Mutagenetix > Incidental Mutation

Incidental Mutation 'R6641:2310034C09Rik'

525821

Institutional Source

Beutler Lab

Gene Symbol

2310034C09Rik

Ensembl Gene

ENSMUSG00000068078

Gene Name

RIKEN cDNA 2310034C09 gene

Synonyms

MMRRC Submission

044762-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.077) question?

Stock #

R6641 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

88555735-88556677 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 88555974 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Proline to Serine at position 63 (P63S)

Ref Sequence

ENSEMBL: ENSMUSP00000140130 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000089111]

AlphaFold

Q9D746

Predicted Effect

unknown
Transcript: ENSMUST00000089111
AA Change: P63S

SMART Domains

Protein: ENSMUSP00000140130
Gene: ENSMUSG00000068078
AA Change: P63S

Domain	Start	End	E-Value	Type
Pfam:PMG	1	87	7.7e-29	PFAM
Pfam:Keratin_B2_2	54	104	1.4e-7	PFAM
Pfam:PMG	84	209	1.3e-43	PFAM
Pfam:Keratin_B2_2	85	139	3.9e-5	PFAM

Coding Region Coverage

1x: 99.9%
3x: 99.5%
10x: 97.4%
20x: 91.6%

Validation Efficiency

100% (32/32)

Allele List at MGI

Other mutations in this stock

Total: 35 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aadac	T	C	3: 59,947,153 (GRCm39)	S284P	probably damaging	Het
Casp12	G	A	9: 5,354,612 (GRCm39)	C257Y	probably benign	Het
Chil6	T	A	3: 106,296,240 (GRCm39)	I361F	possibly damaging	Het
Cubn	A	C	2: 13,480,875 (GRCm39)	S327A	probably damaging	Het
Desi2	A	T	1: 178,071,943 (GRCm39)	E82D	possibly damaging	Het
Dym	T	A	18: 75,189,712 (GRCm39)	I100N	probably damaging	Het
Gm14418	G	T	2: 177,079,623 (GRCm39)	T124K	probably benign	Het
Gm28042	T	A	2: 119,870,164 (GRCm39)	I701N	probably damaging	Het
Gm3404	C	A	5: 146,464,518 (GRCm39)	A173D	probably damaging	Het
Hipk1	A	T	3: 103,660,721 (GRCm39)	L738Q	probably damaging	Het
Klk10	G	T	7: 43,434,324 (GRCm39)	D239Y	possibly damaging	Het
Kmt2a	T	C	9: 44,731,132 (GRCm39)		probably benign	Het
Lepr	T	A	4: 101,622,502 (GRCm39)	D427E	probably damaging	Het
Lrp5	G	A	19: 3,702,287 (GRCm39)	R177W	probably damaging	Het
Mtg2	A	G	2: 179,727,301 (GRCm39)	T318A	probably benign	Het
Myh7	A	G	14: 55,219,737 (GRCm39)	V1044A	probably benign	Het
Nrsn2	A	G	2: 152,211,830 (GRCm39)	V67A	probably benign	Het
Or2b11	T	C	11: 59,461,666 (GRCm39)	D300G	possibly damaging	Het
Pcdha8	A	G	18: 37,126,850 (GRCm39)	E444G	probably damaging	Het
Pdgfra	T	C	5: 75,322,762 (GRCm39)		probably benign	Het
Pik3c2a	T	C	7: 115,939,460 (GRCm39)		probably null	Het
Prpf40a	T	G	2: 53,031,638 (GRCm39)		probably benign	Het
Reln	A	C	5: 22,134,132 (GRCm39)	Y2599D	probably damaging	Het
Septin11	T	A	5: 93,287,411 (GRCm39)	I42N	probably damaging	Het
Slc22a15	G	A	3: 101,783,022 (GRCm39)	A216V	possibly damaging	Het
Slc33a1	T	A	3: 63,861,327 (GRCm39)	T292S	probably benign	Het
Slc5a11	A	G	7: 122,837,378 (GRCm39)	K56R	probably benign	Het
Slc7a13	G	A	4: 19,839,534 (GRCm39)	G379E	probably damaging	Het
Spata31g1	A	G	4: 42,971,245 (GRCm39)	I193V	possibly damaging	Het
Specc1l	A	G	10: 75,082,383 (GRCm39)	E593G	probably damaging	Het
Spef2	A	T	15: 9,626,059 (GRCm39)	M1169K	probably damaging	Het
Tmem161b	C	A	13: 84,370,537 (GRCm39)		probably benign	Het
Vipr1	A	G	9: 121,498,631 (GRCm39)	*460W	probably null	Het
Zbtb18	T	A	1: 177,275,609 (GRCm39)	L323Q	probably damaging	Het
Zfyve1	A	G	12: 83,641,270 (GRCm39)	S129P	probably benign	Het

Other mutations in 2310034C09Rik

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R2143:2310034C09Rik	UTSW	16	88,556,053 (GRCm39)	missense	probably benign
R4500:2310034C09Rik	UTSW	16	88,556,429 (GRCm39)	nonsense	probably null
R5539:2310034C09Rik	UTSW	16	88,555,917 (GRCm39)	missense	probably damaging	1.00
R5559:2310034C09Rik	UTSW	16	88,555,981 (GRCm39)	missense	unknown
R5604:2310034C09Rik	UTSW	16	88,556,278 (GRCm39)	missense	possibly damaging	0.65
R6000:2310034C09Rik	UTSW	16	88,556,427 (GRCm39)	missense	possibly damaging	0.96
R7199:2310034C09Rik	UTSW	16	88,555,902 (GRCm39)	missense	probably damaging	0.98
R7436:2310034C09Rik	UTSW	16	88,556,242 (GRCm39)	missense	probably benign	0.44
R7596:2310034C09Rik	UTSW	16	88,556,224 (GRCm39)	missense	probably damaging	0.99
R7682:2310034C09Rik	UTSW	16	88,556,373 (GRCm39)	missense	probably benign	0.00
R7947:2310034C09Rik	UTSW	16	88,555,938 (GRCm39)	missense	probably benign	0.00
R8049:2310034C09Rik	UTSW	16	88,555,992 (GRCm39)	missense	probably benign
R8337:2310034C09Rik	UTSW	16	88,556,151 (GRCm39)	missense	probably damaging	1.00
R8434:2310034C09Rik	UTSW	16	88,556,260 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TCGCTGTTAACATCCAACCC -3'
(R):5'- GATAGTAGCAGGGCTTCTGG -3'

Sequencing Primer
(F):5'- AACATGGCCTACAGCTGCTG -3'
(R):5'- AGGGCTTCTGGCAGGAAC -3'

Posted On

2018-06-22