probably damaging	Het
Nefm	T	C	14: 68,357,688 (GRCm39)		probably benign	Het
Nwd2	A	G	5: 63,962,644 (GRCm39)	K743E	probably damaging	Het
Nyap2	C	T	1: 81,065,147 (GRCm39)	T53I	probably damaging	Het
Odad4	A	T	11: 100,457,809 (GRCm39)	N471Y	possibly damaging	Het
Or10ag58	T	C	2: 87,265,668 (GRCm39)	V279A	probably benign	Het
Or52z12	T	C	7: 103,234,099 (GRCm39)	V290A	possibly damaging	Het
Peli2	A	G	14: 48,405,755 (GRCm39)	H60R	probably damaging	Het
Pias2	T	A	18: 77,232,844 (GRCm39)		probably benign	Het
Pik3c2b	A	G	1: 133,022,529 (GRCm39)	D1157G	probably damaging	Het
Pip4k2a	C	T	2: 18,870,922 (GRCm39)		probably null	Het
Raf1	A	T	6: 115,621,509 (GRCm39)	D23E	probably benign	Het
Rhox10	G	A	X: 37,155,733 (GRCm39)	R87H	probably benign	Het
Rpgrip1	A	G	14: 52,376,345 (GRCm39)	T449A	possibly damaging	Het
Serpina3a	T	A	12: 104,084,919 (GRCm39)	S105T	probably benign	Het
Slc12a9	T	G	5: 137,319,691 (GRCm39)	Q608P	probably damaging	Het
Smg6	C	A	11: 74,944,751 (GRCm39)	P167T	probably damaging	Het
Spata7	C	T	12: 98,600,519 (GRCm39)	T44I	probably damaging	Het
Spink12	C	T	18: 44,239,575 (GRCm39)		probably benign	Het
Srrm1	G	A	4: 135,052,415 (GRCm39)	P658L	unknown	Het
Stag2	C	T	X: 41,339,474 (GRCm39)	T754I	probably benign	Het
Supt6	C	T	11: 78,116,195 (GRCm39)	V723M	possibly damaging	Het
Ubr3	A	G	2: 69,778,832 (GRCm39)	D614G	possibly damaging	Het
Vps39	T	A	2: 120,154,089 (GRCm39)	K624N	probably benign	Het
Vwa5b1	A	T	4: 138,340,170 (GRCm39)	L29Q	probably damaging	Het
Wtap	G	A	17: 13,188,336 (GRCm39)	A188V	probably benign	Het
Zc3hc1	A	G	6: 30,390,974 (GRCm39)	F5L	probably benign	Het
Zfp655	C	T	5: 145,180,765 (GRCm39)	P208S	probably benign	Het
Zswim3	A	T	2: 164,662,602 (GRCm39)		probably null	Het

Other mutations in Klk1b5

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00392:Klk1b5	APN	7	43,865,928 (GRCm39)	missense	probably benign	0.00
R0515:Klk1b5	UTSW	7	43,867,957 (GRCm39)	missense	probably damaging	1.00
R0706:Klk1b5	UTSW	7	43,867,938 (GRCm39)	missense	probably damaging	1.00
R1209:Klk1b5	UTSW	7	43,496,422 (GRCm39)	missense	probably damaging	0.99
R1227:Klk1b5	UTSW	7	43,496,670 (GRCm39)	splice site	probably null
R1261:Klk1b5	UTSW	7	43,494,714 (GRCm39)	missense	probably damaging	0.98
R1689:Klk1b5	UTSW	7	43,869,969 (GRCm39)	missense	probably damaging	0.98
R1845:Klk1b5	UTSW	7	43,869,549 (GRCm39)	missense	probably benign
R2153:Klk1b5	UTSW	7	43,869,322 (GRCm39)	critical splice donor site	probably null
R3700:Klk1b5	UTSW	7	43,500,251 (GRCm39)	missense	probably damaging	1.00
R4612:Klk1b5	UTSW	7	43,494,696 (GRCm39)	missense	possibly damaging	0.66
R4825:Klk1b5	UTSW	7	43,494,814 (GRCm39)	missense	probably damaging	1.00
R7456:Klk1b5	UTSW	7	43,500,255 (GRCm39)	missense	probably benign	0.02
R7556:Klk1b5	UTSW	7	43,496,649 (GRCm39)	missense	probably damaging	0.99
R8264:Klk1b5	UTSW	7	43,869,454 (GRCm39)	missense	probably damaging	1.00
R8402:Klk1b5	UTSW	7	43,867,962 (GRCm39)	missense	probably benign	0.01
R8475:Klk1b5	UTSW	7	43,500,204 (GRCm39)	missense	possibly damaging	0.64
R8711:Klk1b5	UTSW	7	43,867,996 (GRCm39)	missense	probably benign	0.02
R8813:Klk1b5	UTSW	7	43,496,549 (GRCm39)	missense	probably benign	0.08
R8886:Klk1b5	UTSW	7	43,869,192 (GRCm39)	missense	probably damaging	1.00
R9101:Klk1b5	UTSW	7	43,500,205 (GRCm39)	missense	probably benign	0.44
RF024:Klk1b5	UTSW	7	43,491,798 (GRCm39)	missense	possibly damaging	0.90

Posted On

2015-04-16