Mutagenetix > Incidental Mutation

Incidental Mutation 'R4621:Rbm5'

346160

Institutional Source

Beutler Lab

Gene Symbol

Rbm5

Ensembl Gene

ENSMUSG00000032580

Gene Name

RNA binding motif protein 5

Synonyms

D030069N10Rik

MMRRC Submission

041886-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.928) question?

Stock #

R4621 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

107617694-107648228 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 107631345 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 244 (V244A)

Ref Sequence

ENSEMBL: ENSMUSP00000138379 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000035199] [ENSMUST00000182304] [ENSMUST00000182371] [ENSMUST00000182421] [ENSMUST00000182659] [ENSMUST00000192130]

AlphaFold

Q91YE7

Predicted Effect

probably damaging
Transcript: ENSMUST00000035199
AA Change: V244A

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000035199
Gene: ENSMUSG00000032580
AA Change: V244A

Domain	Start	End	E-Value	Type
low complexity region	21	74	N/A	INTRINSIC
RRM	99	174	5.98e-13	SMART
ZnF_RBZ	183	207	1.53e-6	SMART
RRM	232	311	9.5e-7	SMART
low complexity region	329	355	N/A	INTRINSIC
low complexity region	362	385	N/A	INTRINSIC
low complexity region	393	410	N/A	INTRINSIC
low complexity region	425	446	N/A	INTRINSIC
Blast:RRM_2	483	506	1e-5	BLAST
low complexity region	520	536	N/A	INTRINSIC
low complexity region	569	581	N/A	INTRINSIC
low complexity region	627	641	N/A	INTRINSIC
ZnF_C2H2	647	672	5.2e0	SMART
coiled coil region	673	707	N/A	INTRINSIC
G_patch	741	787	1.85e-21	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000182007

Predicted Effect

probably damaging
Transcript: ENSMUST00000182304
AA Change: V244A

PolyPhen 2 Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000138380
Gene: ENSMUSG00000032580
AA Change: V244A

Domain	Start	End	E-Value	Type
low complexity region	21	74	N/A	INTRINSIC
RRM	99	174	5.98e-13	SMART
ZnF_RBZ	183	207	1.53e-6	SMART
PDB:2LKZ\|A	231	251	5e-6	PDB

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000182332

Predicted Effect

probably benign
Transcript: ENSMUST00000182371

SMART Domains

Protein: ENSMUSP00000138119
Gene: ENSMUSG00000032580

Domain	Start	End	E-Value	Type
low complexity region	21	74	N/A	INTRINSIC
SCOP:d1h6kx_	96	138	6e-3	SMART
Blast:RRM	99	136	3e-19	BLAST

Predicted Effect

probably benign
Transcript: ENSMUST00000182421

SMART Domains

Protein: ENSMUSP00000138778
Gene: ENSMUSG00000032580

Domain	Start	End	E-Value	Type
low complexity region	21	59	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000182422

Predicted Effect

probably damaging
Transcript: ENSMUST00000182659
AA Change: V244A

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000138379
Gene: ENSMUSG00000032580
AA Change: V244A

Domain	Start	End	E-Value	Type
low complexity region	21	74	N/A	INTRINSIC
RRM	99	174	5.98e-13	SMART
ZnF_RBZ	183	207	1.53e-6	SMART
RRM	232	311	9.5e-7	SMART
low complexity region	329	355	N/A	INTRINSIC
low complexity region	362	385	N/A	INTRINSIC
low complexity region	393	410	N/A	INTRINSIC
low complexity region	425	446	N/A	INTRINSIC
Blast:RRM_2	483	506	1e-5	BLAST
low complexity region	520	536	N/A	INTRINSIC
low complexity region	569	581	N/A	INTRINSIC
low complexity region	627	641	N/A	INTRINSIC
ZnF_C2H2	647	672	5.2e0	SMART
coiled coil region	673	707	N/A	INTRINSIC
G_patch	741	787	1.85e-21	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000183307

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000194682

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000194801

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000182792

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000182836

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000182856

Predicted Effect

probably benign
Transcript: ENSMUST00000192130

SMART Domains

Protein: ENSMUSP00000142194
Gene: ENSMUSG00000032580

Domain	Start	End	E-Value	Type
low complexity region	21	74	N/A	INTRINSIC
SCOP:d1h6kx_	96	138	6e-3	SMART
Blast:RRM	99	136	3e-19	BLAST

Predicted Effect

probably benign
Transcript: ENSMUST00000194400

Predicted Effect

probably benign
Transcript: ENSMUST00000193342

Meta Mutation Damage Score

0.1407

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.1%
20x: 94.9%

Validation Efficiency

100% (90/90)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is a candidate tumor suppressor gene which encodes a nuclear RNA binding protein that is a component of the spliceosome A complex. The encoded protein plays a role in the induction of cell cycle arrest and apoptosis through pre-mRNA splicing of multiple target genes including the tumor suppressor protein p53. This gene is located within the tumor suppressor region 3p21.3, and may play a role in the inhibition of tumor transformation and progression of several malignancies including lung cancer. [provided by RefSeq, Oct 2011]
PHENOTYPE: Mice homozygous for an ENU-induced allele exhibit male infertility with azoospermia, male germ cell apoptosis, round spermatid arrest and spermatid differentiation arrest. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 77 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abhd2	T	C	7: 78,975,235 (GRCm39)	Y142H	probably damaging	Het
Abra	C	T	15: 41,732,620 (GRCm39)	D149N	probably benign	Het
Acin1	A	T	14: 54,890,900 (GRCm39)		probably benign	Het
Adap2	T	A	11: 80,064,899 (GRCm39)		probably null	Het
Afdn	A	G	17: 14,109,082 (GRCm39)	E1535G	probably damaging	Het
Ajm1	G	A	2: 25,468,412 (GRCm39)	P500S	probably damaging	Het
Ak9	A	G	10: 41,282,887 (GRCm39)	N1218D	possibly damaging	Het
Angptl1	G	A	1: 156,672,494 (GRCm39)	V107M	probably damaging	Het
Arhgap26	G	A	18: 39,032,894 (GRCm39)		probably benign	Het
Cage1	A	C	13: 38,209,477 (GRCm39)	S61A	possibly damaging	Het
Cdadc1	T	C	14: 59,824,004 (GRCm39)	T163A	probably benign	Het
Celsr2	A	T	3: 108,302,532 (GRCm39)	V2568D	possibly damaging	Het
Cep44	G	A	8: 56,995,951 (GRCm39)	T166M	probably damaging	Het
Cnksr3	T	C	10: 7,076,182 (GRCm39)	K187E	possibly damaging	Het
Cyp20a1	A	G	1: 60,415,258 (GRCm39)	T295A	probably benign	Het
Dus2	T	A	8: 106,757,074 (GRCm39)	M88K	probably damaging	Het
E330034G19Rik	A	T	14: 24,346,070 (GRCm39)		probably benign	Het
Ecrg4	G	A	1: 43,776,412 (GRCm39)		probably null	Het
Efna5	T	C	17: 62,958,040 (GRCm39)	D72G	probably benign	Het
Epb41l2	T	C	10: 25,378,038 (GRCm39)		probably null	Het
Espn	A	G	4: 152,215,709 (GRCm39)	S408P	probably damaging	Het
Evi5l	T	C	8: 4,252,909 (GRCm39)		probably benign	Het
F830016B08Rik	G	A	18: 60,433,939 (GRCm39)	V341I	probably benign	Het
Flii	A	G	11: 60,606,937 (GRCm39)	L1013P	possibly damaging	Het
Fndc10	G	A	4: 155,779,264 (GRCm39)	V103M	probably damaging	Het
Frem3	T	A	8: 81,395,820 (GRCm39)		probably null	Het
Gltp	C	T	5: 114,812,188 (GRCm39)	R106Q	probably damaging	Het
Gtf3c3	A	G	1: 54,458,575 (GRCm39)	Y449H	probably damaging	Het
H1f9	G	A	11: 94,858,986 (GRCm39)	V94M	probably damaging	Het
Hmga1b	T	C	11: 120,653,866 (GRCm39)	V51A	probably damaging	Het
Hsph1	A	G	5: 149,542,308 (GRCm39)	V705A	probably benign	Het
Igkv13-84	T	C	6: 68,916,783 (GRCm39)	S27P	possibly damaging	Het
Il15ra	A	G	2: 11,723,140 (GRCm39)	N55D	possibly damaging	Het
Kctd19	T	G	8: 106,123,103 (GRCm39)	N104H	probably damaging	Het
Kif27	T	G	13: 58,478,827 (GRCm39)	D572A	probably benign	Het
Larp1b	G	A	3: 40,918,424 (GRCm39)	G22R	possibly damaging	Het
Lcn2	A	T	2: 32,274,655 (GRCm39)		probably benign	Het
Lmtk2	T	A	5: 144,111,752 (GRCm39)	I824N	probably benign	Het
Ltbp2	A	G	12: 84,856,122 (GRCm39)	I707T	probably damaging	Het
Macf1	A	G	4: 123,266,141 (GRCm39)		probably null	Het
Magel2	A	T	7: 62,027,486 (GRCm39)	H130L	unknown	Het
Mcoln1	A	G	8: 3,555,923 (GRCm39)	I73V	probably damaging	Het
Mplkipl1	C	T	19: 61,164,364 (GRCm39)	G24R	unknown	Het
Mycbp2	G	T	14: 103,457,415 (GRCm39)	T1627K	probably benign	Het
Myh8	A	G	11: 67,177,084 (GRCm39)	E412G	probably damaging	Het
Myo9a	T	A	9: 59,778,355 (GRCm39)	D1370E	probably benign	Het
Ndufaf5	A	G	2: 140,025,845 (GRCm39)	T135A	probably benign	Het
Neb	G	A	2: 52,161,051 (GRCm39)	Q2207*	probably null	Het
Nek3	T	C	8: 22,647,055 (GRCm39)	Y160C	probably damaging	Het
Or2y6	G	C	11: 52,104,706 (GRCm39)	L37V	probably benign	Het
Or5k8	A	T	16: 58,644,469 (GRCm39)	I201N	possibly damaging	Het
Osbpl8	A	G	10: 111,105,279 (GRCm39)	I245V	probably benign	Het
Pcdh9	T	C	14: 94,125,079 (GRCm39)	I241V	probably benign	Het
Pcdhb12	A	G	18: 37,570,213 (GRCm39)	Q453R	probably benign	Het
Pcdhb2	A	G	18: 37,428,980 (GRCm39)	T318A	probably benign	Het
Prlr	T	A	15: 10,319,462 (GRCm39)		probably benign	Het
Ptprz1	C	T	6: 23,001,453 (GRCm39)	A1181V	possibly damaging	Het
Racgap1	C	A	15: 99,524,087 (GRCm39)	S440I	probably benign	Het
Rap1gap2	A	G	11: 74,326,525 (GRCm39)		probably null	Het
Rexo5	T	G	7: 119,418,722 (GRCm39)	I254R	probably benign	Het
Robo2	A	T	16: 73,782,821 (GRCm39)	S316T	probably benign	Het
Satb2	A	T	1: 56,884,778 (GRCm39)	V382E	probably damaging	Het
Scg2	C	T	1: 79,414,381 (GRCm39)	R114Q	probably benign	Het
Scube2	T	C	7: 109,399,857 (GRCm39)	D893G	possibly damaging	Het
Snrpn	T	C	7: 59,637,274 (GRCm39)	D14G	possibly damaging	Het
Spag17	A	G	3: 100,010,559 (GRCm39)	T2018A	probably benign	Het
Spata9	T	G	13: 76,116,001 (GRCm39)	F17V	possibly damaging	Het
Supt6	A	G	11: 78,103,572 (GRCm39)	Y1378H	possibly damaging	Het
Thsd7b	T	C	1: 129,358,652 (GRCm39)	S29P	possibly damaging	Het
Tmem59	A	T	4: 107,047,915 (GRCm39)		probably benign	Het
Tmem87a	A	G	2: 120,227,905 (GRCm39)	S81P	probably benign	Het
Togaram1	A	T	12: 65,029,224 (GRCm39)	E882D	possibly damaging	Het
Trbj2-4	T	A	6: 41,520,308 (GRCm39)		probably benign	Het
Trim42	T	A	9: 97,245,201 (GRCm39)	Y533F	probably benign	Het
Tssk5	C	T	15: 76,256,668 (GRCm39)	R280Q	probably benign	Het
Vmn1r82	A	G	7: 12,039,263 (GRCm39)	T179A	possibly damaging	Het
Yipf7	T	A	5: 69,676,704 (GRCm39)	Q145L	possibly damaging	Het

Other mutations in Rbm5

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02041:Rbm5	APN	9	107,633,045 (GRCm39)	unclassified	probably benign
IGL02319:Rbm5	APN	9	107,621,064 (GRCm39)	nonsense	probably null
IGL02567:Rbm5	APN	9	107,621,473 (GRCm39)	missense	probably damaging	1.00
IGL02868:Rbm5	APN	9	107,626,899 (GRCm39)	splice site	probably benign
IGL02943:Rbm5	APN	9	107,621,542 (GRCm39)	missense	probably damaging	1.00
IGL02959:Rbm5	APN	9	107,631,384 (GRCm39)	unclassified	probably benign
IGL03029:Rbm5	APN	9	107,631,652 (GRCm39)	missense	possibly damaging	0.46
PIT4403001:Rbm5	UTSW	9	107,637,535 (GRCm39)	missense	probably damaging	1.00
R0001:Rbm5	UTSW	9	107,619,623 (GRCm39)	missense	probably damaging	1.00
R0242:Rbm5	UTSW	9	107,628,907 (GRCm39)	splice site	probably benign
R1170:Rbm5	UTSW	9	107,619,696 (GRCm39)	missense	probably damaging	0.99
R1239:Rbm5	UTSW	9	107,630,165 (GRCm39)	unclassified	probably benign
R1297:Rbm5	UTSW	9	107,621,441 (GRCm39)	missense	probably damaging	1.00
R1719:Rbm5	UTSW	9	107,621,112 (GRCm39)	critical splice acceptor site	probably null
R1764:Rbm5	UTSW	9	107,644,763 (GRCm39)	nonsense	probably null
R1826:Rbm5	UTSW	9	107,619,613 (GRCm39)	missense	probably damaging	0.98
R1863:Rbm5	UTSW	9	107,627,718 (GRCm39)	missense	possibly damaging	0.70
R4112:Rbm5	UTSW	9	107,642,796 (GRCm39)	missense	probably damaging	1.00
R4207:Rbm5	UTSW	9	107,627,682 (GRCm39)	missense	probably benign
R4343:Rbm5	UTSW	9	107,629,395 (GRCm39)	missense	probably damaging	1.00
R4441:Rbm5	UTSW	9	107,626,887 (GRCm39)	intron	probably benign
R4767:Rbm5	UTSW	9	107,622,412 (GRCm39)	missense	probably damaging	1.00
R5090:Rbm5	UTSW	9	107,637,511 (GRCm39)	splice site	probably benign
R5404:Rbm5	UTSW	9	107,642,752 (GRCm39)	missense	probably damaging	1.00
R5876:Rbm5	UTSW	9	107,637,525 (GRCm39)	missense	probably damaging	1.00
R5959:Rbm5	UTSW	9	107,629,339 (GRCm39)	missense	probably benign	0.02
R5983:Rbm5	UTSW	9	107,622,141 (GRCm39)	missense	probably damaging	1.00
R5984:Rbm5	UTSW	9	107,622,141 (GRCm39)	missense	probably damaging	1.00
R7436:Rbm5	UTSW	9	107,627,593 (GRCm39)	splice site	probably null
R7447:Rbm5	UTSW	9	107,623,378 (GRCm39)	missense	probably damaging	1.00
R7867:Rbm5	UTSW	9	107,628,930 (GRCm39)	missense	probably benign	0.02
R9377:Rbm5	UTSW	9	107,627,252 (GRCm39)	missense	probably benign	0.07
R9602:Rbm5	UTSW	9	107,629,152 (GRCm39)	missense	probably benign
R9694:Rbm5	UTSW	9	107,622,152 (GRCm39)	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- GGGGAACACAACGAACTCTG -3'
(R):5'- GTTAAAAGTTGACCTCCCAGCTC -3'

Sequencing Primer
(F):5'- TCTGAAAGACCAATGGAGACC -3'
(R):5'- ATGAGCATCCACCACTTTGG -3'

Posted On

2015-09-25