Mutagenetix > Incidental Mutation

Incidental Mutation 'R4249:2700062C07Rik'

320551

Institutional Source

Beutler Lab

Gene Symbol

2700062C07Rik

Ensembl Gene

ENSMUSG00000024273

Gene Name

RIKEN cDNA 2700062C07 gene

Synonyms

MMRRC Submission

041065-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.926) question?

Stock #

R4249 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

24603928-24610824 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 24606013 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Serine at position 36 (N36S)

Ref Sequence

ENSEMBL: ENSMUSP00000095251 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000097646]

AlphaFold

no structure available at present

Predicted Effect

possibly damaging
Transcript: ENSMUST00000097646
AA Change: N36S

PolyPhen 2 Score 0.732 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000095251
Gene: ENSMUSG00000024273
AA Change: N36S

Domain	Start	End	E-Value	Type
Pfam:DUF4674	27	217	3.9e-80	PFAM

Meta Mutation Damage Score

0.1795

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.5%
20x: 95.8%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 43 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ankrd39	A	G	1: 36,586,236 (GRCm39)	S11P	probably benign	Het
Aox1	A	G	1: 58,338,978 (GRCm39)	S324G	probably benign	Het
Atl3	T	C	19: 7,509,703 (GRCm39)	V477A	probably benign	Het
Bcar1	T	C	8: 112,447,525 (GRCm39)	T151A	probably benign	Het
Cdc42bpg	A	G	19: 6,365,296 (GRCm39)	T718A	possibly damaging	Het
Col9a1	C	T	1: 24,283,462 (GRCm39)	R843C	probably damaging	Het
Dnah12	T	A	14: 26,430,341 (GRCm39)	D316E	possibly damaging	Het
Fat2	A	G	11: 55,175,127 (GRCm39)	V1862A	probably damaging	Het
Fbxw5	C	A	2: 25,393,472 (GRCm39)	N233K	probably damaging	Het
Fcer2a	A	G	8: 3,738,831 (GRCm39)	F75L	probably benign	Het
Fhod3	A	G	18: 25,123,123 (GRCm39)	K271R	probably null	Het
Gimd1	T	C	3: 132,350,169 (GRCm39)	V144A	possibly damaging	Het
Glt1d1	T	C	5: 127,768,176 (GRCm39)		probably null	Het
Hecw2	C	T	1: 53,871,804 (GRCm39)	V1381M	probably damaging	Het
Kansl1l	C	T	1: 66,812,637 (GRCm39)	D459N	probably damaging	Het
Lmtk3	G	A	7: 45,443,486 (GRCm39)	C723Y	possibly damaging	Het
Muc4	T	C	16: 32,576,200 (GRCm39)		probably benign	Het
Myom1	T	A	17: 71,399,135 (GRCm39)	V999E	probably damaging	Het
Nckap5	A	G	1: 125,955,376 (GRCm39)	L460P	probably benign	Het
Or12d17	T	C	17: 37,777,715 (GRCm39)	M206T	probably damaging	Het
Phf13	A	T	4: 152,076,552 (GRCm39)	N213K	probably damaging	Het
Phldb3	T	C	7: 24,326,745 (GRCm39)	I591T	probably damaging	Het
Pik3cb	T	C	9: 98,983,229 (GRCm39)		probably null	Het
Pkd1l1	C	T	11: 8,815,543 (GRCm39)	R1456K	possibly damaging	Het
Plekhh2	A	G	17: 84,893,765 (GRCm39)	E860G	possibly damaging	Het
Resf1	T	A	6: 149,227,041 (GRCm39)	M29K	possibly damaging	Het
Rest	A	G	5: 77,429,959 (GRCm39)	T793A	probably benign	Het
Ropn1	C	T	16: 34,498,826 (GRCm39)	Q205*	probably null	Het
Sacs	A	C	14: 61,440,906 (GRCm39)	K984T	probably benign	Het
Samd11	G	A	4: 156,334,943 (GRCm39)	R102C	probably damaging	Het
Satl1	A	G	X: 111,316,033 (GRCm39)	S141P	probably benign	Het
Shank1	C	A	7: 43,969,160 (GRCm39)	H352N	unknown	Het
Slc22a27	A	T	19: 7,903,244 (GRCm39)	I162K	possibly damaging	Het
Snx8	A	G	5: 140,341,800 (GRCm39)	L121P	probably damaging	Het
Sumf1	A	C	6: 108,131,974 (GRCm39)	V156G	probably damaging	Het
Tln1	A	T	4: 43,536,104 (GRCm39)	V2027E	probably damaging	Het
Trdn	A	G	10: 33,326,994 (GRCm39)	I594M	probably benign	Het
Trim5	C	G	7: 103,926,022 (GRCm39)	E180Q	possibly damaging	Het
Tsen2	A	G	6: 115,524,785 (GRCm39)		probably benign	Het
Tubb1	A	T	2: 174,297,526 (GRCm39)	E45V	probably null	Het
Vmn2r67	T	A	7: 84,799,722 (GRCm39)		probably null	Het
Zcchc14	CTGATGGTGGTGGTGATGGTGGTGG	CTGATGGTGGTGG	8: 122,331,031 (GRCm39)		probably benign	Het
Zfp160	T	A	17: 21,246,000 (GRCm39)	F183L	probably benign	Het

Other mutations in 2700062C07Rik

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01919:2700062C07Rik	APN	18	24,608,580 (GRCm39)	critical splice acceptor site	probably null
IGL02217:2700062C07Rik	APN	18	24,603,955 (GRCm39)	utr 5 prime	probably benign
R1108:2700062C07Rik	UTSW	18	24,610,333 (GRCm39)	missense	probably benign	0.09
R1422:2700062C07Rik	UTSW	18	24,610,333 (GRCm39)	missense	probably benign	0.09
R2212:2700062C07Rik	UTSW	18	24,603,977 (GRCm39)	missense	probably damaging	1.00
R4030:2700062C07Rik	UTSW	18	24,608,715 (GRCm39)	missense	probably benign	0.00
R4246:2700062C07Rik	UTSW	18	24,606,013 (GRCm39)	missense	possibly damaging	0.73
R4248:2700062C07Rik	UTSW	18	24,606,013 (GRCm39)	missense	possibly damaging	0.73
R4734:2700062C07Rik	UTSW	18	24,603,961 (GRCm39)	start codon destroyed	probably null	0.86
R7269:2700062C07Rik	UTSW	18	24,606,013 (GRCm39)	missense	probably damaging	0.98
R7903:2700062C07Rik	UTSW	18	24,608,783 (GRCm39)	critical splice donor site	probably null
R8125:2700062C07Rik	UTSW	18	24,608,709 (GRCm39)	missense	probably benign
R9577:2700062C07Rik	UTSW	18	24,608,663 (GRCm39)	missense	probably benign	0.01

Predicted Primers

PCR Primer
(F):5'- AGTATAGGCCAGTGACCTGC -3'
(R):5'- TTACCAGCACACTTGTAGAGTC -3'

Sequencing Primer
(F):5'- AAGGTATATTATTGGCAGTTTGCTC -3'
(R):5'- CCAGCACACTTGTAGAGTCTTTATAC -3'

Posted On

2015-06-12