Mutagenetix > Incidental Mutation

Incidental Mutation 'R7172:Klk1b11'

558344

Institutional Source

Beutler Lab

Gene Symbol

Klk1b11

Ensembl Gene

ENSMUSG00000044485

Gene Name

kallikrein 1-related peptidase b11

Synonyms

mGK-11, Klk11

MMRRC Submission

045264-MU

Accession Numbers

Essential gene?

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

Stock #

R7172 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

43645301-43649299 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 43648671 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Valine at position 194 (D194V)

Ref Sequence

ENSEMBL: ENSMUSP00000007156 (fasta)

Gene Model

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

AlphaFold

P15946

Predicted Effect

possibly damaging
Transcript: ENSMUST00000007156
AA Change: D194V

PolyPhen 2 Score 0.919 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000007156
Gene: ENSMUSG00000044485
AA Change: D194V

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

Coding Region Coverage

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

Validation Efficiency

100% (74/74)

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: 75 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
AA467197	A	T	2: 122,480,238 (GRCm39)	Y33F	probably damaging	Het
Abca4	C	T	3: 121,897,189 (GRCm39)	Q623*	probably null	Het
Abcb1a	A	T	5: 8,752,399 (GRCm39)	I457F	probably benign	Het
Abcb9	G	A	5: 124,200,869 (GRCm39)	Q716*	probably null	Het
Abhd15	T	C	11: 77,406,122 (GRCm39)	V33A	probably benign	Het
Abl2	A	G	1: 156,450,157 (GRCm39)	D108G	probably damaging	Het
Adamts3	G	A	5: 90,030,860 (GRCm39)		probably benign	Het
Atmin	G	T	8: 117,683,281 (GRCm39)	V314L	probably damaging	Het
Axl	G	T	7: 25,486,399 (GRCm39)	Q102K	probably benign	Het
Cdhr5	A	G	7: 140,851,841 (GRCm39)	S488P	possibly damaging	Het
Cnn1	C	A	9: 22,016,790 (GRCm39)	A126D	probably damaging	Het
Col25a1	A	T	3: 130,363,981 (GRCm39)	K537*	probably null	Het
Cxcl2	A	G	5: 91,051,879 (GRCm39)	T26A	probably benign	Het
Dcc	T	C	18: 71,511,755 (GRCm39)	T887A	probably benign	Het
Dhx36	T	C	3: 62,408,436 (GRCm39)	D134G	probably benign	Het
Dnah17	T	A	11: 117,931,957 (GRCm39)	K3672*	probably null	Het
Fadd	G	T	7: 144,135,908 (GRCm39)	H73Q	probably benign	Het
Fancm	A	G	12: 65,152,828 (GRCm39)	N1095D	possibly damaging	Het
Fhod3	T	C	18: 25,218,603 (GRCm39)	S789P	probably damaging	Het
Glis2	G	A	16: 4,431,339 (GRCm39)	V289I	probably benign	Het
Gm17728	A	C	17: 9,641,220 (GRCm39)	D110A	probably damaging	Het
Gm9602	T	A	14: 15,933,429 (GRCm39)	S45T	possibly damaging	Het
Gpr137	A	G	19: 6,917,049 (GRCm39)	S161P	possibly damaging	Het
Gpr89	C	T	3: 96,787,385 (GRCm39)		probably null	Het
Gps2	C	T	11: 69,807,262 (GRCm39)	T306I	probably benign	Het
Hmcn1	A	G	1: 150,629,450 (GRCm39)	Y936H	possibly damaging	Het
Hoxa5	A	G	6: 52,181,276 (GRCm39)	Y19H	probably damaging	Het
Ifit2	G	T	19: 34,550,894 (GRCm39)	A145S	probably benign	Het
Impdh2	G	T	9: 108,437,809 (GRCm39)	C26F	probably benign	Het
Kcnh6	T	C	11: 105,911,100 (GRCm39)	Y552H	possibly damaging	Het
Kcnma1	A	T	14: 23,576,691 (GRCm39)	M254K	probably damaging	Het
Klhdc9	A	T	1: 171,188,228 (GRCm39)	M1K	probably null	Het
Lama1	A	G	17: 68,111,540 (GRCm39)	I2264V		Het
Lmntd2	A	G	7: 140,793,554 (GRCm39)	S111P	unknown	Het
Megf8	T	C	7: 25,043,092 (GRCm39)	L1338P	probably damaging	Het
Mipol1	G	A	12: 57,372,321 (GRCm39)	E127K	possibly damaging	Het
Mmp25	A	T	17: 23,863,762 (GRCm39)	C23S	probably benign	Het
Mup8	A	T	4: 60,222,425 (GRCm39)	C15*	probably null	Het
Myh2	A	T	11: 67,079,527 (GRCm39)	T995S	probably benign	Het
Myo1d	C	T	11: 80,483,621 (GRCm39)	V863I	probably benign	Het
N4bp1	A	G	8: 87,587,052 (GRCm39)		probably null	Het
Nat10	G	T	2: 103,563,314 (GRCm39)	P562T	probably damaging	Het
Nedd9	C	G	13: 41,470,280 (GRCm39)	R291P	probably benign	Het
Nlrc3	G	T	16: 3,781,617 (GRCm39)	H613Q	probably benign	Het
Ntn1	A	T	11: 68,276,493 (GRCm39)	C152S	probably damaging	Het
Or2av9	T	A	11: 58,380,571 (GRCm39)	I337F	unknown	Het
Pam	A	T	1: 97,762,203 (GRCm39)	D793E	probably benign	Het
Patz1	T	G	11: 3,258,032 (GRCm39)	V631G	probably benign	Het
Pcdh15	G	A	10: 74,338,597 (GRCm39)	V1068M	probably damaging	Het
Pramel17	A	G	4: 101,694,193 (GRCm39)	V230A	probably benign	Het
Prmt5	A	G	14: 54,752,343 (GRCm39)	F151S	possibly damaging	Het
Pygo2	G	A	3: 89,339,943 (GRCm39)	V114I	probably benign	Het
Rabgap1l	A	T	1: 160,561,156 (GRCm39)	S220R	probably benign	Het
Rdh7	T	G	10: 127,724,218 (GRCm39)	S89R	possibly damaging	Het
Rgsl1	A	C	1: 153,701,966 (GRCm39)	W163G	possibly damaging	Het
Ryr3	T	A	2: 112,492,002 (GRCm39)	N3783I	probably damaging	Het
Shld2	G	A	14: 33,959,525 (GRCm39)	T819I	probably damaging	Het
Slit1	A	G	19: 41,623,105 (GRCm39)	L644P	probably damaging	Het
Steap2	A	G	5: 5,732,896 (GRCm39)	S43P	possibly damaging	Het
Susd1	A	T	4: 59,315,420 (GRCm39)		probably null	Het
Tbc1d9	A	G	8: 83,981,390 (GRCm39)	M686V	probably damaging	Het
Tdrp	G	A	8: 14,024,579 (GRCm39)	R22*	probably null	Het
Tmem245	A	G	4: 56,903,946 (GRCm39)	V598A	possibly damaging	Het
Tnxb	A	G	17: 34,914,994 (GRCm39)	E1994G	probably damaging	Het
Trcg1	T	A	9: 57,155,618 (GRCm39)	V757E	probably benign	Het
Trim10	A	G	17: 37,180,955 (GRCm39)	E62G	possibly damaging	Het
Ushbp1	G	T	8: 71,841,410 (GRCm39)	A473E	possibly damaging	Het
Vmn1r50	A	C	6: 90,084,386 (GRCm39)	K44Q	possibly damaging	Het
Wdr75	A	G	1: 45,838,294 (GRCm39)	N68D	probably damaging	Het
Wdr83	A	G	8: 85,806,453 (GRCm39)	V115A	probably damaging	Het
Zdhhc17	A	G	10: 110,845,809 (GRCm39)	L28P	possibly damaging	Het
Zfp738	C	T	13: 67,818,527 (GRCm39)	C488Y	probably damaging	Het
Zfp987	T	G	4: 146,058,572 (GRCm39)	L50W	probably damaging	Het
Zfyve28	G	T	5: 34,391,753 (GRCm39)	R133S	probably benign	Het
Zscan20	G	T	4: 128,479,469 (GRCm39)	C1007*	probably null	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
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
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'- AGCACATGCCTAGTCTCAGG -3'
(R):5'- TGCATCCCTTCCATAGAGAAGG -3'

Sequencing Primer
(F):5'- CGAAATGTGAGTCTTCTCCAAGC -3'
(R):5'- TCCCTTCCATAGAGAAGGATGCAAAG -3'

Posted On

2019-06-26