Mutagenetix > Incidental Mutation

Incidental Mutation 'R0157:Clec4d'

22910

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

038437-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0157 (G1)

Quality Score

189

Status

Validated (trace)

Chromosome

Chromosomal Location

123239070-123252224 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 123244095 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Leucine at position 68 (R68L)

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: R68L

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

SMART Domains

Protein: ENSMUSP00000032240
Gene: ENSMUSG00000030144
AA Change: R68L

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000203421

Predicted Effect

probably benign
Transcript: ENSMUST00000204826
AA Change: R68L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000145134
Gene: ENSMUSG00000030144
AA Change: R68L

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

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 98.9%
3x: 97.9%
10x: 95.0%
20x: 88.5%

Validation Efficiency

64% (47/73)

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: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adap2	T	A	11: 80,056,527 (GRCm39)	I180N	probably damaging	Het
Alk	T	A	17: 72,256,840 (GRCm39)	N673I	probably benign	Het
Ankrd7	T	C	6: 18,866,539 (GRCm39)	S20P	probably damaging	Het
Arhgef26	T	G	3: 62,288,392 (GRCm39)	D487E	probably damaging	Het
Arhgef4	A	G	1: 34,845,475 (GRCm39)	D1500G	probably damaging	Het
Arhgef7	A	G	8: 11,835,812 (GRCm39)	I39V	probably damaging	Het
Asap2	T	A	12: 21,256,326 (GRCm39)	I208N	probably damaging	Het
Atad5	T	C	11: 79,980,643 (GRCm39)	V16A	possibly damaging	Het
Atp2b1	T	C	10: 98,835,809 (GRCm39)	I518T	probably damaging	Het
B130006D01Rik	T	C	11: 95,617,211 (GRCm39)		probably benign	Het
BC028528	A	G	3: 95,792,280 (GRCm39)		probably null	Het
Bpifb6	T	A	2: 153,745,886 (GRCm39)	L74Q	probably benign	Het
Bptf	T	C	11: 106,965,484 (GRCm39)	T1122A	possibly damaging	Het
Cacna2d4	T	A	6: 119,289,385 (GRCm39)	D806E	probably benign	Het
Cdhr3	T	C	12: 33,111,649 (GRCm39)	Q287R	possibly damaging	Het
Cdk12	A	G	11: 98,140,602 (GRCm39)		probably benign	Het
Cenpf	T	A	1: 189,384,556 (GRCm39)	T2575S	probably benign	Het
Chd7	T	A	4: 8,833,759 (GRCm39)	I1171N	probably damaging	Het
Chd9	T	C	8: 91,735,464 (GRCm39)		probably null	Het
Ckmt1	A	G	2: 121,193,522 (GRCm39)	T361A	possibly damaging	Het
Csmd2	G	T	4: 128,415,704 (GRCm39)	V2678F	probably benign	Het
Cul7	T	A	17: 46,964,761 (GRCm39)	V131E	possibly damaging	Het
Dab2	T	C	15: 6,459,308 (GRCm39)	S407P	probably benign	Het
Dnah17	C	T	11: 118,017,997 (GRCm39)	G166D	probably benign	Het
F13b	G	A	1: 139,431,585 (GRCm39)	V52I	probably benign	Het
Gjd4	T	C	18: 9,280,549 (GRCm39)	I176M	probably benign	Het
Hoxc11	A	G	15: 102,863,436 (GRCm39)	Y159C	probably damaging	Het
Hydin	T	C	8: 111,026,642 (GRCm39)	I120T	possibly damaging	Het
Il20rb	A	G	9: 100,355,132 (GRCm39)	Y104H	probably damaging	Het
Krtap21-1	A	G	16: 89,200,430 (GRCm39)	C71R	unknown	Het
Lamc1	T	C	1: 153,138,353 (GRCm39)	D167G	probably benign	Het
Lin7c	C	A	2: 109,725,514 (GRCm39)	A73E	probably damaging	Het
Meiosin	T	C	7: 18,840,945 (GRCm39)	H63R	possibly damaging	Het
Mms22l	C	A	4: 24,588,224 (GRCm39)	A952E	probably damaging	Het
Myh3	A	G	11: 66,973,735 (GRCm39)	N136S	probably benign	Het
Ndufb10	T	C	17: 24,943,218 (GRCm39)	T31A	probably benign	Het
Nlrp2	T	C	7: 5,311,769 (GRCm39)	Y37C	possibly damaging	Het
Or2t44	T	C	11: 58,677,885 (GRCm39)	F275S	probably damaging	Het
Or2y14	T	C	11: 49,404,600 (GRCm39)	I45T	probably damaging	Het
Orc3	C	A	4: 34,607,130 (GRCm39)		probably null	Het
Pard3b	A	C	1: 62,250,792 (GRCm39)	M512L	probably damaging	Het
Pcdh10	A	G	3: 45,334,136 (GRCm39)	D150G	probably damaging	Het
Pcolce	A	T	5: 137,608,741 (GRCm39)		probably null	Het
Pdcl	A	C	2: 37,242,189 (GRCm39)	I187S	probably damaging	Het
Pkn1	T	C	8: 84,419,449 (GRCm39)	I51M	probably damaging	Het
Pla2g4e	T	A	2: 120,000,662 (GRCm39)	T692S	probably benign	Het
Plcb2	C	A	2: 118,549,022 (GRCm39)	V380F	probably damaging	Het
Pmpcb	A	T	5: 21,947,950 (GRCm39)	I218F	probably damaging	Het
Pms1	A	T	1: 53,234,196 (GRCm39)	Y773*	probably null	Het
Polr2e	C	T	10: 79,872,615 (GRCm39)	G184R	probably damaging	Het
Polr3a	T	C	14: 24,529,254 (GRCm39)	I369V	probably damaging	Het
Pramel21	C	T	4: 143,342,366 (GRCm39)	P158S	probably damaging	Het
Prpf4b	T	C	13: 35,068,014 (GRCm39)		probably benign	Het
Pzp	G	A	6: 128,500,939 (GRCm39)	Q140*	probably null	Het
Qrich2	T	A	11: 116,332,221 (GRCm39)	E2325V	probably damaging	Het
R3hdm2	T	G	10: 127,307,858 (GRCm39)	L373R	probably damaging	Het
Sema3d	A	T	5: 12,558,104 (GRCm39)	D212V	possibly damaging	Het
Sidt2	A	G	9: 45,850,565 (GRCm39)	I850T	probably damaging	Het
Slc22a29	C	T	19: 8,140,106 (GRCm39)	R433H	possibly damaging	Het
Slitrk6	A	T	14: 110,987,364 (GRCm39)	L781H	probably damaging	Het
Sox21	G	A	14: 118,473,354 (GRCm39)		probably benign	Het
Steap3	A	G	1: 120,155,379 (GRCm39)	*527R	probably null	Het
Svep1	T	C	4: 58,069,830 (GRCm39)	E2652G	possibly damaging	Het
Taar2	T	A	10: 23,817,389 (GRCm39)	F310I	probably damaging	Het
Tasor2	C	A	13: 3,625,550 (GRCm39)	V1467L	probably benign	Het
Tecta	A	G	9: 42,286,307 (GRCm39)	V783A	probably benign	Het
Vmn1r173	T	A	7: 23,401,822 (GRCm39)	I19N	probably damaging	Het
Vwa5b1	T	A	4: 138,332,190 (GRCm39)	M276L	probably benign	Het
Yeats2	A	C	16: 20,040,427 (GRCm39)	*142C	probably null	Het
Zfp26	G	T	9: 20,349,166 (GRCm39)	T466K	probably benign	Het
Zfp426	T	C	9: 20,382,432 (GRCm39)	N171S	probably benign	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
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
R7760:Clec4d	UTSW	6	123,247,300 (GRCm39)	missense	probably benign	0.01
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'- TGGGGAGATCAGCCCACTTTTCTAA -3'
(R):5'- ACTGTTCTCACAACATAGCTGCATCAA -3'

Sequencing Primer
(F):5'- GCCCACTTTTCTAAATTAATGGCTAC -3'
(R):5'- cccccccacacacacac -3'

Posted On

2013-04-16