Mutagenetix > Incidental Mutation

Incidental Mutation 'R2044:Rbm14'

221745

Institutional Source

Beutler Lab

Gene Symbol

Rbm14

Ensembl Gene

ENSMUSG00000006456

Gene Name

RNA binding motif protein 14

Synonyms

PSP2, 1300007E16Rik, p16

MMRRC Submission

040051-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R2044 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

4800569-4811634 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 4803877 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Asparagine at position 159 (I159N)

Ref Sequence

ENSEMBL: ENSMUSP00000006625 (fasta)

Gene Model

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

AlphaFold

Q8C2Q3

Predicted Effect

possibly damaging
Transcript: ENSMUST00000006625
AA Change: I159N

PolyPhen 2 Score 0.900 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000006625
Gene: ENSMUSG00000006456
AA Change: I159N

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

possibly damaging
Transcript: ENSMUST00000113793
AA Change: I159N

PolyPhen 2 Score 0.876 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000109424
Gene: ENSMUSG00000006456
AA Change: I159N

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

Meta Mutation Damage Score

0.1795

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.8%
20x: 93.7%

Validation Efficiency

98% (92/94)

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: 92 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2410137M14Rik	G	A	17: 36,978,094 (GRCm38)		probably benign	Het
Abhd15	A	G	11: 77,518,338 (GRCm38)	T293A	probably benign	Het
Aldh1l1	C	T	6: 90,562,665 (GRCm38)	P192L	probably benign	Het
Aldoart1	T	G	4: 72,852,542 (GRCm38)	I10L	probably benign	Het
Ankhd1	G	A	18: 36,645,113 (GRCm38)	G1653D	probably benign	Het
Ankk1	A	C	9: 49,419,364 (GRCm38)		probably null	Het
Astn1	A	G	1: 158,600,502 (GRCm38)	T748A	possibly damaging	Het
Bmp7	C	A	2: 172,939,915 (GRCm38)	R52L	possibly damaging	Het
Ccdc33	G	A	9: 58,031,112 (GRCm38)	P859S	possibly damaging	Het
Ccny	A	G	18: 9,449,644 (GRCm38)	S10P	probably damaging	Het
Cdc6	C	A	11: 98,910,461 (GRCm38)	F179L	probably benign	Het
Cdc7	T	A	5: 106,983,132 (GRCm38)	V491E	probably benign	Het
Cdh23	G	T	10: 60,596,730 (GRCm38)	S138R	possibly damaging	Het
Cenpc1	T	C	5: 86,037,755 (GRCm38)	H299R	probably benign	Het
Ciart	A	T	3: 95,878,701 (GRCm38)	M354K	probably benign	Het
Clasrp	G	T	7: 19,586,715 (GRCm38)		probably benign	Het
Col4a3	G	A	1: 82,696,319 (GRCm38)	G1132E	unknown	Het
Crebbp	G	A	16: 4,084,823 (GRCm38)	T2184I	probably benign	Het
Cyp2r1	A	C	7: 114,550,405 (GRCm38)	M458R	probably damaging	Het
Cyp7a1	C	A	4: 6,275,492 (GRCm38)	R27M	probably null	Het
Ddhd2	A	G	8: 25,752,165 (GRCm38)	F116L	probably damaging	Het
Dgkd	G	A	1: 87,927,691 (GRCm38)	R685K	probably benign	Het
Dnah2	A	G	11: 69,524,240 (GRCm38)	S223P	probably benign	Het
Exph5	A	T	9: 53,372,679 (GRCm38)	R353S	possibly damaging	Het
F11	C	A	8: 45,252,118 (GRCm38)	V129F	probably benign	Het
F830045P16Rik	A	T	2: 129,459,397 (GRCm38)	S454T	possibly damaging	Het
Fam124a	T	C	14: 62,587,207 (GRCm38)	I50T	probably damaging	Het
Fam20c	T	C	5: 138,756,227 (GRCm38)		probably null	Het
Fam234b	A	G	6: 135,226,914 (GRCm38)	T405A	probably benign	Het
Fbh1	C	A	2: 11,762,970 (GRCm38)	V356L	possibly damaging	Het
Flywch1	G	A	17: 23,762,313 (GRCm38)	Q132*	probably null	Het
Foxo6	T	C	4: 120,286,969 (GRCm38)	D95G	probably benign	Het
Ggt5	T	C	10: 75,604,087 (GRCm38)	F174S	probably damaging	Het
Gm7104	G	A	12: 88,285,781 (GRCm38)		noncoding transcript	Het
Gpr155	A	G	2: 73,373,633 (GRCm38)	L279P	probably damaging	Het
H2-T23	A	G	17: 36,032,191 (GRCm38)	L98P	probably damaging	Het
Heatr5a	A	G	12: 51,955,403 (GRCm38)	V250A	probably benign	Het
Heyl	A	T	4: 123,241,363 (GRCm38)	I50F	probably damaging	Het
Hist4h4	G	C	6: 136,804,103 (GRCm38)	R93G	possibly damaging	Het
Ifitm10	A	T	7: 142,356,034 (GRCm38)	S179R	probably damaging	Het
Isg15	A	T	4: 156,199,792 (GRCm38)	I93N	probably benign	Het
Itga10	G	A	3: 96,657,690 (GRCm38)	V985I	probably benign	Het
Itga10	C	T	3: 96,651,738 (GRCm38)		probably benign	Het
Kcnt2	T	C	1: 140,375,154 (GRCm38)	I144T	probably benign	Het
Klk1	A	C	7: 44,229,034 (GRCm38)	K104T	possibly damaging	Het
Lemd3	C	A	10: 120,933,442 (GRCm38)	R654L	probably damaging	Het
Lmod1	A	T	1: 135,364,387 (GRCm38)	M327L	probably benign	Het
Lonrf2	T	C	1: 38,807,050 (GRCm38)	E347G	probably benign	Het
Ltbp1	A	G	17: 75,276,432 (GRCm38)	Y409C	probably damaging	Het
Mecom	A	T	3: 29,980,592 (GRCm38)	Y312N	probably damaging	Het
Mmut	A	G	17: 40,941,451 (GRCm38)	T295A	probably benign	Het
Mrgprb3	C	T	7: 48,643,734 (GRCm38)	C23Y	possibly damaging	Het
Nadk	C	A	4: 155,585,441 (GRCm38)	L194I	probably damaging	Het
Naxd	A	G	8: 11,509,510 (GRCm38)	I182V	probably benign	Het
Nbeal1	T	A	1: 60,319,687 (GRCm38)	I1176K	probably damaging	Het
Nol4l	C	A	2: 153,529,521 (GRCm38)	R81L	possibly damaging	Het
Odad3	T	G	9: 21,991,858 (GRCm38)	T419P	possibly damaging	Het
Or4k47	T	A	2: 111,621,814 (GRCm38)	R87W	probably benign	Het
Or8g36	A	T	9: 39,511,378 (GRCm38)	M114K	probably damaging	Het
Or9s15	G	T	1: 92,596,969 (GRCm38)	R150L	probably benign	Het
Pcdh18	A	G	3: 49,754,940 (GRCm38)	V642A	probably benign	Het
Pdzk1	G	A	3: 96,855,848 (GRCm38)		probably benign	Het
Per3	C	T	4: 151,033,938 (GRCm38)	V233I	probably benign	Het
Pisd	G	A	5: 32,764,796 (GRCm38)	P267S	possibly damaging	Het
Prm1	T	A	16: 10,796,493 (GRCm38)		probably benign	Het
Ptprj	A	G	2: 90,463,095 (GRCm38)	V548A	probably damaging	Het
Ranbp3	G	A	17: 56,673,367 (GRCm38)		probably benign	Het
Raver2	T	A	4: 101,102,812 (GRCm38)	V163D	probably damaging	Het
Rfx6	G	A	10: 51,718,126 (GRCm38)	V381I	probably benign	Het
Rhobtb1	T	C	10: 69,272,863 (GRCm38)		probably benign	Het
Rpl28-ps4	T	A	6: 117,213,895 (GRCm38)		noncoding transcript	Het
Rsph10b	A	G	5: 143,967,250 (GRCm38)		probably null	Het
Rspo4	A	G	2: 151,873,093 (GRCm38)	K217E	unknown	Het
Scgb2b27	G	A	7: 34,013,285 (GRCm38)	A44V	possibly damaging	Het
Sec14l2	G	A	11: 4,111,435 (GRCm38)		probably benign	Het
Sec31b	T	C	19: 44,536,156 (GRCm38)	N101D	probably benign	Het
Sema6a	A	T	18: 47,306,429 (GRCm38)	C9*	probably null	Het
Septin5	A	C	16: 18,623,012 (GRCm38)	L331R	probably benign	Het
Slc16a11	C	A	11: 70,215,651 (GRCm38)	Y238*	probably null	Het
Slc25a12	T	C	2: 71,312,548 (GRCm38)	T210A	probably benign	Het
Slc35f1	A	T	10: 53,089,347 (GRCm38)	Y286F	probably damaging	Het
Szt2	A	T	4: 118,376,448 (GRCm38)	L2225*	probably null	Het
Thap12	T	C	7: 98,716,620 (GRCm38)	L665P	probably damaging	Het
Tpsb2	T	A	17: 25,367,724 (GRCm38)	W237R	probably damaging	Het
Tyk2	T	C	9: 21,120,341 (GRCm38)	D451G	probably damaging	Het
Ube2j1	T	A	4: 33,049,696 (GRCm38)	N231K	probably benign	Het
Vmn1r225	A	T	17: 20,502,590 (GRCm38)	T98S	possibly damaging	Het
Vmn1r87	A	T	7: 13,131,821 (GRCm38)	S180T	probably benign	Het
Vmn2r6	A	G	3: 64,537,841 (GRCm38)	V821A	probably damaging	Het
Zfp689	C	A	7: 127,444,826 (GRCm38)	G211C	probably damaging	Het
Zfp827	A	G	8: 79,076,236 (GRCm38)	D479G	probably benign	Het
Zfp995	A	C	17: 21,880,594 (GRCm38)	F220V	probably damaging	Het

Other mutations in Rbm14

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00418:Rbm14	APN	19	4,802,548 (GRCm38)	intron	probably benign
IGL00430:Rbm14	APN	19	4,811,426 (GRCm38)	missense	probably damaging	1.00
IGL02226:Rbm14	APN	19	4,801,717 (GRCm38)	unclassified	probably benign
R1732:Rbm14	UTSW	19	4,803,467 (GRCm38)	missense	probably benign	0.03
R1840:Rbm14	UTSW	19	4,801,795 (GRCm38)	intron	probably benign
R2362:Rbm14	UTSW	19	4,801,707 (GRCm38)	unclassified	probably benign
R4656:Rbm14	UTSW	19	4,811,435 (GRCm38)	missense	probably damaging	1.00
R4771:Rbm14	UTSW	19	4,802,643 (GRCm38)	intron	probably benign
R5081:Rbm14	UTSW	19	4,802,795 (GRCm38)	missense	probably benign	0.23
R5729:Rbm14	UTSW	19	4,802,549 (GRCm38)	intron	probably benign
R6432:Rbm14	UTSW	19	4,803,163 (GRCm38)	intron	probably benign
R6905:Rbm14	UTSW	19	4,803,236 (GRCm38)	intron	probably benign
R9498:Rbm14	UTSW	19	4,803,467 (GRCm38)	missense	probably benign	0.03
R9568:Rbm14	UTSW	19	4,811,436 (GRCm38)	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- TCAGAGGCGCCACATAAGAG -3'
(R):5'- TCCAGTTTGGGACCCACTAG -3'

Sequencing Primer
(F):5'- GCCACATAAGAGGCTCGAG -3'
(R):5'- CACTAGGTAGCATGCCCTG -3'

Posted On

2014-08-25