Mutagenetix > Incidental Mutation

Incidental Mutation 'R0976:1700056E22Rik'

81128

Institutional Source

Beutler Lab

Gene Symbol

1700056E22Rik

Ensembl Gene

ENSMUSG00000044854

Gene Name

RIKEN cDNA 1700056E22 gene

Synonyms

MMRRC Submission

039105-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.053) question?

Stock #

R0976 (G1)

Quality Score

Status

Not validated

Chromosome

Chromosomal Location

183765229-183766195 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 183765702 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Asparagine at position 119 (S119N)

Ref Sequence

ENSEMBL: ENSMUSP00000055787 (fasta)

Gene Model

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

AlphaFold

F7CNM6

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 benign
Transcript: ENSMUST00000050306
AA Change: S119N

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

SMART Domains

Protein: ENSMUSP00000055787
Gene: ENSMUSG00000044854
AA Change: S119N

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000193919

Coding Region Coverage

1x: 99.8%
3x: 99.3%
10x: 97.6%
20x: 95.2%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 37 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Arap2	T	A	5: 62,807,227 (GRCm39)	I1147F	probably damaging	Het
Arl10	T	C	13: 54,723,621 (GRCm39)		probably benign	Het
Axin1	A	G	17: 26,407,060 (GRCm39)	E551G	probably damaging	Het
Ccr6	T	A	17: 8,475,254 (GRCm39)	L153Q	probably damaging	Het
Cntnap2	C	T	6: 47,248,164 (GRCm39)	P1190L	probably damaging	Het
Cul7	T	A	17: 46,974,116 (GRCm39)	L1467H	probably damaging	Het
Cux1	T	A	5: 136,342,144 (GRCm39)	D416V	probably damaging	Het
Cyp2c67	G	T	19: 39,631,818 (GRCm39)	F126L	probably damaging	Het
Cyp3a57	A	G	5: 145,327,278 (GRCm39)	I490V	probably benign	Het
Dsc1	T	C	18: 20,228,098 (GRCm39)		probably null	Het
Fam83f	T	A	15: 80,576,285 (GRCm39)	V312E	probably damaging	Het
Fsip2	A	G	2: 82,828,375 (GRCm39)	D6724G	possibly damaging	Het
Gabrr3	G	T	16: 59,281,887 (GRCm39)	C414F	probably benign	Het
Gm21738	T	C	14: 19,415,963 (GRCm38)	K192R	probably benign	Het
H2bc18	T	A	3: 96,177,402 (GRCm39)	V112E	probably benign	Het
Herc1	A	T	9: 66,347,160 (GRCm39)	K2005M	possibly damaging	Het
Isyna1	C	A	8: 71,048,936 (GRCm39)	N338K	probably damaging	Het
Kalrn	T	C	16: 34,205,760 (GRCm39)	D39G	probably damaging	Het
Mndal	T	A	1: 173,690,411 (GRCm39)	R306S	possibly damaging	Het
Nek2	A	G	1: 191,559,349 (GRCm39)	R285G	probably benign	Het
Nrg2	A	G	18: 36,154,144 (GRCm39)	I591T	probably benign	Het
Or8u8	A	G	2: 86,012,152 (GRCm39)	L101S	probably damaging	Het
Pcdh10	T	C	3: 45,335,236 (GRCm39)	S517P	probably damaging	Het
Pdcd2l	G	T	7: 33,895,771 (GRCm39)	D67E	probably benign	Het
Pex1	C	A	5: 3,683,943 (GRCm39)	D1146E	probably benign	Het
Pid1	A	T	1: 84,136,946 (GRCm39)	Y62N	probably benign	Het
Ppp4r1	T	C	17: 66,148,013 (GRCm39)	*935R	probably null	Het
Stag1	T	C	9: 100,658,877 (GRCm39)	F155L	probably damaging	Het
Stag1	G	A	9: 100,812,069 (GRCm39)		probably null	Het
Taok2	C	T	7: 126,474,323 (GRCm39)	R302Q	possibly damaging	Het
Tbc1d8	A	G	1: 39,445,882 (GRCm39)	V103A	probably damaging	Het
Terf2ip	T	A	8: 112,738,349 (GRCm39)	I79N	probably damaging	Het
Tgfb3	G	A	12: 86,116,606 (GRCm39)	T144I	probably damaging	Het
Top1	A	G	2: 160,559,343 (GRCm39)	N622S	possibly damaging	Het
Trappc9	T	A	15: 72,871,823 (GRCm39)	Q489L	probably damaging	Het
Vmn2r69	T	C	7: 85,056,108 (GRCm39)	T677A	probably damaging	Het
Wdr35	T	C	12: 9,036,104 (GRCm39)	F292L	probably benign	Het

Other mutations in 1700056E22Rik

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R0630:1700056E22Rik	UTSW	1	183,766,104 (GRCm39)	intron	probably benign
R0830:1700056E22Rik	UTSW	1	183,765,624 (GRCm39)	missense	probably damaging	0.99
R0973:1700056E22Rik	UTSW	1	183,765,702 (GRCm39)	missense	probably benign
R1013:1700056E22Rik	UTSW	1	183,765,702 (GRCm39)	missense	probably benign
R1103:1700056E22Rik	UTSW	1	183,765,702 (GRCm39)	missense	probably benign
R1104:1700056E22Rik	UTSW	1	183,765,702 (GRCm39)	missense	probably benign
R1241:1700056E22Rik	UTSW	1	183,765,702 (GRCm39)	missense	probably benign
R1804:1700056E22Rik	UTSW	1	183,765,400 (GRCm39)	missense	probably benign	0.02
R1920:1700056E22Rik	UTSW	1	183,765,828 (GRCm39)	missense	probably benign	0.19
R4705:1700056E22Rik	UTSW	1	183,765,369 (GRCm39)	missense	possibly damaging	0.90
R5135:1700056E22Rik	UTSW	1	183,765,703 (GRCm39)	missense	probably benign
R8412:1700056E22Rik	UTSW	1	183,765,356 (GRCm39)	missense	probably damaging	0.96

Predicted Primers

PCR Primer
(F):5'- TGACATACCCCGACCAGTAGTGAC -3'
(R):5'- AGTGTCCATCCAACTTTCCCCAGG -3'

Sequencing Primer
(F):5'- AGTAGTGACCCCTCTGATGGAC -3'
(R):5'- CAACCTGTTCTCAGGAGCC -3'

Posted On

2013-11-07