Mutagenetix > Incidental Mutation

Incidental Mutation 'R2170:1700030J22Rik'

237433

Institutional Source

Beutler Lab

Gene Symbol

1700030J22Rik

Ensembl Gene

ENSMUSG00000031847

Gene Name

RIKEN cDNA 1700030J22 gene

Synonyms

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.055) question?

Stock #

R2170 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

117696333-117705698 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 117697896 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 404 (S404P)

Ref Sequence

ENSEMBL: ENSMUSP00000148789 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000070577] [ENSMUST00000213068]

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000070577
AA Change: S404P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000070601
Gene: ENSMUSG00000031847
AA Change: S404P

Domain	Start	End	E-Value	Type
Pfam:DUF4529	1	409	7.5e-188	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000213068
AA Change: S404P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

Coding Region Coverage

1x: 99.2%
3x: 98.7%
10x: 97.5%
20x: 95.6%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 37 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933434E20Rik	T	A	3: 89,963,611 (GRCm39)	L89Q	probably benign	Het
Atxn2l	T	A	7: 126,102,411 (GRCm39)		probably benign	Het
Bcl6	A	G	16: 23,793,680 (GRCm39)	F89S	probably damaging	Het
Ccdc168	A	T	1: 44,095,168 (GRCm39)	S1977T	probably benign	Het
Ccr1l1	C	A	9: 123,778,172 (GRCm39)	V92F	possibly damaging	Het
Cdh15	G	A	8: 123,588,763 (GRCm39)	R279Q	probably damaging	Het
Chrne	T	C	11: 70,509,323 (GRCm39)	N86S	probably damaging	Het
Copg2	CCTCATC	CC	6: 30,789,757 (GRCm39)		probably null	Het
Elapor2	A	G	5: 9,529,206 (GRCm39)	D221G	probably damaging	Het
Eps8l2	T	C	7: 140,921,984 (GRCm39)	S21P	probably benign	Het
Glb1	CCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT	CCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT	9: 114,302,873 (GRCm39)		probably benign	Het
Gngt2	A	G	11: 95,728,071 (GRCm39)		probably benign	Het
Hecw2	T	A	1: 53,981,956 (GRCm39)	E135V	probably damaging	Het
Hmcn2	G	A	2: 31,270,293 (GRCm39)	A1177T	probably benign	Het
Itga10	T	C	3: 96,557,773 (GRCm39)	V272A	probably damaging	Het
Kif17	A	G	4: 138,015,682 (GRCm39)	I418M	probably benign	Het
Knl1	T	C	2: 118,918,075 (GRCm39)		probably null	Het
Lamc1	C	T	1: 153,124,888 (GRCm39)	A628T	probably benign	Het
Mag	A	T	7: 30,608,412 (GRCm39)	L234*	probably null	Het
Muc5ac	T	A	7: 141,366,084 (GRCm39)	V2080E	possibly damaging	Het
Myo18b	T	C	5: 112,871,724 (GRCm39)	D2119G	probably benign	Het
Ncam1	C	T	9: 49,709,981 (GRCm39)	A17T	probably benign	Het
Nipbl	A	G	15: 8,322,702 (GRCm39)	Y2570H	probably damaging	Het
Oasl2	T	C	5: 115,044,861 (GRCm39)	V129A	probably damaging	Het
Or14a257	T	A	7: 86,137,778 (GRCm39)	H327L	probably benign	Het
Or4k47	C	T	2: 111,451,945 (GRCm39)	S158N	possibly damaging	Het
Podn	A	T	4: 107,879,730 (GRCm39)	L85Q	probably damaging	Het
Ppp1r12c	A	T	7: 4,485,805 (GRCm39)	D680E	possibly damaging	Het
Prdm14	G	A	1: 13,192,684 (GRCm39)	L352F	probably damaging	Het
Prob1	G	T	18: 35,787,790 (GRCm39)	Q155K	probably benign	Het
Rin2	C	T	2: 145,702,366 (GRCm39)	T354I	probably benign	Het
Shoc1	A	G	4: 59,069,215 (GRCm39)	L737S	possibly damaging	Het
Stard5	A	G	7: 83,282,366 (GRCm39)	T60A	probably benign	Het
Syt7	A	G	19: 10,416,744 (GRCm39)	K402E	probably damaging	Het
Tll2	T	A	19: 41,171,714 (GRCm39)	D69V	probably damaging	Het
Vmn1r40	T	C	6: 89,691,957 (GRCm39)	F258S	probably benign	Het
Zfp759	T	A	13: 67,284,812 (GRCm39)	Y19N	possibly damaging	Het

Other mutations in 1700030J22Rik

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00272:1700030J22Rik	APN	8	117,700,279 (GRCm39)	missense	probably damaging	0.99
IGL03197:1700030J22Rik	APN	8	117,698,541 (GRCm39)	missense	probably damaging	0.96
R1372:1700030J22Rik	UTSW	8	117,698,696 (GRCm39)	missense	possibly damaging	0.62
R4893:1700030J22Rik	UTSW	8	117,697,904 (GRCm39)	missense	probably damaging	1.00
R5056:1700030J22Rik	UTSW	8	117,698,421 (GRCm39)	nonsense	probably null
R5089:1700030J22Rik	UTSW	8	117,698,672 (GRCm39)	missense	possibly damaging	0.55
R7380:1700030J22Rik	UTSW	8	117,700,376 (GRCm39)	missense	probably benign	0.25
R8935:1700030J22Rik	UTSW	8	117,698,181 (GRCm39)	missense	probably benign	0.05
R9241:1700030J22Rik	UTSW	8	117,697,937 (GRCm39)	missense	probably damaging	1.00
R9310:1700030J22Rik	UTSW	8	117,698,859 (GRCm39)	missense	possibly damaging	0.61
Z1176:1700030J22Rik	UTSW	8	117,700,336 (GRCm39)	missense	probably benign	0.08

Predicted Primers

PCR Primer
(F):5'- CTTAGCAGCAGAAGCAGGTAAC -3'
(R):5'- AAGCTGCAGAACTAGGCTC -3'

Sequencing Primer
(F):5'- GCAGGTAACATGCATACAGTGTCTTG -3'
(R):5'- GCTGCAGAACTAGGCTCAAAAC -3'

Posted On

2014-10-02