Mutagenetix > Incidental Mutation

Incidental Mutation 'R5892:4930524J08Rik'

502022

Institutional Source

Beutler Lab

Gene Symbol

4930524J08Rik

Ensembl Gene

ENSMUSG00000035364

Gene Name

RIKEN cDNA 4930524J08 gene

Synonyms

MMRRC Submission

044093-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.101) question?

Stock #

R5892 (G1)

Quality Score

Status

Validated

Chromosome

Chromosomal Location

100126794-100127525 bp(+) (GRCm39)

Type of Mutation

unclassified

DNA Base Change (assembly)

G to T at 100127124 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000132735 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000019128] [ENSMUST00000046721] [ENSMUST00000072750] [ENSMUST00000112939] [ENSMUST00000168396] [ENSMUST00000170912] [ENSMUST00000172361] [ENSMUST00000171786]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000019128

SMART Domains

Protein: ENSMUSP00000019128
Gene: ENSMUSG00000000568

Domain	Start	End	E-Value	Type
Pfam:CBFNT	1	79	1.3e-16	PFAM
RRM	98	170	3.85e-25	SMART
RRM	183	255	7.76e-21	SMART
low complexity region	262	268	N/A	INTRINSIC
low complexity region	270	289	N/A	INTRINSIC

Predicted Effect

unknown
Transcript: ENSMUST00000046721
AA Change: G69C

SMART Domains

Protein: ENSMUSP00000043949
Gene: ENSMUSG00000035364
AA Change: G69C

Domain	Start	End	E-Value	Type
low complexity region	40	58	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000072750

SMART Domains

Protein: ENSMUSP00000072533
Gene: ENSMUSG00000000568

Domain	Start	End	E-Value	Type
low complexity region	7	66	N/A	INTRINSIC
RRM	79	151	3.85e-25	SMART
RRM	164	236	7.76e-21	SMART
low complexity region	243	249	N/A	INTRINSIC
low complexity region	251	270	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000112939

SMART Domains

Protein: ENSMUSP00000108561
Gene: ENSMUSG00000000568

Domain	Start	End	E-Value	Type
low complexity region	7	66	N/A	INTRINSIC
RRM	79	151	3.85e-25	SMART
RRM	164	236	7.76e-21	SMART
low complexity region	243	249	N/A	INTRINSIC
low complexity region	251	266	N/A	INTRINSIC
low complexity region	272	321	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000166606

Predicted Effect

probably benign
Transcript: ENSMUST00000168396

SMART Domains

Protein: ENSMUSP00000131859
Gene: ENSMUSG00000000568

Domain	Start	End	E-Value	Type
Pfam:CBFNT	1	79	2.2e-18	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000170912

Predicted Effect

probably benign
Transcript: ENSMUST00000171106

SMART Domains

Protein: ENSMUSP00000131262
Gene: ENSMUSG00000000568

Domain	Start	End	E-Value	Type
RRM	8	80	3.85e-25	SMART
RRM	93	165	7.76e-21	SMART
low complexity region	172	178	N/A	INTRINSIC
low complexity region	180	199	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000172361

SMART Domains

Protein: ENSMUSP00000132735
Gene: ENSMUSG00000000568

Domain	Start	End	E-Value	Type
Pfam:CBFNT	1	78	9.6e-16	PFAM
RRM	98	170	3.85e-25	SMART
RRM	183	255	7.76e-21	SMART
low complexity region	262	268	N/A	INTRINSIC
low complexity region	270	285	N/A	INTRINSIC
low complexity region	291	340	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000171786

SMART Domains

Protein: ENSMUSP00000125984
Gene: ENSMUSG00000000568

Domain	Start	End	E-Value	Type
RRM	1	72	8.44e-22	SMART
internal_repeat_1	86	107	2.75e-5	PROSPERO

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.9%
3x: 99.5%
10x: 97.6%
20x: 92.6%

Validation Efficiency

98% (56/57)

Allele List at MGI

Other mutations in this stock

Total: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb11	C	T	2: 69,091,844 (GRCm39)	A893T	probably damaging	Het
Adtrp	A	T	13: 41,981,682 (GRCm39)	N30K	probably benign	Het
Alms1	T	A	6: 85,597,885 (GRCm39)	S904T	probably damaging	Het
Cep170	T	A	1: 176,582,953 (GRCm39)		probably null	Het
Cntnap3	A	G	13: 64,946,994 (GRCm39)	V145A	probably damaging	Het
Dclre1a	T	C	19: 56,535,572 (GRCm39)	E4G	probably benign	Het
Depdc1a	G	C	3: 159,232,306 (GRCm39)	A686P	probably damaging	Het
Dnah7b	T	C	1: 46,376,753 (GRCm39)		probably null	Het
Enox1	A	G	14: 77,723,457 (GRCm39)		probably benign	Het
Fam107b	A	G	2: 3,779,601 (GRCm39)	E268G	probably damaging	Het
Fer1l6	A	G	15: 58,435,917 (GRCm39)	S437G	probably benign	Het
Flnb	C	A	14: 7,907,183 (GRCm38)	T1252K	probably damaging	Het
Fubp1	A	G	3: 151,923,951 (GRCm39)		probably benign	Het
Gm20402	G	A	3: 52,176,370 (GRCm39)	A50T	probably benign	Het
Gpr137b	T	C	13: 13,533,991 (GRCm39)	Y355C		Het
Gzmk	C	T	13: 113,310,456 (GRCm39)		probably null	Het
Ino80	A	T	2: 119,270,028 (GRCm39)		probably benign	Het
Ints8	T	C	4: 11,223,813 (GRCm39)	T677A	probably damaging	Het
Kat6a	A	G	8: 23,428,305 (GRCm39)	E1220G	probably damaging	Het
Lrfn5	A	G	12: 61,890,204 (GRCm39)	T498A	probably damaging	Het
Lrp2	T	A	2: 69,273,120 (GRCm39)	T4043S	probably benign	Het
Malrd1	A	G	2: 15,619,078 (GRCm39)	N314S	probably benign	Het
Mfsd1	A	G	3: 67,497,162 (GRCm39)		probably null	Het
Muc1	C	T	3: 89,138,300 (GRCm39)	P381S	probably benign	Het
Myh2	A	T	11: 67,076,002 (GRCm39)	K730*	probably null	Het
Nat3	T	A	8: 68,000,590 (GRCm39)	N156K	probably benign	Het
Nelfe	T	C	17: 35,073,645 (GRCm39)		probably benign	Het
Nlrp1a	A	T	11: 70,990,471 (GRCm39)	L927Q	probably damaging	Het
P4ha2	A	G	11: 54,011,014 (GRCm39)	Y343C	probably damaging	Het
Pclo	A	T	5: 14,571,185 (GRCm39)	Q190L	probably damaging	Het
Pde8a	A	G	7: 80,945,439 (GRCm39)	N183S	probably damaging	Het
Plekha2	C	T	8: 25,542,381 (GRCm39)	V278I	probably benign	Het
Plekha6	G	C	1: 133,200,045 (GRCm39)	R208P	possibly damaging	Het
Plxnb1	T	C	9: 108,940,775 (GRCm39)	L1550P	probably damaging	Het
Ppox	C	T	1: 171,105,034 (GRCm39)	V385I	probably damaging	Het
Prdm16	T	C	4: 154,407,716 (GRCm39)	D1170G	possibly damaging	Het
Prmt5	A	T	14: 54,747,368 (GRCm39)	S470T	probably damaging	Het
Robo2	T	A	16: 73,692,668 (GRCm39)		probably benign	Het
Siglecg	G	A	7: 43,061,628 (GRCm39)		probably benign	Het
Slc30a5	T	C	13: 100,949,810 (GRCm39)	N367S	probably damaging	Het
Tex29	C	T	8: 11,904,288 (GRCm39)		probably benign	Het
Tmem117	T	A	15: 94,536,020 (GRCm39)	V18E	probably damaging	Het
Tmtc2	C	T	10: 105,249,366 (GRCm39)	M122I	probably benign	Het
Tpr	T	A	1: 150,283,151 (GRCm39)	N287K	probably benign	Het
Unc93b1	A	T	19: 3,993,632 (GRCm39)	D358V	probably damaging	Het
Vrk2	A	T	11: 26,484,372 (GRCm39)		probably benign	Het
Wdr24	A	T	17: 26,046,960 (GRCm39)	Q671L	probably benign	Het
Zfp110	C	T	7: 12,582,405 (GRCm39)	T351I	probably benign	Het
Zfp963	T	C	8: 70,196,027 (GRCm39)	D142G	probably benign	Het

Other mutations in 4930524J08Rik

Allele	Source	Chr	Coord	Type	Predicted Effect
R1103:4930524J08Rik	UTSW	5	100,126,980 (GRCm39)	unclassified	probably benign
R5666:4930524J08Rik	UTSW	5	100,127,068 (GRCm39)	unclassified	probably benign
R5670:4930524J08Rik	UTSW	5	100,127,068 (GRCm39)	unclassified	probably benign
R7323:4930524J08Rik	UTSW	5	100,126,945 (GRCm39)	missense	unknown
R7422:4930524J08Rik	UTSW	5	100,127,068 (GRCm39)	unclassified	probably benign
X0024:4930524J08Rik	UTSW	5	100,127,154 (GRCm39)	unclassified	probably benign

Predicted Primers

PCR Primer
(F):5'- CCTTTAAAGAGGACCGGAAGTG -3'
(R):5'- CTCTTGTAATAACGGAGGCAAAGC -3'

Sequencing Primer
(F):5'- GAAGTGGCGTGCGCAAG -3'
(R):5'- AAAGCCGCCTTTGGACAG -3'

Posted On

2018-02-19