Mutagenetix > Incidental Mutation

Incidental Mutation 'R4238:4930563M21Rik'

321220

Institutional Source

Beutler Lab

Gene Symbol

4930563M21Rik

Ensembl Gene

ENSMUSG00000050702

Gene Name

RIKEN cDNA 4930563M21 gene

Synonyms

Rfpl3s

MMRRC Submission

041055-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.062) question?

Stock #

R4238 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

55869873-55917834 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 55888126 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 397 (D397G)

Ref Sequence

ENSEMBL: ENSMUSP00000150879 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000060468] [ENSMUST00000217105]

AlphaFold

E9QAA9

Predicted Effect

probably benign
Transcript: ENSMUST00000060468
AA Change: D16G

PolyPhen 2 Score 0.290 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000051794
Gene: ENSMUSG00000050702
AA Change: D16G

Domain	Start	End	E-Value	Type
low complexity region	107	119	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000217105
AA Change: D397G

PolyPhen 2 Score 0.290 (Sensitivity: 0.91; Specificity: 0.88)

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.3%
3x: 98.8%
10x: 97.5%
20x: 96.0%

Validation Efficiency

100% (42/42)

Allele List at MGI

Other mutations in this stock

Total: 40 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4833420G17Rik	C	T	13: 119,603,478 (GRCm39)	P93S	probably benign	Het
Aar2	A	G	2: 156,393,064 (GRCm39)	E151G	possibly damaging	Het
Cacna2d4	A	G	6: 119,217,669 (GRCm39)	D125G	probably null	Het
Cdc20	C	T	4: 118,290,257 (GRCm39)	R468Q	probably damaging	Het
Cers3	T	C	7: 66,423,424 (GRCm39)	F87S	probably damaging	Het
Cfap74	C	A	4: 155,547,529 (GRCm39)	H1238Q	probably benign	Het
Cndp1	G	T	18: 84,636,342 (GRCm39)	H391N	probably benign	Het
Cpz	T	C	5: 35,659,818 (GRCm39)	D609G	probably benign	Het
Dpp8	A	G	9: 64,962,205 (GRCm39)	D415G	probably benign	Het
Erbb2	A	G	11: 98,318,869 (GRCm39)	K549R	probably benign	Het
Fam186a	T	C	15: 99,841,523 (GRCm39)	I1574V	probably benign	Het
Gm6871	G	T	7: 41,195,204 (GRCm39)	T511K	probably damaging	Het
Gpr158	G	T	2: 21,373,362 (GRCm39)	C99F	probably damaging	Het
Gtf2h1	C	T	7: 46,454,489 (GRCm39)	A157V	probably benign	Het
Hexb	T	C	13: 97,313,259 (GRCm39)		probably benign	Het
Ighv3-4	A	T	12: 114,217,533 (GRCm39)	D19E	probably benign	Het
Igkv12-44	A	G	6: 69,791,868 (GRCm39)	S32P	probably benign	Het
Klk6	A	G	7: 43,478,597 (GRCm39)	H168R	probably benign	Het
Lin54	G	A	5: 100,623,603 (GRCm39)	S78L	possibly damaging	Het
Lzts1	G	T	8: 69,588,579 (GRCm39)	A459E	possibly damaging	Het
Mlf1	G	A	3: 67,291,910 (GRCm39)	S25N	probably benign	Het
Mrgprx2	C	A	7: 48,132,738 (GRCm39)	V27L	probably benign	Het
Myof	T	A	19: 37,911,456 (GRCm39)	R1505*	probably null	Het
Or4k15	T	C	14: 50,364,889 (GRCm39)	V285A	probably benign	Het
Otud7a	A	G	7: 63,300,702 (GRCm39)	D47G	probably damaging	Het
Phactr1	T	A	13: 43,248,363 (GRCm39)	N437K	possibly damaging	Het
Polq	G	T	16: 36,833,543 (GRCm39)	V79F	probably damaging	Het
Prc1	G	A	7: 79,960,964 (GRCm39)		probably benign	Het
Psg20	A	T	7: 18,418,434 (GRCm39)	V111D	probably damaging	Het
Scamp3	G	A	3: 89,089,234 (GRCm39)		probably null	Het
Simc1	C	G	13: 54,674,073 (GRCm39)	S807*	probably null	Het
Slc14a2	G	A	18: 78,250,283 (GRCm39)	R62C	probably damaging	Het
Snrpa	A	T	7: 26,892,293 (GRCm39)		probably null	Het
Sval2	T	A	6: 41,837,283 (GRCm39)	L4H	probably damaging	Het
Tax1bp1	C	T	6: 52,743,036 (GRCm39)	Q808*	probably null	Het
Tnfrsf11a	T	C	1: 105,754,962 (GRCm39)	Y345H	probably damaging	Het
Trpa1	A	G	1: 14,954,340 (GRCm39)	L853P	probably damaging	Het
Trpm3	A	G	19: 22,956,002 (GRCm39)	R1155G	probably damaging	Het
Ube4a	T	C	9: 44,851,297 (GRCm39)	E739G	probably damaging	Het
Zfp433	A	C	10: 81,556,046 (GRCm39)	T182P	probably damaging	Het

Other mutations in 4930563M21Rik

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02721:4930563M21Rik	APN	9	55,888,124 (GRCm39)	missense	probably benign	0.14
R2471:4930563M21Rik	UTSW	9	55,888,147 (GRCm39)	missense	probably benign	0.03
R3831:4930563M21Rik	UTSW	9	55,880,992 (GRCm39)	missense	unknown
R4237:4930563M21Rik	UTSW	9	55,888,126 (GRCm39)	missense	probably benign	0.29
R4239:4930563M21Rik	UTSW	9	55,888,126 (GRCm39)	missense	probably benign	0.29
R5412:4930563M21Rik	UTSW	9	55,886,036 (GRCm39)	missense	probably damaging	0.97
R6191:4930563M21Rik	UTSW	9	55,909,807 (GRCm39)	missense	possibly damaging	0.81
R6368:4930563M21Rik	UTSW	9	55,897,416 (GRCm39)	missense	possibly damaging	0.46
R6415:4930563M21Rik	UTSW	9	55,881,296 (GRCm39)	missense	probably benign	0.00
R6700:4930563M21Rik	UTSW	9	55,881,140 (GRCm39)	missense	unknown
R6727:4930563M21Rik	UTSW	9	55,896,760 (GRCm39)	missense	possibly damaging	0.46
R7346:4930563M21Rik	UTSW	9	55,914,587 (GRCm39)	missense	unknown
R7470:4930563M21Rik	UTSW	9	55,898,622 (GRCm39)	missense	possibly damaging	0.68
R7499:4930563M21Rik	UTSW	9	55,907,186 (GRCm39)	missense	possibly damaging	0.49
R7609:4930563M21Rik	UTSW	9	55,896,744 (GRCm39)	missense	probably benign	0.00
R7616:4930563M21Rik	UTSW	9	55,896,738 (GRCm39)	missense	probably benign	0.03
R7662:4930563M21Rik	UTSW	9	55,885,999 (GRCm39)	missense	probably benign	0.00
R8018:4930563M21Rik	UTSW	9	55,880,991 (GRCm39)	missense	unknown
R8057:4930563M21Rik	UTSW	9	55,916,564 (GRCm39)	missense	unknown
R8077:4930563M21Rik	UTSW	9	55,895,250 (GRCm39)	missense	probably damaging	0.97
R8782:4930563M21Rik	UTSW	9	55,910,242 (GRCm39)	critical splice donor site	probably null
R9178:4930563M21Rik	UTSW	9	55,880,992 (GRCm39)	missense	unknown
R9214:4930563M21Rik	UTSW	9	55,890,653 (GRCm39)	missense	probably benign	0.03
R9293:4930563M21Rik	UTSW	9	55,916,568 (GRCm39)	missense	unknown
R9441:4930563M21Rik	UTSW	9	55,917,776 (GRCm39)	missense	unknown
R9602:4930563M21Rik	UTSW	9	55,910,261 (GRCm39)	missense	possibly damaging	0.66
R9667:4930563M21Rik	UTSW	9	55,890,645 (GRCm39)	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- CTTGTCGTCCAGTGAGAACC -3'
(R):5'- GGTGCCTGTCATCTTCAAGAATAC -3'

Sequencing Primer
(F):5'- GGATTGCAGTTCTACAGATGTAC -3'
(R):5'- CCTGTCATCTTCAAGAATACTGAATC -3'

Posted On

2015-06-12