Mutagenetix > Incidental Mutation

Incidental Mutation 'R0786:Clec12b'

76853

Institutional Source

Beutler Lab

Gene Symbol

Clec12b

Ensembl Gene

ENSMUSG00000030158

Gene Name

C-type lectin domain family 12, member B

Synonyms

4933425B16Rik

MMRRC Submission

038966-MU

Accession Numbers

Essential gene?

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

Stock #

R0786 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

129352478-129362837 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 129357651 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Serine at position 69 (N69S)

Ref Sequence

ENSEMBL: ENSMUSP00000107713 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000032261] [ENSMUST00000112082]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000032261
AA Change: N69S

PolyPhen 2 Score 0.067 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000032261
Gene: ENSMUSG00000030158
AA Change: N69S

Domain	Start	End	E-Value	Type
low complexity region	46	60	N/A	INTRINSIC
CLECT	142	263	6.62e-25	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000112082
AA Change: N69S

PolyPhen 2 Score 0.067 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000107713
Gene: ENSMUSG00000030158
AA Change: N69S

Domain	Start	End	E-Value	Type
low complexity region	46	60	N/A	INTRINSIC
CLECT	142	263	6.62e-25	SMART

Coding Region Coverage

1x: 99.3%
3x: 98.6%
10x: 96.6%
20x: 92.6%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 42 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adrb3	T	C	8: 27,716,880 (GRCm39)		probably benign	Het
Atg2b	T	C	12: 105,602,767 (GRCm39)	H1592R	probably benign	Het
Bpifb1	C	T	2: 154,044,581 (GRCm39)	A16V	probably benign	Het
Cep57	T	A	9: 13,721,166 (GRCm39)	Y271F	probably damaging	Het
Cfap54	A	T	10: 92,803,397 (GRCm39)	N1548K	possibly damaging	Het
Chrna6	A	T	8: 27,898,408 (GRCm39)	D103E	probably benign	Het
Col27a1	T	C	4: 63,209,815 (GRCm39)		probably null	Het
Cwh43	T	A	5: 73,565,526 (GRCm39)	Y30*	probably null	Het
Dnai7	A	G	6: 145,127,483 (GRCm39)		probably null	Het
Dsg4	T	C	18: 20,582,429 (GRCm39)		probably null	Het
Efna3	T	C	3: 89,223,880 (GRCm39)	N103S	probably damaging	Het
Efr3a	A	G	15: 65,725,400 (GRCm39)	D532G	possibly damaging	Het
Fam227a	A	T	15: 79,510,469 (GRCm39)	V395D	probably benign	Het
Fes	T	A	7: 80,036,668 (GRCm39)	D93V	probably damaging	Het
Gbp3	T	A	3: 142,276,732 (GRCm39)	M510K	possibly damaging	Het
Gpr12	A	T	5: 146,520,314 (GRCm39)	S44T	probably damaging	Het
Gpr179	T	C	11: 97,234,100 (GRCm39)	N583S	probably damaging	Het
Hipk1	T	C	3: 103,651,620 (GRCm39)	T1093A	probably benign	Het
Hspb1	T	C	5: 135,918,097 (GRCm39)	L148P	probably damaging	Het
Kirrel3	A	G	9: 34,946,161 (GRCm39)	N640S	probably damaging	Het
Mak	G	T	13: 41,199,545 (GRCm39)	Q365K	probably benign	Het
Melk	A	G	4: 44,303,649 (GRCm39)	Y14C	unknown	Het
Myh7	T	C	14: 55,230,330 (GRCm39)	M1V	probably null	Het
Nsmf	A	G	2: 24,950,522 (GRCm39)	Y330C	probably damaging	Het
Parp14	A	G	16: 35,661,172 (GRCm39)	F1592S	possibly damaging	Het
Pnpla6	A	T	8: 3,573,317 (GRCm39)	I394F	probably benign	Het
Ppl	T	C	16: 4,906,918 (GRCm39)	R1126G	probably damaging	Het
Prss8	C	T	7: 127,525,646 (GRCm39)	R291Q	probably benign	Het
Ptpro	T	A	6: 137,420,592 (GRCm39)	V1007D	probably damaging	Het
Rasgrp1	G	T	2: 117,130,980 (GRCm39)	D155E	probably benign	Het
Recql5	T	C	11: 115,786,628 (GRCm39)	I563V	probably benign	Het
Rhbg	C	T	3: 88,151,875 (GRCm39)	M394I	probably benign	Het
Rnf130	A	G	11: 49,978,264 (GRCm39)	D275G	probably damaging	Het
Smg9	T	C	7: 24,120,289 (GRCm39)	F421S	probably benign	Het
Tgm2	T	C	2: 157,966,301 (GRCm39)	E451G	probably damaging	Het
Tle1	T	A	4: 72,117,598 (GRCm39)	T21S	probably damaging	Het
Tmc5	T	C	7: 118,226,433 (GRCm39)	I266T	possibly damaging	Het
Tmigd3	T	A	3: 105,824,318 (GRCm39)	C96S	probably damaging	Het
Trdn	A	T	10: 33,181,077 (GRCm39)	T361S	probably benign	Het
Vgll3	A	T	16: 65,657,568 (GRCm39)	Q261L	probably benign	Het
Vmn2r104	A	T	17: 20,262,987 (GRCm39)	I158K	probably benign	Het
Zfp964	A	G	8: 70,116,731 (GRCm39)	K444E	possibly damaging	Het

Other mutations in Clec12b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01014:Clec12b	APN	6	129,362,393 (GRCm39)	missense	probably damaging	0.98
IGL01328:Clec12b	APN	6	129,356,517 (GRCm39)	missense	probably damaging	1.00
IGL01985:Clec12b	APN	6	129,359,334 (GRCm39)	splice site	probably benign
IGL03101:Clec12b	APN	6	129,356,480 (GRCm39)	splice site	probably null
R0662:Clec12b	UTSW	6	129,353,200 (GRCm39)	missense	probably damaging	1.00
R1468:Clec12b	UTSW	6	129,357,603 (GRCm39)	missense	probably damaging	0.98
R1468:Clec12b	UTSW	6	129,357,603 (GRCm39)	missense	probably damaging	0.98
R1513:Clec12b	UTSW	6	129,353,265 (GRCm39)	missense	probably damaging	1.00
R4757:Clec12b	UTSW	6	129,357,655 (GRCm39)	missense	probably damaging	1.00
R5566:Clec12b	UTSW	6	129,362,438 (GRCm39)	missense	probably damaging	0.99
R5643:Clec12b	UTSW	6	129,356,923 (GRCm39)	missense	probably benign
R5644:Clec12b	UTSW	6	129,356,923 (GRCm39)	missense	probably benign
R7351:Clec12b	UTSW	6	129,356,874 (GRCm39)	critical splice donor site	probably null
R7600:Clec12b	UTSW	6	129,353,226 (GRCm39)	missense	probably damaging	1.00
R8347:Clec12b	UTSW	6	129,357,450 (GRCm39)	critical splice donor site	probably null
R9076:Clec12b	UTSW	6	129,356,580 (GRCm39)	missense	possibly damaging	0.94

Predicted Primers

Posted On

2013-10-16