Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00987:Rnf144b'

28910

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Rnf144b

Ensembl Gene

ENSMUSG00000038068

Gene Name

ring finger protein 144B

Synonyms

Ibrdc2, E130105P19Rik

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL00987

Quality Score

Status

Chromosome

Chromosomal Location

47276196-47401470 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 47360969 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Aspartic acid at position 36 (E36D)

Ref Sequence

ENSEMBL: ENSMUSP00000105738 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000068891] [ENSMUST00000110111]

AlphaFold

Q8BKD6

Predicted Effect

possibly damaging
Transcript: ENSMUST00000068891
AA Change: E36D

PolyPhen 2 Score 0.567 (Sensitivity: 0.88; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000071017
Gene: ENSMUSG00000038068
AA Change: E36D

Domain	Start	End	E-Value	Type
RING	30	78	2.24e0	SMART
IBR	101	166	2.16e-16	SMART
IBR	172	238	1.3e0	SMART
RING	191	283	6.17e-2	SMART

Predicted Effect

possibly damaging
Transcript: ENSMUST00000110111
AA Change: E36D

PolyPhen 2 Score 0.567 (Sensitivity: 0.88; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000105738
Gene: ENSMUSG00000038068
AA Change: E36D

Domain	Start	End	E-Value	Type
RING	30	78	2.24e0	SMART
IBR	101	166	2.16e-16	SMART
IBR	172	238	1.3e0	SMART
RING	191	283	6.17e-2	SMART

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 33 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acot9	T	C	X: 154,078,177 (GRCm39)	I241T	probably benign	Het
Atp5mc3	T	A	2: 73,740,270 (GRCm39)	R19*	probably null	Het
Celf4	T	C	18: 25,620,007 (GRCm39)	D420G	probably damaging	Het
Cideb	C	A	14: 55,992,017 (GRCm39)	R179L	possibly damaging	Het
Cmtr1	G	A	17: 29,916,143 (GRCm39)	R591H	probably benign	Het
Dync1li2	A	T	8: 105,169,130 (GRCm39)	S34T	possibly damaging	Het
Eri2	A	G	7: 119,390,389 (GRCm39)	Y80H	probably damaging	Het
Eya2	A	G	2: 165,596,401 (GRCm39)	E304G	probably damaging	Het
Fam135a	A	C	1: 24,094,979 (GRCm39)	L130V	probably damaging	Het
Fancb	A	T	X: 163,774,594 (GRCm39)	K410N	probably damaging	Het
Gabpb2	A	C	3: 95,107,502 (GRCm39)	V191G	probably damaging	Het
Gfm1	A	G	3: 67,345,893 (GRCm39)	H197R	possibly damaging	Het
Gm11595	A	G	11: 99,663,365 (GRCm39)	V105A	unknown	Het
Hectd3	T	A	4: 116,856,840 (GRCm39)	D462E	probably damaging	Het
Herc1	G	T	9: 66,315,334 (GRCm39)	V1139L	probably benign	Het
Itgal	T	C	7: 126,901,183 (GRCm39)	F190L	probably damaging	Het
Krt87	G	A	15: 101,336,327 (GRCm39)	H109Y	probably benign	Het
Lmf2	T	C	15: 89,238,771 (GRCm39)	Y115C	probably benign	Het
Papolg	T	A	11: 23,826,377 (GRCm39)	Y259F	possibly damaging	Het
Parn	T	C	16: 13,485,467 (GRCm39)	I10V	probably benign	Het
Pdcd11	T	A	19: 47,102,989 (GRCm39)		probably benign	Het
Phldb2	T	A	16: 45,583,465 (GRCm39)	Q1003L	possibly damaging	Het
Pigg	T	A	5: 108,489,944 (GRCm39)	F850I	probably damaging	Het
Pkp4	T	C	2: 59,138,701 (GRCm39)	L317P	probably damaging	Het
Polr2a	T	C	11: 69,634,620 (GRCm39)		probably benign	Het
Prdm16	G	A	4: 154,426,426 (GRCm39)	T453M	possibly damaging	Het
Ryr2	G	A	13: 11,750,388 (GRCm39)	T1961I	probably damaging	Het
Sash1	T	A	10: 8,627,177 (GRCm39)	K305I	probably damaging	Het
Tbc1d7	A	T	13: 43,312,797 (GRCm39)	I32N	probably damaging	Het
Thop1	T	C	10: 80,917,529 (GRCm39)	F623L	probably damaging	Het
Thsd7b	G	A	1: 129,541,016 (GRCm39)	G297R	probably damaging	Het
Tln1	C	A	4: 43,551,297 (GRCm39)		probably benign	Het
Vmn1r183	A	G	7: 23,754,649 (GRCm39)	N151D	probably damaging	Het

Other mutations in Rnf144b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00814:Rnf144b	APN	13	47,373,964 (GRCm39)	splice site	probably benign
IGL02712:Rnf144b	APN	13	47,393,255 (GRCm39)	missense	probably damaging	1.00
IGL03002:Rnf144b	APN	13	47,396,359 (GRCm39)	missense	probably damaging	1.00
R0418:Rnf144b	UTSW	13	47,397,966 (GRCm39)	missense	probably benign	0.00
R0464:Rnf144b	UTSW	13	47,396,363 (GRCm39)	nonsense	probably null
R0652:Rnf144b	UTSW	13	47,373,983 (GRCm39)	missense	probably damaging	1.00
R0932:Rnf144b	UTSW	13	47,374,001 (GRCm39)	missense	probably null	0.44
R1472:Rnf144b	UTSW	13	47,396,361 (GRCm39)	missense	probably damaging	1.00
R2341:Rnf144b	UTSW	13	47,373,976 (GRCm39)	missense	probably benign	0.05
R4306:Rnf144b	UTSW	13	47,396,418 (GRCm39)	missense	probably damaging	1.00
R4308:Rnf144b	UTSW	13	47,396,418 (GRCm39)	missense	probably damaging	1.00
R4523:Rnf144b	UTSW	13	47,361,013 (GRCm39)	missense	probably benign	0.08
R5591:Rnf144b	UTSW	13	47,396,430 (GRCm39)	critical splice donor site	probably null
R7323:Rnf144b	UTSW	13	47,393,258 (GRCm39)	missense	probably damaging	1.00
R7887:Rnf144b	UTSW	13	47,393,287 (GRCm39)	missense	probably damaging	1.00
R8676:Rnf144b	UTSW	13	47,382,452 (GRCm39)	missense	probably damaging	1.00
R9159:Rnf144b	UTSW	13	47,396,348 (GRCm39)	missense	probably damaging	1.00
R9708:Rnf144b	UTSW	13	47,397,912 (GRCm39)	missense	probably damaging	1.00
X0064:Rnf144b	UTSW	13	47,390,940 (GRCm39)	missense	probably benign	0.00

Posted On

2013-04-17