Mutagenetix > Incidental Mutation

Incidental Mutation 'R5539:2310034C09Rik'

435846

Institutional Source

Beutler Lab

Gene Symbol

2310034C09Rik

Ensembl Gene

ENSMUSG00000068078

Gene Name

RIKEN cDNA 2310034C09 gene

Synonyms

MMRRC Submission

043097-MU

Accession Numbers

Essential gene?

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

Stock #

R5539 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

88555735-88556677 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 88555917 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Cysteine at position 44 (S44C)

Ref Sequence

ENSEMBL: ENSMUSP00000140130 (fasta)

Gene Model

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

AlphaFold

Q9D746

Predicted Effect

probably damaging
Transcript: ENSMUST00000089111
AA Change: S44C

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000140130
Gene: ENSMUSG00000068078
AA Change: S44C

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000193708
AA Change: S44C

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000202557
AA Change: S44C

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.6%
20x: 96.1%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 44 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca4	A	G	3: 121,963,557 (GRCm39)	I846V	probably damaging	Het
Aldh4a1	T	C	4: 139,365,833 (GRCm39)	S275P	probably benign	Het
Arhgap12	A	T	18: 6,111,932 (GRCm39)	L144H	probably benign	Het
Ccdc141	A	T	2: 76,845,437 (GRCm39)	I1210N	probably damaging	Het
Ccdc175	T	C	12: 72,191,587 (GRCm39)	T330A	probably benign	Het
Cybb	C	G	X: 9,316,989 (GRCm39)	D246H	probably benign	Het
Dnah17	T	C	11: 117,964,486 (GRCm39)	K2444E	probably benign	Het
Dnajc3	G	A	14: 119,208,159 (GRCm39)	V265M	probably damaging	Het
Flg2	T	A	3: 93,127,753 (GRCm39)	Y2222N	unknown	Het
Flnc	G	T	6: 29,446,229 (GRCm39)	G882V	probably damaging	Het
Fndc5	T	A	4: 129,032,514 (GRCm39)	V39D	probably damaging	Het
Gabrr3	A	T	16: 59,281,758 (GRCm39)	H371L	probably benign	Het
Gm10717	A	T	9: 3,030,438 (GRCm39)	H33L	probably damaging	Het
Gm5422	A	G	10: 31,124,646 (GRCm39)		noncoding transcript	Het
Kri1	G	A	9: 21,190,668 (GRCm39)	Q280*	probably null	Het
Lcp1	T	C	14: 75,466,738 (GRCm39)	V615A	probably benign	Het
Ltbp4	T	C	7: 27,027,149 (GRCm39)	Y407C	probably damaging	Het
Med30	G	T	15: 52,584,462 (GRCm39)	D127Y	probably damaging	Het
Mybpc2	A	G	7: 44,164,317 (GRCm39)	V416A	probably benign	Het
Notch2	C	T	3: 98,044,898 (GRCm39)	R1607C	probably damaging	Het
Nr4a3	T	A	4: 48,056,525 (GRCm39)		probably null	Het
Ntf5	G	T	7: 45,065,354 (GRCm39)	R162L	probably benign	Het
Nxpe3	A	G	16: 55,711,034 (GRCm39)	W2R	possibly damaging	Het
Or10d1c	T	C	9: 38,893,573 (GRCm39)	I256V	possibly damaging	Het
Or14j4	T	A	17: 37,921,646 (GRCm39)	M1L	probably benign	Het
Or1m1	G	A	9: 18,666,134 (GRCm39)	R266C	probably damaging	Het
Or5p58	A	T	7: 107,694,433 (GRCm39)	C115S	probably benign	Het
Pan2	C	A	10: 128,144,002 (GRCm39)	D99E	probably benign	Het
Pcdh12	T	C	18: 38,414,797 (GRCm39)	H776R	possibly damaging	Het
Prdm2	T	C	4: 142,859,264 (GRCm39)	H1342R	possibly damaging	Het
Prpf8	A	G	11: 75,394,464 (GRCm39)	T1800A	probably benign	Het
Prss40	T	C	1: 34,591,760 (GRCm39)	*148W	probably null	Het
Pygo1	C	T	9: 72,852,061 (GRCm39)	P83S	probably damaging	Het
Raf1	G	T	6: 115,596,317 (GRCm39)	S619R	probably damaging	Het
Rtf1	A	G	2: 119,560,405 (GRCm39)	M596V	possibly damaging	Het
Slc12a5	T	A	2: 164,829,126 (GRCm39)	D578E	possibly damaging	Het
Slc35b4	A	G	6: 34,153,737 (GRCm39)	V18A	probably damaging	Het
Spata31	T	A	13: 65,070,783 (GRCm39)	I977K	probably benign	Het
Tor2a	T	C	2: 32,650,672 (GRCm39)	I222T	probably damaging	Het
Trim23	T	C	13: 104,334,541 (GRCm39)	V347A	probably damaging	Het
Trip11	A	G	12: 101,851,386 (GRCm39)	S893P	probably damaging	Het
Trmt10c	G	A	16: 55,855,324 (GRCm39)	P104S	probably damaging	Het
Ubr3	A	T	2: 69,850,877 (GRCm39)	Y1765F	probably damaging	Het
Zfp951	C	T	5: 104,962,712 (GRCm39)	E285K	probably damaging	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
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
R6641:2310034C09Rik	UTSW	16	88,555,974 (GRCm39)	missense	unknown
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'- GAGTATATAAACCCGGCTCTCCAC -3'
(R):5'- GCTAATGGGCTCAATGCAGG -3'

Sequencing Primer
(F):5'- TCCACTGGGTGACATTCAAACTC -3'
(R):5'- TAATGGGCTCAATGCAGGTCTCC -3'

Posted On

2016-10-24