Mutagenetix > Incidental Mutation

Incidental Mutation 'R9694:Rbm5'

735959

Institutional Source

Beutler Lab

Gene Symbol

Rbm5

Ensembl Gene

ENSMUSG00000032580

Gene Name

RNA binding motif protein 5

Synonyms

D030069N10Rik

MMRRC Submission

Accession Numbers

Essential gene?

Probably essential (E-score: 0.928) question?

Stock #

R9694 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

107617694-107648228 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 107622152 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 607 (D607E)

Ref Sequence

ENSEMBL: ENSMUSP00000138379 (fasta)

Gene Model

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

AlphaFold

Q91YE7

Predicted Effect

probably benign
Transcript: ENSMUST00000035199
AA Change: D606E

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000035199
Gene: ENSMUSG00000032580
AA Change: D606E

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

probably benign
Transcript: ENSMUST00000182026

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

probably benign
Transcript: ENSMUST00000182659
AA Change: D607E

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000138379
Gene: ENSMUSG00000032580
AA Change: D607E

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

probably benign
Transcript: ENSMUST00000194400

Coding Region Coverage

1x: 99.8%
3x: 99.7%
10x: 99.3%
20x: 98.7%

Validation Efficiency

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
Abcb1b	T	A	5: 8,899,573 (GRCm39)	Y948N	probably damaging	Het
Adamts2	A	G	11: 50,558,972 (GRCm39)	D229G	probably benign	Het
Adamts4	T	C	1: 171,081,530 (GRCm39)	S395P	probably benign	Het
Adcy1	T	C	11: 7,094,774 (GRCm39)	Y567H	probably damaging	Het
Agap3	A	G	5: 24,682,139 (GRCm39)	N212D	probably benign	Het
Atp2a2	A	G	5: 122,597,708 (GRCm39)	F775S	probably damaging	Het
Baz1b	A	T	5: 135,273,094 (GRCm39)	Q1406L	probably benign	Het
C030006K11Rik	A	T	15: 76,607,928 (GRCm39)	V30D	possibly damaging	Het
Cep170b	T	A	12: 112,701,993 (GRCm39)	V262E	probably damaging	Het
Cgnl1	C	T	9: 71,632,803 (GRCm39)	G183R	probably benign	Het
Chd8	A	G	14: 52,441,341 (GRCm39)	I2257T	possibly damaging	Het
Chrna7	A	G	7: 62,754,809 (GRCm39)	I266T	probably damaging	Het
Cyp3a25	A	T	5: 145,923,685 (GRCm39)	Y319*	probably null	Het
Dcdc2a	A	T	13: 25,286,340 (GRCm39)	I125F	probably benign	Het
Dcdc2c	A	T	12: 28,585,553 (GRCm39)	I80N		Het
Dmtn	T	C	14: 70,852,732 (GRCm39)		probably null	Het
Dock2	T	C	11: 34,218,054 (GRCm39)	N1172S	probably benign	Het
Dock9	A	G	14: 121,818,791 (GRCm39)	S1564P	probably damaging	Het
Ecel1	T	C	1: 87,080,853 (GRCm39)	I350V	possibly damaging	Het
Eif4enif1	C	T	11: 3,170,384 (GRCm39)	L146F	probably damaging	Het
Ergic1	T	G	17: 26,843,585 (GRCm39)	D59E	probably benign	Het
F2rl2	A	T	13: 95,838,050 (GRCm39)	D365V	possibly damaging	Het
Fbxl16	C	T	17: 26,036,813 (GRCm39)	Q265*	probably null	Het
Fbxw26	T	C	9: 109,575,135 (GRCm39)		probably benign	Het
Fras1	A	T	5: 96,929,545 (GRCm39)	Y3983F	probably benign	Het
G6pd2	T	A	5: 61,966,460 (GRCm39)	D78E	probably benign	Het
Gas2l2	A	C	11: 83,314,170 (GRCm39)	S381A	possibly damaging	Het
Gm57858	A	G	3: 36,073,092 (GRCm39)	S397P	possibly damaging	Het
Grk2	G	A	19: 4,338,511 (GRCm39)	R474C	probably damaging	Het
Gxylt2	T	A	6: 100,710,174 (GRCm39)	V105E	probably benign	Het
Hexd	T	C	11: 121,107,813 (GRCm39)	V181A	probably damaging	Het
Ift70a2	T	C	2: 75,807,691 (GRCm39)	T274A	probably benign	Het
Ik	T	A	18: 36,877,840 (GRCm39)	D5E	probably benign	Het
Ilkap	A	G	1: 91,303,973 (GRCm39)	C163R		Het
Itpr3	C	T	17: 27,334,927 (GRCm39)	T2147I	probably damaging	Het
Kif1a	A	T	1: 92,950,173 (GRCm39)	V1418E	probably benign	Het
Kif26b	T	C	1: 178,743,815 (GRCm39)	C1304R	probably benign	Het
Lmna	CAGCACGGTGCGTGAGC	CAGC	3: 88,389,857 (GRCm39)		probably null	Het
Lvrn	A	T	18: 47,033,609 (GRCm39)	D940V	probably damaging	Het
Mill1	G	A	7: 17,997,027 (GRCm39)	R206H	probably benign	Het
Mrgpra1	A	T	7: 46,985,268 (GRCm39)	L137Q	probably damaging	Het
Npc2	C	A	12: 84,807,638 (GRCm39)	L73F	probably benign	Het
Or11g26	A	G	14: 50,752,669 (GRCm39)	T3A	probably benign	Het
Or52i2	A	T	7: 102,320,011 (GRCm39)	I295F	possibly damaging	Het
Or5al1	T	C	2: 85,990,681 (GRCm39)	E11G	probably benign	Het
Or5b97	A	T	19: 12,879,021 (GRCm39)	V41E	probably damaging	Het
Or5j3	T	C	2: 86,128,718 (GRCm39)	I186T	probably benign	Het
Osbpl1a	T	C	18: 12,952,565 (GRCm39)	H533R	probably benign	Het
Pax7	G	A	4: 139,556,819 (GRCm39)	T147M	probably benign	Het
Pdik1l	A	T	4: 134,006,711 (GRCm39)	S143T	unknown	Het
Prkg1	T	G	19: 30,764,371 (GRCm39)	T255P	possibly damaging	Het
Prmt2	A	T	10: 76,061,213 (GRCm39)	I91N	probably damaging	Het
Ptprm	A	G	17: 67,116,484 (GRCm39)	Y932H	probably damaging	Het
Ptprz1	A	T	6: 22,959,694 (GRCm39)	I64F	probably damaging	Het
Qrich2	T	C	11: 116,337,946 (GRCm39)	K154R	probably damaging	Het
Rab8b	T	C	9: 66,826,824 (GRCm39)	D31G	probably benign	Het
Radil	A	G	5: 142,473,378 (GRCm39)	S768P	probably damaging	Het
Reep6	T	A	10: 80,169,393 (GRCm39)	V131E	probably damaging	Het
Rrbp1	T	A	2: 143,832,099 (GRCm39)	I23F	probably damaging	Het
Rubcn	A	T	16: 32,663,481 (GRCm39)	V385D	probably benign	Het
Sall2	C	T	14: 52,552,124 (GRCm39)	G357D	possibly damaging	Het
Slc12a6	T	A	2: 112,174,881 (GRCm39)	L547H	probably damaging	Het
Slc16a6	T	C	11: 109,354,322 (GRCm39)	T100A	probably benign	Het
Sptbn2	T	C	19: 4,800,535 (GRCm39)	L2250P	probably damaging	Het
Stab1	C	T	14: 30,876,901 (GRCm39)	A808T	probably benign	Het
Stag1	A	G	9: 100,810,151 (GRCm39)	T785A	probably benign	Het
Stambpl1	T	G	19: 34,211,535 (GRCm39)	S199A	probably benign	Het
Styxl2	A	T	1: 165,928,654 (GRCm39)	S319R	probably damaging	Het
Supt20	C	T	3: 54,623,015 (GRCm39)	S496L	probably benign	Het
Tanc1	T	C	2: 59,626,196 (GRCm39)	F518L	probably damaging	Het
Tdpoz3	T	A	3: 93,734,156 (GRCm39)	V277D	probably benign	Het
Unc45a	A	C	7: 79,975,403 (GRCm39)	Y934D	probably damaging	Het
Vmn1r192	G	A	13: 22,372,119 (GRCm39)	P34S	probably benign	Het
Wipf3	T	C	6: 54,466,004 (GRCm39)	S421P	possibly damaging	Het
Zfp296	A	G	7: 19,314,227 (GRCm39)	K361E	possibly damaging	Het
Zfp882	T	A	8: 72,667,915 (GRCm39)	N247K	probably benign	Het
Zfpm2	A	G	15: 40,965,710 (GRCm39)	T732A	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
R4621:Rbm5	UTSW	9	107,631,345 (GRCm39)	missense	probably damaging	1.00
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

Predicted Primers

PCR Primer
(F):5'- GGTCCATCTCACCTGATCTCAG -3'
(R):5'- GCCAAAGACATGGAACGCTG -3'

Sequencing Primer
(F):5'- TGATCTCAGGCACAGAAAACAAAG -3'
(R):5'- GCTTTCAACCTGTCAATTCATTGAG -3'

Posted On

2022-11-14