Mutagenetix > Incidental Mutation

Incidental Mutation 'R0946:Rfpl4b'

82111

Institutional Source

Beutler Lab

Gene Symbol

Rfpl4b

Ensembl Gene

ENSMUSG00000094311

Gene Name

ret finger protein-like 4B

Synonyms

Gm62, LOC215919, Gm3037

MMRRC Submission

039085-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.057) question?

Stock #

R0946 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

38696537-38697775 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 38696833 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Asparagine at position 256 (I256N)

Ref Sequence

ENSEMBL: ENSMUSP00000137446 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000179279]

AlphaFold

J3QPR6

Predicted Effect

probably benign
Transcript: ENSMUST00000179279
AA Change: I256N

PolyPhen 2 Score 0.178 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000137446
Gene: ENSMUSG00000094311
AA Change: I256N

Domain	Start	End	E-Value	Type
RING	31	72	1.86e-4	SMART
Blast:PRY	115	163	2e-8	BLAST
PDB:2FBE\|D	132	242	3e-7	PDB
Blast:SPRY	168	266	4e-12	BLAST

Coding Region Coverage

1x: 99.4%
3x: 98.9%
10x: 97.5%
20x: 95.2%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 47 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9230112D13Rik	A	G	14: 34,234,099 (GRCm39)	M64T	unknown	Het
Adamts15	C	T	9: 30,813,493 (GRCm39)	G891R	probably damaging	Het
Adck5	G	A	15: 76,477,486 (GRCm39)	V107I	possibly damaging	Het
Aoc3	G	A	11: 101,223,131 (GRCm39)	V456M	possibly damaging	Het
Apbb1	A	T	7: 105,223,062 (GRCm39)	L183Q	probably benign	Het
Camsap3	A	G	8: 3,654,442 (GRCm39)	H693R	probably benign	Het
Ccdc88a	A	G	11: 29,406,509 (GRCm39)	T414A	probably benign	Het
Cdh17	T	C	4: 11,795,581 (GRCm39)	V387A	probably benign	Het
Coasy	G	T	11: 100,976,696 (GRCm39)	V489F	probably damaging	Het
Ercc6	A	T	14: 32,274,578 (GRCm39)	M574L	probably benign	Het
Esrrb	T	C	12: 86,552,598 (GRCm39)	L180P	probably damaging	Het
Fam83b	A	T	9: 76,398,679 (GRCm39)	V808D	probably damaging	Het
Fat3	C	T	9: 15,909,100 (GRCm39)	V2301I	possibly damaging	Het
Ftdc1	C	A	16: 58,435,075 (GRCm39)	R83S	probably damaging	Het
Hyal4	T	A	6: 24,755,912 (GRCm39)	Y43*	probably null	Het
Hydin	C	A	8: 111,257,685 (GRCm39)	L2372M	probably benign	Het
Lrrc4c	T	C	2: 97,459,809 (GRCm39)	V145A	probably benign	Het
Lypd10	A	G	7: 24,413,167 (GRCm39)	K162R	probably benign	Het
Muc21	A	C	17: 35,929,105 (GRCm39)	S1581A	probably benign	Het
Myh4	A	G	11: 67,142,577 (GRCm39)	I913V	possibly damaging	Het
Nat10	C	T	2: 103,561,719 (GRCm39)	G654D	probably damaging	Het
Nbn	A	T	4: 15,970,719 (GRCm39)		probably null	Het
Nup50l	A	T	6: 96,142,677 (GRCm39)	N122K	possibly damaging	Het
Oas3	T	C	5: 120,907,128 (GRCm39)	Y503C	unknown	Het
Or11g7	C	A	14: 50,691,130 (GRCm39)	T207K	probably benign	Het
Pappa	G	T	4: 65,233,029 (GRCm39)		probably null	Het
Pfas	A	G	11: 68,884,121 (GRCm39)		probably null	Het
Pfas	G	T	11: 68,881,573 (GRCm39)		probably null	Het
Pign	A	T	1: 105,519,422 (GRCm39)	M500K	probably benign	Het
Pkhd1	T	C	1: 20,269,605 (GRCm39)	K3313R	probably benign	Het
Ptk2b	A	G	14: 66,396,047 (GRCm39)	V807A	probably benign	Het
Ptpdc1	C	T	13: 48,740,286 (GRCm39)	E382K	probably damaging	Het
Skap1	C	G	11: 96,432,295 (GRCm39)	S88*	probably null	Het
Slc4a2	T	C	5: 24,640,884 (GRCm39)	S742P	probably damaging	Het
Supv3l1	T	C	10: 62,265,599 (GRCm39)	D647G	probably damaging	Het
Tmem184c	A	C	8: 78,331,386 (GRCm39)	V121G	probably damaging	Het
Tonsl	T	C	15: 76,507,421 (GRCm39)	I118V	probably benign	Het
Top1	T	A	2: 160,554,588 (GRCm39)	Y446*	probably null	Het
Trim37	A	G	11: 87,037,781 (GRCm39)	R172G	probably damaging	Het
Vgll4	C	A	6: 114,867,768 (GRCm39)		probably null	Het
Vgll4	T	A	6: 114,867,769 (GRCm39)		probably null	Het
Vmn1r5	T	G	6: 56,963,150 (GRCm39)	I275S	possibly damaging	Het
Vwde	A	T	6: 13,187,874 (GRCm39)	H584Q	probably damaging	Het
Zbtb14	C	A	17: 69,695,497 (GRCm39)	F398L	probably damaging	Het
Zfp282	T	A	6: 47,856,943 (GRCm39)	W59R	probably damaging	Het
Zfp329	T	A	7: 12,545,395 (GRCm39)	N43I	probably benign	Het
Zswim2	T	A	2: 83,754,103 (GRCm39)	T186S	probably benign	Het

Other mutations in Rfpl4b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
BB009:Rfpl4b	UTSW	10	38,697,346 (GRCm39)	missense	possibly damaging	0.85
BB019:Rfpl4b	UTSW	10	38,697,346 (GRCm39)	missense	possibly damaging	0.85
R1628:Rfpl4b	UTSW	10	38,697,530 (GRCm39)	missense	probably benign
R1746:Rfpl4b	UTSW	10	38,697,049 (GRCm39)	missense	possibly damaging	0.96
R2419:Rfpl4b	UTSW	10	38,697,368 (GRCm39)	missense	probably benign	0.03
R5466:Rfpl4b	UTSW	10	38,697,394 (GRCm39)	missense	probably damaging	0.98
R5613:Rfpl4b	UTSW	10	38,697,373 (GRCm39)	missense	probably benign	0.00
R5699:Rfpl4b	UTSW	10	38,697,281 (GRCm39)	missense	possibly damaging	0.86
R6401:Rfpl4b	UTSW	10	38,696,941 (GRCm39)	missense	possibly damaging	0.53
R6799:Rfpl4b	UTSW	10	38,697,341 (GRCm39)	missense	possibly damaging	0.61
R7932:Rfpl4b	UTSW	10	38,697,346 (GRCm39)	missense	possibly damaging	0.85
R9004:Rfpl4b	UTSW	10	38,697,771 (GRCm39)	start gained	probably benign
R9557:Rfpl4b	UTSW	10	38,696,870 (GRCm39)	missense	probably benign	0.01

Predicted Primers

PCR Primer
(F):5'- GGTCCTCCAATCTTGCTCTGAAAGG -3'
(R):5'- CAGTCTGCCACTGGGAAGTTGATG -3'

Sequencing Primer
(F):5'- CTTGCTCTGAAAGGAAGATTAAAAAC -3'
(R):5'- CAGGAGGAACATCTATTTACTCCG -3'

Posted On

2013-11-08