Mutagenetix > Incidental Mutations

Incidental Mutation 'R7546:1700122O11Rik'

584235

Institutional Source

Beutler Lab

Gene Symbol

1700122O11Rik

Ensembl Gene

ENSMUSG00000094928

Gene Name

RIKEN cDNA 1700122O11 gene

Synonyms

MMRRC Submission

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.072) question?

Stock #

R7546 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

48036745-48038293 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 48037521 bp

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 36 (S36P)

Ref Sequence

ENSEMBL: ENSMUSP00000137519 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000178823]

Predicted Effect

probably benign
Transcript: ENSMUST00000178823
AA Change: S36P

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000137519
Gene: ENSMUSG00000094928
AA Change: S36P

Domain	Start	End	E-Value	Type
coiled coil region	42	73	N/A	INTRINSIC

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.8%

Validation Efficiency

100% (40/40)

Allele List at MGI

Other mutations in this stock

Total: 42 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A530084C06Rik	G	T	13: 31,558,995	R92S	unknown	Het
Ampd1	A	G	3: 103,095,712	T582A	probably benign	Het
Ank1	A	C	8: 23,064,995	N57T	probably damaging	Het
Atxn3	A	G	12: 101,948,002		probably null	Het
Bace2	G	A	16: 97,399,682	A117T	probably benign	Het
Bcl2l15	A	G	3: 103,832,887	N19S	probably benign	Het
Bid	C	A	6: 120,900,151		probably null	Het
Cadps2	A	T	6: 23,626,608	M227K	probably benign	Het
Clip4	G	A	17: 71,828,702	C483Y	possibly damaging	Het
D5Ertd577e	C	T	5: 95,482,680	R139C	probably benign	Het
Dennd4a	A	G	9: 64,873,044	T621A	probably damaging	Het
E2f3	G	A	13: 29,910,129	S383L	probably damaging	Het
F2r	C	T	13: 95,618,350	V9I	probably benign	Het
Gm10424	T	A	5: 95,270,312	H275L	possibly damaging	Het
Gm14226	T	C	2: 155,025,211	S363P	probably damaging	Het
Gm156	T	C	6: 129,772,380	H84R	probably benign	Het
Gstm5	T	C	3: 107,897,294	Y65H	probably damaging	Het
H60c	A	G	10: 3,259,907	W127R	probably damaging	Het
Hist1h2bl	A	G	13: 21,715,870	S92P	probably benign	Het
Itgav	G	T	2: 83,776,550	G448*	probably null	Het
Lhx6	C	T	2: 36,103,345		probably null	Het
Manba	T	A	3: 135,570,246	V816D	probably benign	Het
March10	G	A	11: 105,390,080	P460S	not run	Het
Mmp17	T	A	5: 129,596,589	V244E	probably damaging	Het
Mtrr	C	T	13: 68,582,149		probably benign	Het
Nup160	T	C	2: 90,685,058	I170T	probably damaging	Het
Olfr1255	A	G	2: 89,817,019	N225S	probably benign	Het
Olfr1255	A	T	2: 89,817,194	L283F	probably damaging	Het
Olfr558	T	C	7: 102,709,789	S177P	probably damaging	Het
Pappa	G	A	4: 65,156,115	S302N	possibly damaging	Het
Plekhj1	G	A	10: 80,797,914	A53V	possibly damaging	Het
Prpf8	T	C	11: 75,508,374	V2157A	probably damaging	Het
Rps8	G	A	4: 117,153,907	R200W	probably damaging	Het
Sesn2	A	G	4: 132,499,843	F93L	probably damaging	Het
Slf1	A	G	13: 77,049,192	S768P	probably benign	Het
Stat4	A	G	1: 52,098,463	N471S	probably damaging	Het
Trcg1	T	C	9: 57,248,338	L758P	probably benign	Het
Trim35	A	G	14: 66,303,247	T183A	probably benign	Het
Ttc37	C	A	13: 76,134,835	L759M	probably damaging	Het
Ttr	C	A	18: 20,670,045	Y89*	probably null	Het
Zfp90	C	A	8: 106,424,691	H345Q	probably benign	Het
Zmym4	A	G	4: 126,864,168	V1531A	probably damaging	Het

Other mutations in 1700122O11Rik

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02830:1700122O11Rik	APN	17	48037426	missense	possibly damaging	0.46
IGL02927:1700122O11Rik	APN	17	48036920	nonsense	probably null
R2013:1700122O11Rik	UTSW	17	48036914	missense	possibly damaging	0.53
R2014:1700122O11Rik	UTSW	17	48036914	missense	possibly damaging	0.53
R4698:1700122O11Rik	UTSW	17	48038240	missense	possibly damaging	0.46
R5194:1700122O11Rik	UTSW	17	48037250	missense	probably benign
R6352:1700122O11Rik	UTSW	17	48037136	missense	probably benign	0.08
R6512:1700122O11Rik	UTSW	17	48036863	missense	possibly damaging	0.83

Predicted Primers

PCR Primer
(F):5'- GGCCTTGATCCTGAGCAAAAG -3'
(R):5'- AGGCCTAAATCTGGGGTGAG -3'

Sequencing Primer
(F):5'- CCGATATGGTCATAGAGTGAGGCTC -3'
(R):5'- CCTAAATCTGGGGTGAGAGTGTGAG -3'

Posted On

2019-10-17