Mutagenetix > Incidental Mutation

Incidental Mutation 'R2253:Cd248'

241837

Institutional Source

Beutler Lab

Gene Symbol

Cd248

Ensembl Gene

ENSMUSG00000056481

Gene Name

CD248 antigen, endosialin

Synonyms

2610111G01Rik, Cd164l1, Tem1

MMRRC Submission

040253-MU

Accession Numbers

Essential gene?

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

Stock #

R2253 (G1)

Quality Score

111

Status

Not validated

Chromosome

Chromosomal Location

5118106-5120668 bp(+) (GRCm39)

Type of Mutation

start codon destroyed

DNA Base Change (assembly)

A to G at 5118154 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Valine at position 1 (M1V)

Ref Sequence

ENSEMBL: ENSMUSP00000070847 (fasta)

Gene Model

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

AlphaFold

Q91V98

Predicted Effect

probably null
Transcript: ENSMUST00000070630
AA Change: M1V

SMART Domains

Protein: ENSMUSP00000070847
Gene: ENSMUSG00000056481
AA Change: M1V

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

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 97.2%
20x: 94.9%

Validation Efficiency

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: 46 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700129C05Rik	G	A	14: 59,380,061 (GRCm39)	S79F	probably damaging	Het
Acss3	G	A	10: 106,840,609 (GRCm39)	A384V	probably damaging	Het
Aff2	G	A	X: 68,878,409 (GRCm39)	E732K	possibly damaging	Het
Atp12a	A	G	14: 56,613,715 (GRCm39)	T496A	probably benign	Het
B3gnt3	A	T	8: 72,145,462 (GRCm39)	M302K	probably damaging	Het
Bptf	G	T	11: 107,002,148 (GRCm39)	D321E	probably damaging	Het
C1ql3	C	T	2: 13,015,130 (GRCm39)	V177I	possibly damaging	Het
C2cd5	A	T	6: 142,982,042 (GRCm39)	Y607*	probably null	Het
Casp3	G	T	8: 47,090,990 (GRCm39)	W214L	probably damaging	Het
Cdh18	A	G	15: 23,410,891 (GRCm39)	T405A	probably benign	Het
Cldn24	G	T	8: 48,275,363 (GRCm39)	R62S	probably benign	Het
Cnot1	A	G	8: 96,489,814 (GRCm39)	V463A	probably benign	Het
Cul2	A	T	18: 3,399,876 (GRCm39)	L3F	probably damaging	Het
Ep400	A	T	5: 110,866,957 (GRCm39)	N1062K	unknown	Het
Gch1	T	C	14: 47,426,798 (GRCm39)		probably benign	Het
Gzf1	T	C	2: 148,525,856 (GRCm39)	M109T	probably damaging	Het
Itch	T	A	2: 155,054,259 (GRCm39)	M701K	probably benign	Het
Kank4	A	T	4: 98,667,463 (GRCm39)	I328N	probably damaging	Het
Krt9	A	T	11: 100,081,685 (GRCm39)	N281K	possibly damaging	Het
Lgals12	T	A	19: 7,584,130 (GRCm39)		probably benign	Het
Lrrc37a	T	C	11: 103,392,293 (GRCm39)	Q1044R	probably benign	Het
Mbtps2	A	T	X: 156,342,029 (GRCm39)	F270L	probably benign	Het
Nr3c1	G	T	18: 39,619,804 (GRCm39)	T161K	probably benign	Het
Or2w3b	T	C	11: 58,623,821 (GRCm39)	T57A	probably benign	Het
Or4g16	A	G	2: 111,136,655 (GRCm39)	Y35C	probably damaging	Het
Or5ak20	A	G	2: 85,184,202 (GRCm39)	S23P	possibly damaging	Het
Or5b116	T	C	19: 13,422,549 (GRCm39)	Y58H	probably damaging	Het
Pla2g4d	T	C	2: 120,101,622 (GRCm39)	K453E	probably damaging	Het
Plcb2	T	C	2: 118,554,246 (GRCm39)	N69S	probably benign	Het
Prl3d1	T	C	13: 27,278,981 (GRCm39)	Y59H	possibly damaging	Het
Rnf133	T	C	6: 23,649,174 (GRCm39)	M252V	probably benign	Het
Rnf181	G	T	6: 72,338,467 (GRCm39)	H14N	possibly damaging	Het
Sash1	A	T	10: 8,605,741 (GRCm39)	M883K	probably benign	Het
Secisbp2l	C	T	2: 125,582,657 (GRCm39)	G933D	possibly damaging	Het
Slc13a4	A	G	6: 35,257,418 (GRCm39)	V240A	probably benign	Het
Slc2a5	T	C	4: 150,224,447 (GRCm39)	Y315H	possibly damaging	Het
Slc7a2	T	C	8: 41,358,658 (GRCm39)	Y334H	probably benign	Het
Spib	A	G	7: 44,179,392 (GRCm39)	S23P	probably benign	Het
Tbc1d1	A	G	5: 64,442,143 (GRCm39)	N721S	probably benign	Het
Tcf25	A	G	8: 124,100,772 (GRCm39)	E54G	probably benign	Het
Tesl2	G	A	X: 23,824,950 (GRCm39)	A75V	probably benign	Het
Tns2	C	T	15: 102,017,369 (GRCm39)	R281C	probably damaging	Het
Uba7	A	G	9: 107,853,563 (GRCm39)	H131R	probably benign	Het
Vmn2r6	C	T	3: 64,467,139 (GRCm39)	C120Y	probably damaging	Het
Zdhhc18	A	T	4: 133,360,388 (GRCm39)		probably null	Het
Zfp970	T	A	2: 177,166,614 (GRCm39)		probably null	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
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
R4985:Cd248	UTSW	19	5,119,820 (GRCm39)	missense	probably damaging	0.96
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'- GGTAGCCCGTTAGTTGTACC -3'
(R):5'- AATCCATAGCAGCCCGTTGG -3'

Sequencing Primer
(F):5'- TTCGCCTCTCACCCCAGAAC -3'
(R):5'- ACCAGGCTGTCCACACG -3'

Posted On

2014-10-16