Mutagenetix > Incidental Mutation

Incidental Mutation 'R8018:4930563M21Rik'

617223

Institutional Source

Beutler Lab

Gene Symbol

4930563M21Rik

Ensembl Gene

ENSMUSG00000050702

Gene Name

RIKEN cDNA 4930563M21 gene

Synonyms

Rfpl3s

MMRRC Submission

067458-MU

Accession Numbers

Essential gene?

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

Stock #

R8018 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

55869873-55917834 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 55880991 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Isoleucine at position 146 (T146I)

Ref Sequence

ENSEMBL: ENSMUSP00000051794 (fasta)

Gene Model

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

AlphaFold

E9QAA9

Predicted Effect

unknown
Transcript: ENSMUST00000060468
AA Change: T146I

SMART Domains

Protein: ENSMUSP00000051794
Gene: ENSMUSG00000050702
AA Change: T146I

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

Predicted Effect

unknown
Transcript: ENSMUST00000217105
AA Change: T527I

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.2%

Validation Efficiency

98% (45/46)

Allele List at MGI

Other mutations in this stock

Total: 48 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca16	A	G	7: 120,132,866 (GRCm39)	E1265G	probably benign	Het
Adar	T	C	3: 89,654,882 (GRCm39)	S924P	probably damaging	Het
Adgrv1	A	T	13: 81,588,344 (GRCm39)	V4414E	possibly damaging	Het
AI429214	A	T	8: 37,460,820 (GRCm39)		probably benign	Het
Ankmy1	A	T	1: 92,814,003 (GRCm39)	L392Q	probably benign	Het
Anxa3	A	T	5: 96,968,288 (GRCm39)	I114F	probably damaging	Het
Ccdc158	T	C	5: 92,771,260 (GRCm39)	D985G	possibly damaging	Het
Cndp2	C	T	18: 84,686,727 (GRCm39)	V432I	probably benign	Het
Ctbp2	T	C	7: 132,616,095 (GRCm39)	K280R	probably benign	Het
Dao	AGG	AG	5: 114,153,270 (GRCm39)		probably benign	Het
Dnaaf4	T	A	9: 72,879,598 (GRCm39)		probably benign	Het
Dynap	T	C	18: 70,375,093 (GRCm39)	T41A	possibly damaging	Het
Elfn2	A	G	15: 78,557,968 (GRCm39)	L193P	probably damaging	Het
Fcrl2	A	T	3: 87,166,933 (GRCm39)	L20*	probably null	Het
Flcn	T	C	11: 59,684,948 (GRCm39)	D501G	probably damaging	Het
Gmip	A	G	8: 70,268,143 (GRCm39)	E399G	probably benign	Het
Grm7	A	G	6: 111,184,737 (GRCm39)	E356G	probably benign	Het
Hs3st2	A	G	7: 121,099,639 (GRCm39)		probably null	Het
Kcnh2	G	A	5: 24,525,014 (GRCm39)	S1158L	probably damaging	Het
Lancl2	A	G	6: 57,690,078 (GRCm39)	T104A	probably damaging	Het
Ldlrad4	G	T	18: 68,368,740 (GRCm39)	A66S	possibly damaging	Het
Mthfd2l	T	A	5: 91,107,672 (GRCm39)	I178N	probably damaging	Het
Nbeal2	G	T	9: 110,458,225 (GRCm39)		probably benign	Het
Niban1	A	T	1: 151,593,006 (GRCm39)	K564*	probably null	Het
Nipal3	C	T	4: 135,174,659 (GRCm39)	R364H	possibly damaging	Het
Or2b4	A	G	17: 38,116,038 (GRCm39)	M1V	probably null	Het
Oxa1l	A	G	14: 54,600,757 (GRCm39)	I77V	not run	Het
Phf10	T	A	17: 15,174,378 (GRCm39)	Q233H	possibly damaging	Het
Pias2	T	A	18: 77,216,654 (GRCm39)	N288K	probably benign	Het
Pramel43	T	C	5: 94,761,839 (GRCm39)	N244S	probably benign	Het
Prm3	CTCTTCTTCTTCTTC	CTCTTCTTCTTC	16: 10,608,565 (GRCm39)		probably benign	Het
Ptprd	T	C	4: 76,003,757 (GRCm39)	T1010A	probably damaging	Het
Ralgapa2	T	C	2: 146,182,311 (GRCm39)	D1676G	probably damaging	Het
Rapgefl1	T	G	11: 98,731,166 (GRCm39)		probably null	Het
Rrp7a	C	T	15: 83,001,125 (GRCm39)	E269K	possibly damaging	Het
Ryr3	A	C	2: 112,508,777 (GRCm39)	M3399R	probably damaging	Het
Secisbp2l	C	A	2: 125,587,829 (GRCm39)	R762L	probably damaging	Het
Smad7	T	G	18: 75,502,355 (GRCm39)	L110R	possibly damaging	Het
St6gal1	G	A	16: 23,176,585 (GRCm39)	A393T	probably benign	Het
Tcea3	T	G	4: 135,985,229 (GRCm39)		probably benign	Het
Tdrd9	T	C	12: 111,999,180 (GRCm39)	V765A	probably benign	Het
Tdrd9	C	T	12: 112,010,822 (GRCm39)	R1130W	probably damaging	Het
Tia1	C	T	6: 86,402,034 (GRCm39)	P189S	probably benign	Het
Tubg1	G	T	11: 101,014,854 (GRCm39)	A199S	probably benign	Het
Ubxn8	A	G	8: 34,113,243 (GRCm39)	C204R	probably damaging	Het
Vmn1r76	A	G	7: 11,664,810 (GRCm39)	S135P	probably damaging	Het
Vps18	T	A	2: 119,124,492 (GRCm39)	L473H	probably damaging	Het
Zfp444	A	G	7: 6,191,142 (GRCm39)	T108A	probably benign	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
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
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'- CCCTCCAAGCAGAAGGAATG -3'
(R):5'- GGTATTCCTGGTCACATCCAAC -3'

Sequencing Primer
(F):5'- TCAGGTCCTGCTGAACAATG -3'
(R):5'- CTTCCAGATATTGATCATGTGGATG -3'

Posted On

2020-01-23