Mutagenetix > Incidental Mutation

Incidental Mutation 'R1732:Rbm14'

199434

Institutional Source

Beutler Lab

Gene Symbol

Rbm14

Ensembl Gene

ENSMUSG00000006456

Gene Name

RNA binding motif protein 14

Synonyms

1300007E16Rik, PSP2, p16

MMRRC Submission

039764-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1732 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

4850597-4861662 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 4853495 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 296 (S296P)

Ref Sequence

ENSEMBL: ENSMUSP00000006625 (fasta)

Gene Model

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

AlphaFold

Q8C2Q3

Predicted Effect

probably benign
Transcript: ENSMUST00000006625
AA Change: S296P

PolyPhen 2 Score 0.030 (Sensitivity: 0.95; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000006625
Gene: ENSMUSG00000006456
AA Change: S296P

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: ENSMUST00000113793
AA Change: S296P

PolyPhen 2 Score 0.011 (Sensitivity: 0.96; Specificity: 0.78)

SMART Domains

Protein: ENSMUSP00000109424
Gene: ENSMUSG00000006456
AA Change: S296P

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

0.0599

Coding Region Coverage

1x: 97.4%
3x: 96.8%
10x: 95.1%
20x: 91.6%

Validation Efficiency

99% (78/79)

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: 73 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2700049A03Rik	C	A	12: 71,265,995 (GRCm39)	Q1445K	probably benign	Het
Acacb	A	T	5: 114,328,148 (GRCm39)	M303L	possibly damaging	Het
Actl9	T	C	17: 33,652,096 (GRCm39)	V52A	probably damaging	Het
Adam7	T	C	14: 68,735,899 (GRCm39)	T781A	probably benign	Het
Agpat4	T	C	17: 12,435,615 (GRCm39)	V293A	probably benign	Het
Ank1	T	A	8: 23,601,479 (GRCm39)		probably benign	Het
Atp1a1	C	A	3: 101,492,115 (GRCm39)	G587V	probably damaging	Het
Avpr1b	T	C	1: 131,527,992 (GRCm39)	F172L	probably damaging	Het
Bmp1	A	T	14: 70,723,705 (GRCm39)	D710E	possibly damaging	Het
Cep126	A	T	9: 8,099,762 (GRCm39)	I924N	probably benign	Het
Chek2	G	T	5: 111,019,968 (GRCm39)	A517S	probably benign	Het
Cmbl	A	T	15: 31,588,378 (GRCm39)	E165D	probably damaging	Het
Cntnap3	A	T	13: 64,888,626 (GRCm39)		probably null	Het
Col1a1	A	T	11: 94,835,241 (GRCm39)		probably benign	Het
Ctbp2	T	C	7: 132,600,653 (GRCm39)	M624V	possibly damaging	Het
Cwc15	A	G	9: 14,421,543 (GRCm39)	D203G	probably benign	Het
Cyld	C	T	8: 89,458,295 (GRCm39)		probably benign	Het
Cyp3a57	A	T	5: 145,302,455 (GRCm39)	I84F	probably damaging	Het
Dennd3	T	A	15: 73,409,267 (GRCm39)		probably benign	Het
Desi2	A	C	1: 178,084,217 (GRCm39)		probably benign	Het
Dmxl1	T	A	18: 50,026,511 (GRCm39)	L1873*	probably null	Het
Dmxl1	T	A	18: 50,036,055 (GRCm39)	H2359Q	probably benign	Het
Ephb4	A	G	5: 137,370,440 (GRCm39)	N880S	possibly damaging	Het
F10	T	C	8: 13,100,764 (GRCm39)	L214P	probably damaging	Het
F5	G	A	1: 164,001,719 (GRCm39)	V141M	probably damaging	Het
Fam135a	A	T	1: 24,065,734 (GRCm39)	S1022T	possibly damaging	Het
Fam13b	A	T	18: 34,620,187 (GRCm39)	N232K	probably benign	Het
Fyco1	T	C	9: 123,648,157 (GRCm39)	E1259G	probably benign	Het
Gak	A	T	5: 108,724,448 (GRCm39)	D1087E	probably benign	Het
Gm7138	A	T	10: 77,612,682 (GRCm39)		probably benign	Het
Gm8674	T	A	13: 50,055,962 (GRCm39)		noncoding transcript	Het
Gpr25	A	G	1: 136,187,866 (GRCm39)	V249A	probably benign	Het
Hcn3	T	C	3: 89,055,426 (GRCm39)	H607R	probably damaging	Het
Hdac4	T	A	1: 91,875,257 (GRCm39)	T905S	probably benign	Het
Itgad	T	C	7: 127,804,279 (GRCm39)	S86P	probably benign	Het
Itgb4	G	T	11: 115,879,744 (GRCm39)	R632L	probably damaging	Het
Kcnb2	A	T	1: 15,779,979 (GRCm39)	T284S	probably benign	Het
Klhl22	T	A	16: 17,594,888 (GRCm39)	M339K	probably damaging	Het
Lonrf2	G	A	1: 38,852,357 (GRCm39)	P165S	probably benign	Het
Mybpc2	C	A	7: 44,163,099 (GRCm39)	V484L	probably benign	Het
Noa1	A	T	5: 77,454,221 (GRCm39)	V473E	probably benign	Het
Nwd1	C	G	8: 73,393,463 (GRCm39)	S242C	possibly damaging	Het
Or55b10	C	A	7: 102,143,247 (GRCm39)	C245F	probably damaging	Het
Or7e174	A	G	9: 20,012,796 (GRCm39)	H247R	probably damaging	Het
Otof	A	T	5: 30,543,815 (GRCm39)	W535R	probably damaging	Het
Peg3	T	C	7: 6,712,084 (GRCm39)	E1046G	possibly damaging	Het
Phldb2	T	C	16: 45,577,529 (GRCm39)	E1132G	probably damaging	Het
Phtf2	A	T	5: 20,994,625 (GRCm39)		probably null	Het
Plce1	G	T	19: 38,705,282 (GRCm39)	A896S	possibly damaging	Het
Prim1	T	C	10: 127,851,193 (GRCm39)	Y26H	probably damaging	Het
Prr12	T	A	7: 44,697,780 (GRCm39)	T712S	unknown	Het
Psme4	G	A	11: 30,798,105 (GRCm39)	R1366H	probably benign	Het
Ptpdc1	T	C	13: 48,740,021 (GRCm39)	E409G	probably benign	Het
Rabep1	A	G	11: 70,795,467 (GRCm39)	N274S	probably damaging	Het
Rec114	A	G	9: 58,560,389 (GRCm39)	S206P	probably damaging	Het
Rps6ka1	A	T	4: 133,587,381 (GRCm39)	Y531N	probably damaging	Het
Slc28a2	T	C	2: 122,280,239 (GRCm39)		probably benign	Het
Slc34a1	A	G	13: 55,561,233 (GRCm39)	H566R	probably benign	Het
Slc9c1	A	G	16: 45,373,291 (GRCm39)	T290A	probably benign	Het
Smarcc1	T	A	9: 110,014,888 (GRCm39)		probably benign	Het
Srp54b	T	A	12: 55,299,544 (GRCm39)		probably null	Het
Stambpl1	C	G	19: 34,204,121 (GRCm39)	N70K	probably damaging	Het
Synj1	T	C	16: 90,761,118 (GRCm39)	K710E	probably damaging	Het
Tenm3	T	A	8: 48,763,669 (GRCm39)	D795V	probably damaging	Het
Tgm2	T	C	2: 157,976,277 (GRCm39)	Y149C	probably damaging	Het
Tmem151a	C	A	19: 5,132,895 (GRCm39)	A104S	probably damaging	Het
Top1mt	A	G	15: 75,538,100 (GRCm39)		probably null	Het
Tpgs1	T	A	10: 79,511,428 (GRCm39)	L190Q	possibly damaging	Het
Triobp	T	A	15: 78,851,428 (GRCm39)	H527Q	possibly damaging	Het
Tspan2	A	G	3: 102,676,193 (GRCm39)	I197V	probably damaging	Het
Ube3b	A	G	5: 114,525,506 (GRCm39)	I76V	probably benign	Het
Vmn1r32	A	T	6: 66,530,285 (GRCm39)	S164T	probably benign	Het
Zfp607a	G	T	7: 27,577,884 (GRCm39)	C318F	probably damaging	Het

Other mutations in Rbm14

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00418:Rbm14	APN	19	4,852,576 (GRCm39)	intron	probably benign
IGL00430:Rbm14	APN	19	4,861,454 (GRCm39)	missense	probably damaging	1.00
IGL02226:Rbm14	APN	19	4,851,745 (GRCm39)	unclassified	probably benign
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

Predicted Primers

PCR Primer
(F):5'- TGTTATAGGAAGAAGCAGCCGCAC -3'
(R):5'- AGCAGGCTTTTGGCAACAGCAC -3'

Sequencing Primer
(F):5'- CCATACGAAGAGGCAGCCTG -3'
(R):5'- CGAGCCTCTTATGTGGCG -3'

Posted On

2014-05-23