Mutagenetix > Incidental Mutation

Incidental Mutation 'R5568:Klrb1c'

437013

Institutional Source

Beutler Lab

Gene Symbol

Klrb1c

Ensembl Gene

ENSMUSG00000030325

Gene Name

killer cell lectin-like receptor subfamily B member 1C

Synonyms

NK-RP1, Nk1.1, Nk1, Ly-59, Ly59, Ly55c, CD161, Nkrp1-c, Nk-1, NKR-P1C, NK-1.1, Nk-1.2, NKR-P1

MMRRC Submission

043125-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.050) question?

Stock #

R5568 (G1)

Quality Score

102

Status

Not validated

Chromosome

Chromosomal Location

128778485-128789215 bp(-) (GRCm38)

Type of Mutation

intron

DNA Base Change (assembly)

A to G at 128788914 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000144777 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000167691] [ENSMUST00000174404] [ENSMUST00000174865] [ENSMUST00000204394] [ENSMUST00000204423] [ENSMUST00000204677] [ENSMUST00000204756]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000167691

SMART Domains

Protein: ENSMUSP00000127297
Gene: ENSMUSG00000030325

Domain	Start	End	E-Value	Type
transmembrane domain	87	109	N/A	INTRINSIC
CLECT	139	256	1.65e-25	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000172601

SMART Domains

Protein: ENSMUSP00000134184
Gene: ENSMUSG00000030325

Domain	Start	End	E-Value	Type
transmembrane domain	41	63	N/A	INTRINSIC
CLECT	90	207	1.65e-25	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000174404

SMART Domains

Protein: ENSMUSP00000134504
Gene: ENSMUSG00000030325

Domain	Start	End	E-Value	Type
transmembrane domain	87	109	N/A	INTRINSIC
CLECT	142	259	1.65e-25	SMART

Predicted Effect

unknown
Transcript: ENSMUST00000174865
AA Change: S6P

SMART Domains

Protein: ENSMUSP00000134055
Gene: ENSMUSG00000030325
AA Change: S6P

Domain	Start	End	E-Value	Type
transmembrane domain	76	98	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000204394

SMART Domains

Protein: ENSMUSP00000145481
Gene: ENSMUSG00000107872

Domain	Start	End	E-Value	Type
transmembrane domain	44	66	N/A	INTRINSIC
CLECT	94	211	8.5e-28	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000204423

SMART Domains

Protein: ENSMUSP00000145327
Gene: ENSMUSG00000107872

Domain	Start	End	E-Value	Type
transmembrane domain	44	66	N/A	INTRINSIC
CLECT	94	211	8.7e-27	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000204677

SMART Domains

Protein: ENSMUSP00000145287
Gene: ENSMUSG00000107872

Domain	Start	End	E-Value	Type
transmembrane domain	44	66	N/A	INTRINSIC
PDB:3M9Z\|A	89	144	2e-30	PDB
SCOP:d1e87a_	94	143	2e-12	SMART
Blast:CLECT	94	144	3e-30	BLAST

Predicted Effect

probably benign
Transcript: ENSMUST00000204756

SMART Domains

Protein: ENSMUSP00000144777
Gene: ENSMUSG00000107872

Domain	Start	End	E-Value	Type
transmembrane domain	35	57	N/A	INTRINSIC
CLECT	85	185	1e-14	SMART

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.3%
20x: 95.0%

Validation Efficiency

MGI Phenotype

PHENOTYPE: This locus controls an antigen on natural killer cells. The a allele determines the Nk1.1 antigen in strains CE, C57BL/6, C57BR/cd, C57L, C58, DBA/1, MA/My, NZB, SJL, SM and B10.D2. The b allele determines the Nk1.2 antigen in strains CBA/J, BALB/c, C3H/He, A/J, DBA/2, LP and 129. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 96 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aadacl4	T	C	4: 144,622,794	V207A	probably benign	Het
Abcc10	C	A	17: 46,303,908		probably null	Het
Abcc9	A	C	6: 142,689,016	V174G	possibly damaging	Het
Abl1	C	T	2: 31,779,074	A155V	probably damaging	Het
Aco2	T	A	15: 81,903,586	D212E	probably damaging	Het
Adam26b	A	T	8: 43,520,492	M491K	probably benign	Het
Anapc5	G	A	5: 122,791,925		probably benign	Het
Atf7	A	G	15: 102,563,322	I46T	probably damaging	Het
Cacna1b	A	G	2: 24,607,600	S2100P	probably damaging	Het
Capn5	T	A	7: 98,125,930	D501V	probably damaging	Het
Cc2d2a	A	G	5: 43,709,091	M748V	probably damaging	Het
Cd300c2	T	C	11: 115,000,836	T71A	probably damaging	Het
Chmp2a	T	C	7: 13,033,831	M56V	probably benign	Het
Cilp	A	C	9: 65,280,233	R1203S	probably benign	Het
Clp1	T	A	2: 84,725,978	K53*	probably null	Het
Crhbp	T	A	13: 95,442,229	D128V	probably damaging	Het
Crispld1	T	A	1: 17,750,271	I292N	probably benign	Het
Cyp2c68	A	T	19: 39,689,082	I488N	probably benign	Het
Cyp3a57	A	T	5: 145,370,646	M149L	probably benign	Het
Ddx24	T	A	12: 103,424,288	Q59L	possibly damaging	Het
Ddx27	A	G	2: 167,029,519	H512R	possibly damaging	Het
Ddx58	T	A	4: 40,222,140	M380L	probably benign	Het
Dlgap4	T	A	2: 156,762,901	*993K	probably null	Het
Dmxl2	A	T	9: 54,423,359		probably null	Het
Dus4l	A	T	12: 31,646,713	F88L	probably damaging	Het
Ep400	A	T	5: 110,756,205	V176E	probably damaging	Het
Fam71e1	T	G	7: 44,501,004	S207A	probably damaging	Het
Fat3	T	A	9: 16,376,923	K435*	probably null	Het
Fsip2	T	C	2: 82,986,564	C4214R	probably benign	Het
Gfral	T	C	9: 76,164,805	*394W	probably null	Het
Glis1	T	C	4: 107,619,635	S518P	probably damaging	Het
H2-T10	A	G	17: 36,119,187		probably null	Het
Hsbp1l1	T	C	18: 80,235,464	T35A	possibly damaging	Het
Ighv5-12	A	G	12: 113,702,217	F87S	probably damaging	Het
Ints13	A	C	6: 146,576,357	D31E	probably damaging	Het
Kbtbd12	C	T	6: 88,618,627	D74N	probably damaging	Het
Kmt5b	A	T	19: 3,786,538	H25L	probably benign	Het
Krt28	A	T	11: 99,371,384	M260K	probably damaging	Het
Krt79	A	G	15: 101,929,785	S512P	probably damaging	Het
Lama1	A	T	17: 67,768,298		probably null	Het
Maneal	T	C	4: 124,857,144	E273G	possibly damaging	Het
Map4k3	T	A	17: 80,663,998	Y80F	possibly damaging	Het
Mbd6	A	G	10: 127,283,428	V946A	possibly damaging	Het
Mfsd14b	A	T	13: 65,072,122		probably null	Het
Mrpl46	C	G	7: 78,780,494	W176S	probably damaging	Het
Muc19	A	G	15: 91,884,274		noncoding transcript	Het
Mup3	T	G	4: 62,084,572	E184A	possibly damaging	Het
Myo9a	A	G	9: 59,874,628	H1699R	probably benign	Het
Ndrg2	T	A	14: 51,906,963	T269S	probably damaging	Het
Nfatc1	A	T	18: 80,649,822	V688D	probably benign	Het
Ninj2	T	C	6: 120,198,709	I101T	probably benign	Het
Nlrp10	T	A	7: 108,924,261	M671L	probably benign	Het
Npsr1	T	A	9: 24,313,214	L296I	probably damaging	Het
Olfr582	G	T	7: 103,042,310	R272L	possibly damaging	Het
Olfr975	A	G	9: 39,950,687	L28P	probably benign	Het
Pacsin1	T	A	17: 27,708,048	D242E	probably damaging	Het
Pcdh1	T	C	18: 38,197,367	Y861C	probably damaging	Het
Pcdha12	T	C	18: 37,020,390	L54P	probably damaging	Het
Pcdhb18	T	A	18: 37,491,800	S728T	probably benign	Het
Phyhd1	T	A	2: 30,277,010	H108Q	probably damaging	Het
Plcb1	A	T	2: 135,370,593	I1035F	probably damaging	Het
Plcl1	T	C	1: 55,696,150	S217P	possibly damaging	Het
Plppr2	G	A	9: 21,941,129	R103H	probably damaging	Het
Plxnb2	G	A	15: 89,157,435	T1722I	probably damaging	Het
Pole3	T	C	4: 62,524,431	N53S	probably damaging	Het
Ptk6	A	T	2: 181,199,695	N140K	possibly damaging	Het
Rab12	C	T	17: 66,497,423	R180H	probably damaging	Het
Rab36	G	T	10: 75,052,479	V252L	probably benign	Het
Ranbp3	T	C	17: 56,701,543		probably null	Het
Rapgef2	A	G	3: 79,104,001	L259P	probably damaging	Het
Scaf4	GGCTGCTGCTGCTGCTGCTGCTGCTG	GGCTGCTGCTGCTGCTGCTGCTG	16: 90,229,857		probably benign	Het
Scd2	T	C	19: 44,299,703	F178S	probably damaging	Het
Shmt2	A	G	10: 127,520,381	S87P	probably damaging	Het
Slf1	T	A	13: 77,046,704	D834V	probably damaging	Het
Sorcs2	A	C	5: 36,046,530	Y540*	probably null	Het
Srpk2	T	A	5: 23,525,699	Q274L	possibly damaging	Het
Stradb	T	A	1: 58,992,742	M271K	possibly damaging	Het
Tfec	T	A	6: 16,867,593	Q16L	possibly damaging	Het
Tfg	T	C	16: 56,701,087	T63A	probably benign	Het
Ticrr	G	A	7: 79,689,967		probably null	Het
Ticrr	T	A	7: 79,695,296	C1636*	probably null	Het
Tln2	A	G	9: 67,311,865	I266T	probably damaging	Het
Tmcc1	G	C	6: 116,022,110	R323G	possibly damaging	Het
Tnnt3	A	G	7: 142,512,040	E138G	probably damaging	Het
Tpm2	C	A	4: 43,522,692	E75*	probably null	Het
Ttn	T	G	2: 76,750,578	T23324P	probably damaging	Het
Ubr4	T	G	4: 139,392,038	L176R	probably damaging	Het
Uhrf2	G	T	19: 30,039,088	D46Y	probably damaging	Het
Ulbp1	A	C	10: 7,473,281	S21A	unknown	Het
Usp17lb	C	T	7: 104,841,208	G170R	probably damaging	Het
Utp15	T	C	13: 98,257,925	N153S	probably benign	Het
Vcan	T	A	13: 89,688,671	E2918V	probably damaging	Het
Vmn1r174	T	A	7: 23,754,494	I195K	probably damaging	Het
Vmn1r76	C	T	7: 11,931,135	V16I	probably benign	Het
Xdh	T	C	17: 73,943,885	D24G	possibly damaging	Het
Xylb	T	A	9: 119,361,132	H68Q	probably benign	Het

Other mutations in Klrb1c

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02636:Klrb1c	APN	6	128788552	missense	probably benign	0.01
Eccentric	UTSW	6	128784739	missense	possibly damaging	0.88
Freakish	UTSW	6	128784185	missense	probably benign	0.38
Unnatural	UTSW	6	128784211	missense	probably benign	0.09
wacky	UTSW	6	128780343	missense	probably damaging	1.00
Weird	UTSW	6	128784257	missense	probably benign	0.00
Wild	UTSW	6	128786005	missense	probably benign	0.09
R0463:Klrb1c	UTSW	6	128780403	missense	probably benign	0.07
R3157:Klrb1c	UTSW	6	128784739	missense	possibly damaging	0.88
R3779:Klrb1c	UTSW	6	128780343	missense	probably damaging	1.00
R5111:Klrb1c	UTSW	6	128786005	missense	probably benign	0.09
R5149:Klrb1c	UTSW	6	128783707	missense	probably benign	0.07
R5196:Klrb1c	UTSW	6	128780299	missense	probably benign	0.00
R5620:Klrb1c	UTSW	6	128784743	missense	possibly damaging	0.67
R6000:Klrb1c	UTSW	6	128784157	missense	probably damaging	1.00
R6483:Klrb1c	UTSW	6	128784185	missense	probably benign	0.38
R6854:Klrb1c	UTSW	6	128788418	missense	possibly damaging	0.87
R7283:Klrb1c	UTSW	6	128784257	missense	probably benign	0.00
R7697:Klrb1c	UTSW	6	128780310	missense	probably benign	0.02
R7946:Klrb1c	UTSW	6	128789109	intron	probably benign
R8789:Klrb1c	UTSW	6	128784185	missense	probably benign	0.38
R9665:Klrb1c	UTSW	6	128783662	critical splice donor site	probably null
Z1177:Klrb1c	UTSW	6	128788447	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CTGACTGACCTTGCTGTCTG -3'
(R):5'- GGCTGCATTCACCTTGAGAG -3'

Sequencing Primer
(F):5'- GTGTTCTTCCCTCATACAAAACAC -3'
(R):5'- GGCTGCATTCACCTTGAGAGAATAAC -3'

Posted On

2016-10-24