Mutagenetix > Incidental Mutation

Incidental Mutation 'R5903:Clec4d'

456445

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

044101-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5903 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

123239070-123252224 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 123244020 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Arginine at position 43 (H43R)

Ref Sequence

ENSEMBL: ENSMUSP00000032240 (fasta)

Gene Model

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

AlphaFold

Q9Z2H6

Predicted Effect

probably damaging
Transcript: ENSMUST00000032240
AA Change: H43R

PolyPhen 2 Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000032240
Gene: ENSMUSG00000030144
AA Change: H43R

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

possibly damaging
Transcript: ENSMUST00000204826
AA Change: H43R

PolyPhen 2 Score 0.915 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000145134
Gene: ENSMUSG00000030144
AA Change: H43R

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

Meta Mutation Damage Score

0.4025

Coding Region Coverage

1x: 99.9%
3x: 99.5%
10x: 97.6%
20x: 92.8%

Validation Efficiency

98% (58/59)

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: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9130230L23Rik	A	G	5: 66,145,661 (GRCm39)	V150A	unknown	Het
Abraxas1	T	C	5: 100,965,824 (GRCm39)		probably null	Het
Actl7a	G	T	4: 56,743,827 (GRCm39)	R118L	probably damaging	Het
Atg2b	T	C	12: 105,605,618 (GRCm39)	D1449G	possibly damaging	Het
Atg7	G	A	6: 114,683,254 (GRCm39)	W439*	probably null	Het
Atp6v0a2	T	A	5: 124,789,343 (GRCm39)	I370N	probably damaging	Het
B4galt1	T	C	4: 40,807,760 (GRCm39)	D347G	probably damaging	Het
Baz2b	C	T	2: 59,790,233 (GRCm39)	C660Y	probably damaging	Het
Ccdc88c	T	C	12: 100,896,801 (GRCm39)	Y1390C	probably damaging	Het
Cdcp1	G	A	9: 123,002,837 (GRCm39)	Q745*	probably null	Het
Cep97	G	A	16: 55,739,889 (GRCm39)	S185L	probably damaging	Het
Cntn3	T	A	6: 102,219,094 (GRCm39)	M509L	probably benign	Het
Cntrob	A	C	11: 69,200,201 (GRCm39)	S564R	possibly damaging	Het
Cyp2j8	T	A	4: 96,395,514 (GRCm39)	N37I	possibly damaging	Het
Edc4	A	G	8: 106,617,219 (GRCm39)	T1029A	probably benign	Het
Fhip2b	A	T	14: 70,829,121 (GRCm39)	V64E	probably damaging	Het
Fmnl1	G	T	11: 103,062,270 (GRCm39)		probably null	Het
Fzd6	T	A	15: 38,870,783 (GRCm39)	M1K	probably null	Het
Gle1	C	A	2: 29,830,293 (GRCm39)	T283N	probably benign	Het
Hsd17b14	T	C	7: 45,215,386 (GRCm39)	V161A	probably damaging	Het
Hsf2	T	C	10: 57,380,819 (GRCm39)	S218P	probably benign	Het
Ipo7	T	A	7: 109,650,020 (GRCm39)	C736S	probably damaging	Het
Itpkb	G	T	1: 180,241,540 (GRCm39)	V737L	probably damaging	Het
Itpr1	T	C	6: 108,466,758 (GRCm39)		probably benign	Het
Kcnh8	G	T	17: 53,110,364 (GRCm39)	V192L	possibly damaging	Het
Kctd10	G	A	5: 114,518,523 (GRCm39)		probably benign	Het
Kdm3a	C	A	6: 71,609,234 (GRCm39)		probably benign	Het
Kif5a	T	A	10: 127,066,447 (GRCm39)	M990L	probably benign	Het
Klf12	A	G	14: 100,260,124 (GRCm39)	S202P	probably damaging	Het
Krt81	T	G	15: 101,358,083 (GRCm39)	Q390P	probably damaging	Het
Lrig3	T	C	10: 125,844,347 (GRCm39)	S604P	probably damaging	Het
Ms4a1	A	T	19: 11,235,612 (GRCm39)	V48D	probably damaging	Het
Mta1	C	T	12: 113,100,239 (GRCm39)	P688L	probably damaging	Het
Oas1h	T	C	5: 121,009,040 (GRCm39)	V250A	probably damaging	Het
Or10c1	A	T	17: 37,521,912 (GRCm39)	Y277*	probably null	Het
Or52z13	G	T	7: 103,247,128 (GRCm39)	G202*	probably null	Het
P2rx3	T	C	2: 84,831,071 (GRCm39)	E265G	possibly damaging	Het
Pdzd8	A	G	19: 59,333,718 (GRCm39)	I101T	possibly damaging	Het
Psme4	A	T	11: 30,791,589 (GRCm39)	N1148I	probably benign	Het
Rnf213	T	C	11: 119,312,195 (GRCm39)	L874P	probably damaging	Het
Sart3	T	C	5: 113,889,300 (GRCm39)	Y508C	probably damaging	Het
Sez6l2	T	C	7: 126,569,305 (GRCm39)		probably benign	Het
Slc9b1	C	T	3: 135,098,655 (GRCm39)		probably benign	Het
Stmn3	T	C	2: 180,950,573 (GRCm39)	K78E	possibly damaging	Het
Thsd4	T	A	9: 60,301,389 (GRCm39)	N302I	possibly damaging	Het
Trdv5	A	T	14: 54,386,242 (GRCm39)	H74Q	probably benign	Het
Tubb4b	C	T	2: 25,113,993 (GRCm39)	R77H	probably benign	Het
Ugt1a6a	C	T	1: 88,142,845 (GRCm39)	P113L	probably damaging	Het
Unc5a	T	A	13: 55,147,503 (GRCm39)	C438S	possibly damaging	Het
Zan	C	A	5: 137,440,396 (GRCm39)	C1946F	unknown	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
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'- GTGCACTTAAAAGGTTCCAAAAGTTCC -3'
(R):5'- TGCAGCCAGTTCTCATTCTG -3'

Sequencing Primer
(F):5'- GGTTCCAAAAGTTCCAATGTAAATC -3'
(R):5'- TCTGACAGATGCTATCTAAAGGCTGG -3'

Posted On

2017-02-15