Mutagenetix > Incidental Mutation

Incidental Mutation 'R0038:Clec11a'

18592

Institutional Source

Beutler Lab

Gene Symbol

Clec11a

Ensembl Gene

ENSMUSG00000004473

Gene Name

C-type lectin domain family 11, member a

Synonyms

Scgf, Clecsf3

MMRRC Submission

038332-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.076) question?

Stock #

R0038 (G1)

Quality Score

Status

Validated

Chromosome

Chromosomal Location

43953190-43956383 bp(-) (GRCm39)

Type of Mutation

unclassified

DNA Base Change (assembly)

A to G at 43955906 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000103571 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000004587] [ENSMUST00000107938]

AlphaFold

O88200

Predicted Effect

probably benign
Transcript: ENSMUST00000004587

SMART Domains

Protein: ENSMUSP00000004587
Gene: ENSMUSG00000004473

Domain	Start	End	E-Value	Type
signal peptide	1	21	N/A	INTRINSIC
low complexity region	75	93	N/A	INTRINSIC
low complexity region	95	109	N/A	INTRINSIC
CLECT	182	325	1.7e-13	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000107938

SMART Domains

Protein: ENSMUSP00000103571
Gene: ENSMUSG00000038738

Domain	Start	End	E-Value	Type
low complexity region	17	46	N/A	INTRINSIC
Pfam:FERM_f0	73	156	6.6e-17	PFAM
ANK	212	242	5.75e-1	SMART
ANK	246	275	3.6e-2	SMART
ANK	279	309	3.44e1	SMART
ANK	313	342	1.97e1	SMART
ANK	346	375	3.97e-4	SMART
ANK	379	407	5.69e2	SMART
low complexity region	452	479	N/A	INTRINSIC
low complexity region	487	504	N/A	INTRINSIC
low complexity region	521	548	N/A	INTRINSIC
SH3	557	612	3.73e-16	SMART
low complexity region	648	659	N/A	INTRINSIC
PDZ	672	761	2.12e-13	SMART
Blast:PDZ	804	839	5e-11	BLAST
low complexity region	929	950	N/A	INTRINSIC
low complexity region	964	991	N/A	INTRINSIC
low complexity region	1002	1032	N/A	INTRINSIC
low complexity region	1060	1089	N/A	INTRINSIC
low complexity region	1132	1147	N/A	INTRINSIC
low complexity region	1171	1184	N/A	INTRINSIC
low complexity region	1188	1229	N/A	INTRINSIC
low complexity region	1265	1284	N/A	INTRINSIC
low complexity region	1307	1332	N/A	INTRINSIC
low complexity region	1357	1368	N/A	INTRINSIC
low complexity region	1378	1413	N/A	INTRINSIC
low complexity region	1459	1475	N/A	INTRINSIC
low complexity region	1521	1541	N/A	INTRINSIC
low complexity region	1548	1564	N/A	INTRINSIC
low complexity region	1566	1579	N/A	INTRINSIC
low complexity region	1589	1623	N/A	INTRINSIC
low complexity region	1642	1676	N/A	INTRINSIC
low complexity region	1694	1729	N/A	INTRINSIC
low complexity region	1744	1755	N/A	INTRINSIC
low complexity region	1785	1796	N/A	INTRINSIC
low complexity region	1815	1832	N/A	INTRINSIC
low complexity region	1843	1861	N/A	INTRINSIC
low complexity region	1902	1916	N/A	INTRINSIC
low complexity region	1934	1945	N/A	INTRINSIC
low complexity region	1951	1985	N/A	INTRINSIC
low complexity region	1997	2013	N/A	INTRINSIC
low complexity region	2018	2038	N/A	INTRINSIC
low complexity region	2068	2092	N/A	INTRINSIC
SAM	2101	2167	1.35e-14	SMART

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 83.6%
3x: 76.1%
10x: 58.6%
20x: 40.4%

Validation Efficiency

91% (67/74)

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 superfamily. The encoded protein is a secreted sulfated glycoprotein and functions as a growth factor for primitive hematopoietic progenitor cells. An alternative splice variant has been described but its biological nature has not been determined. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit decreased bone volume in limb bones and vertebrae, reduced bone strength, and delayed fracture healing. Bone marrow stromal cells display impaired osteogenic differentiation. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 30 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Agfg1	T	C	1: 82,863,823 (GRCm39)		probably benign	Het
Ahnak2	T	C	12: 112,740,896 (GRCm39)	T253A	probably benign	Het
Ankrd28	A	T	14: 31,429,992 (GRCm39)	M892K	probably damaging	Het
Arhgef25	T	C	10: 127,022,734 (GRCm39)		probably benign	Het
Cldn8	A	G	16: 88,359,922 (GRCm39)	M1T	probably null	Het
Ddx39a	T	C	8: 84,449,127 (GRCm39)	L305P	probably damaging	Het
Depdc5	A	G	5: 33,026,197 (GRCm39)	E60G	probably benign	Het
Etl4	A	T	2: 20,748,385 (GRCm39)	H39L	probably damaging	Het
Gramd1b	G	A	9: 40,228,822 (GRCm39)	T252M	probably damaging	Het
Hcrtr2	A	T	9: 76,166,963 (GRCm39)	S125T	probably benign	Het
Htr2a	T	G	14: 74,943,687 (GRCm39)	S422R	probably benign	Het
Kirrel3	T	A	9: 34,823,066 (GRCm39)		probably null	Het
Krtap9-5	G	A	11: 99,839,428 (GRCm39)	C43Y	possibly damaging	Het
Lama2	T	C	10: 26,862,793 (GRCm39)	D2990G	probably benign	Het
Ncor1	A	G	11: 62,283,377 (GRCm39)	F437L	probably damaging	Het
Nlrp1b	A	G	11: 71,062,997 (GRCm39)	S685P	possibly damaging	Het
Oog4	T	C	4: 143,165,514 (GRCm39)	D211G	probably benign	Het
Pcdh15	A	T	10: 74,479,272 (GRCm39)	E723V	possibly damaging	Het
Pgm3	A	T	9: 86,446,726 (GRCm39)		probably benign	Het
Pnpla5	A	G	15: 84,006,714 (GRCm39)	Y90H	probably damaging	Het
Polr1b	C	T	2: 128,957,588 (GRCm39)	R548*	probably null	Het
Rnf168	T	C	16: 32,117,813 (GRCm39)	V458A	probably benign	Het
Rnf32	T	C	5: 29,410,652 (GRCm39)		probably benign	Het
Sclt1	T	C	3: 41,583,943 (GRCm39)		probably benign	Het
Serpina12	A	G	12: 104,004,216 (GRCm39)	F139L	probably damaging	Het
Stag3	T	A	5: 138,299,298 (GRCm39)		probably null	Het
Stard5	T	C	7: 83,285,951 (GRCm39)		probably benign	Het
Suclg1	A	G	6: 73,237,486 (GRCm39)	E77G	probably benign	Het
Ush2a	G	T	1: 188,358,809 (GRCm39)	G2112C	probably benign	Het
Zfp644	T	G	5: 106,782,909 (GRCm39)	E1155A	probably benign	Het

Other mutations in Clec11a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R0038:Clec11a	UTSW	7	43,955,906 (GRCm39)	unclassified	probably benign
R1456:Clec11a	UTSW	7	43,955,874 (GRCm39)	missense	possibly damaging	0.63
R1944:Clec11a	UTSW	7	43,954,098 (GRCm39)	missense	probably benign	0.01
R5093:Clec11a	UTSW	7	43,954,150 (GRCm39)	missense	probably damaging	1.00
R5138:Clec11a	UTSW	7	43,954,062 (GRCm39)	missense	probably benign
R5642:Clec11a	UTSW	7	43,955,832 (GRCm39)	missense	possibly damaging	0.76
R6126:Clec11a	UTSW	7	43,954,345 (GRCm39)	missense	probably damaging	0.99
R7457:Clec11a	UTSW	7	43,955,379 (GRCm39)	missense	probably benign	0.22
R7513:Clec11a	UTSW	7	43,955,780 (GRCm39)	missense	probably benign	0.34
R8750:Clec11a	UTSW	7	43,955,323 (GRCm39)	missense	probably benign	0.19
R9155:Clec11a	UTSW	7	43,954,317 (GRCm39)	missense	probably damaging	1.00
R9345:Clec11a	UTSW	7	43,956,189 (GRCm39)	start codon destroyed	probably null	0.89
X0017:Clec11a	UTSW	7	43,955,262 (GRCm39)	missense	probably damaging	1.00

Posted On

2013-03-25