Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02586:Rnf149'

299548

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Rnf149

Ensembl Gene

ENSMUSG00000048234

Gene Name

ring finger protein 149

Synonyms

1600023E10Rik, Greul4

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.112) question?

Stock #

IGL02586

Quality Score

Status

Chromosome

Chromosomal Location

39590377-39616486 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 39604296 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Proline at position 189 (Q189P)

Ref Sequence

ENSEMBL: ENSMUSP00000050388 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000062525] [ENSMUST00000195136] [ENSMUST00000195705]

AlphaFold

Q3U2C5

Predicted Effect

probably benign
Transcript: ENSMUST00000062525
AA Change: Q189P

PolyPhen 2 Score 0.190 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000050388
Gene: ENSMUSG00000048234
AA Change: Q189P

Domain	Start	End	E-Value	Type
low complexity region	2	24	N/A	INTRINSIC
Pfam:PA	72	169	3.9e-13	PFAM
transmembrane domain	196	218	N/A	INTRINSIC
RING	265	305	2.09e-7	SMART
low complexity region	347	362	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000195136
AA Change: Q32P

PolyPhen 2 Score 0.073 (Sensitivity: 0.93; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000141667
Gene: ENSMUSG00000048234
AA Change: Q32P

Domain	Start	End	E-Value	Type
transmembrane domain	39	61	N/A	INTRINSIC
SCOP:d1ldjb_	74	127	3e-3	SMART
Blast:RING	108	127	9e-7	BLAST

Predicted Effect

probably benign
Transcript: ENSMUST00000195705

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 38 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca13	A	G	11: 9,243,983 (GRCm39)	I1949V	possibly damaging	Het
Anapc2	T	A	2: 25,175,108 (GRCm39)	M742K	probably benign	Het
Arhgef12	T	A	9: 42,917,200 (GRCm39)	K380*	probably null	Het
Armc1	G	T	3: 19,188,192 (GRCm39)		probably benign	Het
Bltp1	G	A	3: 37,098,757 (GRCm39)	W4626*	probably null	Het
Diaph3	A	T	14: 87,223,512 (GRCm39)	L323*	probably null	Het
Fbxo11	C	T	17: 88,318,711 (GRCm39)		probably benign	Het
Flywch1	C	T	17: 23,974,676 (GRCm39)	A655T	probably benign	Het
Frmpd1	A	G	4: 45,285,160 (GRCm39)	D1327G	probably damaging	Het
Ggact	G	A	14: 123,128,942 (GRCm39)	T91I	possibly damaging	Het
Gm10250	T	A	15: 5,150,412 (GRCm39)		probably benign	Het
Gsdmc4	T	C	15: 63,765,641 (GRCm39)	S303G	probably damaging	Het
Helt	T	C	8: 46,746,276 (GRCm39)	E15G	probably damaging	Het
Kcnf1	T	A	12: 17,226,144 (GRCm39)	S26C	probably benign	Het
Lilra6	T	C	7: 3,911,819 (GRCm39)	T280A	probably benign	Het
Lipo3	A	T	19: 33,559,539 (GRCm39)	D110E	possibly damaging	Het
Mepe	C	A	5: 104,485,316 (GRCm39)	T152N	probably benign	Het
Nr2f1	C	A	13: 78,343,275 (GRCm39)		probably benign	Het
Or5ak24	T	C	2: 85,260,810 (GRCm39)	D121G	possibly damaging	Het
Or6c214	A	G	10: 129,590,524 (GRCm39)	I265T	possibly damaging	Het
Peg3	T	C	7: 6,713,068 (GRCm39)	D718G	probably benign	Het
Phf2	A	T	13: 48,967,334 (GRCm39)		probably benign	Het
Pigc	A	T	1: 161,798,503 (GRCm39)	I162F	probably benign	Het
Raf1	A	G	6: 115,597,267 (GRCm39)	L11P	probably damaging	Het
Rlf	T	C	4: 121,007,261 (GRCm39)	Y573C	probably damaging	Het
Rnf123	G	A	9: 107,945,501 (GRCm39)	R390*	probably null	Het
Slc11a1	T	C	1: 74,424,291 (GRCm39)		probably benign	Het
Slc22a12	C	T	19: 6,590,487 (GRCm39)	M234I	probably benign	Het
Slc28a1	A	T	7: 80,814,167 (GRCm39)	I455F	probably benign	Het
Slc35f5	T	G	1: 125,512,273 (GRCm39)	L358V	probably damaging	Het
Slc47a1	A	T	11: 61,235,147 (GRCm39)	V562D	probably benign	Het
Srrm1	G	A	4: 135,052,415 (GRCm39)	P658L	unknown	Het
Ushbp1	T	C	8: 71,841,394 (GRCm39)		probably benign	Het
Vmn1r88	T	A	7: 12,911,735 (GRCm39)	Y30*	probably null	Het
Vmn2r27	A	T	6: 124,201,434 (GRCm39)	Y174*	probably null	Het
Wwox	T	C	8: 115,438,947 (GRCm39)	Y338H	possibly damaging	Het
Zfp518a	G	A	19: 40,903,061 (GRCm39)	G997R	probably damaging	Het
Zup1	A	T	10: 33,811,261 (GRCm39)		probably benign	Het

Other mutations in Rnf149

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R1316:Rnf149	UTSW	1	39,604,401 (GRCm39)	makesense	probably null
R2917:Rnf149	UTSW	1	39,591,564 (GRCm39)	missense	probably benign	0.00
R4690:Rnf149	UTSW	1	39,616,295 (GRCm39)	intron	probably benign
R5095:Rnf149	UTSW	1	39,594,737 (GRCm39)	missense	probably benign	0.19
R6084:Rnf149	UTSW	1	39,616,255 (GRCm39)	missense	probably benign	0.01
R6338:Rnf149	UTSW	1	39,599,823 (GRCm39)	missense	probably null	1.00
R7773:Rnf149	UTSW	1	39,604,299 (GRCm39)	missense	possibly damaging	0.78
R8090:Rnf149	UTSW	1	39,616,304 (GRCm39)	missense	unknown

Posted On

2015-04-16