Mutagenetix > Incidental Mutation

Incidental Mutation 'R5688:Cd248'

443539

Institutional Source

Beutler Lab

Gene Symbol

Cd248

Ensembl Gene

ENSMUSG00000056481

Gene Name

CD248 antigen, endosialin

Synonyms

2610111G01Rik, Cd164l1, Tem1

MMRRC Submission

043321-MU

Accession Numbers

Essential gene?

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

Stock #

R5688 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

5118106-5120668 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 5119963 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 604 (T604A)

Ref Sequence

ENSEMBL: ENSMUSP00000070847 (fasta)

Gene Model

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

AlphaFold

Q91V98

Predicted Effect

probably benign
Transcript: ENSMUST00000070630
AA Change: T604A

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000070847
Gene: ENSMUSG00000056481
AA Change: T604A

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: 99.4%
3x: 98.7%
10x: 97.3%
20x: 95.3%

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: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acp7	G	A	7: 28,315,920 (GRCm39)	A222V	probably benign	Het
Ahnak	A	G	19: 8,979,883 (GRCm39)	D389G	probably benign	Het
Aldh1l2	A	T	10: 83,337,789 (GRCm39)	S559T	possibly damaging	Het
Alms1	T	A	6: 85,576,877 (GRCm39)	N144K	possibly damaging	Het
Anp32b	T	A	4: 46,469,868 (GRCm39)		probably null	Het
Atf7	C	T	15: 102,459,944 (GRCm39)	R57H	probably damaging	Het
Atp10b	A	T	11: 43,092,000 (GRCm39)	H345L	probably benign	Het
Cacna2d1	A	T	5: 16,563,950 (GRCm39)	I859F	probably damaging	Het
Calcr	T	A	6: 3,714,730 (GRCm39)		probably null	Het
Cemip	C	T	7: 83,610,849 (GRCm39)	V702M	probably damaging	Het
Cep295	G	T	9: 15,243,282 (GRCm39)	Q469K	probably damaging	Het
Cntn5	A	G	9: 9,748,427 (GRCm39)	W485R	probably damaging	Het
Cpe	T	C	8: 65,062,189 (GRCm39)	N289S	possibly damaging	Het
Cyp2j11	G	A	4: 96,233,358 (GRCm39)	R113C	probably damaging	Het
Dcp1b	T	C	6: 119,194,872 (GRCm39)	S531P	probably benign	Het
Defb7	T	G	8: 19,545,167 (GRCm39)	L15R	probably damaging	Het
Dnah2	C	T	11: 69,349,746 (GRCm39)	R2399Q	probably benign	Het
Ednrb	T	C	14: 104,060,831 (GRCm39)	D198G	probably damaging	Het
Engase	A	C	11: 118,378,146 (GRCm39)	E312A	possibly damaging	Het
Evl	G	A	12: 108,639,612 (GRCm39)		probably null	Het
Faf1	C	A	4: 109,652,010 (GRCm39)	Q234K	probably damaging	Het
Garre1	T	A	7: 33,953,416 (GRCm39)	T449S	possibly damaging	Het
Garre1	T	G	7: 33,984,134 (GRCm39)	D163A	probably damaging	Het
Gm5460	C	A	14: 33,767,752 (GRCm39)	N453K	possibly damaging	Het
Gm7356	T	A	17: 14,220,869 (GRCm39)	I387F	possibly damaging	Het
H1f2	A	G	13: 23,923,148 (GRCm39)	K106R	probably damaging	Het
Hagh	T	C	17: 25,069,568 (GRCm39)	M1T	probably null	Het
Hars1	A	T	18: 36,905,369 (GRCm39)	V155E	probably damaging	Het
Lca5	C	A	9: 83,280,619 (GRCm39)	D394Y	probably benign	Het
Lmtk3	T	C	7: 45,440,834 (GRCm39)	L280P	probably damaging	Het
Lrit1	C	T	14: 36,784,385 (GRCm39)	A571V	possibly damaging	Het
Map4k2	C	A	19: 6,396,836 (GRCm39)	P584H	probably damaging	Het
Mgst1	T	C	6: 138,118,798 (GRCm39)		probably benign	Het
Mtrex	A	T	13: 113,009,590 (GRCm39)	C936*	probably null	Het
Neb	C	T	2: 52,086,339 (GRCm39)	V5245I	probably damaging	Het
Oas3	T	C	5: 120,896,867 (GRCm39)	N918S	probably benign	Het
Or4c106	C	T	2: 88,683,023 (GRCm39)	T243I	probably benign	Het
Or5d16	T	A	2: 87,773,552 (GRCm39)	Q140L	probably benign	Het
Or8b8	A	C	9: 37,809,359 (GRCm39)	I220L	possibly damaging	Het
Ovch2	A	G	7: 107,393,201 (GRCm39)	L224P	probably damaging	Het
Patj	A	T	4: 98,409,047 (GRCm39)	K34*	probably null	Het
Pcf11	T	A	7: 92,308,016 (GRCm39)	R717S	possibly damaging	Het
Plcb1	A	T	2: 135,177,400 (GRCm39)	E577D	probably benign	Het
Plxnb2	T	C	15: 89,042,899 (GRCm39)	K1497E	probably damaging	Het
Pyroxd1	C	A	6: 142,299,266 (GRCm39)	L141I	probably damaging	Het
Rhobtb3	G	T	13: 76,020,537 (GRCm39)	N588K	probably benign	Het
Rnasel	G	A	1: 153,629,452 (GRCm39)		probably benign	Het
Sh3bp5	C	A	14: 31,099,452 (GRCm39)	R265L	probably benign	Het
Shank1	A	T	7: 44,003,911 (GRCm39)	I1868F	possibly damaging	Het
Slc28a3	A	T	13: 58,706,463 (GRCm39)	S593T	probably damaging	Het
Slc29a4	T	C	5: 142,699,853 (GRCm39)	I168T	possibly damaging	Het
Slc35f5	C	T	1: 125,518,775 (GRCm39)	P502L	probably benign	Het
Slco6d1	T	C	1: 98,408,493 (GRCm39)	I463T	probably damaging	Het
Slk	A	G	19: 47,608,451 (GRCm39)	D468G	probably benign	Het
Spata31d1d	G	T	13: 59,874,322 (GRCm39)	P1071Q	probably damaging	Het
Tert	G	A	13: 73,787,275 (GRCm39)	V754I	probably damaging	Het
Thada	T	C	17: 84,759,155 (GRCm39)	T235A	probably benign	Het
Ttn	T	C	2: 76,564,472 (GRCm39)	D28555G	probably damaging	Het
Ttn	T	A	2: 76,710,328 (GRCm39)		probably null	Het
Ubqln4	T	C	3: 88,472,575 (GRCm39)	L464P	probably damaging	Het
Unc45b	A	T	11: 82,813,643 (GRCm39)	N350I	possibly damaging	Het
Vmn2r65	T	C	7: 84,589,900 (GRCm39)	D672G	probably benign	Het
Zfp947	T	A	17: 22,365,066 (GRCm39)	I203L	probably benign	Het
Zfp964	T	A	8: 70,116,766 (GRCm39)	H454Q	probably benign	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
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
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'- AGGCCCCTATGTCTCCAGATAC -3'
(R):5'- TTTGGCCTGCAAGACCTGAC -3'

Sequencing Primer
(F):5'- AGATACCCACACTATCACTTATTTGC -3'
(R):5'- CACTGATTTGGGACTGGGAACTC -3'

Posted On

2016-11-09