Mutagenetix > Incidental Mutation

Incidental Mutation 'R4985:Cd248'

385858

Institutional Source

Beutler Lab

Gene Symbol

Cd248

Ensembl Gene

ENSMUSG00000056481

Gene Name

CD248 antigen, endosialin

Synonyms

2610111G01Rik, Cd164l1, Tem1

MMRRC Submission

042579-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.130) question?

Stock #

R4985 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

5118106-5120668 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 5119820 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Isoleucine at position 556 (T556I)

Ref Sequence

ENSEMBL: ENSMUSP00000070847 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000070630] [ENSMUST00000140389] [ENSMUST00000151413]

AlphaFold

Q91V98

Predicted Effect

probably damaging
Transcript: ENSMUST00000070630
AA Change: T556I

PolyPhen 2 Score 0.961 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000070847
Gene: ENSMUSG00000056481
AA Change: T556I

Domain	Start	End	E-Value	Type
signal peptide	1	17	N/A	INTRINSIC
CLECT	22	157	1.14e-14	SMART
Blast:CCP	164	225	5e-31	BLAST
EGF	234	272	5.32e-1	SMART
EGF	274	311	2.08e-3	SMART
EGF_CA	312	351	2.92e-7	SMART
low complexity region	363	387	N/A	INTRINSIC
low complexity region	478	491	N/A	INTRINSIC
low complexity region	620	634	N/A	INTRINSIC
transmembrane domain	694	716	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000140389

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000143677

Predicted Effect

probably benign
Transcript: ENSMUST00000151413

SMART Domains

Protein: ENSMUSP00000121084
Gene: ENSMUSG00000061451

Domain	Start	End	E-Value	Type
low complexity region	37	48	N/A	INTRINSIC

Meta Mutation Damage Score

0.0865

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.1%
20x: 94.6%

Validation Efficiency

100% (52/52)

MGI Phenotype

PHENOTYPE: Homozygous null mice display decreased growth of implanted abdominal and intestinal tumors, but have normal wound healing and no gross morphological abnormalities. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4921508M14Rik	A	T	12: 34,924,457 (GRCm39)		probably benign	Het
Actn4	A	G	7: 28,618,411 (GRCm39)	L83P	probably damaging	Het
Adgb	T	C	10: 10,276,376 (GRCm39)	R331G	possibly damaging	Het
Bmal1	T	C	7: 112,884,280 (GRCm39)	V106A	probably damaging	Het
Brf1	G	T	12: 112,932,990 (GRCm39)		probably null	Het
Cdkn2aip	G	T	8: 48,166,480 (GRCm39)		probably benign	Het
Ces1d	T	C	8: 93,901,772 (GRCm39)	E399G	possibly damaging	Het
Col9a3	G	A	2: 180,245,193 (GRCm39)	R134H	unknown	Het
Ddb2	T	C	2: 91,042,643 (GRCm39)		probably null	Het
Dlg1	A	G	16: 31,606,953 (GRCm39)		probably null	Het
Dnah1	T	G	14: 31,008,855 (GRCm39)	E1973A	probably null	Het
Dync1h1	C	A	12: 110,624,560 (GRCm39)	T3700N	probably damaging	Het
E130308A19Rik	A	G	4: 59,691,017 (GRCm39)	T284A	probably benign	Het
Ecm1	C	T	3: 95,643,415 (GRCm39)	R295H	possibly damaging	Het
Efcab5	T	A	11: 77,029,055 (GRCm39)	H92L	probably damaging	Het
Egfr	C	A	11: 16,809,029 (GRCm39)	Y74*	probably null	Het
Fbxo10	T	C	4: 45,040,692 (GRCm39)	I838V	probably benign	Het
Gfod2	C	T	8: 106,454,643 (GRCm39)	R79Q	probably damaging	Het
Gm11568	C	A	11: 99,749,274 (GRCm39)	P160T	unknown	Het
Gm29106	A	T	1: 118,126,950 (GRCm39)	D214V	probably benign	Het
Htr3b	C	A	9: 48,847,241 (GRCm39)	V425F	possibly damaging	Het
Krt86	A	T	15: 101,375,146 (GRCm39)	E347V	probably damaging	Het
Lamc2	T	C	1: 153,012,551 (GRCm39)	I708V	probably benign	Het
Ldb2	T	A	5: 44,637,645 (GRCm39)	K221I	probably damaging	Het
Lmntd2	A	C	7: 140,793,190 (GRCm39)	S127R	probably benign	Het
Lrba	A	G	3: 86,234,743 (GRCm39)		probably null	Het
Mettl26	T	A	17: 26,095,750 (GRCm39)	*202R	probably null	Het
Mmp24	A	G	2: 155,656,016 (GRCm39)	K485E	probably damaging	Het
Nap1l1	T	C	10: 111,325,944 (GRCm39)	C88R	probably benign	Het
Or2d2	C	A	7: 106,728,234 (GRCm39)	R122L	probably damaging	Het
Or8b49	T	A	9: 38,505,658 (GRCm39)	I47N	possibly damaging	Het
Pafah1b1	T	G	11: 74,576,814 (GRCm39)	D159A	probably damaging	Het
Pcdhga7	T	C	18: 37,848,698 (GRCm39)	V235A	probably benign	Het
Pcf11	T	C	7: 92,311,110 (GRCm39)	T293A	probably benign	Het
Pidd1	A	C	7: 141,018,504 (GRCm39)	*916E	probably null	Het
Pip4k2c	T	C	10: 127,035,244 (GRCm39)	I375V	probably benign	Het
Pou3f2	A	T	4: 22,487,588 (GRCm39)	S182T	probably benign	Het
Rin3	A	T	12: 102,334,821 (GRCm39)	D164V	unknown	Het
Rnf8	T	C	17: 29,845,834 (GRCm39)	S199P	possibly damaging	Het
Serpina6	A	G	12: 103,620,195 (GRCm39)	S185P	probably benign	Het
Slc47a2	C	A	11: 61,193,059 (GRCm39)	V565L	probably benign	Het
Slfn4	T	A	11: 83,078,033 (GRCm39)	F274I	probably damaging	Het
Tgif1	T	C	17: 71,151,867 (GRCm39)	Y248C	probably benign	Het
Tlx1	C	A	19: 45,139,421 (GRCm39)	Q23K	possibly damaging	Het
Trpv4	T	C	5: 114,760,793 (GRCm39)	D846G	probably benign	Het
Tspyl1	G	A	10: 34,158,334 (GRCm39)	D20N	probably benign	Het
Vmn1r159	A	T	7: 22,542,959 (GRCm39)	F24L	probably damaging	Het
Vmn1r204	T	A	13: 22,741,230 (GRCm39)	V287D	probably damaging	Het
Zdhhc18	A	G	4: 133,340,228 (GRCm39)		probably null	Het
Zfp276	T	G	8: 123,994,646 (GRCm39)	V571G	probably damaging	Het

Other mutations in Cd248

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02413:Cd248	APN	19	5,120,201 (GRCm39)	missense	probably damaging	0.98
solidity	UTSW	19	5,119,383 (GRCm39)	nonsense	probably null
R0130:Cd248	UTSW	19	5,119,990 (GRCm39)	missense	probably benign
R0145:Cd248	UTSW	19	5,119,051 (GRCm39)	missense	possibly damaging	0.85
R1589:Cd248	UTSW	19	5,119,960 (GRCm39)	missense	probably benign	0.01
R2091:Cd248	UTSW	19	5,120,074 (GRCm39)	missense	possibly damaging	0.84
R2253:Cd248	UTSW	19	5,118,154 (GRCm39)	start codon destroyed	probably null
R2381:Cd248	UTSW	19	5,119,221 (GRCm39)	missense	possibly damaging	0.68
R2386:Cd248	UTSW	19	5,119,221 (GRCm39)	missense	possibly damaging	0.68
R3892:Cd248	UTSW	19	5,119,534 (GRCm39)	missense	probably damaging	0.99
R4259:Cd248	UTSW	19	5,118,866 (GRCm39)	missense	probably damaging	0.99
R4695:Cd248	UTSW	19	5,118,473 (GRCm39)	missense	probably damaging	0.98
R4897:Cd248	UTSW	19	5,119,195 (GRCm39)	missense	probably benign	0.33
R5491:Cd248	UTSW	19	5,120,237 (GRCm39)	missense	probably damaging	1.00
R5688:Cd248	UTSW	19	5,119,963 (GRCm39)	missense	probably benign	0.01
R6301:Cd248	UTSW	19	5,120,009 (GRCm39)	missense	probably benign	0.03
R7260:Cd248	UTSW	19	5,119,383 (GRCm39)	nonsense	probably null
R8468:Cd248	UTSW	19	5,119,910 (GRCm39)	missense	possibly damaging	0.76
R8824:Cd248	UTSW	19	5,119,645 (GRCm39)	missense	probably benign	0.01
R9129:Cd248	UTSW	19	5,120,140 (GRCm39)	missense	probably benign	0.34
Z1177:Cd248	UTSW	19	5,119,193 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TATTTCAGCTACACGCCCAC -3'
(R):5'- GCACAGGAGTTTCATGGACAG -3'

Sequencing Primer
(F):5'- AGCTGTGTTCTCTGAGCACCAG -3'
(R):5'- CAGGAGTTTCATGGACAGAAGACC -3'

Posted On

2016-05-10