Mutagenetix > Incidental Mutation

Incidental Mutation 'R5214:Klk1b11'

403342

Institutional Source

Beutler Lab

Gene Symbol

Klk1b11

Ensembl Gene

ENSMUSG00000044485

Gene Name

kallikrein 1-related peptidase b11

Synonyms

mGK-11, Klk11

MMRRC Submission

042787-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.067) question?

Stock #

R5214 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

43645301-43649299 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 43647266 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Asparagine at position 67 (H67N)

Ref Sequence

ENSEMBL: ENSMUSP00000007156 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000007156]

AlphaFold

P15946

Predicted Effect

probably benign
Transcript: ENSMUST00000007156
AA Change: H67N

PolyPhen 2 Score 0.024 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000007156
Gene: ENSMUSG00000044485
AA Change: H67N

Domain	Start	End	E-Value	Type
signal peptide	1	17	N/A	INTRINSIC
Tryp_SPc	24	253	6.47e-101	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000205597

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000206787

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.5%
20x: 95.9%

Validation Efficiency

100% (77/77)

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: 69 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700061I17Rik	A	G	3: 116,861,424 (GRCm39)		noncoding transcript	Het
4930449A18Rik	A	T	3: 59,733,305 (GRCm39)		noncoding transcript	Het
Acsbg3	T	C	17: 57,193,493 (GRCm39)	V613A	probably benign	Het
Adgrl1	G	A	8: 84,642,202 (GRCm39)		probably null	Het
Aldh1l1	A	G	6: 90,540,399 (GRCm39)	D228G	probably damaging	Het
Ankrd17	T	C	5: 90,431,319 (GRCm39)	I822V	possibly damaging	Het
Atm	C	A	9: 53,402,327 (GRCm39)	A1382S	probably benign	Het
Bltp3a	G	A	17: 28,106,489 (GRCm39)	S1005N	probably benign	Het
Cacna1e	T	A	1: 154,577,110 (GRCm39)	I96F	possibly damaging	Het
Calhm5	A	G	10: 33,968,487 (GRCm39)	S189P	probably damaging	Het
Ccar1	G	A	10: 62,606,740 (GRCm39)	R335C	probably damaging	Het
Ccdc113	T	C	8: 96,272,601 (GRCm39)	I236T	possibly damaging	Het
Ccdc14	T	A	16: 34,525,225 (GRCm39)	S125T	probably benign	Het
Cdc45	C	T	16: 18,614,647 (GRCm39)	R205H	probably damaging	Het
Cdon	T	C	9: 35,394,504 (GRCm39)	C917R	probably damaging	Het
Ckap2l	T	C	2: 129,127,389 (GRCm39)	D263G	probably benign	Het
Cntnap3	G	T	13: 64,909,824 (GRCm39)	H760Q	probably damaging	Het
Dennd2d	G	A	3: 106,393,637 (GRCm39)		probably null	Het
Dock4	A	G	12: 40,754,465 (GRCm39)	I485V	probably benign	Het
Dspp	A	G	5: 104,326,364 (GRCm39)	D909G	unknown	Het
Eps8	A	T	6: 137,504,490 (GRCm39)	M81K	probably damaging	Het
Fras1	T	C	5: 96,917,452 (GRCm39)	S3491P	probably damaging	Het
Gm17669	C	T	18: 67,695,479 (GRCm39)	T8I	possibly damaging	Het
Gm5114	G	T	7: 39,057,792 (GRCm39)	T609K	probably benign	Het
Gm973	A	G	1: 59,565,880 (GRCm39)	N32S	probably damaging	Het
Herpud1	G	T	8: 95,117,479 (GRCm39)		probably null	Het
Jcad	T	A	18: 4,674,134 (GRCm39)	L632Q	probably damaging	Het
Kcnh8	T	C	17: 53,205,486 (GRCm39)	L527S	probably damaging	Het
Ldhb	T	A	6: 142,441,321 (GRCm39)	I190F	probably damaging	Het
Lrrc34	A	T	3: 30,690,397 (GRCm39)	C168*	probably null	Het
Lrtm1	C	T	14: 28,743,651 (GRCm39)	H40Y	possibly damaging	Het
Mageb3	T	C	2: 121,785,319 (GRCm39)	M128V	possibly damaging	Het
Miga2	A	G	2: 30,261,208 (GRCm39)	T90A	probably benign	Het
Msantd5	C	A	11: 51,125,675 (GRCm39)	H199Q	possibly damaging	Het
Ndrg1	G	A	15: 66,831,239 (GRCm39)	T24I	probably damaging	Het
Nos2	T	C	11: 78,846,267 (GRCm39)	L878P	probably damaging	Het
Or11g27	T	G	14: 50,771,804 (GRCm39)	*312E	probably null	Het
Pcdhgb1	T	A	18: 37,814,478 (GRCm39)	I323N	probably damaging	Het
Plec	A	G	15: 76,061,921 (GRCm39)	I2537T	probably damaging	Het
Pnpo	C	A	11: 96,833,295 (GRCm39)	E68D	probably benign	Het
Ppp6r1	C	T	7: 4,646,176 (GRCm39)	R175Q	probably benign	Het
Prnp	C	T	2: 131,778,924 (GRCm39)	T192I	probably damaging	Het
Ptprb	T	C	10: 116,205,229 (GRCm39)	I2148T	possibly damaging	Het
Raf1	G	T	6: 115,614,583 (GRCm39)	F99L	possibly damaging	Het
Rbks	A	G	5: 31,807,736 (GRCm39)		probably benign	Het
Rlf	T	C	4: 121,007,897 (GRCm39)	D361G	probably damaging	Het
Rnpepl1	G	T	1: 92,847,001 (GRCm39)	D608Y	probably benign	Het
Scaf1	G	A	7: 44,652,662 (GRCm39)		probably benign	Het
Sh3rf1	A	T	8: 61,825,765 (GRCm39)	M587L	probably damaging	Het
Slc22a21	A	T	11: 53,843,869 (GRCm39)	S473T	probably damaging	Het
Syt15	A	G	14: 33,943,703 (GRCm39)	D84G	possibly damaging	Het
Tbc1d19	T	C	5: 54,007,183 (GRCm39)	L236P	probably benign	Het
Tbx2	G	T	11: 85,729,263 (GRCm39)	A549S	probably benign	Het
Tc2n	A	T	12: 101,659,461 (GRCm39)	C157*	probably null	Het
Tecta	C	T	9: 42,256,964 (GRCm39)	V1571I	probably benign	Het
Them4	A	G	3: 94,224,818 (GRCm39)	K65R	probably benign	Het
Tmc5	C	T	7: 118,247,155 (GRCm39)	T553M	probably damaging	Het
Tmem200c	C	T	17: 69,148,122 (GRCm39)	A235V	probably damaging	Het
Tmem8b	G	A	4: 43,673,992 (GRCm39)	V208I	probably benign	Het
Tmf1	G	C	6: 97,144,253 (GRCm39)	A701G	possibly damaging	Het
Tomm70a	G	A	16: 56,942,300 (GRCm39)	G26S	unknown	Het
Treh	T	C	9: 44,594,173 (GRCm39)	Y140H	probably damaging	Het
Ttc28	A	G	5: 111,325,489 (GRCm39)		probably benign	Het
Uba7	T	C	9: 107,854,713 (GRCm39)		probably benign	Het
Ube4a	T	C	9: 44,860,166 (GRCm39)	I299V	probably benign	Het
Zfhx4	A	C	3: 5,468,701 (GRCm39)	K2953T	probably damaging	Het
Zfp280d	T	A	9: 72,215,395 (GRCm39)		probably benign	Het
Zscan20	G	A	4: 128,482,109 (GRCm39)	R518C	probably benign	Het
Zw10	T	C	9: 48,975,463 (GRCm39)	I296T	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
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
R6834:Klk1b11	UTSW	7	43,428,336 (GRCm39)	missense	probably damaging	0.99
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'- AGTGCTTAACTGTGTCCATCAAG -3'
(R):5'- AGGACTCTGAACAAAATCCTTGG -3'

Sequencing Primer
(F):5'- TAACTGTGTCCATCAAGGGTTGACC -3'
(R):5'- TCCTTGGAGGATGGAGTAAAGAG -3'

Posted On

2016-07-22