Mutagenetix > Incidental Mutation

Incidental Mutation 'R8243:Clec4a1'

637649

Institutional Source

Beutler Lab

Gene Symbol

Clec4a1

Ensembl Gene

ENSMUSG00000049037

Gene Name

C-type lectin domain family 4, member a1

Synonyms

mDcir4

MMRRC Submission

067648-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.051) question?

Stock #

R8243 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

122898807-122911578 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 122901778 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 70 (V70A)

Ref Sequence

ENSEMBL: ENSMUSP00000062441 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000060484]

AlphaFold

Q80UI7

Predicted Effect

possibly damaging
Transcript: ENSMUST00000060484
AA Change: V70A

PolyPhen 2 Score 0.747 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000062441
Gene: ENSMUSG00000049037
AA Change: V70A

Domain	Start	End	E-Value	Type
low complexity region	23	35	N/A	INTRINSIC
transmembrane domain	54	76	N/A	INTRINSIC
CLECT	114	239	8.08e-29	SMART

Coding Region Coverage

1x: 99.8%
3x: 99.5%
10x: 98.7%
20x: 96.0%

Validation Efficiency

100% (47/47)

Allele List at MGI

Other mutations in this stock

Total: 47 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam19	T	A	11: 46,015,909 (GRCm39)	H356Q	probably damaging	Het
BC030500	T	C	8: 59,365,388 (GRCm39)	I13T	unknown	Het
Bcl6	C	T	16: 23,786,883 (GRCm39)	C636Y	probably damaging	Het
Cabyr	G	T	18: 12,883,759 (GRCm39)	C82F	probably benign	Het
Col11a1	C	T	3: 113,855,141 (GRCm39)	P134S	unknown	Het
Col27a1	A	G	4: 63,144,120 (GRCm39)	T603A	probably damaging	Het
Col6a6	T	C	9: 105,576,468 (GRCm39)	D1964G	probably damaging	Het
Dnajc8	A	G	4: 132,278,775 (GRCm39)		probably null	Het
E330034G19Rik	T	C	14: 24,358,360 (GRCm39)	Y318H		Het
Efemp1	T	A	11: 28,871,690 (GRCm39)	S402T	probably damaging	Het
Emcn	T	C	3: 137,097,411 (GRCm39)	V110A	possibly damaging	Het
Fgd5	C	T	6: 91,966,004 (GRCm39)	L746F	possibly damaging	Het
Gna13	A	G	11: 109,287,239 (GRCm39)	N354S	probably damaging	Het
Helq	G	T	5: 100,918,348 (GRCm39)	S855R	possibly damaging	Het
Hps5	G	T	7: 46,436,066 (GRCm39)	A160E	probably damaging	Het
Igfbp7	T	A	5: 77,549,339 (GRCm39)	E188V	probably benign	Het
Ivd	A	G	2: 118,702,018 (GRCm39)	Y150C	probably damaging	Het
Jade2	T	C	11: 51,708,045 (GRCm39)	T723A	probably benign	Het
Kif1b	T	C	4: 149,288,724 (GRCm39)	N1239S	probably benign	Het
Klb	A	G	5: 65,536,338 (GRCm39)	N556S	possibly damaging	Het
Klhdc8a	C	T	1: 132,230,304 (GRCm39)	R140C	possibly damaging	Het
Klhl2	T	A	8: 65,202,084 (GRCm39)	M531L	probably benign	Het
Mark3	T	A	12: 111,613,956 (GRCm39)	S546R	possibly damaging	Het
Mfsd8	G	A	3: 40,789,628 (GRCm39)	R140C	probably damaging	Het
Musk	G	A	4: 58,293,600 (GRCm39)	R63K	probably benign	Het
Nacad	C	T	11: 6,552,643 (GRCm39)	E183K	probably damaging	Het
Oasl1	T	C	5: 115,066,220 (GRCm39)	Y113H	probably benign	Het
Or10g9b	A	T	9: 39,917,484 (GRCm39)	C254S	probably benign	Het
Or1x2	C	T	11: 50,918,138 (GRCm39)	T103M	probably benign	Het
Or4c111	T	A	2: 88,844,051 (GRCm39)	Y119F	probably benign	Het
Or51ab3	A	T	7: 103,201,205 (GRCm39)	D71V	probably damaging	Het
Or8b56	A	G	9: 38,739,803 (GRCm39)	E272G		Het
P4hb	T	C	11: 120,454,206 (GRCm39)	D296G	probably benign	Het
Plat	G	T	8: 23,262,248 (GRCm39)	G91W	probably damaging	Het
Plekhh1	G	A	12: 79,125,843 (GRCm39)	R1293H	probably benign	Het
Prss21	A	G	17: 24,088,376 (GRCm39)	T114A	probably damaging	Het
Ptprn	T	C	1: 75,229,179 (GRCm39)	D776G	probably damaging	Het
Rffl	A	G	11: 82,703,621 (GRCm39)	C101R	probably damaging	Het
Rundc1	A	G	11: 101,316,384 (GRCm39)	D152G	probably benign	Het
Sema6c	A	G	3: 95,079,916 (GRCm39)	T737A	probably damaging	Het
Sppl2c	A	G	11: 104,078,687 (GRCm39)	T496A	probably damaging	Het
Supt7l	T	C	5: 31,673,013 (GRCm39)	I412V	probably benign	Het
Trim38	T	A	13: 23,975,378 (GRCm39)	I439N	probably damaging	Het
Ugt1a1	CAGAGAGAGAGAGA	CAGAGAGAGAGA	1: 88,139,706 (GRCm39)		probably benign	Het
Usp18	G	A	6: 121,246,103 (GRCm39)	R353H	probably benign	Het
Usp42	T	C	5: 143,700,849 (GRCm39)	K1058R	probably benign	Het
Utp25	T	C	1: 192,796,937 (GRCm39)	D598G	probably benign	Het

Other mutations in Clec4a1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00926:Clec4a1	APN	6	122,899,014 (GRCm39)	missense	possibly damaging	0.53
IGL00932:Clec4a1	APN	6	122,907,654 (GRCm39)	missense	probably damaging	1.00
IGL01973:Clec4a1	APN	6	122,907,680 (GRCm39)	missense	probably damaging	1.00
IGL01976:Clec4a1	APN	6	122,905,033 (GRCm39)	splice site	probably benign
IGL02009:Clec4a1	APN	6	122,909,175 (GRCm39)	missense	probably benign	0.09
IGL02629:Clec4a1	APN	6	122,909,106 (GRCm39)	critical splice acceptor site	probably null
IGL03180:Clec4a1	APN	6	122,901,777 (GRCm39)	missense	probably benign	0.08
R1973:Clec4a1	UTSW	6	122,901,793 (GRCm39)	splice site	probably null
R4582:Clec4a1	UTSW	6	122,909,150 (GRCm39)	missense	possibly damaging	0.58
R4758:Clec4a1	UTSW	6	122,910,825 (GRCm39)	missense	probably damaging	0.97
R4937:Clec4a1	UTSW	6	122,907,654 (GRCm39)	missense	probably damaging	1.00
R5362:Clec4a1	UTSW	6	122,909,196 (GRCm39)	missense	probably damaging	1.00
R6247:Clec4a1	UTSW	6	122,905,001 (GRCm39)	missense	probably benign	0.10
R6748:Clec4a1	UTSW	6	122,910,856 (GRCm39)	missense	possibly damaging	0.72
R7387:Clec4a1	UTSW	6	122,899,016 (GRCm39)	missense	possibly damaging	0.91
R7481:Clec4a1	UTSW	6	122,904,998 (GRCm39)	missense	probably damaging	1.00
R7733:Clec4a1	UTSW	6	122,909,109 (GRCm39)	missense	possibly damaging	0.93
R8209:Clec4a1	UTSW	6	122,907,773 (GRCm39)	missense	probably damaging	0.99
R8297:Clec4a1	UTSW	6	122,898,960 (GRCm39)	missense	probably damaging	1.00
R8371:Clec4a1	UTSW	6	122,910,882 (GRCm39)	makesense	probably null
Z1177:Clec4a1	UTSW	6	122,910,851 (GRCm39)	missense	possibly damaging	0.46

Predicted Primers

PCR Primer
(F):5'- AGGGACACTCAAACTCTCCTTC -3'
(R):5'- GACACAGATCCATCCTCGGTAC -3'

Sequencing Primer
(F):5'- ACTCTCCTTCAAGATAAAATTGTCCC -3'
(R):5'- CCTCGGTACTAGAATCCAATGTAG -3'

Posted On

2020-07-13