Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03377:Rfpl4'

420531

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Rfpl4

Ensembl Gene

ENSMUSG00000035191

Gene Name

ret finger protein-like 4

Synonyms

D7Ertd486e

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.096) question?

Stock #

IGL03377

Quality Score

Status

Chromosome

Chromosomal Location

5112786-5119910 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 5113464 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Serine at position 239 (Y239S)

Ref Sequence

ENSEMBL: ENSMUSP00000136497 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000045215] [ENSMUST00000179971] [ENSMUST00000208468]

AlphaFold

Q8VH31

Predicted Effect

probably damaging
Transcript: ENSMUST00000045215
AA Change: Y239S

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000039519
Gene: ENSMUSG00000035191
AA Change: Y239S

Domain	Start	End	E-Value	Type
RING	14	52	4.52e-3	SMART
PRY	95	147	2.51e-10	SMART
SPRY	148	275	2e-19	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000179971
AA Change: Y239S

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000136497
Gene: ENSMUSG00000035191
AA Change: Y239S

Domain	Start	End	E-Value	Type
RING	14	52	4.52e-3	SMART
PRY	95	147	2.51e-10	SMART
SPRY	148	275	2e-19	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000208468
AA Change: Y233S

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcg3	T	A	5: 105,096,256 (GRCm39)	I489L	probably benign	Het
Acox3	T	C	5: 35,751,676 (GRCm39)	L237P	probably damaging	Het
Ahi1	T	G	10: 20,893,903 (GRCm39)	I878S	possibly damaging	Het
Alox15	T	A	11: 70,240,488 (GRCm39)	Y231F	probably damaging	Het
Asxl1	A	T	2: 153,238,700 (GRCm39)	K342M	probably damaging	Het
Atl2	T	C	17: 80,172,519 (GRCm39)	I150M	probably damaging	Het
Bag6	T	C	17: 35,363,958 (GRCm39)	Y822H	probably damaging	Het
Ccdc171	T	C	4: 83,581,754 (GRCm39)	Y628H	probably damaging	Het
Ceacam5	T	A	7: 17,449,056 (GRCm39)	Y141N	probably benign	Het
Ces1a	A	G	8: 93,766,116 (GRCm39)	V166A	probably damaging	Het
Chrdl2	G	A	7: 99,671,259 (GRCm39)	A126T	probably benign	Het
Cyp2d26	T	C	15: 82,674,755 (GRCm39)	E409G	possibly damaging	Het
Dicer1	T	C	12: 104,678,456 (GRCm39)	I621V	probably damaging	Het
Enpp1	T	A	10: 24,536,181 (GRCm39)		probably null	Het
Epha2	T	A	4: 141,049,723 (GRCm39)	S776R	probably benign	Het
Fam107b	A	T	2: 3,779,481 (GRCm39)	E52V	probably damaging	Het
Fam169a	A	G	13: 97,228,381 (GRCm39)	N18S	probably benign	Het
Fbxw21	A	T	9: 108,968,597 (GRCm39)	F460I	probably benign	Het
Fgfr2	A	T	7: 129,800,247 (GRCm39)	I329N	probably damaging	Het
Fndc7	T	C	3: 108,783,848 (GRCm39)	S254G	probably benign	Het
Glis1	T	G	4: 107,489,478 (GRCm39)	H688Q	probably damaging	Het
Grip1	A	G	10: 119,890,937 (GRCm39)	E898G	probably damaging	Het
Gtf2a1l	T	A	17: 89,019,021 (GRCm39)	D368E	probably benign	Het
Gucy1a1	T	A	3: 82,013,322 (GRCm39)	H440L	probably damaging	Het
H2-M10.5	A	T	17: 37,084,377 (GRCm39)	D113V	probably benign	Het
Hook2	G	T	8: 85,727,964 (GRCm39)	E554*	probably null	Het
Itpr2	T	A	6: 146,231,256 (GRCm39)	T1135S	probably benign	Het
Itpr2	A	C	6: 146,231,213 (GRCm39)	V1182G	probably damaging	Het
Kdm4c	T	C	4: 74,189,492 (GRCm39)	I69T	possibly damaging	Het
Klhl31	A	T	9: 77,558,345 (GRCm39)	K354*	probably null	Het
Krt222	T	A	11: 99,127,339 (GRCm39)	K159*	probably null	Het
Loxhd1	A	G	18: 77,529,369 (GRCm39)	E2004G	possibly damaging	Het
Man2a2	A	T	7: 80,008,800 (GRCm39)		probably null	Het
Med24	A	G	11: 98,595,962 (GRCm39)	F963L	possibly damaging	Het
Mphosph8	A	G	14: 56,930,943 (GRCm39)	E744G	probably damaging	Het
Mypn	A	G	10: 63,028,644 (GRCm39)	S140P	probably benign	Het
Npc1	A	G	18: 12,344,878 (GRCm39)	F331L	probably benign	Het
Obscn	C	A	11: 58,890,699 (GRCm39)	G1798W	probably damaging	Het
Or5d18	A	T	2: 87,864,589 (GRCm39)	V298D	probably damaging	Het
Patj	C	T	4: 98,353,341 (GRCm39)	P110L	probably damaging	Het
Pkhd1l1	T	G	15: 44,347,747 (GRCm39)		probably null	Het
Prdm5	A	G	6: 65,836,457 (GRCm39)	H256R	possibly damaging	Het
Ralgps1	A	G	2: 33,062,473 (GRCm39)	Y267H	probably damaging	Het
Rnpepl1	A	T	1: 92,846,953 (GRCm39)	M592L	probably benign	Het
Serpinc1	A	T	1: 160,821,012 (GRCm39)	H32L	probably damaging	Het
Skint5	T	A	4: 113,620,735 (GRCm39)	T660S	unknown	Het
Slc26a2	T	C	18: 61,331,658 (GRCm39)	N591S	probably damaging	Het
Slc9b2	C	T	3: 135,042,119 (GRCm39)	A466V	probably damaging	Het
Slco1a5	T	A	6: 142,180,492 (GRCm39)	T637S	probably benign	Het
Snx25	A	G	8: 46,533,338 (GRCm39)		probably benign	Het
Szt2	T	C	4: 118,259,594 (GRCm39)		probably benign	Het
Vmn1r183	A	G	7: 23,754,817 (GRCm39)	M207V	possibly damaging	Het
Wdcp	T	G	12: 4,900,691 (GRCm39)	Y182*	probably null	Het
Zc3h13	A	G	14: 75,531,416 (GRCm39)	T105A	possibly damaging	Het
Zfp933	T	C	4: 147,913,168 (GRCm39)	K30R	possibly damaging	Het

Other mutations in Rfpl4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R0285:Rfpl4	UTSW	7	5,113,377 (GRCm39)	missense	probably benign	0.01
R0727:Rfpl4	UTSW	7	5,118,292 (GRCm39)	missense	probably benign	0.20
R1024:Rfpl4	UTSW	7	5,113,517 (GRCm39)	missense	probably damaging	1.00
R1529:Rfpl4	UTSW	7	5,113,711 (GRCm39)	missense	probably damaging	1.00
R1625:Rfpl4	UTSW	7	5,118,409 (GRCm39)	missense	possibly damaging	0.62
R1714:Rfpl4	UTSW	7	5,113,357 (GRCm39)	missense	probably benign	0.34
R1960:Rfpl4	UTSW	7	5,118,533 (GRCm39)	nonsense	probably null
R2167:Rfpl4	UTSW	7	5,113,852 (GRCm39)	missense	probably damaging	1.00
R2185:Rfpl4	UTSW	7	5,118,499 (GRCm39)	missense	probably damaging	1.00
R4385:Rfpl4	UTSW	7	5,113,669 (GRCm39)	missense	possibly damaging	0.93
R5988:Rfpl4	UTSW	7	5,118,501 (GRCm39)	missense	probably damaging	1.00
R7082:Rfpl4	UTSW	7	5,118,558 (GRCm39)	missense	probably benign	0.01
R7212:Rfpl4	UTSW	7	5,113,659 (GRCm39)	missense	probably damaging	1.00
R7772:Rfpl4	UTSW	7	5,118,543 (GRCm39)	missense	probably benign	0.05
R8271:Rfpl4	UTSW	7	5,113,539 (GRCm39)	missense	probably benign	0.00
R9245:Rfpl4	UTSW	7	5,113,840 (GRCm39)	missense	probably damaging	1.00

Posted On

2016-08-02