Mutagenetix > Incidental Mutation

Incidental Mutation 'R6834:Klk1b11'

534507

Institutional Source

Beutler Lab

Gene Symbol

Klk1b11

Ensembl Gene

ENSMUSG00000044485

Gene Name

kallikrein 1-related peptidase b11

Synonyms

mGK-11, Klk11

MMRRC Submission

044943-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.072) question?

Stock #

R6834 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

43645301-43649299 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 43428336 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 242 (I242T)

Ref Sequence

ENSEMBL: ENSMUSP00000132721 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000014058] [ENSMUST00000080211] [ENSMUST00000171458]

AlphaFold

P15946

Predicted Effect

probably benign
Transcript: ENSMUST00000014058

SMART Domains

Protein: ENSMUSP00000014058
Gene: ENSMUSG00000030693

Domain	Start	End	E-Value	Type
signal peptide	1	32	N/A	INTRINSIC
Tryp_SPc	46	271	1.35e-71	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000080211
AA Change: I269T

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000079101
Gene: ENSMUSG00000067616
AA Change: I269T

Domain	Start	End	E-Value	Type
low complexity region	22	37	N/A	INTRINSIC
Tryp_SPc	47	269	5.14e-95	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000171458
AA Change: I242T

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000132721
Gene: ENSMUSG00000067616
AA Change: I242T

Domain	Start	End	E-Value	Type
signal peptide	1	17	N/A	INTRINSIC
Tryp_SPc	20	242	5.14e-95	SMART

Meta Mutation Damage Score

0.8960

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.5%
20x: 98.4%

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: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca13	T	A	11: 9,225,110 (GRCm39)	W530R	possibly damaging	Het
Aco1	A	G	4: 40,164,747 (GRCm39)	K79R	probably benign	Het
Adam15	C	T	3: 89,247,390 (GRCm39)	G426R	probably damaging	Het
Angptl1	A	T	1: 156,672,263 (GRCm39)	I30L	probably benign	Het
Ankrd35	A	G	3: 96,590,599 (GRCm39)	E295G	possibly damaging	Het
Ap5m1	T	A	14: 49,311,194 (GRCm39)	V88E	probably damaging	Het
Astn1	A	T	1: 158,491,692 (GRCm39)	Q47L	probably benign	Het
Atf6b	T	C	17: 34,868,131 (GRCm39)	S135P	probably damaging	Het
AU018091	T	A	7: 3,207,795 (GRCm39)	I589F	probably benign	Het
Cdin1	T	C	2: 115,505,265 (GRCm39)	S179P	probably benign	Het
Cenpf	T	C	1: 189,391,643 (GRCm39)	K730E	probably damaging	Het
Chrna6	C	T	8: 27,898,338 (GRCm39)		probably null	Het
Dmxl1	A	T	18: 50,088,890 (GRCm39)	I2790F	probably damaging	Het
Ell	A	G	8: 71,031,784 (GRCm39)	D116G	probably damaging	Het
Eml5	A	T	12: 98,853,283 (GRCm39)	H105Q	probably damaging	Het
Epb41l2	T	A	10: 25,369,502 (GRCm39)	V23D	possibly damaging	Het
Gatad2b	T	A	3: 90,255,950 (GRCm39)	S139T	probably benign	Het
Glb1l	A	G	1: 75,178,397 (GRCm39)	V347A	possibly damaging	Het
Gm4846	A	T	1: 166,322,147 (GRCm39)	I140N	possibly damaging	Het
Gng11	A	G	6: 4,008,068 (GRCm39)	I44V	probably benign	Het
Hsd17b8	T	C	17: 34,246,191 (GRCm39)	S161G	probably damaging	Het
Hsp90ab1	T	C	17: 45,881,393 (GRCm39)	I250V	probably benign	Het
Igkv4-79	A	G	6: 69,020,256 (GRCm39)	S20P	probably damaging	Het
Il11ra1	A	G	4: 41,765,454 (GRCm39)	H183R	probably benign	Het
Kcnip3	A	T	2: 127,300,278 (GRCm39)	F252I	probably damaging	Het
Klk12	T	C	7: 43,422,772 (GRCm39)	V233A	possibly damaging	Het
Lama3	G	A	18: 12,624,605 (GRCm39)	C1450Y	probably damaging	Het
Lmod2	A	T	6: 24,597,782 (GRCm39)		probably benign	Het
Loxhd1	T	A	18: 77,529,222 (GRCm39)	V1089E	probably damaging	Het
Lrba	C	T	3: 86,257,593 (GRCm39)	P1286S	probably benign	Het
Lrrc41	T	C	4: 115,953,726 (GRCm39)	V804A	possibly damaging	Het
Lrrc8a	T	A	2: 30,145,659 (GRCm39)	S158T	possibly damaging	Het
Mcm3	A	T	1: 20,880,320 (GRCm39)	M504K	possibly damaging	Het
Med24	A	T	11: 98,595,850 (GRCm39)		probably null	Het
Mrgprx1	T	C	7: 47,671,385 (GRCm39)	S121G	probably damaging	Het
Mvb12a	G	A	8: 71,997,896 (GRCm39)	M103I	probably benign	Het
Or4k15c	A	G	14: 50,321,685 (GRCm39)	V151A	probably damaging	Het
Or4k2	T	C	14: 50,423,940 (GRCm39)	I245V	probably benign	Het
Otx1	C	A	11: 21,947,037 (GRCm39)	A91S	probably damaging	Het
Pacsin3	T	A	2: 91,093,180 (GRCm39)	M224K	probably damaging	Het
Pam	T	A	1: 97,765,717 (GRCm39)	I771F	probably damaging	Het
Pamr1	C	T	2: 102,445,276 (GRCm39)	R270C	probably damaging	Het
Pcdhgb8	G	T	18: 37,895,142 (GRCm39)	A71S	probably benign	Het
Poc1b	C	T	10: 99,028,666 (GRCm39)	A336V	probably benign	Het
Prss39	G	T	1: 34,537,697 (GRCm39)	V54F	possibly damaging	Het
Ptar1	A	G	19: 23,695,288 (GRCm39)	T252A	probably benign	Het
Ptprz1	A	G	6: 22,999,632 (GRCm39)	D574G	probably benign	Het
Rnf40	G	A	7: 127,195,578 (GRCm39)	D635N	probably benign	Het
Scn1a	T	A	2: 66,158,086 (GRCm39)	Q429L	probably damaging	Het
Sf1	G	T	19: 6,424,127 (GRCm39)	G386C	probably damaging	Het
Shank2	A	T	7: 143,963,631 (GRCm39)	Y623F	probably damaging	Het
Slc9a5	G	T	8: 106,091,316 (GRCm39)	A699S	probably benign	Het
Sox9	A	T	11: 112,674,826 (GRCm39)	Q208L	probably benign	Het
Synpo2l	A	T	14: 20,710,702 (GRCm39)	D865E	probably damaging	Het
Szt2	A	G	4: 118,245,522 (GRCm39)	S1097P	probably benign	Het
Tmc1	C	A	19: 20,772,974 (GRCm39)	E676*	probably null	Het
Ubr3	T	C	2: 69,830,825 (GRCm39)	I158T	possibly damaging	Het
Ush2a	T	C	1: 188,088,989 (GRCm39)	Y315H	probably damaging	Het
Vmn1r85	T	C	7: 12,818,571 (GRCm39)	D191G	probably damaging	Het
Vmn2r-ps158	G	C	7: 42,673,004 (GRCm39)	A143P	probably damaging	Het
Zfp358	A	G	8: 3,545,613 (GRCm39)	D92G	probably benign	Het
Zfp735	G	A	11: 73,601,434 (GRCm39)	G126D	probably damaging	Het
Zpld2	A	C	4: 133,920,476 (GRCm39)	V563G	possibly damaging	Het

Other mutations in Klk1b11

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00565:Klk1b11	APN	7	43,649,243 (GRCm39)	missense	probably damaging	1.00
IGL01501:Klk1b11	APN	7	43,649,258 (GRCm39)	utr 3 prime	probably benign
IGL02054:Klk1b11	APN	7	43,648,251 (GRCm39)	missense	possibly damaging	0.90
IGL02267:Klk1b11	APN	7	43,649,165 (GRCm39)	missense	probably damaging	1.00
IGL02900:Klk1b11	APN	7	43,427,837 (GRCm39)	missense	probably damaging	0.97
IGL03090:Klk1b11	APN	7	43,426,977 (GRCm39)	missense	probably benign	0.00
aceto	UTSW	7	43,424,198 (GRCm39)	missense	probably benign	0.18
sotto	UTSW	7	43,428,336 (GRCm39)	missense	probably damaging	0.99
R0125:Klk1b11	UTSW	7	43,648,475 (GRCm39)	missense	probably benign	0.10
R0326:Klk1b11	UTSW	7	43,425,943 (GRCm39)	start codon destroyed	probably null	0.01
R0449:Klk1b11	UTSW	7	43,647,216 (GRCm39)	missense	probably damaging	1.00
R0708:Klk1b11	UTSW	7	43,647,152 (GRCm39)	missense	possibly damaging	0.59
R1370:Klk1b11	UTSW	7	43,426,331 (GRCm39)	missense	probably benign	0.03
R1503:Klk1b11	UTSW	7	43,428,333 (GRCm39)	nonsense	probably null
R1812:Klk1b11	UTSW	7	43,427,179 (GRCm39)	critical splice donor site	probably null
R3003:Klk1b11	UTSW	7	43,426,419 (GRCm39)	missense	probably damaging	0.99
R4361:Klk1b11	UTSW	7	43,645,378 (GRCm39)	splice site	probably null
R4452:Klk1b11	UTSW	7	43,645,335 (GRCm39)	missense	probably damaging	0.96
R4974:Klk1b11	UTSW	7	43,427,160 (GRCm39)	missense	probably damaging	0.98
R5120:Klk1b11	UTSW	7	43,648,446 (GRCm39)	missense	probably benign	0.29
R5214:Klk1b11	UTSW	7	43,647,266 (GRCm39)	missense	probably benign	0.02
R5219:Klk1b11	UTSW	7	43,649,120 (GRCm39)	missense	probably damaging	1.00
R5654:Klk1b11	UTSW	7	43,427,810 (GRCm39)	missense	probably damaging	1.00
R5730:Klk1b11	UTSW	7	43,424,199 (GRCm39)	missense	probably benign	0.33
R6348:Klk1b11	UTSW	7	43,647,275 (GRCm39)	critical splice donor site	probably null
R6602:Klk1b11	UTSW	7	43,424,198 (GRCm39)	missense	probably benign	0.18
R6803:Klk1b11	UTSW	7	43,647,261 (GRCm39)	missense	probably damaging	1.00
R7065:Klk1b11	UTSW	7	43,648,386 (GRCm39)	missense	probably benign	0.22
R7172:Klk1b11	UTSW	7	43,648,671 (GRCm39)	missense	possibly damaging	0.92
R7310:Klk1b11	UTSW	7	43,428,254 (GRCm39)	missense	probably damaging	0.99
R7741:Klk1b11	UTSW	7	43,426,421 (GRCm39)	missense	probably benign	0.03
R8185:Klk1b11	UTSW	7	43,426,332 (GRCm39)	missense	probably damaging	1.00
R8336:Klk1b11	UTSW	7	43,425,865 (GRCm39)	start gained	probably benign
R8389:Klk1b11	UTSW	7	43,649,120 (GRCm39)	missense	probably damaging	1.00
R8798:Klk1b11	UTSW	7	43,645,372 (GRCm39)	missense	probably benign	0.00
R9090:Klk1b11	UTSW	7	43,425,954 (GRCm39)	missense	probably benign	0.00
R9104:Klk1b11	UTSW	7	43,427,875 (GRCm39)	unclassified	probably benign
R9144:Klk1b11	UTSW	7	43,427,055 (GRCm39)	missense	probably damaging	0.96
R9213:Klk1b11	UTSW	7	43,648,428 (GRCm39)	missense	possibly damaging	0.84
R9271:Klk1b11	UTSW	7	43,425,954 (GRCm39)	missense	probably benign	0.00
R9604:Klk1b11	UTSW	7	43,427,850 (GRCm39)	missense
Z1177:Klk1b11	UTSW	7	43,427,759 (GRCm39)	missense	possibly damaging	0.58

Predicted Primers

PCR Primer
(F):5'- ACCCATGAAGAACCTCTGGG -3'
(R):5'- ATTTGATTCCAGGCCCCAGG -3'

Sequencing Primer
(F):5'- ATGAAGAACCTCTGGGCCCTG -3'
(R):5'- GGTCGATCATCAAGTTAGAGCATCC -3'

Posted On

2018-09-12