Mutagenetix > Incidental Mutation

Incidental Mutation 'R7600:Clec12b'

587964

Institutional Source

Beutler Lab

Gene Symbol

Clec12b

Ensembl Gene

ENSMUSG00000030158

Gene Name

C-type lectin domain family 12, member B

Synonyms

4933425B16Rik

MMRRC Submission

045642-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.048) question?

Stock #

R7600 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

129352478-129362837 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 129353226 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Arginine at position 254 (C254R)

Ref Sequence

ENSEMBL: ENSMUSP00000032261 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000032261
AA Change: C254R

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000032261
Gene: ENSMUSG00000030158
AA Change: C254R

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000112082
AA Change: C254R

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000107713
Gene: ENSMUSG00000030158
AA Change: C254R

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: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.0%

Validation Efficiency

100% (45/45)

Allele List at MGI

Other mutations in this stock

Total: 44 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam25	G	A	8: 41,208,854 (GRCm39)	V707I	probably benign	Het
Ahnak	A	T	19: 8,981,938 (GRCm39)	D1074V	possibly damaging	Het
Aldh4a1	A	G	4: 139,372,315 (GRCm39)	M495V	probably benign	Het
Atxn1	T	G	13: 45,710,536 (GRCm39)	K799Q	possibly damaging	Het
Catsperg2	A	T	7: 29,404,283 (GRCm39)	S831T	probably benign	Het
Cldn1	T	C	16: 26,179,669 (GRCm39)	T133A	probably benign	Het
Cnnm2	A	T	19: 46,750,506 (GRCm39)	T99S	probably benign	Het
Col6a4	T	G	9: 105,944,198 (GRCm39)	D1092A	possibly damaging	Het
Dnajc9	A	G	14: 20,438,793 (GRCm39)	L20P	probably damaging	Het
Dsp	C	A	13: 38,375,691 (GRCm39)	Q1159K	probably damaging	Het
Dst	C	T	1: 34,306,011 (GRCm39)	T4110I	probably damaging	Het
Epb42	A	G	2: 120,852,307 (GRCm39)	L562P	probably damaging	Het
Fras1	T	C	5: 96,832,295 (GRCm39)	Y1543H	probably damaging	Het
Igkv1-117	T	A	6: 68,098,100 (GRCm39)	V9E	possibly damaging	Het
Kbtbd8	T	A	6: 95,099,573 (GRCm39)	Y361N	probably damaging	Het
Lrp1	C	T	10: 127,391,575 (GRCm39)	R2948H	probably benign	Het
Lrp10	G	T	14: 54,706,852 (GRCm39)	R563L	possibly damaging	Het
Mllt3	G	T	4: 87,759,456 (GRCm39)	H197Q	probably benign	Het
Myo18b	G	A	5: 113,025,969 (GRCm39)	P27L	unknown	Het
Nlrp1a	C	A	11: 70,989,740 (GRCm39)	R1110L	probably damaging	Het
Nol10	T	G	12: 17,419,481 (GRCm39)	D257E	probably damaging	Het
Olfm3	T	C	3: 114,890,589 (GRCm39)	V114A	possibly damaging	Het
Or2a57	C	A	6: 43,212,770 (GRCm39)	T76K	probably damaging	Het
Or2t43	T	C	11: 58,458,162 (GRCm39)	N3S	probably benign	Het
Pdzd2	G	T	15: 12,372,820 (GRCm39)	D2438E	probably damaging	Het
Prl7a2	T	G	13: 27,843,264 (GRCm39)	I180L	possibly damaging	Het
Ptch2	A	T	4: 116,953,422 (GRCm39)		probably benign	Het
Snrpn	A	G	7: 59,638,351 (GRCm39)	M1T	probably null	Het
Sntb1	A	T	15: 55,655,584 (GRCm39)	W211R	possibly damaging	Het
Sp110	G	A	1: 85,506,813 (GRCm39)	R417C	probably benign	Het
Sytl2	T	C	7: 90,025,352 (GRCm39)	S447P	probably benign	Het
Tas2r129	G	T	6: 132,928,137 (GRCm39)	G25*	probably null	Het
Tcstv7a	A	T	13: 120,290,232 (GRCm39)		probably null	Het
Tle2	T	G	10: 81,422,147 (GRCm39)	Y396*	probably null	Het
Trpm2	T	C	10: 77,773,885 (GRCm39)	K510R	probably benign	Het
Trpm3	A	G	19: 22,903,458 (GRCm39)	T1073A	possibly damaging	Het
Ttc24	A	T	3: 87,979,320 (GRCm39)	M1K	probably null	Het
Tubgcp5	A	G	7: 55,458,261 (GRCm39)	T391A	probably benign	Het
Vmn1r17	T	C	6: 57,337,906 (GRCm39)	E153G	probably benign	Het
Vmn1r232	A	T	17: 21,133,999 (GRCm39)	N200K	possibly damaging	Het
Zcwpw1	A	T	5: 137,798,396 (GRCm39)	K198*	probably null	Het
Zfp142	A	G	1: 74,612,827 (GRCm39)	V641A	probably damaging	Het
Zfp318	C	T	17: 46,695,210 (GRCm39)	A149V	possibly damaging	Het
Zfp608	T	C	18: 55,121,092 (GRCm39)	N165S	probably 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
R0786:Clec12b	UTSW	6	129,357,651 (GRCm39)	missense	probably benign	0.07
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
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

PCR Primer
(F):5'- AGAAGCAGGTTTGTCCGTGC -3'
(R):5'- CCTGCTGCTTTGTAGAGGATGC -3'

Sequencing Primer
(F):5'- AAGCAGGTTTGTCCGTGCAATAG -3'
(R):5'- AGAGTCGGATTTTTCCCTCTAAAGG -3'

Posted On

2019-10-24