Mutagenetix > Incidental Mutation

Incidental Mutation 'R9568:Rbm14'

721804

Institutional Source

Beutler Lab

Gene Symbol

Rbm14

Ensembl Gene

ENSMUSG00000006456

Gene Name

RNA binding motif protein 14

Synonyms

1300007E16Rik, PSP2, p16

MMRRC Submission

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R9568 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

4850597-4861662 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 4861464 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Histidine at position 25 (Y25H)

Ref Sequence

ENSEMBL: ENSMUSP00000006625 (fasta)

Gene Model

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

AlphaFold

Q8C2Q3

Predicted Effect

probably damaging
Transcript: ENSMUST00000006625
AA Change: Y25H

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000006625
Gene: ENSMUSG00000006456
AA Change: Y25H

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: Y25H

PolyPhen 2 Score 0.905 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000109424
Gene: ENSMUSG00000006456
AA Change: Y25H

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 damaging
Transcript: ENSMUST00000172000
AA Change: Y25H

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000128810
Gene: ENSMUSG00000096370
AA Change: Y25H

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

probably benign
Transcript: ENSMUST00000178353
AA Change: Y25H

PolyPhen 2 Score 0.090 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000136599
Gene: ENSMUSG00000096370
AA Change: Y25H

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

probably damaging
Transcript: ENSMUST00000179909
AA Change: Y25H

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000136623
Gene: ENSMUSG00000096370
AA Change: Y25H

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
AA Change: Y25H

PolyPhen 2 Score 0.186 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000137466
Gene: ENSMUSG00000006456
AA Change: Y25H

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.9%

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: 74 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam6a	T	G	12: 113,508,020 (GRCm39)	V131G	possibly damaging	Het
Agr3	G	T	12: 35,998,349 (GRCm39)	M149I	probably benign	Het
Alox12b	T	A	11: 69,054,836 (GRCm39)	C280S	possibly damaging	Het
Amhr2	C	A	15: 102,353,954 (GRCm39)	Q16K	probably benign	Het
Ank1	A	G	8: 23,609,381 (GRCm39)	T1387A	probably benign	Het
B3gnt9	A	C	8: 105,980,203 (GRCm39)	F395C	probably damaging	Het
BC048562	A	G	9: 108,322,905 (GRCm39)	D80G	probably damaging	Het
Ccdc65	T	A	15: 98,620,819 (GRCm39)	M438K	possibly damaging	Het
Ccz1	T	C	5: 143,938,251 (GRCm39)	R240G	probably damaging	Het
Cish	A	T	9: 107,177,593 (GRCm39)	S90C	probably benign	Het
Col5a2	A	T	1: 45,430,998 (GRCm39)	S881T	possibly damaging	Het
Col6a6	G	A	9: 105,657,926 (GRCm39)	T762I	possibly damaging	Het
Cpa1	A	G	6: 30,640,060 (GRCm39)	K49E	probably benign	Het
Cpb1	T	C	3: 20,320,697 (GRCm39)		probably null	Het
Csmd3	A	G	15: 48,150,942 (GRCm39)	S483P	probably damaging	Het
Cul9	G	A	17: 46,831,044 (GRCm39)	T1643I	possibly damaging	Het
Dock2	T	C	11: 34,599,638 (GRCm39)	K314E	possibly damaging	Het
Elp1	G	T	4: 56,786,711 (GRCm39)	P411T	probably damaging	Het
Fam186b	T	G	15: 99,176,571 (GRCm39)	K773T	probably damaging	Het
Fancl	T	A	11: 26,418,672 (GRCm39)	V259E	probably benign	Het
Fat4	T	G	3: 38,946,156 (GRCm39)	I1683S	probably damaging	Het
Fcamr	T	A	1: 130,732,356 (GRCm39)	H114Q	probably damaging	Het
Fndc11	T	C	2: 180,864,046 (GRCm39)	F284L	probably damaging	Het
Galns	A	G	8: 123,311,649 (GRCm39)		probably null	Het
Gch1	A	G	14: 47,426,637 (GRCm39)	S30P	probably benign	Het
Gcnt3	A	G	9: 69,942,346 (GRCm39)	I74T	probably benign	Het
Gfral	A	T	9: 76,104,383 (GRCm39)	C210S	probably damaging	Het
Gm26566	G	A	4: 88,640,247 (GRCm39)	A13T	unknown	Het
Gm9936	A	T	5: 114,995,166 (GRCm39)	D150E	unknown	Het
Gsn	C	A	2: 35,174,003 (GRCm39)	D75E	probably benign	Het
Ighd2-7	T	C	12: 113,420,344 (GRCm39)	T5A	possibly damaging	Het
Itsn1	G	T	16: 91,649,782 (GRCm39)	R152L	probably benign	Het
Klhl3	A	T	13: 58,157,126 (GRCm39)	L620Q	probably damaging	Het
Larp7-ps	G	T	4: 92,079,915 (GRCm39)	Y24*	probably null	Het
Lpl	G	A	8: 69,340,235 (GRCm39)	V77M	probably benign	Het
Lrfn3	A	T	7: 30,058,916 (GRCm39)	H436Q	probably benign	Het
Lrp1b	A	G	2: 40,569,227 (GRCm39)	C3965R		Het
Lrrc2	G	A	9: 110,799,228 (GRCm39)		probably null	Het
Manea	C	A	4: 26,340,468 (GRCm39)	D165Y	probably damaging	Het
Myom1	A	T	17: 71,394,476 (GRCm39)	Q992L	probably damaging	Het
Naip5	T	C	13: 100,359,821 (GRCm39)	T472A	probably benign	Het
Naip5	T	A	13: 100,356,338 (GRCm39)	E1092D	probably benign	Het
Nyap1	C	T	5: 137,733,394 (GRCm39)	W546*	probably null	Het
Olfml3	T	G	3: 103,644,282 (GRCm39)	Y129S	possibly damaging	Het
Or4d5	A	T	9: 40,011,864 (GRCm39)	D307E	probably benign	Het
Or5h19	C	A	16: 58,856,213 (GRCm39)	V296F	probably damaging	Het
Or6z5	A	G	7: 6,477,334 (GRCm39)	E75G	probably damaging	Het
Or9k2b	T	A	10: 130,015,814 (GRCm39)	I312F	probably benign	Het
P2rx6	A	C	16: 17,385,300 (GRCm39)		probably null	Het
Plxnb2	A	T	15: 89,045,160 (GRCm39)	Y1095*	probably null	Het
Pmepa1	G	A	2: 173,069,794 (GRCm39)	R216C	probably damaging	Het
Prodh	A	G	16: 17,902,619 (GRCm39)		probably benign	Het
Ptch1	A	G	13: 63,689,987 (GRCm39)	Y389H	probably damaging	Het
Ptgs2	G	T	1: 149,976,842 (GRCm39)		probably null	Het
Rfc2	T	C	5: 134,622,112 (GRCm39)	L197P	probably damaging	Het
Rnf19b	G	T	4: 128,967,397 (GRCm39)	W313L	probably damaging	Het
Sh3rf1	G	T	8: 61,825,585 (GRCm39)	A527S	probably benign	Het
Slc12a1	A	G	2: 125,032,218 (GRCm39)	Y623C	probably damaging	Het
Slc25a54	T	A	3: 109,005,932 (GRCm39)	W147R	probably damaging	Het
Slc4a1	A	G	11: 102,247,680 (GRCm39)	L401P	probably damaging	Het
Slc4a7	A	G	14: 14,796,073 (GRCm38)		probably null	Het
Stab2	A	G	10: 86,699,420 (GRCm39)	Y1933H	probably damaging	Het
Supt5	A	T	7: 28,014,688 (GRCm39)	V1037E	probably damaging	Het
Sv2b	A	T	7: 74,775,428 (GRCm39)	H466Q	probably benign	Het
Tmco5	G	A	2: 116,710,730 (GRCm39)	E17K	probably damaging	Het
Tmem69	G	A	4: 116,411,972 (GRCm39)	S12F	probably damaging	Het
Trp53	C	A	11: 69,478,392 (GRCm39)	Y100*	probably null	Het
Trpm7	A	T	2: 126,664,510 (GRCm39)	H956Q	probably benign	Het
Tsnaxip1	G	A	8: 106,569,135 (GRCm39)	R495H	probably benign	Het
Vmn1r237	A	T	17: 21,534,777 (GRCm39)	I167F	probably benign	Het
Vmn1r70	A	G	7: 10,368,292 (GRCm39)	D260G	probably benign	Het
Zbtb38	G	A	9: 96,570,944 (GRCm39)	H47Y	probably damaging	Het
Zfp184	G	T	13: 22,142,897 (GRCm39)	C201F	probably benign	Het
Zfp384	T	A	6: 125,001,796 (GRCm39)	I147N	possibly 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
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

Predicted Primers

PCR Primer
(F):5'- TTGCCCACGAAAATCTTCCAAG -3'
(R):5'- TGCCGCCTCCAATTGGTTAG -3'

Sequencing Primer
(F):5'- AAATCTTCCAAGTGTTCAGGGGC -3'
(R):5'- CCTCCAATTGGTTAGGTTAGAGC -3'

Posted On

2022-08-09