Mutagenetix > Incidental Mutation

Incidental Mutation 'R4248:2700062C07Rik'

320509

Institutional Source

Beutler Lab

Gene Symbol

2700062C07Rik

Ensembl Gene

ENSMUSG00000024273

Gene Name

RIKEN cDNA 2700062C07 gene

Synonyms

MMRRC Submission

041064-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.926) question?

Stock #

R4248 (G1)

Quality Score

225

Status

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: 99.2%
3x: 98.7%
10x: 97.4%
20x: 95.5%

Validation Efficiency

100% (32/32)

Allele List at MGI

Other mutations in this stock

Total: 26 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Alox12b	G	A	11: 69,054,431 (GRCm39)	V250I	probably benign	Het
Armt1	T	C	10: 4,389,687 (GRCm39)	F115L	probably benign	Het
Cdh9	T	C	15: 16,850,474 (GRCm39)	F536L	probably benign	Het
Fbxo25	T	C	8: 13,989,617 (GRCm39)	S355P	probably damaging	Het
Fhod3	A	G	18: 25,123,123 (GRCm39)	K271R	probably null	Het
Gapt	C	A	13: 110,490,289 (GRCm39)	V125F	probably damaging	Het
Gucd1	A	T	10: 75,345,662 (GRCm39)	V131E	probably damaging	Het
Hecw2	C	T	1: 53,871,804 (GRCm39)	V1381M	probably damaging	Het
Hivep2	A	G	10: 14,007,299 (GRCm39)	E1299G	probably damaging	Het
Hnf4g	A	G	3: 3,717,909 (GRCm39)	D342G	possibly damaging	Het
Kmt2b	C	T	7: 30,273,489 (GRCm39)	R2349H	probably benign	Het
Lama5	C	T	2: 179,822,220 (GRCm39)	R2896Q	possibly damaging	Het
Moxd2	A	C	6: 40,855,933 (GRCm39)	I552S	probably damaging	Het
Nkx1-2	TGGTGAGAGGGGGCCGCCTTGGCCCCG	TG	7: 132,201,209 (GRCm39)		probably null	Het
Onecut3	A	G	10: 80,349,963 (GRCm39)	T486A	possibly damaging	Het
Or8g36	A	G	9: 39,422,899 (GRCm39)	V39A	probably benign	Het
Pik3cb	T	C	9: 98,983,229 (GRCm39)		probably null	Het
Pirb	A	G	7: 3,722,297 (GRCm39)	F182S	probably damaging	Het
Rev1	C	T	1: 38,146,729 (GRCm39)	R34H	possibly damaging	Het
Satl1	A	G	X: 111,316,033 (GRCm39)	S141P	probably benign	Het
Setx	GTGGCT	GT	2: 29,044,073 (GRCm39)	1814	probably null	Het
Snx8	A	G	5: 140,341,800 (GRCm39)	L121P	probably damaging	Het
Tep1	T	C	14: 51,100,351 (GRCm39)	H389R	possibly damaging	Het
Tnfrsf1b	G	A	4: 144,942,535 (GRCm39)	A416V	probably benign	Het
Ust	A	T	10: 8,393,982 (GRCm39)	L61Q	possibly damaging	Het
Vmn2r101	A	T	17: 19,809,376 (GRCm39)	K168N	probably damaging	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
R4249:2700062C07Rik	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'- ACCAGCACACTTGTAGAGTC -3'

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

Posted On

2015-06-12