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

045212-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7124 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

54274170-54329754 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 54325767 bp (GRCm39)

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: 124,208,042 (GRCm39)	S212R	probably benign	Het
4930562C15Rik	T	C	16: 4,682,196 (GRCm39)	S170P	probably benign	Het
9330182O14Rik	G	A	15: 40,008,303 (GRCm39)	C59Y	unknown	Het
AA986860	A	G	1: 130,670,624 (GRCm39)	E282G	possibly damaging	Het
Adam1a	G	T	5: 121,657,397 (GRCm39)	T632K	probably benign	Het
Aspg	G	T	12: 112,089,417 (GRCm39)	A402S	probably damaging	Het
Capn7	C	T	14: 31,058,642 (GRCm39)		probably benign	Het
Card9	C	T	2: 26,246,896 (GRCm39)		probably null	Het
Cdh13	T	C	8: 119,694,912 (GRCm39)	V254A	probably damaging	Het
Copb2	T	C	9: 98,459,106 (GRCm39)	S283P	probably damaging	Het
Csmd1	G	T	8: 15,953,202 (GRCm39)	S3426R	probably damaging	Het
Cyp4f14	A	G	17: 33,133,562 (GRCm39)	V98A	probably benign	Het
Disp1	C	A	1: 182,869,030 (GRCm39)	R1130L	probably damaging	Het
Dysf	A	G	6: 84,167,883 (GRCm39)		probably null	Het
Efcab3	T	C	11: 104,629,100 (GRCm39)	F926S	probably benign	Het
Eif4ebp1	T	C	8: 27,763,447 (GRCm39)	V80A	probably damaging	Het
Eloa	T	A	4: 135,736,452 (GRCm39)	I565F	probably damaging	Het
Espn	G	T	4: 152,215,721 (GRCm39)	H513N	probably benign	Het
Fam83c	C	T	2: 155,671,491 (GRCm39)	S648N	probably benign	Het
Fdxr	C	T	11: 115,160,403 (GRCm39)	V351M	probably benign	Het
Fras1	A	T	5: 96,862,260 (GRCm39)	D2213V	probably damaging	Het
Gbp4	T	A	5: 105,267,825 (GRCm39)	I474F	possibly damaging	Het
Golgb1	T	C	16: 36,734,035 (GRCm39)	V1135A	probably benign	Het
Gpt2	G	A	8: 86,244,681 (GRCm39)	E325K	probably benign	Het
Hipk2	A	T	6: 38,795,413 (GRCm39)	Y285*	probably null	Het
Ifi27l2b	T	C	12: 103,417,579 (GRCm39)	I203V	probably damaging	Het
Itga10	T	A	3: 96,559,081 (GRCm39)	M390K	probably damaging	Het
Itgb8	G	T	12: 119,166,159 (GRCm39)	S124*	probably null	Het
Klhdc10	T	A	6: 30,441,826 (GRCm39)	F173I	probably damaging	Het
Kng2	T	G	16: 22,830,805 (GRCm39)	N168T	probably damaging	Het
Krtap24-1	T	C	16: 88,408,434 (GRCm39)	T231A	probably damaging	Het
Lbx2	A	T	6: 83,065,045 (GRCm39)	D194V	probably damaging	Het
Lrrc39	C	A	3: 116,359,562 (GRCm39)	Q36K	probably benign	Het
Madd	T	C	2: 90,992,393 (GRCm39)	E1093G	possibly damaging	Het
Mfap3l	A	G	8: 61,124,303 (GRCm39)	T182A	probably damaging	Het
Myo9b	T	A	8: 71,786,345 (GRCm39)	Y670*	probably null	Het
Nbea	A	G	3: 55,899,865 (GRCm39)	L1428P	probably damaging	Het
Nkx2-3	T	C	19: 43,603,245 (GRCm39)	Y284H	possibly damaging	Het
Nphp4	A	G	4: 152,640,141 (GRCm39)	D1009G	probably benign	Het
Npy2r	G	A	3: 82,448,490 (GRCm39)	A95V	probably damaging	Het
Nuggc	A	G	14: 65,846,251 (GRCm39)	E70G	probably damaging	Het
Or5ap2	T	C	2: 85,680,254 (GRCm39)	S153P	probably benign	Het
Or5m11	T	A	2: 85,781,817 (GRCm39)	S137T	possibly damaging	Het
Palld	A	T	8: 61,969,679 (GRCm39)	V1215D	unknown	Het
Pard6g	T	C	18: 80,160,340 (GRCm39)	I151T	possibly damaging	Het
Parp12	T	C	6: 39,088,670 (GRCm39)	I189V	probably benign	Het
Parp4	A	G	14: 56,840,256 (GRCm39)	I554V	probably benign	Het
Pcnx2	G	A	8: 126,480,356 (GRCm39)	P1984S	probably damaging	Het
Piwil4	T	C	9: 14,648,196 (GRCm39)	M128V	probably benign	Het
Polr2a	C	A	11: 69,628,288 (GRCm39)	E1302*	probably null	Het
Psg17	C	A	7: 18,548,421 (GRCm39)	G450V	probably damaging	Het
Psg17	C	G	7: 18,548,422 (GRCm39)	G450R	probably damaging	Het
Rag1	T	C	2: 101,474,128 (GRCm39)	E338G	probably damaging	Het
Rev3l	A	T	10: 39,698,163 (GRCm39)	K887*	probably null	Het
Rragd	T	C	4: 32,996,027 (GRCm39)	F124S	possibly damaging	Het
Scube1	A	T	15: 83,513,712 (GRCm39)		probably null	Het
Sfpq	A	T	4: 126,919,725 (GRCm39)	D490V	possibly damaging	Het
Smc1b	G	T	15: 84,955,798 (GRCm39)	Q1034K	probably damaging	Het
Smg7	T	C	1: 152,753,831 (GRCm39)	N5S	probably benign	Het
Spata31d1a	A	C	13: 59,850,301 (GRCm39)	L609R	probably damaging	Het
Ssh2	A	G	11: 77,345,164 (GRCm39)	K1050E	probably benign	Het
Stab1	G	A	14: 30,882,824 (GRCm39)	T393I	possibly damaging	Het
Sult2a4	C	T	7: 13,722,320 (GRCm39)	W49*	probably null	Het
Thrap3	A	T	4: 126,074,231 (GRCm39)	S172T	unknown	Het
Tmem130	A	G	5: 144,687,721 (GRCm39)	V205A	probably damaging	Het
Ube2d2b	A	G	5: 107,978,717 (GRCm39)	I123V	probably benign	Het
Unc79	G	T	12: 103,027,652 (GRCm39)	L414F	probably damaging	Het
Vmn2r30	C	T	7: 7,337,183 (GRCm39)	S151N	probably benign	Het
Vmn2r54	T	A	7: 12,356,078 (GRCm39)	T443S	probably benign	Het
Zfp229	T	A	17: 21,961,597 (GRCm39)	S51T	probably damaging	Het
Zfp617	T	C	8: 72,686,384 (GRCm39)	L238P	probably damaging	Het
Zfp707	T	A	15: 75,845,398 (GRCm39)	C87*	probably null	Het
Zfp853	T	C	5: 143,275,362 (GRCm39)	K101R	unknown	Het

Other mutations in Colec10

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01313:Colec10	APN	15	54,323,157 (GRCm39)	missense	probably damaging	0.98
BB002:Colec10	UTSW	15	54,325,767 (GRCm39)	missense	probably damaging	0.97
BB012:Colec10	UTSW	15	54,325,767 (GRCm39)	missense	probably damaging	0.97
R0004:Colec10	UTSW	15	54,274,271 (GRCm39)	missense	possibly damaging	0.57
R0060:Colec10	UTSW	15	54,302,542 (GRCm39)	splice site	probably benign
R0060:Colec10	UTSW	15	54,302,542 (GRCm39)	splice site	probably benign
R0827:Colec10	UTSW	15	54,325,980 (GRCm39)	missense	probably damaging	1.00
R1238:Colec10	UTSW	15	54,325,835 (GRCm39)	missense	possibly damaging	0.75
R1551:Colec10	UTSW	15	54,325,658 (GRCm39)	missense	probably damaging	1.00
R2371:Colec10	UTSW	15	54,325,796 (GRCm39)	missense	possibly damaging	0.84
R4023:Colec10	UTSW	15	54,325,947 (GRCm39)	missense	probably damaging	1.00
R4024:Colec10	UTSW	15	54,325,947 (GRCm39)	missense	probably damaging	1.00
R4628:Colec10	UTSW	15	54,323,127 (GRCm39)	missense	possibly damaging	0.68
R5893:Colec10	UTSW	15	54,274,185 (GRCm39)	missense	probably benign	0.18
R6062:Colec10	UTSW	15	54,323,203 (GRCm39)	missense	possibly damaging	0.93
R6489:Colec10	UTSW	15	54,325,609 (GRCm39)	splice site	probably null
R6775:Colec10	UTSW	15	54,298,419 (GRCm39)	missense	possibly damaging	0.95
R6928:Colec10	UTSW	15	54,326,002 (GRCm39)	missense	probably damaging	1.00
R7925:Colec10	UTSW	15	54,325,767 (GRCm39)	missense	probably damaging	0.97
R8208:Colec10	UTSW	15	54,325,696 (GRCm39)	missense	possibly damaging	0.62
R8363:Colec10	UTSW	15	54,274,238 (GRCm39)	missense	probably benign
R8691:Colec10	UTSW	15	54,298,420 (GRCm39)	missense	probably benign	0.01
R9495:Colec10	UTSW	15	54,325,761 (GRCm39)	missense	probably damaging	0.97
R9712:Colec10	UTSW	15	54,323,180 (GRCm39)	missense	possibly damaging	0.77
RF003:Colec10	UTSW	15	54,325,787 (GRCm39)	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