Mutagenetix > Incidental Mutation

Incidental Mutation 'R5642:Clec11a'

440747

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

043290-MU

Accession Numbers

Essential gene?

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

Stock #

R5642 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

43953190-43956383 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 43955832 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Lysine at position 72 (E72K)

Ref Sequence

ENSEMBL: ENSMUSP00000004587 (fasta)

Gene Model

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

AlphaFold

O88200

Predicted Effect

possibly damaging
Transcript: ENSMUST00000004587
AA Change: E72K

PolyPhen 2 Score 0.759 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000004587
Gene: ENSMUSG00000004473
AA Change: E72K

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

Coding Region Coverage

1x: 99.3%
3x: 98.6%
10x: 97.1%
20x: 94.8%

Validation Efficiency

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: 93 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc1	A	G	16: 14,261,319 (GRCm39)	E699G	probably damaging	Het
Ap4e1	T	A	2: 126,906,899 (GRCm39)	V1053D	possibly damaging	Het
Apobec1	T	A	6: 122,558,456 (GRCm39)	I100F	probably damaging	Het
Atp6v1g3	G	T	1: 138,211,480 (GRCm39)	K53N	probably damaging	Het
Bag3	C	T	7: 128,147,830 (GRCm39)	R482W	probably damaging	Het
Brme1	C	T	8: 84,894,114 (GRCm39)	T427I	probably damaging	Het
Cacna1i	A	G	15: 80,279,279 (GRCm39)	T2007A	possibly damaging	Het
Cd44	T	C	2: 102,731,687 (GRCm39)	D2G	probably damaging	Het
Cdadc1	T	A	14: 59,827,372 (GRCm39)	I100F	possibly damaging	Het
Cdh16	A	G	8: 105,344,677 (GRCm39)	F485L	probably damaging	Het
Cdhr5	T	A	7: 140,849,110 (GRCm39)	K817*	probably null	Het
Cfap46	G	T	7: 139,258,493 (GRCm39)	P260Q	probably damaging	Het
Cnr2	C	A	4: 135,644,076 (GRCm39)	N51K	probably damaging	Het
Col3a1	T	A	1: 45,370,872 (GRCm39)		probably benign	Het
Cxcr1	G	A	1: 74,230,987 (GRCm39)	T345M	probably damaging	Het
Cyp2s1	T	C	7: 25,515,744 (GRCm39)		probably null	Het
Dalrd3	C	T	9: 108,449,489 (GRCm39)	T474M	probably damaging	Het
Ddit4	C	T	10: 59,787,327 (GRCm39)	S3N	probably benign	Het
Ddx41	T	C	13: 55,683,708 (GRCm39)	K108E	possibly damaging	Het
Dnaaf10	A	G	11: 17,177,263 (GRCm39)	N207S	possibly damaging	Het
Ece2	A	T	16: 20,462,477 (GRCm39)	H732L	probably benign	Het
Etv3	T	G	3: 87,443,322 (GRCm39)	L302R	possibly damaging	Het
Fam135b	A	G	15: 71,333,985 (GRCm39)	S1070P	probably damaging	Het
Fhip1b	A	T	7: 105,039,089 (GRCm39)	I50N	probably damaging	Het
Gm11567	T	A	11: 99,770,437 (GRCm39)	I125N	unknown	Het
Grm3	A	G	5: 9,620,536 (GRCm39)	L236P	probably benign	Het
Hip1	T	A	5: 135,461,939 (GRCm39)	R97*	probably null	Het
Hoxa5	T	C	6: 52,181,197 (GRCm39)	Y45C	probably damaging	Het
Ighg1	T	A	12: 113,292,654 (GRCm39)	H305L	probably damaging	Het
Inpp5b	T	A	4: 124,676,229 (GRCm39)	C362S	probably benign	Het
Kif1c	A	G	11: 70,599,273 (GRCm39)	K391E	probably benign	Het
Klf9	T	C	19: 23,119,246 (GRCm39)	V43A	probably benign	Het
Krt28	T	A	11: 99,265,320 (GRCm39)	I116F	probably damaging	Het
Lct	A	T	1: 128,222,969 (GRCm39)	D1439E	probably damaging	Het
Liph	G	A	16: 21,784,745 (GRCm39)	T284M	possibly damaging	Het
Lrrc75b	T	C	10: 75,393,055 (GRCm39)	K98R	possibly damaging	Het
Lypd4	T	C	7: 24,564,604 (GRCm39)	Q178R	probably benign	Het
Map1a	T	A	2: 121,136,524 (GRCm39)	S2209T	probably damaging	Het
Map3k21	C	T	8: 126,665,563 (GRCm39)	T584I	probably benign	Het
Map3k6	T	C	4: 132,972,855 (GRCm39)	V338A	probably damaging	Het
Mapk8ip3	A	T	17: 25,122,285 (GRCm39)	V699E	possibly damaging	Het
Mtarc1	A	C	1: 184,543,116 (GRCm39)	S71A	probably damaging	Het
Nckap1l	T	C	15: 103,363,452 (GRCm39)	S53P	probably benign	Het
Nt5e	T	C	9: 88,209,740 (GRCm39)	M1T	probably null	Het
Nudt22	T	C	19: 6,972,896 (GRCm39)	H64R	probably damaging	Het
Or1o11	A	T	17: 37,756,663 (GRCm39)	T84S	probably damaging	Het
Or2t44	A	T	11: 58,677,654 (GRCm39)	Y198F	probably damaging	Het
Or2w3	T	C	11: 58,557,225 (GRCm39)	I280T	possibly damaging	Het
Or52b1	A	T	7: 104,978,772 (GRCm39)	V209D	probably damaging	Het
Or5ac16	A	G	16: 59,022,369 (GRCm39)	L140P	probably damaging	Het
Or8k17	T	C	2: 86,066,276 (GRCm39)	N294S	probably damaging	Het
Otogl	T	C	10: 107,722,413 (GRCm39)	I314V	probably benign	Het
Pan2	G	T	10: 128,143,969 (GRCm39)	E106D	probably benign	Het
Papss1	T	A	3: 131,337,565 (GRCm39)	Y554*	probably null	Het
Pcnx1	T	C	12: 81,941,803 (GRCm39)	V67A	possibly damaging	Het
Pdpk1	A	C	17: 24,325,829 (GRCm39)	Y122*	probably null	Het
Pkd1l1	A	T	11: 8,829,202 (GRCm39)	N1463K	probably damaging	Het
Ptgfrn	C	A	3: 100,950,678 (GRCm39)	M878I	probably damaging	Het
Ranbp3	G	A	17: 57,017,703 (GRCm39)	G453E	probably benign	Het
Rapgef2	T	C	3: 79,002,157 (GRCm39)	D261G	probably damaging	Het
Reep2	A	G	18: 34,979,271 (GRCm39)	S199G	probably benign	Het
Rnpep	G	A	1: 135,205,259 (GRCm39)	T202I	probably damaging	Het
Sass6	T	A	3: 116,401,145 (GRCm39)		probably null	Het
Sema3e	A	G	5: 14,212,257 (GRCm39)	D111G	probably damaging	Het
Slc29a4	A	G	5: 142,697,727 (GRCm39)	E60G	probably damaging	Het
Spata31g1	T	C	4: 42,971,831 (GRCm39)	L388P	possibly damaging	Het
Spata31h1	T	A	10: 82,120,317 (GRCm39)	Q4231L	probably damaging	Het
Sptlc3	T	C	2: 139,388,328 (GRCm39)	Y107H	probably damaging	Het
Stx6	T	C	1: 155,073,925 (GRCm39)	I245T	probably benign	Het
Syne2	T	C	12: 75,965,306 (GRCm39)	S774P	probably damaging	Het
Tbc1d16	T	A	11: 119,049,617 (GRCm39)	Q293L	probably damaging	Het
Tbc1d30	T	C	10: 121,132,692 (GRCm39)	D224G	probably damaging	Het
Tbc1d32	T	A	10: 56,026,973 (GRCm39)	N759Y	possibly damaging	Het
Tdrd12	G	T	7: 35,210,725 (GRCm39)	A166E	probably damaging	Het
Tex14	A	G	11: 87,405,046 (GRCm39)	R653G	probably benign	Het
Them6	A	T	15: 74,593,654 (GRCm39)	R171W	probably null	Het
Tln2	T	C	9: 67,203,640 (GRCm39)	T489A	probably benign	Het
Tmem87a	A	G	2: 120,234,427 (GRCm39)	F39L	probably benign	Het
Toporsl	T	A	4: 52,611,515 (GRCm39)	C469*	probably null	Het
Tpr	T	C	1: 150,299,569 (GRCm39)	S1147P	probably damaging	Het
Trp53bp1	T	C	2: 121,067,143 (GRCm39)	M528V	probably benign	Het
Trpm6	T	A	19: 18,807,571 (GRCm39)	C1039S	probably damaging	Het
Ttc16	T	A	2: 32,665,348 (GRCm39)	S5C	probably damaging	Het
Ttn	T	C	2: 76,617,412 (GRCm39)	Y14607C	probably damaging	Het
Usp6nl	T	C	2: 6,435,275 (GRCm39)	F345L	probably damaging	Het
Vmn1r205	C	T	13: 22,776,206 (GRCm39)	G299R	probably benign	Het
Vmn2r74	G	A	7: 85,606,588 (GRCm39)	H253Y	probably benign	Het
Vps13d	A	T	4: 144,896,872 (GRCm39)	D343E	possibly damaging	Het
Vwf	A	G	6: 125,580,381 (GRCm39)	E543G		Het
Zfat	A	T	15: 68,052,765 (GRCm39)	V343E	probably damaging	Het
Zfp316	T	C	5: 143,249,846 (GRCm39)	E139G	unknown	Het
Zfp943	T	A	17: 22,211,813 (GRCm39)	C300S	probably damaging	Het
Zkscan16	A	G	4: 58,957,748 (GRCm39)	K677E	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
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
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

Predicted Primers

PCR Primer
(F):5'- CTCTTGACAGGCAGACACATC -3'
(R):5'- CACTGTGGGCTTGAGATGAAG -3'

Sequencing Primer
(F):5'- GACCTTGGGCCCCTTTGATG -3'
(R):5'- GCTTGAGATGAAGTGTTCAGATG -3'

Posted On

2016-11-08