Mutagenetix > Incidental Mutations

Incidental Mutation 'R5143:4930522L14Rik'

396515

Institutional Source

Beutler Lab

Gene Symbol

4930522L14Rik

Ensembl Gene

ENSMUSG00000072762

Gene Name

RIKEN cDNA 4930522L14 gene

Synonyms

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.165) question?

Stock #

R5143 (G1)

Quality Score

212

Status

Not validated

Chromosome

Chromosomal Location

109735990-109751886 bp(-) (GRCm38)

Type of Mutation

critical splice donor site (1 bp from exon)

DNA Base Change (assembly)

C to T at 109739198 bp

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000108166 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000100937] [ENSMUST00000112547]

Predicted Effect

probably null
Transcript: ENSMUST00000100937

SMART Domains

Protein: ENSMUSP00000098497
Gene: ENSMUSG00000072762

Domain	Start	End	E-Value	Type
KRAB	4	64	5.37e-15	SMART

Predicted Effect

probably null
Transcript: ENSMUST00000112547

SMART Domains

Protein: ENSMUSP00000108166
Gene: ENSMUSG00000072762

Domain	Start	End	E-Value	Type
KRAB	4	66	7.19e-16	SMART
ZnF_C2H2	103	125	2.75e-3	SMART
ZnF_C2H2	131	153	1.72e-4	SMART
ZnF_C2H2	159	181	7.9e-4	SMART
ZnF_C2H2	187	209	1.04e-3	SMART
ZnF_C2H2	215	237	1.1e-2	SMART
ZnF_C2H2	243	265	3.89e-3	SMART
ZnF_C2H2	271	294	3.69e-4	SMART
ZnF_C2H2	300	322	5.9e-3	SMART
ZnF_C2H2	328	350	1.56e-2	SMART
ZnF_C2H2	356	378	1.18e-2	SMART
ZnF_C2H2	384	406	9.08e-4	SMART
ZnF_C2H2	412	434	1.98e-4	SMART
ZnF_C2H2	440	462	2.61e-4	SMART
ZnF_C2H2	468	491	1.38e-3	SMART
ZnF_C2H2	497	519	3.39e-3	SMART
ZnF_C2H2	525	547	1.4e-4	SMART
ZnF_C2H2	553	576	1.95e-3	SMART
ZnF_C2H2	582	604	5.14e-3	SMART
ZnF_C2H2	610	632	1.67e-2	SMART
ZnF_C2H2	638	660	1.72e-4	SMART

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.4%
20x: 95.5%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 36 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc2	T	C	19: 43,821,661	I886T	probably benign	Het
Adrb2	T	C	18: 62,178,776	Y326C	probably damaging	Het
AF366264	A	G	8: 13,836,844	S416P	possibly damaging	Het
Aplp1	G	A	7: 30,441,123	R334C	probably damaging	Het
AY358078	T	C	14: 51,802,549	S39P	unknown	Het
Bpifb2	A	T	2: 153,878,504	D61V	probably damaging	Het
Caap1	A	T	4: 94,501,382	N238K	probably damaging	Het
Cfap54	A	G	10: 93,029,158	V726A	possibly damaging	Het
Chrna7	T	C	7: 63,106,147	Y217C	probably damaging	Het
Crocc	T	A	4: 141,041,039	T414S	probably benign	Het
Cyp2a12	A	G	7: 27,036,611	I482V	probably benign	Het
Dnah6	A	T	6: 73,181,761	F620I	possibly damaging	Het
Eogt	A	G	6: 97,125,584	L256P	probably damaging	Het
F5	A	G	1: 164,211,828	I2002M	probably damaging	Het
Foxp1	A	G	6: 98,945,532		probably null	Het
Fut8	A	G	12: 77,365,209	D111G	probably benign	Het
Gm17689	T	A	9: 36,581,904	N41Y	probably benign	Het
Golgb1	C	T	16: 36,898,689	A319V	probably benign	Het
Hoxd3	C	T	2: 74,746,372	R39C	probably damaging	Het
Mfng	C	T	15: 78,764,388	R163H	probably benign	Het
Olfr690	T	A	7: 105,329,524	I223F	probably damaging	Het
Pcdhb2	A	G	18: 37,296,732	Y586C	probably damaging	Het
Plcd1	G	A	9: 119,074,451	Q442*	probably null	Het
Plppr5	A	G	3: 117,625,903	T207A	probably benign	Het
Pomt1	C	A	2: 32,254,329	A709E	probably benign	Het
Prmt8	A	G	6: 127,732,714	M61T	probably benign	Het
Ptpn23	A	G	9: 110,385,438		probably benign	Het
Sbf2	T	A	7: 110,422,540	K493*	probably null	Het
Tmc2	A	T	2: 130,234,818	S355C	probably damaging	Het
Tonsl	A	G	15: 76,636,657	S399P	possibly damaging	Het
Ttc14	T	C	3: 33,808,901		probably benign	Het
Ttn	A	G	2: 76,738,065	S19168P	probably damaging	Het
Usp17lb	A	T	7: 104,841,478	S80T	probably damaging	Het
Vmn2r96	A	G	17: 18,583,858	I457V	possibly damaging	Het
Wdr64	G	T	1: 175,726,413	D170Y	probably damaging	Het
Zbtb42	T	C	12: 112,679,514	V41A	probably damaging	Het

Other mutations in 4930522L14Rik

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02622:4930522L14Rik	APN	5	109739235	missense	possibly damaging	0.86
R0164:4930522L14Rik	UTSW	5	109736847	missense	probably damaging	0.96
R0164:4930522L14Rik	UTSW	5	109736847	missense	probably damaging	0.96
R0432:4930522L14Rik	UTSW	5	109736919	missense	probably damaging	1.00
R0463:4930522L14Rik	UTSW	5	109737060	unclassified	probably benign
R0891:4930522L14Rik	UTSW	5	109736290	missense	possibly damaging	0.47
R1289:4930522L14Rik	UTSW	5	109736890	nonsense	probably null
R1637:4930522L14Rik	UTSW	5	109738992	missense	probably benign	0.01
R1764:4930522L14Rik	UTSW	5	109736789	missense	probably benign	0.22
R1793:4930522L14Rik	UTSW	5	109736278	missense	probably damaging	1.00
R1860:4930522L14Rik	UTSW	5	109736232	missense	probably damaging	1.00
R1899:4930522L14Rik	UTSW	5	109736798	missense	probably benign	0.04
R2135:4930522L14Rik	UTSW	5	109737643	missense	probably benign	0.00
R2143:4930522L14Rik	UTSW	5	109736750	missense	probably damaging	1.00
R2877:4930522L14Rik	UTSW	5	109738945	splice site	probably benign
R3847:4930522L14Rik	UTSW	5	109736324	splice site	probably null
R4431:4930522L14Rik	UTSW	5	109736574	missense	possibly damaging	0.47
R4578:4930522L14Rik	UTSW	5	109736671	nonsense	probably null
R4611:4930522L14Rik	UTSW	5	109737393	missense	probably benign	0.00
R4776:4930522L14Rik	UTSW	5	109736873	missense	probably benign	0.22
R4921:4930522L14Rik	UTSW	5	109737796	missense	probably benign	0.25
R4937:4930522L14Rik	UTSW	5	109736201	missense	probably benign	0.12
R4952:4930522L14Rik	UTSW	5	109739197	critical splice donor site	probably null
R4980:4930522L14Rik	UTSW	5	109737426	missense	probably damaging	1.00
R5079:4930522L14Rik	UTSW	5	109737330	missense	probably benign
R5088:4930522L14Rik	UTSW	5	109736073	missense	probably damaging	1.00
R5183:4930522L14Rik	UTSW	5	109739305	missense	probably damaging	1.00
R5461:4930522L14Rik	UTSW	5	109736777	missense	possibly damaging	0.74
R5498:4930522L14Rik	UTSW	5	109737547	missense	probably benign	0.05
R5576:4930522L14Rik	UTSW	5	109737704	missense	probably benign	0.00
R6081:4930522L14Rik	UTSW	5	109739231	missense	probably damaging	1.00
R6387:4930522L14Rik	UTSW	5	109737015	missense	possibly damaging	0.88
R6509:4930522L14Rik	UTSW	5	109737384	nonsense	probably null
R6585:4930522L14Rik	UTSW	5	109737668	missense	probably damaging	1.00
R7309:4930522L14Rik	UTSW	5	109736953	missense	probably damaging	1.00
R7740:4930522L14Rik	UTSW	5	109737504	nonsense	probably null
R7877:4930522L14Rik	UTSW	5	109736364	missense	probably damaging	1.00
R8526:4930522L14Rik	UTSW	5	109737789	missense	possibly damaging	0.92

Predicted Primers

PCR Primer
(F):5'- AGCCTAAAACATAGTACCAGAAAATG -3'
(R):5'- CTGATGTGTGCTCAGTACTGCT -3'

Sequencing Primer
(F):5'- cctcattcttcctcattctc -3'
(R):5'- CAGTTTCCTTCTAAGATGACTTGG -3'

Posted On

2016-06-21