Mutagenetix > Incidental Mutations

Incidental Mutation 'R8412:1700056E22Rik'

652717

Institutional Source

Beutler Lab

Gene Symbol

1700056E22Rik

Ensembl Gene

ENSMUSG00000044854

Gene Name

RIKEN cDNA 1700056E22 gene

Synonyms

MMRRC Submission

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.066) question?

Stock #

R8412 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

184033030-184034301 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 184033159 bp

Zygosity

Heterozygous

Amino Acid Change

Arginine to Serine at position 234 (R234S)

Ref Sequence

ENSEMBL: ENSMUSP00000055787 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000048655] [ENSMUST00000050306] [ENSMUST00000139839]

Predicted Effect

probably benign
Transcript: ENSMUST00000048655

SMART Domains

Protein: ENSMUSP00000045838
Gene: ENSMUSG00000039384

Domain	Start	End	E-Value	Type
low complexity region	33	59	N/A	INTRINSIC
low complexity region	92	111	N/A	INTRINSIC
low complexity region	124	142	N/A	INTRINSIC
RHOD	159	283	1.71e-11	SMART
DSPc	322	462	1.43e-54	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000050306
AA Change: R234S

PolyPhen 2 Score 0.958 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000055787
Gene: ENSMUSG00000044854
AA Change: R234S

Domain	Start	End	E-Value	Type
SCOP:d1howa_	12	46	7e-3	SMART
low complexity region	81	115	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000139839

SMART Domains

Protein: ENSMUSP00000121433
Gene: ENSMUSG00000039384

Domain	Start	End	E-Value	Type
low complexity region	33	59	N/A	INTRINSIC
low complexity region	92	111	N/A	INTRINSIC
low complexity region	124	142	N/A	INTRINSIC

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.7%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ace	T	A	11: 105,979,266	F806Y	probably benign	Het
Ak8	A	G	2: 28,739,631	T286A	probably benign	Het
Apba2	T	A	7: 64,745,798	F674Y	probably damaging	Het
Apob	A	G	12: 8,008,069	I2184V	probably benign	Het
Arhgap23	C	T	11: 97,466,028	P884L	probably benign	Het
Atg2a	T	C	19: 6,244,524	L90P	probably damaging	Het
Bhmt2	T	A	13: 93,662,312	I334F	possibly damaging	Het
Bmi1	C	T	2: 18,684,303	T266I	probably damaging	Het
Cdh26	A	G	2: 178,462,724	I301V	probably damaging	Het
Cenpx	A	T	11: 120,711,732	H68Q	unknown	Het
Cnot10	T	C	9: 114,610,670	R524G	probably benign	Het
Cnpy1	A	T	5: 28,209,208	Y22*	probably null	Het
Csmd3	C	T	15: 47,636,398	R2114H		Het
Defa29	T	A	8: 21,326,046	T102S	probably benign	Het
Fras1	T	C	5: 96,596,852	I582T	probably benign	Het
Gm14295	G	A	2: 176,809,629	C304Y	probably damaging	Het
Gucy2d	T	C	7: 98,443,839	V141A	possibly damaging	Het
Ifi47	A	C	11: 49,095,598	Q64P	probably damaging	Het
Irx3	G	T	8: 91,800,400	S225R	possibly damaging	Het
Itpr1	A	G	6: 108,363,620	H289R	probably benign	Het
Lamc3	A	G	2: 31,912,116	D512G	probably damaging	Het
Mcm3	C	T	1: 20,816,756	V142I	probably benign	Het
Med23	C	A	10: 24,908,734	F1200L	probably benign	Het
Ndst4	A	T	3: 125,570,790	D372V	possibly damaging	Het
Nob1	T	A	8: 107,421,598	K71*	probably null	Het
Ntrk3	A	G	7: 78,356,149	I488T	probably benign	Het
Pds5b	G	T	5: 150,719,959	C82F	probably damaging	Het
Pkd1l3	T	A	8: 109,633,390	V969E	possibly damaging	Het
Ppme1	A	T	7: 100,335,091	N307K	probably benign	Het
Pus7l	C	T	15: 94,527,975	C515Y	probably benign	Het
Rpp21	T	A	17: 36,257,699	H22L	possibly damaging	Het
Scamp3	T	C	3: 89,181,218	F244L	probably damaging	Het
Scgb1b7	A	T	7: 31,712,954	K52*	probably null	Het
Slc12a3	T	C	8: 94,334,067	I261T	probably damaging	Het
Slc19a3	C	T	1: 83,014,812	R396H	probably damaging	Het
Slc22a14	T	C	9: 119,180,856	I58V	probably benign	Het
Slc9a9	A	C	9: 95,229,039	T637P	probably damaging	Het
Snrnp40	T	A	4: 130,384,523	C274S	possibly damaging	Het
Sptbn1	A	G	11: 30,138,457	V905A	probably damaging	Het
Taok3	A	G	5: 117,266,037	D759G	possibly damaging	Het
Tas1r1	T	C	4: 152,032,576	I200M	probably benign	Het
Tnfrsf25	T	C	4: 152,119,682	V360A	possibly damaging	Het
Trim12a	A	T	7: 104,304,337	M189K	possibly damaging	Het
Tspan32	T	C	7: 143,005,958	F41L	probably benign	Het
Tube1	T	A	10: 39,145,661	S301T	possibly damaging	Het
Usp8	T	C	2: 126,742,658	S596P	probably benign	Het
Virma	T	A	4: 11,521,261		probably null	Het
Vmn2r58	T	C	7: 41,864,298	D307G	probably benign	Het
Zeb2	T	C	2: 44,998,952	K327R	probably damaging	Het
Zfp54	C	T	17: 21,434,648	T468M	probably benign	Het
Zfp780b	A	T	7: 27,963,126	I668N	possibly damaging	Het

Other mutations in 1700056E22Rik

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R0630:1700056E22Rik	UTSW	1	184033907	intron	probably benign
R0830:1700056E22Rik	UTSW	1	184033427	missense	probably damaging	0.99
R0973:1700056E22Rik	UTSW	1	184033505	missense	probably benign
R0976:1700056E22Rik	UTSW	1	184033505	missense	probably benign
R1013:1700056E22Rik	UTSW	1	184033505	missense	probably benign
R1103:1700056E22Rik	UTSW	1	184033505	missense	probably benign
R1104:1700056E22Rik	UTSW	1	184033505	missense	probably benign
R1241:1700056E22Rik	UTSW	1	184033505	missense	probably benign
R1804:1700056E22Rik	UTSW	1	184033203	missense	probably benign	0.02
R1920:1700056E22Rik	UTSW	1	184033631	missense	probably benign	0.19
R4705:1700056E22Rik	UTSW	1	184033172	missense	possibly damaging	0.90
R5135:1700056E22Rik	UTSW	1	184033506	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- ATGTCTGGGGCCTAAAGCAAAC -3'
(R):5'- TTGAACAGCCAGAATGAGCG -3'

Sequencing Primer
(F):5'- GGGCCTAAAGCAAACGCCTC -3'
(R):5'- CAGAATGAGCGGCGCTTG -3'

Posted On

2020-10-20