Mutagenetix > Incidental Mutation

Incidental Mutation 'R8468:Cd248'

656933

Institutional Source

Beutler Lab

Gene Symbol

Cd248

Ensembl Gene

ENSMUSG00000056481

Gene Name

CD248 antigen, endosialin

Synonyms

Tem1, 2610111G01Rik, Cd164l1

MMRRC Submission

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.151) question?

Stock #

R8468 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

5068078-5070637 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 5069882 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Asparagine at position 586 (I586N)

Ref Sequence

ENSEMBL: ENSMUSP00000070847 (fasta)

Gene Model

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

AlphaFold

Q91V98

Predicted Effect

possibly damaging
Transcript: ENSMUST00000070630
AA Change: I586N

PolyPhen 2 Score 0.759 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000070847
Gene: ENSMUSG00000056481
AA Change: I586N

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

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: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.3%

Validation Efficiency

100% (36/36)

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: 37 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts1	A	G	16: 85,795,556	W655R	possibly damaging	Het
Adamts3	C	T	5: 89,694,768	A748T	probably benign	Het
Ano1	A	C	7: 144,655,620	F248C	probably damaging	Het
Ap2b1	T	A	11: 83,351,065	L628Q	probably damaging	Het
BC035947	C	A	1: 78,498,330	A522S	probably damaging	Het
Bdp1	A	G	13: 100,060,568	V1103A	probably benign	Het
Dnah9	C	A	11: 65,831,730	M4428I	probably benign	Het
Epha5	T	C	5: 84,142,416		probably null	Het
Fan1	T	A	7: 64,372,486	N340Y	probably damaging	Het
Fastkd2	T	A	1: 63,731,764	L93Q	probably benign	Het
Gm6665	T	C	18: 31,820,400	D5G	possibly damaging	Het
Gphn	T	C	12: 78,226,827	V17A	probably benign	Het
Gpr85	A	T	6: 13,836,296	L203H	probably damaging	Het
Grk6	A	G	13: 55,451,385	Y166C	probably damaging	Het
Ints3	A	G	3: 90,406,253	V356A	probably damaging	Het
Krt33b	G	A	11: 100,029,789	R13C	probably damaging	Het
Lgals3	A	G	14: 47,381,647	I146V	possibly damaging	Het
Lrp1	G	A	10: 127,558,650	R2565C	probably damaging	Het
Miip	G	T	4: 147,861,471	D325E	probably damaging	Het
Naaladl1	T	A	19: 6,108,585	V249E	probably damaging	Het
Nfxl1	C	T	5: 72,518,205	R811K	possibly damaging	Het
Olfr1145	T	C	2: 87,810,738	I306T	possibly damaging	Het
Olfr676	A	T	7: 105,035,746	I183F	probably damaging	Het
Olfr681	A	G	7: 105,121,478	D7G	probably benign	Het
Olfr701	A	G	7: 106,818,839	Y252C	possibly damaging	Het
Olfr822	C	T	10: 130,074,434	T8I	probably benign	Het
Olfr994	T	A	2: 85,430,178	Y217F	probably damaging	Het
Pkd2l2	A	G	18: 34,427,411	D357G	possibly damaging	Het
Ppp1r36	A	G	12: 76,436,205	Y189C	probably damaging	Het
Rev3l	A	G	10: 39,827,991	E2011G	probably damaging	Het
Sestd1	T	A	2: 77,191,746	T534S	probably benign	Het
Sfmbt1	G	A	14: 30,773,984	A75T	probably benign	Het
Smarcc2	G	A	10: 128,484,393	R882H	probably benign	Het
Son	CATGGACTCCCAGATGTTAGCAACTAGCTCTATGGACTCCCAGATGTTAGCAACTAGCTCTATGGACTCCCAGATGTTAGCAACCAGCAGTATGGACTCCCAGATGTTAGCAACCAGCAGTATGGACTCCCAGATGTTAGCAACCAGCTCCATGGACTCCCAGATGTTAGCAAC	CATGGACTCCCAGATGTTAGCAACTAGCTCTATGGACTCCCAGATGTTAGCAACCAGCAGTATGGACTCCCAGATGTTAGCAACCAGCAGTATGGACTCCCAGATGTTAGCAACCAGCTCCATGGACTCCCAGATGTTAGCAAC	16: 91,656,691		probably benign	Het
Speg	C	T	1: 75,431,309	A3216V	probably damaging	Het
Vmn1r12	A	G	6: 57,159,385	T112A	probably benign	Het
Zfp937	T	G	2: 150,238,714	D221E	probably benign	Het

Other mutations in Cd248

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02413:Cd248	APN	19	5070173	missense	probably damaging	0.98
solidity	UTSW	19	5069355	nonsense	probably null
R0130:Cd248	UTSW	19	5069962	missense	probably benign
R0145:Cd248	UTSW	19	5069023	missense	possibly damaging	0.85
R1589:Cd248	UTSW	19	5069932	missense	probably benign	0.01
R2091:Cd248	UTSW	19	5070046	missense	possibly damaging	0.84
R2253:Cd248	UTSW	19	5068126	start codon destroyed	probably null
R2381:Cd248	UTSW	19	5069193	missense	possibly damaging	0.68
R2386:Cd248	UTSW	19	5069193	missense	possibly damaging	0.68
R3892:Cd248	UTSW	19	5069506	missense	probably damaging	0.99
R4259:Cd248	UTSW	19	5068838	missense	probably damaging	0.99
R4695:Cd248	UTSW	19	5068445	missense	probably damaging	0.98
R4897:Cd248	UTSW	19	5069167	missense	probably benign	0.33
R4985:Cd248	UTSW	19	5069792	missense	probably damaging	0.96
R5491:Cd248	UTSW	19	5070209	missense	probably damaging	1.00
R5688:Cd248	UTSW	19	5069935	missense	probably benign	0.01
R6301:Cd248	UTSW	19	5069981	missense	probably benign	0.03
R7260:Cd248	UTSW	19	5069355	nonsense	probably null
R8824:Cd248	UTSW	19	5069617	missense	probably benign	0.01
R9129:Cd248	UTSW	19	5070112	missense	probably benign	0.34
Z1177:Cd248	UTSW	19	5069165	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CACAAGCCTGGGATAACCTC -3'
(R):5'- CTCTGGAATAGGAATGTGTAGGGC -3'

Sequencing Primer
(F):5'- TGGGATAACCTCGGCCACTC -3'
(R):5'- AATGTGTAGGGCTGATAGATGAGGTC -3'

Posted On

2021-01-18