Mutagenetix > Incidental Mutation

Incidental Mutation 'R4237:4930563M21Rik'

321174

Institutional Source

Beutler Lab

Gene Symbol

4930563M21Rik

Ensembl Gene

ENSMUSG00000050702

Gene Name

RIKEN cDNA 4930563M21 gene

Synonyms

Rfpl3s

MMRRC Submission

041054-MU

Accession Numbers

Essential gene?

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

Stock #

R4237 (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: 99.2%
3x: 98.7%
10x: 97.3%
20x: 95.4%

Validation Efficiency

100% (44/44)

Allele List at MGI

Other mutations in this stock

Total: 38 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
6820408C15Rik	C	T	2: 152,270,873 (GRCm39)	T32I	possibly damaging	Het
Abca13	A	G	11: 9,384,188 (GRCm39)	K3880R	probably benign	Het
Ahnak	C	T	19: 8,979,147 (GRCm39)	L144F	probably benign	Het
Antxr2	A	T	5: 98,086,266 (GRCm39)	I447N	probably damaging	Het
Cdc20	C	T	4: 118,290,257 (GRCm39)	R468Q	probably damaging	Het
Clip2	A	G	5: 134,564,051 (GRCm39)		probably benign	Het
Cntnap2	A	T	6: 46,507,324 (GRCm39)		probably benign	Het
Ddi1	A	G	9: 6,265,799 (GRCm39)	M190T	probably benign	Het
Dicer1	A	G	12: 104,695,487 (GRCm39)	V148A	possibly damaging	Het
Dpp8	A	G	9: 64,962,205 (GRCm39)	D415G	probably benign	Het
Galnt11	G	A	5: 25,470,258 (GRCm39)	R569Q	probably benign	Het
Gpr6	T	C	10: 40,946,604 (GRCm39)	N326S	probably damaging	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
L3mbtl3	G	A	10: 26,216,846 (GRCm39)	A181V	unknown	Het
Lrrc37a	G	A	11: 103,393,115 (GRCm39)	T770I	probably damaging	Het
Or12e8	T	C	2: 87,188,597 (GRCm39)	S270P	probably damaging	Het
Or2d2	A	G	7: 106,728,244 (GRCm39)	S119P	probably damaging	Het
Or6a2	T	C	7: 106,600,536 (GRCm39)	N177S	probably damaging	Het
Or7g32	C	T	9: 19,388,893 (GRCm39)	V215I	probably benign	Het
Phactr1	T	A	13: 43,248,363 (GRCm39)	N437K	possibly damaging	Het
Ppp1r13b	T	C	12: 111,805,170 (GRCm39)	T181A	probably benign	Het
Prc1	G	A	7: 79,960,964 (GRCm39)		probably benign	Het
Proca1	A	G	11: 78,095,752 (GRCm39)	N128S	probably benign	Het
Psmd8	G	A	7: 28,876,546 (GRCm39)	P155L	probably damaging	Het
Rad54l	A	G	4: 115,956,646 (GRCm39)	V500A	probably damaging	Het
Scamp3	G	A	3: 89,089,234 (GRCm39)		probably null	Het
Serpinb10	C	T	1: 107,466,179 (GRCm39)	T55M	probably benign	Het
Sipa1l2	T	C	8: 126,218,395 (GRCm39)	E314G	probably benign	Het
Slc14a2	G	A	18: 78,250,283 (GRCm39)	R62C	probably damaging	Het
Tdrd9	C	T	12: 112,034,059 (GRCm39)	R1334*	probably null	Het
Trank1	A	G	9: 111,196,103 (GRCm39)	I1376V	probably benign	Het
Trim28	T	A	7: 12,761,838 (GRCm39)	H268Q	possibly damaging	Het
Vmn2r76	T	A	7: 85,879,740 (GRCm39)	I187L	probably benign	Het
Wdr95	A	T	5: 149,486,802 (GRCm39)	R160*	probably null	Het
Wnt5a	T	C	14: 28,244,823 (GRCm39)	C357R	probably damaging	Het
Zfp157	A	G	5: 138,445,803 (GRCm39)	I53V	probably damaging	Het
Zfp184	G	A	13: 22,142,948 (GRCm39)	R218H	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
R4238:4930563M21Rik	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'- TTGTCGTCCAGTGAGAACCAC -3'
(R):5'- TGGTGCCTGTCATCTTCAAG -3'

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

Posted On

2015-06-12