Mutagenetix > Incidental Mutation

Incidental Mutation 'R7760:Clec4d'

597787

Institutional Source

Beutler Lab

Gene Symbol

Clec4d

Ensembl Gene

ENSMUSG00000030144

Gene Name

C-type lectin domain family 4, member d

Synonyms

mcl, Clecsf8, mMCL, Mpcl

MMRRC Submission

045816-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7760 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

123239070-123252224 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 123247300 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Aspartic acid at position 148 (N148D)

Ref Sequence

ENSEMBL: ENSMUSP00000032240 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000032240] [ENSMUST00000204826]

AlphaFold

Q9Z2H6

Predicted Effect

probably benign
Transcript: ENSMUST00000032240
AA Change: N148D

PolyPhen 2 Score 0.011 (Sensitivity: 0.96; Specificity: 0.78)

SMART Domains

Protein: ENSMUSP00000032240
Gene: ENSMUSG00000030144
AA Change: N148D

Domain	Start	End	E-Value	Type
transmembrane domain	21	43	N/A	INTRINSIC
CLECT	83	207	1.59e-27	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000204826

SMART Domains

Protein: ENSMUSP00000145134
Gene: ENSMUSG00000030144

Domain	Start	End	E-Value	Type
Blast:CLECT	28	77	1e-8	BLAST

Meta Mutation Damage Score

0.0918

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.2%

Validation Efficiency

100% (55/55)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the C-type lectin/C-type lectin-like domain (CTL/CTLD) superfamily. Members of this family share a common protein fold and have diverse functions, such as cell adhesion, cell-cell signalling, glycoprotein turnover, and roles in inflammation and immune response. This gene is closely linked to other CTL/CTLD superfamily members on chromosome 12p13 in the natural killer gene complex region. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit decreased sensitivity to trehalose-6,60'-dimycolate treatment. Mice homozygous for a different knock-out allele exhibit increased susceptibility to pneumonia infection. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Anxa11	C	T	14: 25,873,251 (GRCm39)	Q162*	probably null	Het
Arg1	T	G	10: 24,803,361 (GRCm39)		probably benign	Het
Arl6	T	C	16: 59,439,169 (GRCm39)	D175G	probably damaging	Het
Capg	A	G	6: 72,534,769 (GRCm39)	R199G	probably damaging	Het
Ceacam1	T	A	7: 25,171,450 (GRCm39)	E338V	probably damaging	Het
Ctr9	T	G	7: 110,645,808 (GRCm39)	I653R	probably damaging	Het
Dmwd	C	T	7: 18,814,660 (GRCm39)	L437F	probably damaging	Het
Dnah7b	T	A	1: 46,240,413 (GRCm39)	L1510Q	probably damaging	Het
Efcab5	T	A	11: 77,042,752 (GRCm39)	E136D	probably benign	Het
Elfn2	C	T	15: 78,558,041 (GRCm39)	A169T	probably benign	Het
Elp1	A	G	4: 56,790,892 (GRCm39)	V287A	probably benign	Het
Esrp2	T	A	8: 106,860,102 (GRCm39)	E326D	probably benign	Het
Fbrs	T	C	7: 127,088,572 (GRCm39)	V718A	probably damaging	Het
Fbxl21	C	T	13: 56,684,816 (GRCm39)	R307C	probably benign	Het
Fbxl21	T	C	13: 56,674,747 (GRCm39)	S33P	probably benign	Het
Gatad2b	C	T	3: 90,261,776 (GRCm39)	R461W	probably damaging	Het
Gm19410	T	A	8: 36,269,491 (GRCm39)	C1109S	probably damaging	Het
Gm6882	T	A	7: 21,161,409 (GRCm39)	D153V	probably damaging	Het
Golga3	A	G	5: 110,353,716 (GRCm39)	E918G	probably benign	Het
Greb1	T	C	12: 16,773,417 (GRCm39)	N219S	probably benign	Het
Grpel1	G	T	5: 36,627,986 (GRCm39)	R89L	probably damaging	Het
Ighv5-12	T	A	12: 113,665,795 (GRCm39)	Q101L	probably benign	Het
Ldb3	T	A	14: 34,264,460 (GRCm39)	N590I	probably damaging	Het
Man2c1	T	C	9: 57,046,647 (GRCm39)	V636A	probably benign	Het
Mblac2	G	T	13: 81,859,996 (GRCm39)	V117L	probably benign	Het
Muc6	T	A	7: 141,237,322 (GRCm39)		probably null	Het
Nfatc3	A	G	8: 106,834,973 (GRCm39)	E773G	possibly damaging	Het
Ngef	T	C	1: 87,468,495 (GRCm39)	D88G	probably benign	Het
Nipbl	T	C	15: 8,388,186 (GRCm39)	E478G	probably damaging	Het
Or2t6	T	C	14: 14,175,905 (GRCm38)	Y59C	probably damaging	Het
Pbx4	C	A	8: 70,285,445 (GRCm39)	D29E	probably benign	Het
Pcdhgb5	A	G	18: 37,864,690 (GRCm39)	I162V	not run	Het
Pdcd11	G	A	19: 47,101,637 (GRCm39)	V941M	possibly damaging	Het
Pigr	A	T	1: 130,774,368 (GRCm39)	R449S	possibly damaging	Het
Plcb2	T	C	2: 118,541,869 (GRCm39)	T914A	probably benign	Het
Ppp5c	A	G	7: 16,740,274 (GRCm39)	S387P	probably damaging	Het
Rnf7l	T	C	10: 63,257,316 (GRCm39)	K68R	probably damaging	Het
Rtkn2	T	G	10: 67,841,439 (GRCm39)	S196A	probably damaging	Het
Sec31a	A	G	5: 100,540,487 (GRCm39)	F400L	probably damaging	Het
Senp7	A	T	16: 55,959,442 (GRCm39)	M251L	probably benign	Het
Slc6a5	T	C	7: 49,596,365 (GRCm39)	F612L	probably benign	Het
Slc7a9	T	C	7: 35,156,500 (GRCm39)	I314T	possibly damaging	Het
Smc5	A	C	19: 23,213,254 (GRCm39)	S553A	probably benign	Het
Spaca3	T	A	11: 80,755,389 (GRCm39)	V133D	probably damaging	Het
Taco1	T	A	11: 105,963,938 (GRCm39)	D232E	possibly damaging	Het
Tarbp1	C	T	8: 127,179,546 (GRCm39)	R664H	not run	Het
Tlk2	T	C	11: 105,169,993 (GRCm39)	I674T	probably damaging	Het
Tnxb	A	T	17: 34,931,911 (GRCm39)	E2148V	probably damaging	Het
Tom1l2	T	C	11: 60,165,791 (GRCm39)	S59G	probably benign	Het
Traj46	A	T	14: 54,409,813 (GRCm39)	H7L		Het
Traj46	T	G	14: 54,409,814 (GRCm39)	H7Q		Het
Trav6-4	T	A	14: 53,692,103 (GRCm39)	L70Q	possibly damaging	Het
Trmt1l	C	T	1: 151,318,425 (GRCm39)	T245I	possibly damaging	Het
Wac	T	A	18: 7,921,913 (GRCm39)	C601S	probably benign	Het
Wnt3	T	A	11: 103,702,266 (GRCm39)	H145Q	probably benign	Het
Zfp948	T	C	17: 21,808,628 (GRCm39)	C607R	probably damaging	Het

Other mutations in Clec4d

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00471:Clec4d	APN	6	123,251,732 (GRCm39)	missense	probably damaging	1.00
R0111:Clec4d	UTSW	6	123,245,006 (GRCm39)	nonsense	probably null
R0157:Clec4d	UTSW	6	123,244,095 (GRCm39)	missense	probably benign	0.00
R1756:Clec4d	UTSW	6	123,244,068 (GRCm39)	missense	probably damaging	0.99
R1928:Clec4d	UTSW	6	123,244,120 (GRCm39)	splice site	probably null
R1964:Clec4d	UTSW	6	123,239,319 (GRCm39)	missense	probably benign	0.05
R2208:Clec4d	UTSW	6	123,242,314 (GRCm39)	missense	probably damaging	0.98
R2443:Clec4d	UTSW	6	123,245,076 (GRCm39)	missense	probably benign	0.32
R4740:Clec4d	UTSW	6	123,245,072 (GRCm39)	missense	probably damaging	1.00
R5101:Clec4d	UTSW	6	123,244,071 (GRCm39)	missense	probably damaging	1.00
R5692:Clec4d	UTSW	6	123,245,104 (GRCm39)	critical splice donor site	probably null
R5785:Clec4d	UTSW	6	123,251,729 (GRCm39)	missense	probably benign	0.09
R5903:Clec4d	UTSW	6	123,244,020 (GRCm39)	missense	probably damaging	0.98
R6005:Clec4d	UTSW	6	123,244,118 (GRCm39)	missense	probably damaging	0.99
R6209:Clec4d	UTSW	6	123,247,488 (GRCm39)	splice site	probably null
R7867:Clec4d	UTSW	6	123,244,123 (GRCm39)	critical splice donor site	probably null
R8198:Clec4d	UTSW	6	123,244,965 (GRCm39)	missense	probably damaging	1.00
R8204:Clec4d	UTSW	6	123,242,323 (GRCm39)	missense	probably damaging	0.98
R9198:Clec4d	UTSW	6	123,251,757 (GRCm39)	missense	probably damaging	1.00
R9278:Clec4d	UTSW	6	123,251,651 (GRCm39)	nonsense	probably null
R9278:Clec4d	UTSW	6	123,251,649 (GRCm39)	missense	probably benign	0.05
Z1176:Clec4d	UTSW	6	123,251,645 (GRCm39)	missense	probably benign	0.01
Z1177:Clec4d	UTSW	6	123,245,033 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GCTTAGCTTGTGATCTCATTGC -3'
(R):5'- GCATACAGAGACTGCTCAACTG -3'

Sequencing Primer
(F):5'- TAGCTTGTGATCTCATTGCCCTCG -3'
(R):5'- AGACTGCTCAACTGCTGGTGATC -3'

Posted On

2019-11-26