Mutagenetix > Incidental Mutation

Incidental Mutation 'R4458:Clec18a'

330016

Institutional Source

Beutler Lab

Gene Symbol

Clec18a

Ensembl Gene

ENSMUSG00000033633

Gene Name

C-type lectin domain family 18, member A

Synonyms

Mrcl

MMRRC Submission

041718-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.123) question?

Stock #

R4458 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

111796128-111819056 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 111802102 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Serine at position 296 (T296S)

Ref Sequence

ENSEMBL: ENSMUSP00000139515 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000039597] [ENSMUST00000186384] [ENSMUST00000188466] [ENSMUST00000190222] [ENSMUST00000190778] [ENSMUST00000191030] [ENSMUST00000191469]

AlphaFold

Q7TSQ1

Predicted Effect

probably damaging
Transcript: ENSMUST00000039597
AA Change: T296S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000046546
Gene: ENSMUSG00000033633
AA Change: T296S

Domain	Start	End	E-Value	Type
low complexity region	85	96	N/A	INTRINSIC
SCP	130	278	5.76e-19	SMART
EGF	312	349	5.32e-1	SMART
EGF_like	351	380	4.83e1	SMART
CLECT	385	521	4.65e-20	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000186384

Predicted Effect

possibly damaging
Transcript: ENSMUST00000188466
AA Change: T235S

PolyPhen 2 Score 0.935 (Sensitivity: 0.80; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000141073
Gene: ENSMUSG00000033633
AA Change: T235S

Domain	Start	End	E-Value	Type
signal peptide	1	53	N/A	INTRINSIC
SCP	69	217	2.8e-21	SMART
EGF	251	288	2.6e-3	SMART
EGF_like	290	319	2.4e-1	SMART
CLECT	324	460	2.3e-22	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000190222
AA Change: T235S

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000139634
Gene: ENSMUSG00000033633
AA Change: T235S

Domain	Start	End	E-Value	Type
signal peptide	1	53	N/A	INTRINSIC
SCP	69	217	2.8e-21	SMART
EGF	251	288	2.6e-3	SMART
EGF_like	290	319	2.4e-1	SMART
Pfam:Lectin_C	343	418	1.7e-4	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000190778

SMART Domains

Protein: ENSMUSP00000139789
Gene: ENSMUSG00000033633

Domain	Start	End	E-Value	Type
low complexity region	59	80	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000191030
AA Change: T266S

PolyPhen 2 Score 0.935 (Sensitivity: 0.80; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000139569
Gene: ENSMUSG00000033633
AA Change: T266S

Domain	Start	End	E-Value	Type
low complexity region	59	80	N/A	INTRINSIC
SCP	100	248	5.76e-19	SMART
EGF	282	319	5.32e-1	SMART
EGF_like	321	350	4.83e1	SMART
CLECT	355	491	4.65e-20	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000191469
AA Change: T296S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000139515
Gene: ENSMUSG00000033633
AA Change: T296S

Domain	Start	End	E-Value	Type
low complexity region	85	96	N/A	INTRINSIC
SCP	130	278	5.76e-19	SMART
EGF	312	349	5.32e-1	SMART
EGF_like	351	380	4.83e1	SMART
CLECT	385	521	4.65e-20	SMART

Coding Region Coverage

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

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A630076J17Rik	G	A	3: 107,139,997 (GRCm39)		probably null	Het
Akap13	A	G	7: 75,389,213 (GRCm39)	D2377G	probably damaging	Het
Ankrd44	A	T	1: 54,801,550 (GRCm39)	I56N	possibly damaging	Het
Apob	T	A	12: 8,065,445 (GRCm39)	I4105N	probably damaging	Het
Arhgap5	T	A	12: 52,564,740 (GRCm39)	N570K	probably benign	Het
Arid1b	A	T	17: 5,293,191 (GRCm39)	Q703L	probably damaging	Het
Atp4a	G	A	7: 30,419,650 (GRCm39)	R671Q	probably benign	Het
Cad	T	A	5: 31,218,570 (GRCm39)	V499D	probably damaging	Het
Cdkn2d	C	G	9: 21,202,185 (GRCm39)	V21L	probably benign	Het
Celsr2	A	C	3: 108,302,313 (GRCm39)	I2605S	probably damaging	Het
Chd6	T	A	2: 160,871,796 (GRCm39)	Y213F	possibly damaging	Het
Crybg2	C	T	4: 133,802,205 (GRCm39)	P1122S	probably benign	Het
Cyld	G	T	8: 89,445,929 (GRCm39)	S309I	probably benign	Het
Dctn5	G	T	7: 121,734,303 (GRCm39)	R49L	probably damaging	Het
Egr2	GAA	GA	10: 67,375,733 (GRCm39)		probably null	Het
Erbin	C	A	13: 103,970,065 (GRCm39)	V1184F	probably damaging	Het
Ercc2	G	T	7: 19,127,771 (GRCm39)	R406L	probably damaging	Het
Eya1	C	T	1: 14,253,420 (GRCm39)	V519M	probably damaging	Het
Flad1	T	C	3: 89,316,241 (GRCm39)	H107R	probably benign	Het
Fsip2	G	T	2: 82,821,120 (GRCm39)	A5618S	possibly damaging	Het
Gabbr1	G	T	17: 37,378,667 (GRCm39)		probably null	Het
Haghl	A	T	17: 26,003,994 (GRCm39)	V30E	probably damaging	Het
Itga5	C	T	15: 103,258,630 (GRCm39)	E822K	probably damaging	Het
Klhl26	T	A	8: 70,905,342 (GRCm39)	E108D	possibly damaging	Het
Kpnb1	A	T	11: 97,059,996 (GRCm39)	L558Q	probably damaging	Het
Lias	T	C	5: 65,551,383 (GRCm39)		probably null	Het
Ltbp1	A	T	17: 75,583,502 (GRCm39)	K434M	possibly damaging	Het
Marchf1	C	A	8: 66,908,823 (GRCm39)	A177E	probably damaging	Het
Naip2	T	A	13: 100,291,419 (GRCm39)	H1173L	probably benign	Het
Nol4	T	C	18: 22,885,052 (GRCm39)	I419V	probably damaging	Het
Nol6	A	G	4: 41,115,888 (GRCm39)	L1068P	probably damaging	Het
Nrcam	T	C	12: 44,606,513 (GRCm39)	S420P	probably damaging	Het
Or10c1	A	T	17: 37,522,204 (GRCm39)	I180N	possibly damaging	Het
Pitpnm2	T	C	5: 124,259,439 (GRCm39)	T1299A	probably benign	Het
Prdm16	A	G	4: 154,406,765 (GRCm39)	V1220A	probably benign	Het
Saraf	T	C	8: 34,621,870 (GRCm39)	S25P	unknown	Het
Serpine3	C	A	14: 62,911,922 (GRCm39)	L295I	probably damaging	Het
Sntb2	G	A	8: 107,718,239 (GRCm39)		probably null	Het
Surf6	T	C	2: 26,782,721 (GRCm39)	E202G	probably benign	Het
Tent5a	T	C	9: 85,208,527 (GRCm39)	I99V	possibly damaging	Het
Th	A	T	7: 142,450,690 (GRCm39)	D135E	probably benign	Het
Traf1	A	G	2: 34,835,445 (GRCm39)	Y326H	probably damaging	Het
Tshz2	G	A	2: 169,727,008 (GRCm39)	A66T	probably benign	Het
Ttn	T	C	2: 76,777,257 (GRCm39)	M1382V	probably benign	Het
Ubqlnl	A	G	7: 103,798,396 (GRCm39)	V367A	probably benign	Het
Uspl1	T	A	5: 149,150,962 (GRCm39)	S707T	possibly damaging	Het
Utp18	A	G	11: 93,761,359 (GRCm39)	S350P	possibly damaging	Het
Vmn1r177	A	G	7: 23,565,645 (GRCm39)	V77A	possibly damaging	Het
Vmn1r229	A	G	17: 21,034,894 (GRCm39)	I46M	probably damaging	Het
Vnn3	T	C	10: 23,741,567 (GRCm39)	Y291H	probably benign	Het
Vps9d1	A	G	8: 123,974,487 (GRCm39)	S267P	probably benign	Het
Wrn	T	A	8: 33,785,026 (GRCm39)	T692S	probably damaging	Het
Yeats2	T	C	16: 20,032,071 (GRCm39)	I19T	probably damaging	Het
Zfp13	G	A	17: 23,800,150 (GRCm39)	A36V	probably benign	Het

Other mutations in Clec18a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01348:Clec18a	APN	8	111,798,245 (GRCm39)	missense	probably damaging	1.00
LCD18:Clec18a	UTSW	8	111,802,768 (GRCm39)	splice site	probably benign
R1251:Clec18a	UTSW	8	111,808,270 (GRCm39)	missense	possibly damaging	0.46
R1528:Clec18a	UTSW	8	111,805,498 (GRCm39)	missense	probably benign	0.00
R1994:Clec18a	UTSW	8	111,808,234 (GRCm39)	missense	possibly damaging	0.90
R2283:Clec18a	UTSW	8	111,802,140 (GRCm39)	missense	probably benign	0.33
R4790:Clec18a	UTSW	8	111,798,717 (GRCm39)	missense	probably damaging	1.00
R5249:Clec18a	UTSW	8	111,800,368 (GRCm39)	missense	probably damaging	1.00
R5848:Clec18a	UTSW	8	111,802,093 (GRCm39)	missense	probably benign	0.24
R5862:Clec18a	UTSW	8	111,808,190 (GRCm39)	missense	possibly damaging	0.46
R6052:Clec18a	UTSW	8	111,805,448 (GRCm39)	nonsense	probably null
R6361:Clec18a	UTSW	8	111,807,661 (GRCm39)	intron	probably benign
R6786:Clec18a	UTSW	8	111,807,572 (GRCm39)	missense	probably benign	0.00
R7220:Clec18a	UTSW	8	111,808,204 (GRCm39)	missense	probably benign	0.00
R8074:Clec18a	UTSW	8	111,798,230 (GRCm39)	missense	probably damaging	0.99
R8157:Clec18a	UTSW	8	111,798,683 (GRCm39)	missense	probably damaging	1.00
R8170:Clec18a	UTSW	8	111,807,551 (GRCm39)	missense	probably damaging	0.98
R8309:Clec18a	UTSW	8	111,808,689 (GRCm39)	missense	probably benign	0.08
R8945:Clec18a	UTSW	8	111,808,201 (GRCm39)	missense	possibly damaging	0.55
R9433:Clec18a	UTSW	8	111,808,322 (GRCm39)	missense	probably benign	0.03

Predicted Primers

PCR Primer
(F):5'- TAGGTGATTCTGAGAAGGGGCC -3'
(R):5'- AGGTGCTAAGGTGACCCATGAG -3'

Sequencing Primer
(F):5'- CTCCTTCCAGCCAGTCAGG -3'
(R):5'- AGGGAGCCAGGAGCCATTC -3'

Posted On

2015-07-21