Mutagenetix > Incidental Mutation

Incidental Mutation 'R8945:Clec18a'

681247

Institutional Source

Beutler Lab

Gene Symbol

Clec18a

Ensembl Gene

ENSMUSG00000033633

Gene Name

C-type lectin domain family 18, member A

Synonyms

Mrcl

MMRRC Submission

068713-MU

Accession Numbers

Essential gene?

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

Stock #

R8945 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

111796128-111819056 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 111808201 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Threonine at position 77 (S77T)

Ref Sequence

ENSEMBL: ENSMUSP00000139789 (fasta)

Gene Model

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

AlphaFold

Q7TSQ1

Predicted Effect

probably benign
Transcript: ENSMUST00000039597
AA Change: V67D

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000046546
Gene: ENSMUSG00000033633
AA Change: V67D

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
AA Change: V67D

PolyPhen 2 Score 0.160 (Sensitivity: 0.92; Specificity: 0.87)

Predicted Effect

probably benign
Transcript: ENSMUST00000188466
AA Change: S46T

PolyPhen 2 Score 0.030 (Sensitivity: 0.95; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000141073
Gene: ENSMUSG00000033633
AA Change: S46T

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 benign
Transcript: ENSMUST00000190222
AA Change: S46T

PolyPhen 2 Score 0.031 (Sensitivity: 0.95; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000139634
Gene: ENSMUSG00000033633
AA Change: S46T

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

possibly damaging
Transcript: ENSMUST00000190778
AA Change: S77T

PolyPhen 2 Score 0.548 (Sensitivity: 0.88; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000139789
Gene: ENSMUSG00000033633
AA Change: S77T

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

Predicted Effect

probably benign
Transcript: ENSMUST00000191030
AA Change: S77T

PolyPhen 2 Score 0.030 (Sensitivity: 0.95; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000139569
Gene: ENSMUSG00000033633
AA Change: S77T

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 benign
Transcript: ENSMUST00000191469
AA Change: V67D

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000139515
Gene: ENSMUSG00000033633
AA Change: V67D

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: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.5%

Validation Efficiency

100% (57/57)

Allele List at MGI

Other mutations in this stock

Total: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aopep	G	T	13: 63,388,145 (GRCm39)	K709N	probably null	Het
Aste1	G	A	9: 105,273,880 (GRCm39)	C40Y	probably benign	Het
Atp6v0a2	G	T	5: 124,784,589 (GRCm39)	A291S	probably damaging	Het
Bcl9l	G	T	9: 44,412,238 (GRCm39)	V38L	possibly damaging	Het
Bmp1	T	C	14: 70,727,630 (GRCm39)	Y651C	probably damaging	Het
Btnl9	T	C	11: 49,065,661 (GRCm39)	E398G	probably benign	Het
C2cd3	A	T	7: 100,040,286 (GRCm39)	N285I	possibly damaging	Het
Cavin1	T	C	11: 100,849,659 (GRCm39)	T324A	probably damaging	Het
Ccdc73	A	G	2: 104,821,712 (GRCm39)	T554A	probably benign	Het
Clcn1	A	T	6: 42,263,701 (GRCm39)	M1L	possibly damaging	Het
Dhx32	A	G	7: 133,323,876 (GRCm39)		probably null	Het
Dmxl1	C	G	18: 50,072,639 (GRCm39)	N2744K	probably damaging	Het
Dnah10	A	C	5: 124,891,006 (GRCm39)	E3199A	probably damaging	Het
Dnah11	G	T	12: 117,987,718 (GRCm39)	L2395I	probably benign	Het
Dthd1	A	T	5: 63,007,096 (GRCm39)	Y599F	probably benign	Het
Dusp26	G	A	8: 31,586,367 (GRCm39)	R196K	unknown	Het
Dyrk1a	A	G	16: 94,466,866 (GRCm39)	Y140C	probably damaging	Het
Elmo1	T	A	13: 20,766,438 (GRCm39)	Y588*	probably null	Het
Eml6	T	A	11: 29,703,110 (GRCm39)	T1603S	probably damaging	Het
Fam162b	T	C	10: 51,466,469 (GRCm39)	T17A	probably benign	Het
Fnbp1	T	A	2: 30,995,346 (GRCm39)	K29N	probably damaging	Het
Fzd4	A	T	7: 89,056,792 (GRCm39)	I280L	possibly damaging	Het
G3bp2	G	A	5: 92,216,281 (GRCm39)	T85I	probably damaging	Het
Gm13283	C	T	4: 88,679,123 (GRCm39)	A38V	probably benign	Het
Hps3	T	A	3: 20,068,224 (GRCm39)	H610L	probably damaging	Het
Ifnlr1	T	G	4: 135,431,609 (GRCm39)	L266R	probably damaging	Het
Jak1	A	T	4: 101,020,109 (GRCm39)	D683E	probably benign	Het
Lrrc1	G	A	9: 77,342,373 (GRCm39)	T412M	probably damaging	Het
Mdga1	G	T	17: 30,058,959 (GRCm39)		probably benign	Het
Med26	T	C	8: 73,250,934 (GRCm39)	K55R	probably benign	Het
Mturn	C	A	6: 54,666,017 (GRCm39)	C63*	probably null	Het
Myo1h	A	C	5: 114,470,784 (GRCm39)	D381A	probably damaging	Het
Nectin1	A	G	9: 43,703,237 (GRCm39)	D165G	probably benign	Het
Nktr	T	A	9: 121,575,558 (GRCm39)	D330E	possibly damaging	Het
Oprm1	A	T	10: 6,782,644 (GRCm39)		probably benign	Het
Papola	T	A	12: 105,775,946 (GRCm39)		probably benign	Het
Pdcl2	A	T	5: 76,465,675 (GRCm39)	C134S	probably damaging	Het
Plch1	T	C	3: 63,639,039 (GRCm39)	Y478C	probably benign	Het
Rev1	A	T	1: 38,122,824 (GRCm39)	W465R	probably damaging	Het
Rp1	T	A	1: 4,419,817 (GRCm39)	I432F	probably benign	Het
Samd14	A	C	11: 94,912,027 (GRCm39)	D168A	probably damaging	Het
Sdk1	G	T	5: 141,598,935 (GRCm39)	C200F	probably benign	Het
Spmip2	A	G	3: 79,252,812 (GRCm39)	H9R	probably benign	Het
Spsb1	T	C	4: 149,991,475 (GRCm39)	Y31C	possibly damaging	Het
Spz1	T	C	13: 92,711,499 (GRCm39)	K326E	possibly damaging	Het
Tcaf1	C	T	6: 42,663,307 (GRCm39)	S191N	probably benign	Het
Tex15	A	G	8: 34,064,724 (GRCm39)	S1385G	probably benign	Het
Tmem38a	C	T	8: 73,338,570 (GRCm39)	A194V	probably damaging	Het
Trappc9	T	C	15: 72,929,945 (GRCm39)	N137S	probably benign	Het
Tshr	T	C	12: 91,504,997 (GRCm39)	L645P	probably damaging	Het
Tspyl4	T	A	10: 34,173,461 (GRCm39)		probably benign	Het
Unc13a	T	A	8: 72,100,597 (GRCm39)	I1064F	probably damaging	Het
Utp20	G	A	10: 88,628,532 (GRCm39)	Q921*	probably null	Het
Vps13a	A	T	19: 16,642,114 (GRCm39)	I2171N	probably damaging	Het
Zfp40	A	G	17: 23,401,201 (GRCm39)	V14A	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
R4458:Clec18a	UTSW	8	111,802,102 (GRCm39)	missense	probably damaging	1.00
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
R9433:Clec18a	UTSW	8	111,808,322 (GRCm39)	missense	probably benign	0.03

Predicted Primers

PCR Primer
(F):5'- CATAACACAGGGCTCAGTCC -3'
(R):5'- TTTTGAAGTCAGTGCACCAAGG -3'

Sequencing Primer
(F):5'- AGGGCTCAGTCCTGGGTAC -3'
(R):5'- CTTTTGACTGGCAGCTTAGC -3'

Posted On

2021-08-31