Mutagenetix > Incidental Mutation

Incidental Mutation 'R7124:Colec10'

552232

Institutional Source

Beutler Lab

Gene Symbol

Colec10

Ensembl Gene

ENSMUSG00000038591

Gene Name

collectin sub-family member 10

Synonyms

CL-L1

MMRRC Submission

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7124 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

54410774-54466358 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 54462371 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 199 (V199A)

Ref Sequence

ENSEMBL: ENSMUSP00000037867 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000036737]

AlphaFold

Q8CF98

Predicted Effect

probably damaging
Transcript: ENSMUST00000036737
AA Change: V199A

PolyPhen 2 Score 0.968 (Sensitivity: 0.77; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000037867
Gene: ENSMUSG00000038591
AA Change: V199A

Domain	Start	End	E-Value	Type
signal peptide	1	27	N/A	INTRINSIC
Pfam:Collagen	44	96	1.4e-9	PFAM
Pfam:Collagen	65	123	4.3e-10	PFAM
CLECT	148	271	1.09e-16	SMART

Meta Mutation Damage Score

0.3126

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.2%

Validation Efficiency

97% (72/74)

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-lectin family, proteins that possess collagen-like sequences and carbohydrate recognition domains. The other members of this family are secreted proteins and bind to carbohydrate antigens on microorganisms facilitating their recognition and removal. This gene product is a cytosolic protein, a characteristic that suggests that it may have different biological functions than other C-lectins. [provided by RefSeq, Jul 2008]

Allele List at MGI

Other mutations in this stock

Total: 73 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700006A11Rik	A	C	3: 124,414,393	S212R	probably benign	Het
4930562C15Rik	T	C	16: 4,864,332	S170P	probably benign	Het
9330182O14Rik	G	A	15: 40,144,907	C59Y	unknown	Het
AA986860	A	G	1: 130,742,887	E282G	possibly damaging	Het
Adam1a	G	T	5: 121,519,334	T632K	probably benign	Het
Aspg	G	T	12: 112,122,983	A402S	probably damaging	Het
Capn7	C	T	14: 31,336,685		probably benign	Het
Card9	C	T	2: 26,356,884		probably null	Het
Cdh13	T	C	8: 118,968,173	V254A	probably damaging	Het
Copb2	T	C	9: 98,577,053	S283P	probably damaging	Het
Csmd1	G	T	8: 15,903,202	S3426R	probably damaging	Het
Cyp4f14	A	G	17: 32,914,588	V98A	probably benign	Het
Disp1	C	A	1: 183,087,466	R1130L	probably damaging	Het
Dysf	A	G	6: 84,190,901		probably null	Het
Eif4ebp1	T	C	8: 27,273,419	V80A	probably damaging	Het
Eloa	T	A	4: 136,009,141	I565F	probably damaging	Het
Espn	G	T	4: 152,131,264	H513N	probably benign	Het
Fam83c	C	T	2: 155,829,571	S648N	probably benign	Het
Fdxr	C	T	11: 115,269,577	V351M	probably benign	Het
Fras1	A	T	5: 96,714,401	D2213V	probably damaging	Het
Gbp4	T	A	5: 105,119,959	I474F	possibly damaging	Het
Gm11639	T	C	11: 104,738,274	F926S	probably benign	Het
Golgb1	T	C	16: 36,913,673	V1135A	probably benign	Het
Gpt2	G	A	8: 85,518,052	E325K	probably benign	Het
Hipk2	A	T	6: 38,818,478	Y285*	probably null	Het
Ifi27l2b	T	C	12: 103,451,320	I203V	probably damaging	Het
Itga10	T	A	3: 96,651,765	M390K	probably damaging	Het
Itgb8	G	T	12: 119,202,424	S124*	probably null	Het
Klhdc10	T	A	6: 30,441,827	F173I	probably damaging	Het
Kng2	T	G	16: 23,012,055	N168T	probably damaging	Het
Krtap24-1	T	C	16: 88,611,546	T231A	probably damaging	Het
Lbx2	A	T	6: 83,088,064	D194V	probably damaging	Het
Lrrc39	C	A	3: 116,565,913	Q36K	probably benign	Het
Madd	T	C	2: 91,162,048	E1093G	possibly damaging	Het
Mfap3l	A	G	8: 60,671,269	T182A	probably damaging	Het
Myo9b	T	A	8: 71,333,701	Y670*	probably null	Het
Nbea	A	G	3: 55,992,444	L1428P	probably damaging	Het
Nkx2-3	T	C	19: 43,614,806	Y284H	possibly damaging	Het
Nphp4	A	G	4: 152,555,684	D1009G	probably benign	Het
Npy2r	G	A	3: 82,541,183	A95V	probably damaging	Het
Nuggc	A	G	14: 65,608,802	E70G	probably damaging	Het
Olfr1020	T	C	2: 85,849,910	S153P	probably benign	Het
Olfr1028	T	A	2: 85,951,473	S137T	possibly damaging	Het
Palld	A	T	8: 61,516,645	V1215D	unknown	Het
Pard6g	T	C	18: 80,117,125	I151T	possibly damaging	Het
Parp12	T	C	6: 39,111,736	I189V	probably benign	Het
Parp4	A	G	14: 56,602,799	I554V	probably benign	Het
Pcnx2	G	A	8: 125,753,617	P1984S	probably damaging	Het
Piwil4	T	C	9: 14,736,900	M128V	probably benign	Het
Polr2a	C	A	11: 69,737,462	E1302*	probably null	Het
Psg17	C	A	7: 18,814,496	G450V	probably damaging	Het
Psg17	C	G	7: 18,814,497	G450R	probably damaging	Het
Rag1	T	C	2: 101,643,783	E338G	probably damaging	Het
Rev3l	A	T	10: 39,822,167	K887*	probably null	Het
Rragd	T	C	4: 32,996,027	F124S	possibly damaging	Het
Scube1	A	T	15: 83,629,511		probably null	Het
Sfpq	A	T	4: 127,025,932	D490V	possibly damaging	Het
Smc1b	G	T	15: 85,071,597	Q1034K	probably damaging	Het
Smg7	T	C	1: 152,878,080	N5S	probably benign	Het
Spata31d1a	A	C	13: 59,702,487	L609R	probably damaging	Het
Ssh2	A	G	11: 77,454,338	K1050E	probably benign	Het
Stab1	G	A	14: 31,160,867	T393I	possibly damaging	Het
Sult2a4	C	T	7: 13,988,395	W49*	probably null	Het
Thrap3	A	T	4: 126,180,438	S172T	unknown	Het
Tmem130	A	G	5: 144,750,911	V205A	probably damaging	Het
Ube2d2b	A	G	5: 107,830,851	I123V	probably benign	Het
Unc79	G	T	12: 103,061,393	L414F	probably damaging	Het
Vmn2r30	C	T	7: 7,334,184	S151N	probably benign	Het
Vmn2r54	T	A	7: 12,622,151	T443S	probably benign	Het
Zfp229	T	A	17: 21,742,616	S51T	probably damaging	Het
Zfp617	T	C	8: 71,932,540	L238P	probably damaging	Het
Zfp707	T	A	15: 75,973,549	C87*	probably null	Het
Zfp853	T	C	5: 143,289,607	K101R	unknown	Het

Other mutations in Colec10

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01313:Colec10	APN	15	54459761	missense	probably damaging	0.98
BB002:Colec10	UTSW	15	54462371	missense	probably damaging	0.97
BB012:Colec10	UTSW	15	54462371	missense	probably damaging	0.97
R0004:Colec10	UTSW	15	54410875	missense	possibly damaging	0.57
R0060:Colec10	UTSW	15	54439146	splice site	probably benign
R0060:Colec10	UTSW	15	54439146	splice site	probably benign
R0827:Colec10	UTSW	15	54462584	missense	probably damaging	1.00
R1238:Colec10	UTSW	15	54462439	missense	possibly damaging	0.75
R1551:Colec10	UTSW	15	54462262	missense	probably damaging	1.00
R2371:Colec10	UTSW	15	54462400	missense	possibly damaging	0.84
R4023:Colec10	UTSW	15	54462551	missense	probably damaging	1.00
R4024:Colec10	UTSW	15	54462551	missense	probably damaging	1.00
R4628:Colec10	UTSW	15	54459731	missense	possibly damaging	0.68
R5893:Colec10	UTSW	15	54410789	missense	probably benign	0.18
R6062:Colec10	UTSW	15	54459807	missense	possibly damaging	0.93
R6489:Colec10	UTSW	15	54462213	splice site	probably null
R6775:Colec10	UTSW	15	54435023	missense	possibly damaging	0.95
R6928:Colec10	UTSW	15	54462606	missense	probably damaging	1.00
R7925:Colec10	UTSW	15	54462371	missense	probably damaging	0.97
R8208:Colec10	UTSW	15	54462300	missense	possibly damaging	0.62
R8363:Colec10	UTSW	15	54410842	missense	probably benign
R8691:Colec10	UTSW	15	54435024	missense	probably benign	0.01
R9495:Colec10	UTSW	15	54462365	missense	probably damaging	0.97
R9712:Colec10	UTSW	15	54459784	missense	possibly damaging	0.77
RF003:Colec10	UTSW	15	54462391	missense	possibly damaging	0.50

Predicted Primers

PCR Primer
(F):5'- AGCGCATTGAAATGTGACAGTG -3'
(R):5'- TGCCAGAGCTCAACATCTCC -3'

Sequencing Primer
(F):5'- CTTCTTGTACTGAGACACATTATGG -3'
(R):5'- ATCTCCACACAGTCCTCATGG -3'

Posted On

2019-05-15