Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00418:Rbm14'

3271

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Rbm14

Ensembl Gene

ENSMUSG00000006456

Gene Name

RNA binding motif protein 14

Synonyms

1300007E16Rik, PSP2, p16

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL00418

Quality Score

Status

Chromosome

Chromosomal Location

4850597-4861662 bp(-) (GRCm39)

Type of Mutation

intron

DNA Base Change (assembly)

T to C at 4852576 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000137466 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000006625] [ENSMUST00000113793] [ENSMUST00000172000] [ENSMUST00000178353] [ENSMUST00000179909] [ENSMUST00000180008]

AlphaFold

Q8C2Q3

Predicted Effect

probably benign
Transcript: ENSMUST00000006625

SMART Domains

Protein: ENSMUSP00000006625
Gene: ENSMUSG00000006456

Domain	Start	End	E-Value	Type
RRM	2	69	1.96e-17	SMART
RRM	80	145	2.52e-20	SMART
low complexity region	212	225	N/A	INTRINSIC
low complexity region	287	304	N/A	INTRINSIC
low complexity region	346	357	N/A	INTRINSIC
low complexity region	368	458	N/A	INTRINSIC
low complexity region	483	511	N/A	INTRINSIC
low complexity region	519	532	N/A	INTRINSIC

Predicted Effect

unknown
Transcript: ENSMUST00000113793
AA Change: Y602C

SMART Domains

Protein: ENSMUSP00000109424
Gene: ENSMUSG00000006456
AA Change: Y602C

Domain	Start	End	E-Value	Type
RRM	2	69	1.96e-17	SMART
RRM	80	145	2.52e-20	SMART
low complexity region	212	225	N/A	INTRINSIC
low complexity region	287	304	N/A	INTRINSIC
low complexity region	346	357	N/A	INTRINSIC
low complexity region	368	458	N/A	INTRINSIC
low complexity region	483	511	N/A	INTRINSIC
low complexity region	519	532	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000172000

SMART Domains

Protein: ENSMUSP00000128810
Gene: ENSMUSG00000096370

Domain	Start	End	E-Value	Type
RRM	2	69	1.96e-17	SMART
Pfam:RRM_1	81	116	1.5e-5	PFAM
RRM	119	184	5.4e-20	SMART
RRM	195	260	4.77e-21	SMART
ZnF_C2HC	277	293	1.75e-5	SMART
low complexity region	343	362	N/A	INTRINSIC
low complexity region	399	412	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000177776

Predicted Effect

probably benign
Transcript: ENSMUST00000178353

SMART Domains

Protein: ENSMUSP00000136599
Gene: ENSMUSG00000096370

Domain	Start	End	E-Value	Type
RRM	2	69	1.96e-17	SMART
Pfam:RRM_1	81	118	5.6e-7	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000178404

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000178699

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000178727

Predicted Effect

probably benign
Transcript: ENSMUST00000179909

SMART Domains

Protein: ENSMUSP00000136623
Gene: ENSMUSG00000096370

Domain	Start	End	E-Value	Type
RRM	2	69	1.96e-17	SMART
RRM	80	138	1.83e0	SMART
ZnF_C2HC	136	152	1.75e-5	SMART
low complexity region	202	221	N/A	INTRINSIC
low complexity region	258	271	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000180008

SMART Domains

Protein: ENSMUSP00000137466
Gene: ENSMUSG00000006456

Domain	Start	End	E-Value	Type
RRM	2	69	1.96e-17	SMART
Pfam:RRM_1	81	118	6e-7	PFAM

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a ribonucleoprotein that functions as a general nuclear coactivator, and an RNA splicing modulator. This protein contains two RNA recognition motifs (RRM) at the N-terminus, and multiple hexapeptide repeat domain at the C-terminus that interacts with thyroid hormone receptor-binding protein (TRBP), and is required for transcription activation. Alternatively spliced transcript variants encoding different isoforms (with opposing effects on transcription) have been described for this gene. [provided by RefSeq, Oct 2011]

Allele List at MGI

Other mutations in this stock

Total: 44 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2700097O09Rik	A	G	12: 55,095,748 (GRCm39)	I238T	probably damaging	Het
Akap4	T	C	X: 6,942,729 (GRCm39)	V344A	possibly damaging	Het
Apex2	T	C	X: 149,355,048 (GRCm39)	K430E	probably benign	Het
Aqp9	C	T	9: 71,040,013 (GRCm39)	A90T	probably damaging	Het
Asb15	T	A	6: 24,558,642 (GRCm39)		probably benign	Het
Barhl2	C	T	5: 106,603,365 (GRCm39)	A265T	possibly damaging	Het
Bspry	G	T	4: 62,414,342 (GRCm39)	D312Y	probably benign	Het
Cdh16	G	A	8: 105,350,045 (GRCm39)	R5W	probably benign	Het
Ciz1	C	T	2: 32,262,400 (GRCm39)	R461C	probably damaging	Het
Cldn14	T	A	16: 93,716,189 (GRCm39)	D219V	probably benign	Het
Clpb	A	T	7: 101,436,952 (GRCm39)	T706S	probably benign	Het
Cyp2d11	A	T	15: 82,276,669 (GRCm39)	M90K	probably benign	Het
Cyp2j8	T	A	4: 96,332,853 (GRCm39)	I498F	possibly damaging	Het
Dnah2	A	G	11: 69,385,892 (GRCm39)		probably benign	Het
Dpyd	T	A	3: 118,737,891 (GRCm39)	F477L	probably damaging	Het
Dscaml1	C	A	9: 45,581,498 (GRCm39)	S439*	probably null	Het
Faxc	A	G	4: 21,958,490 (GRCm39)	K216E	possibly damaging	Het
Fmo1	C	T	1: 162,663,815 (GRCm39)	R238Q	probably damaging	Het
Gm14399	G	A	2: 174,973,315 (GRCm39)	R147*	probably null	Het
H2-Ab1	G	A	17: 34,486,549 (GRCm39)	V203M	probably damaging	Het
Heatr5b	T	C	17: 79,060,570 (GRCm39)	E2035G	probably damaging	Het
Hip1	A	G	5: 135,455,200 (GRCm39)	I786T	probably damaging	Het
Homer1	T	C	13: 93,524,196 (GRCm39)		probably benign	Het
Igkv9-120	A	G	6: 68,026,971 (GRCm39)	D2G	possibly damaging	Het
Irgm1	A	T	11: 48,756,832 (GRCm39)	Y326*	probably null	Het
Kctd19	A	T	8: 106,115,095 (GRCm39)		probably null	Het
Large1	T	C	8: 73,550,469 (GRCm39)		probably null	Het
Mzf1	G	A	7: 12,778,543 (GRCm39)	A287V	possibly damaging	Het
Nes	A	T	3: 87,883,561 (GRCm39)	K607*	probably null	Het
Pars2	T	A	4: 106,511,247 (GRCm39)	V307E	probably damaging	Het
Pcsk5	T	A	19: 17,488,785 (GRCm39)	I1012F	possibly damaging	Het
Pole	T	C	5: 110,451,431 (GRCm39)		probably benign	Het
Scn2a	A	T	2: 65,594,866 (GRCm39)	Q1905L	probably benign	Het
Slc26a2	A	G	18: 61,331,812 (GRCm39)	F540L	probably benign	Het
Slco2a1	T	C	9: 102,956,640 (GRCm39)		probably benign	Het
Tas2r106	T	C	6: 131,654,922 (GRCm39)		probably null	Het
Tmem175	T	A	5: 108,793,732 (GRCm39)	D287E	probably benign	Het
Trappc12	T	C	12: 28,787,835 (GRCm39)	K416R	probably damaging	Het
Trim2	A	G	3: 84,115,596 (GRCm39)	L86P	probably damaging	Het
Vps13c	T	A	9: 67,783,544 (GRCm39)	N240K	probably damaging	Het
Wdr90	A	C	17: 26,068,338 (GRCm39)	I1330S	probably damaging	Het
Wfdc6a	A	G	2: 164,426,914 (GRCm39)		probably null	Het
Zc3h12c	C	T	9: 52,027,965 (GRCm39)	V466M	probably damaging	Het
Zswim8	A	G	14: 20,768,543 (GRCm39)	T1025A	probably damaging	Het

Other mutations in Rbm14

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00430:Rbm14	APN	19	4,861,454 (GRCm39)	missense	probably damaging	1.00
IGL02226:Rbm14	APN	19	4,851,745 (GRCm39)	unclassified	probably benign
R1732:Rbm14	UTSW	19	4,853,495 (GRCm39)	missense	probably benign	0.03
R1840:Rbm14	UTSW	19	4,851,823 (GRCm39)	intron	probably benign
R2044:Rbm14	UTSW	19	4,853,905 (GRCm39)	missense	possibly damaging	0.90
R2362:Rbm14	UTSW	19	4,851,735 (GRCm39)	unclassified	probably benign
R4656:Rbm14	UTSW	19	4,861,463 (GRCm39)	missense	probably damaging	1.00
R4771:Rbm14	UTSW	19	4,852,671 (GRCm39)	intron	probably benign
R5081:Rbm14	UTSW	19	4,852,823 (GRCm39)	missense	probably benign	0.23
R5729:Rbm14	UTSW	19	4,852,577 (GRCm39)	intron	probably benign
R6432:Rbm14	UTSW	19	4,853,191 (GRCm39)	intron	probably benign
R6905:Rbm14	UTSW	19	4,853,264 (GRCm39)	intron	probably benign
R9498:Rbm14	UTSW	19	4,853,495 (GRCm39)	missense	probably benign	0.03
R9568:Rbm14	UTSW	19	4,861,464 (GRCm39)	missense	probably damaging	0.99

Posted On

2012-04-20