Mutagenetix > Incidental Mutation

Incidental Mutation 'R1264:Clec10a'

151120

Institutional Source

Beutler Lab

Gene Symbol

Clec10a

Ensembl Gene

ENSMUSG00000000318

Gene Name

C-type lectin domain family 10, member A

Synonyms

CD301a, Mgl1

MMRRC Submission

039331-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1264 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

70057449-70061662 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 70060567 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Threonine at position 103 (S103T)

Ref Sequence

ENSEMBL: ENSMUSP00000136500 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000000327] [ENSMUST00000102571] [ENSMUST00000144935] [ENSMUST00000152635] [ENSMUST00000153959] [ENSMUST00000178945] [ENSMUST00000178567]

AlphaFold

P49300

Predicted Effect

possibly damaging
Transcript: ENSMUST00000000327
AA Change: S141T

PolyPhen 2 Score 0.949 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000000327
Gene: ENSMUSG00000000318
AA Change: S141T

Domain	Start	End	E-Value	Type
Pfam:Lectin_N	1	164	8.5e-64	PFAM
CLECT	174	298	1.24e-38	SMART

Predicted Effect

possibly damaging
Transcript: ENSMUST00000102571
AA Change: S140T

PolyPhen 2 Score 0.912 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000099631
Gene: ENSMUSG00000000318
AA Change: S140T

Domain	Start	End	E-Value	Type
Pfam:Lectin_N	1	163	3.9e-65	PFAM
CLECT	173	297	1.24e-38	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000143298

Predicted Effect

possibly damaging
Transcript: ENSMUST00000144935
AA Change: S103T

PolyPhen 2 Score 0.949 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000136500
Gene: ENSMUSG00000000318
AA Change: S103T

Domain	Start	End	E-Value	Type
Pfam:Lectin_N	19	126	2e-35	PFAM
CLECT	136	212	1.16e-6	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000150966

Predicted Effect

probably benign
Transcript: ENSMUST00000152635

Predicted Effect

possibly damaging
Transcript: ENSMUST00000153959
AA Change: S18T

PolyPhen 2 Score 0.902 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000117772
Gene: ENSMUSG00000000318
AA Change: S18T

Domain	Start	End	E-Value	Type
Pfam:Lectin_N	1	41	6e-19	PFAM
Pfam:Lectin_C	68	102	2.3e-6	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000178945
AA Change: S141T

PolyPhen 2 Score 0.912 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000137447
Gene: ENSMUSG00000000318
AA Change: S141T

Domain	Start	End	E-Value	Type
Pfam:Lectin_N	7	164	3.6e-51	PFAM
CLECT	174	292	1e-24	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000180106

Predicted Effect

probably benign
Transcript: ENSMUST00000178567

SMART Domains

Protein: ENSMUSP00000136322
Gene: ENSMUSG00000000318

Domain	Start	End	E-Value	Type
Pfam:Lectin_N	1	57	1.5e-26	PFAM

Meta Mutation Damage Score

0.1795

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.2%
20x: 95.1%

Validation Efficiency

100% (35/35)

MGI Phenotype

PHENOTYPE: Homozygotes for a targeted null mutation exhibit elevated red blood cell counts but appear to be otherwise normal. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 34 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc9	T	C	6: 142,592,103 (GRCm39)		probably benign	Het
Acadl	A	T	1: 66,896,712 (GRCm39)	C27S	probably benign	Het
Adgrb3	C	T	1: 25,598,931 (GRCm39)	G258E	probably damaging	Het
Akna	T	C	4: 63,299,962 (GRCm39)		probably null	Het
Angpt2	T	C	8: 18,791,233 (GRCm39)	N21S	probably benign	Het
Ano6	A	G	15: 95,847,447 (GRCm39)	Y585C	probably damaging	Het
Ascc3	A	T	10: 50,518,615 (GRCm39)		probably benign	Het
Clstn2	T	C	9: 97,339,662 (GRCm39)	R770G	probably benign	Het
Cndp2	C	A	18: 84,696,916 (GRCm39)	C95F	possibly damaging	Het
Col12a1	A	G	9: 79,527,371 (GRCm39)	V2653A	probably benign	Het
Col4a3	A	T	1: 82,621,022 (GRCm39)		probably benign	Het
Daam1	A	G	12: 72,022,085 (GRCm39)		probably benign	Het
H2-M9	A	G	17: 36,953,484 (GRCm39)	V18A	probably benign	Het
Heatr1	T	A	13: 12,439,491 (GRCm39)		probably benign	Het
Impg1	T	C	9: 80,221,675 (GRCm39)	D715G	probably benign	Het
Incenp	T	C	19: 9,861,379 (GRCm39)	K425E	unknown	Het
Kif13b	T	C	14: 65,013,681 (GRCm39)		probably benign	Het
Msh2	T	A	17: 88,014,607 (GRCm39)		probably null	Het
Myh2	A	G	11: 67,071,604 (GRCm39)	N474D	probably damaging	Het
Myo18b	T	C	5: 112,978,185 (GRCm39)	T1246A	probably benign	Het
Nob1	T	C	8: 108,148,136 (GRCm39)	H102R	probably damaging	Het
Or4z4	G	T	19: 12,076,198 (GRCm39)	D268E	probably benign	Het
Pard3b	A	T	1: 62,203,316 (GRCm39)	I415F	probably damaging	Het
Pfkl	T	G	10: 77,829,250 (GRCm39)	K386T	possibly damaging	Het
Plekhs1	T	C	19: 56,474,195 (GRCm39)	V447A	probably benign	Het
Poli	C	T	18: 70,650,574 (GRCm39)	V266I	probably benign	Het
Rapgef4	A	T	2: 71,861,449 (GRCm39)	K46N	possibly damaging	Het
Shisa6	T	C	11: 66,265,975 (GRCm39)		probably benign	Het
Six3	T	A	17: 85,929,285 (GRCm39)	D206E	probably damaging	Het
Slc12a1	A	T	2: 125,060,158 (GRCm39)	E944D	possibly damaging	Het
Sptb	A	G	12: 76,659,381 (GRCm39)	F1173S	probably damaging	Het
Tfdp1	C	A	8: 13,423,837 (GRCm39)		probably benign	Het
Trrap	A	G	5: 144,726,409 (GRCm39)		probably benign	Het
Wbp11	A	G	6: 136,791,513 (GRCm39)		probably benign	Het

Other mutations in Clec10a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02932:Clec10a	APN	11	70,060,554 (GRCm39)	splice site	probably benign
IGL02945:Clec10a	APN	11	70,061,368 (GRCm39)	missense	possibly damaging	0.94
R1539:Clec10a	UTSW	11	70,060,645 (GRCm39)	missense	probably damaging	1.00
R2113:Clec10a	UTSW	11	70,060,650 (GRCm39)	critical splice donor site	probably null
R2567:Clec10a	UTSW	11	70,060,358 (GRCm39)	critical splice donor site	probably null
R4597:Clec10a	UTSW	11	70,060,806 (GRCm39)	missense	probably damaging	1.00
R4907:Clec10a	UTSW	11	70,060,797 (GRCm39)	missense	probably benign	0.25
R4913:Clec10a	UTSW	11	70,060,851 (GRCm39)	missense	probably damaging	1.00
R6577:Clec10a	UTSW	11	70,061,436 (GRCm39)	missense	probably benign	0.08
R7538:Clec10a	UTSW	11	70,060,604 (GRCm39)	missense	probably benign	0.39
R8184:Clec10a	UTSW	11	70,060,642 (GRCm39)	missense	probably damaging	0.99
R9407:Clec10a	UTSW	11	70,060,155 (GRCm39)	missense	probably damaging	1.00
R9596:Clec10a	UTSW	11	70,059,973 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TCAAAACAGGTGAGGCTGAGGTTC -3'
(R):5'- TTCATGCTCCGTCCAGTGAAGC -3'

Sequencing Primer
(F):5'- GAGGTTCCTTCTGTGCCCTG -3'
(R):5'- TTCCGAGCCTACGAAAAGC -3'

Posted On

2014-01-29