Mutagenetix > Incidental Mutation

Incidental Mutation 'R9271:Klk1b11'

702924

Institutional Source

Beutler Lab

Gene Symbol

Klk1b11

Ensembl Gene

ENSMUSG00000044485

Gene Name

kallikrein 1-related peptidase b11

Synonyms

mGK-11, Klk11

MMRRC Submission

Accession Numbers

Essential gene?

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

Stock #

R9271 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

43645301-43649299 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 43425954 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Phenylalanine at position 32 (L32F)

Ref Sequence

ENSEMBL: ENSMUSP00000079101 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000014058] [ENSMUST00000014063] [ENSMUST00000080211] [ENSMUST00000107970] [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 benign
Transcript: ENSMUST00000014063

SMART Domains

Protein: ENSMUSP00000014063
Gene: ENSMUSG00000044430

Domain	Start	End	E-Value	Type
signal peptide	1	17	N/A	INTRINSIC
Tryp_SPc	21	240	1.3e-91	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000080211
AA Change: L32F

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000079101
Gene: ENSMUSG00000067616
AA Change: L32F

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 benign
Transcript: ENSMUST00000107970

SMART Domains

Protein: ENSMUSP00000103604
Gene: ENSMUSG00000044430

Domain	Start	End	E-Value	Type
signal peptide	1	17	N/A	INTRINSIC
Tryp_SPc	21	240	1.3e-91	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000171458
AA Change: L5F

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000132721
Gene: ENSMUSG00000067616
AA Change: L5F

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

Coding Region Coverage

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

Validation Efficiency

100% (107/107)

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: 111 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aatk	A	T	11: 119,901,940 (GRCm39)	S819T	probably damaging	Het
Abca13	A	T	11: 9,241,698 (GRCm39)	D1187V	probably damaging	Het
Ak9	C	A	10: 41,300,623 (GRCm39)	T1611K	unknown	Het
Als2	G	T	1: 59,242,189 (GRCm39)	T622K	probably benign	Het
Ankrd40	G	A	11: 94,225,262 (GRCm39)	A98T	probably benign	Het
Ap1b1	T	C	11: 4,973,174 (GRCm39)	L339P	probably damaging	Het
Appl1	A	C	14: 26,669,084 (GRCm39)	H363Q	probably benign	Het
Atf6	T	C	1: 170,622,245 (GRCm39)	N459D	probably damaging	Het
Ccdc6	A	T	10: 70,024,993 (GRCm39)	Q432L	unknown	Het
Ccl21a	T	A	4: 42,773,486 (GRCm39)	Q84L	probably damaging	Het
Cct4	A	G	11: 22,951,389 (GRCm39)	I348V	probably benign	Het
Cd300ld2	A	G	11: 114,904,550 (GRCm39)	Y106H	probably damaging	Het
Cdh19	C	T	1: 110,876,947 (GRCm39)	E131K	probably damaging	Het
Cdon	A	G	9: 35,403,175 (GRCm39)	D1095G	probably damaging	Het
Cep85l	T	A	10: 53,157,670 (GRCm39)	R678*	probably null	Het
Chst3	T	A	10: 60,021,465 (GRCm39)	S461C	probably damaging	Het
Clk1	A	G	1: 58,459,312 (GRCm39)	I149T	possibly damaging	Het
Clvs2	T	A	10: 33,389,301 (GRCm39)	D313V	possibly damaging	Het
Dap3	T	C	3: 88,840,913 (GRCm39)	T75A	probably benign	Het
Dnaaf1	T	A	8: 120,324,392 (GRCm39)	F631L	probably benign	Het
Dnah14	A	T	1: 181,597,325 (GRCm39)	N3549I	probably benign	Het
Dnah17	A	T	11: 117,931,870 (GRCm39)	Y3701N	probably damaging	Het
Dock6	A	G	9: 21,752,796 (GRCm39)	V339A	possibly damaging	Het
Dpp6	T	A	5: 27,803,832 (GRCm39)	C259*	probably null	Het
Dqx1	A	G	6: 83,036,024 (GRCm39)	T119A	probably benign	Het
Dync1h1	G	T	12: 110,583,310 (GRCm39)	R469L	probably benign	Het
Eno4	C	T	19: 58,951,260 (GRCm39)	A424V	probably benign	Het
Entrep1	A	T	19: 23,972,221 (GRCm39)	I161N	possibly damaging	Het
Fads1	T	A	19: 10,163,162 (GRCm39)	D146E	probably damaging	Het
Fam171a1	C	T	2: 3,224,543 (GRCm39)	T303M	probably damaging	Het
Fbxw20	C	T	9: 109,050,423 (GRCm39)	D401N	probably benign	Het
Fcho1	T	A	8: 72,163,068 (GRCm39)	T654S	possibly damaging	Het
Flad1	C	A	3: 89,315,858 (GRCm39)	E235*	probably null	Het
Flrt2	G	T	12: 95,745,907 (GRCm39)	A82S	probably benign	Het
Gabrg3	A	T	7: 56,829,386 (GRCm39)	S124T	probably benign	Het
Galt	C	T	4: 41,756,777 (GRCm39)	T139I	probably benign	Het
Garin4	A	G	1: 190,895,153 (GRCm39)	S497P	probably damaging	Het
Gfod1	T	C	13: 43,456,861 (GRCm39)	E38G	possibly damaging	Het
Gm10330	A	G	12: 23,829,992 (GRCm39)	I63T	possibly damaging	Het
Gm3033	A	T	14: 3,846,968 (GRCm38)	N28I		Het
Gm49359	A	G	13: 62,602,867 (GRCm39)	V111A	probably benign	Het
Gpank1	C	T	17: 35,340,734 (GRCm39)		probably benign	Het
Hck	T	C	2: 152,973,185 (GRCm39)	L156P	probably damaging	Het
Hcn3	G	T	3: 89,057,267 (GRCm39)	R444S	probably damaging	Het
Hephl1	T	C	9: 14,988,236 (GRCm39)	N624S	probably damaging	Het
Hmcn1	A	G	1: 150,632,309 (GRCm39)	I876T	probably damaging	Het
Itga9	T	A	9: 118,500,859 (GRCm39)	D377E	possibly damaging	Het
Itpr3	G	A	17: 27,337,651 (GRCm39)		probably benign	Het
Itprid1	G	T	6: 55,944,051 (GRCm39)	R417L	probably benign	Het
Kcnk1	T	A	8: 126,752,152 (GRCm39)		probably null	Het
Lta4h	A	G	10: 93,310,412 (GRCm39)	S427G	probably benign	Het
Lxn	T	A	3: 67,368,651 (GRCm39)	I122F	probably damaging	Het
Lyz1	A	G	10: 117,124,492 (GRCm39)	V148A	possibly damaging	Het
Mael	G	T	1: 166,032,424 (GRCm39)	Q326K	probably benign	Het
Magi3	T	C	3: 103,923,264 (GRCm39)	D1151G	possibly damaging	Het
Map3k9	C	A	12: 81,769,261 (GRCm39)	G929V	probably benign	Het
Mcoln1	A	G	8: 3,555,771 (GRCm39)	Y22C	probably damaging	Het
Mier3	G	T	13: 111,827,870 (GRCm39)	M45I	probably benign	Het
Mrpl1	T	C	5: 96,371,746 (GRCm39)	V91A	probably damaging	Het
Msra	T	C	14: 64,471,269 (GRCm39)		probably null	Het
Myo7a	T	C	7: 97,740,281 (GRCm39)	H571R	probably benign	Het
Myom1	T	A	17: 71,374,325 (GRCm39)	W601R	probably damaging	Het
Myom3	C	T	4: 135,505,479 (GRCm39)	T456I	probably benign	Het
Nags	A	T	11: 102,037,584 (GRCm39)	H225L	probably benign	Het
Ncaph	C	A	2: 126,958,554 (GRCm39)	K488N	probably damaging	Het
Nkain3	C	T	4: 20,484,897 (GRCm39)	R60H	probably damaging	Het
Nlrp9a	A	T	7: 26,261,944 (GRCm39)	M698L	probably benign	Het
Nmur2	A	C	11: 55,931,308 (GRCm39)	I134M	probably benign	Het
Nrp2	A	C	1: 62,784,670 (GRCm39)	E273A	probably benign	Het
Nup85	A	G	11: 115,468,787 (GRCm39)	D210G	possibly damaging	Het
Obscn	A	G	11: 59,006,643 (GRCm39)	F1173S	probably damaging	Het
Or5ac24	A	T	16: 59,165,145 (GRCm39)	C306*	probably null	Het
Otogl	T	A	10: 107,652,974 (GRCm39)	E1126V	probably null	Het
Pfkl	T	C	10: 77,833,426 (GRCm39)	I259V	probably benign	Het
Phkg1	A	T	5: 129,893,863 (GRCm39)	Y291N	probably benign	Het
Piezo2	T	G	18: 63,163,450 (GRCm39)	H2156P	probably damaging	Het
Piezo2	C	A	18: 63,208,790 (GRCm39)	V1408L	probably damaging	Het
Pira13	T	A	7: 3,819,997 (GRCm39)	E640V	unknown	Het
Pkd2	A	G	5: 104,626,959 (GRCm39)		probably null	Het
Plekhg3	A	G	12: 76,622,694 (GRCm39)	T646A	probably benign	Het
Plk5	C	G	10: 80,193,830 (GRCm39)	R40G	probably damaging	Het
Ppp1r12a	T	C	10: 108,098,224 (GRCm39)	S838P	probably damaging	Het
Rarb	A	T	14: 16,435,235 (GRCm38)	Y270*	probably null	Het
Rbm15	T	C	3: 107,239,312 (GRCm39)	E362G	possibly damaging	Het
Rcan1	A	G	16: 92,262,741 (GRCm39)	F76L		Het
Rdh19	T	C	10: 127,696,142 (GRCm39)	L298P	probably damaging	Het
Rims1	T	A	1: 22,498,773 (GRCm39)	H57L		Het
Rlf	T	C	4: 121,004,751 (GRCm39)	T1520A	probably benign	Het
Rnase1	T	A	14: 51,382,964 (GRCm39)	H130L	possibly damaging	Het
Samd8	T	A	14: 21,842,569 (GRCm39)	M360K	probably damaging	Het
Samhd1	A	G	2: 156,956,205 (GRCm39)	L329P	probably damaging	Het
Scube1	C	T	15: 83,494,394 (GRCm39)	E878K	probably damaging	Het
Sema3b	T	C	9: 107,476,154 (GRCm39)	Y689C	probably damaging	Het
Semp2l2a	T	C	8: 13,886,697 (GRCm39)	T465A	possibly damaging	Het
Sgo1	T	C	17: 53,983,931 (GRCm39)		probably benign	Het
Sh3pxd2b	A	T	11: 32,373,361 (GRCm39)	N843Y	possibly damaging	Het
Slco1a6	C	T	6: 142,035,575 (GRCm39)	C583Y	probably damaging	Het
Smg1	A	C	7: 117,811,786 (GRCm39)	V88G	unknown	Het
Spata24	T	A	18: 35,790,054 (GRCm39)	N146Y	probably damaging	Het
Tcf3	C	A	10: 80,253,191 (GRCm39)	V258L	probably benign	Het
Thap1	CAGCATCTGCTCGGAGCA	CAGCA	8: 26,650,884 (GRCm39)		probably null	Het
Tiam2	T	C	17: 3,465,011 (GRCm39)	Y247H	probably damaging	Het
Ticrr	T	C	7: 79,310,604 (GRCm39)	F173L	possibly damaging	Het
Tpp2	A	G	1: 43,993,811 (GRCm39)	E232G	probably damaging	Het
Trank1	T	A	9: 111,174,547 (GRCm39)	V138E	probably damaging	Het
Ttll3	T	C	6: 113,369,596 (GRCm39)	S47P	probably benign	Het
Utp4	C	T	8: 107,632,857 (GRCm39)	T280M	probably damaging	Het
Vmn1r123	A	T	7: 20,896,794 (GRCm39)	N229Y	probably benign	Het
Vmn1r85	A	T	7: 12,818,942 (GRCm39)	Y67*	probably null	Het
Zbtb12	T	A	17: 35,114,320 (GRCm39)	V35E	possibly damaging	Het
Zmym6	T	A	4: 127,017,854 (GRCm39)	F1212I	probably 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
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
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'- AGCCACTCTGGAAGCACAAG -3'
(R):5'- CCAGGTCATTAGTGGCTGTC -3'

Sequencing Primer
(F):5'- GCACAAGGCTTTTCTTACAGG -3'
(R):5'- CCAGGTCATTAGTGGCTGTCCTAAG -3'

Posted On

2022-03-25