Mutagenetix > Incidental Mutation

Incidental Mutation 'R1863:Rbm5'

204125

Institutional Source

Beutler Lab

Gene Symbol

Rbm5

Ensembl Gene

ENSMUSG00000032580

Gene Name

RNA binding motif protein 5

Synonyms

D030069N10Rik

MMRRC Submission

039886-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.923) question?

Stock #

R1863 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

107617694-107648228 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 107627718 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Isoleucine at position 408 (V408I)

Ref Sequence

ENSEMBL: ENSMUSP00000138379 (fasta)

Gene Model

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

AlphaFold

Q91YE7

Predicted Effect

possibly damaging
Transcript: ENSMUST00000035199
AA Change: V408I

PolyPhen 2 Score 0.705 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000035199
Gene: ENSMUSG00000032580
AA Change: V408I

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: ENSMUST00000182304

SMART Domains

Protein: ENSMUSP00000138380
Gene: ENSMUSG00000032580

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

possibly damaging
Transcript: ENSMUST00000182659
AA Change: V408I

PolyPhen 2 Score 0.705 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000138379
Gene: ENSMUSG00000032580
AA Change: V408I

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

unknown
Transcript: ENSMUST00000194400
AA Change: V46I

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000182792

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000182836

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000182856

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000194801

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000183307

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000194682

Predicted Effect

probably benign
Transcript: ENSMUST00000193342

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

Coding Region Coverage

1x: 97.5%
3x: 96.9%
10x: 95.0%
20x: 90.8%

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: 85 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A2ml1	A	T	6: 128,527,746 (GRCm39)	S1015T	probably damaging	Het
Adamts10	T	A	17: 33,770,406 (GRCm39)		probably null	Het
Adgrv1	G	A	13: 81,711,685 (GRCm39)	T1097I	probably damaging	Het
Apeh	T	C	9: 107,969,302 (GRCm39)	Y274C	possibly damaging	Het
Apobec3	A	G	15: 79,782,068 (GRCm39)	D26G	possibly damaging	Het
Arg2	C	T	12: 79,196,794 (GRCm39)	Q172*	probably null	Het
Asb18	C	T	1: 89,942,104 (GRCm39)	V66I	probably benign	Het
Cacna1i	G	A	15: 80,243,132 (GRCm39)	G430S	probably damaging	Het
Cadps	A	G	14: 12,449,802 (GRCm38)	S1136P	possibly damaging	Het
Cadps	A	G	14: 12,505,796 (GRCm38)	V758A	probably benign	Het
Calhm3	A	G	19: 47,140,539 (GRCm39)	W185R	probably damaging	Het
Car5b	T	C	X: 162,774,369 (GRCm39)	D146G	probably damaging	Het
Card10	G	A	15: 78,664,714 (GRCm39)	R747W	probably damaging	Het
Cd300lg	T	G	11: 101,932,430 (GRCm39)	V5G	probably damaging	Het
Cd46	C	A	1: 194,765,931 (GRCm39)	G145C	probably damaging	Het
Chit1	T	C	1: 134,078,988 (GRCm39)	S433P	probably damaging	Het
Cntrl	G	A	2: 35,008,131 (GRCm39)	E182K	possibly damaging	Het
Col6a5	T	A	9: 105,817,400 (GRCm39)	M304L	unknown	Het
Cplane1	A	G	15: 8,258,077 (GRCm39)	I2108V	probably benign	Het
Cpxm2	C	T	7: 131,745,392 (GRCm39)		probably null	Het
Dbf4	G	A	5: 8,447,375 (GRCm39)	Q612*	probably null	Het
Dnah11	G	C	12: 118,027,587 (GRCm39)	Q1835E	possibly damaging	Het
Ehbp1l1	A	T	19: 5,767,882 (GRCm39)	N1140K	probably benign	Het
Eps8l1	C	A	7: 4,468,359 (GRCm39)		probably benign	Het
Fbxl21	A	T	13: 56,674,876 (GRCm39)	I76L	probably benign	Het
Gcnt2	A	T	13: 41,014,577 (GRCm39)	K249N	possibly damaging	Het
Gm5819	A	G	18: 8,694,179 (GRCm39)	T35A	probably benign	Het
Gm8180	T	C	14: 44,021,139 (GRCm39)	E23G	probably benign	Het
Gorab	A	G	1: 163,231,131 (GRCm39)	F8L	probably damaging	Het
Hlf	A	G	11: 90,231,652 (GRCm39)	L274S	probably damaging	Het
Il15ra	T	A	2: 11,728,247 (GRCm39)	S137T	possibly damaging	Het
Krt78	A	T	15: 101,855,004 (GRCm39)	C936S	possibly damaging	Het
Lamb2	T	C	9: 108,358,583 (GRCm39)	S207P	probably benign	Het
Lce1a1	T	C	3: 92,554,118 (GRCm39)	S119G	unknown	Het
Lipo3	A	G	19: 33,762,092 (GRCm39)	F135S	probably damaging	Het
Lrp4	T	A	2: 91,328,708 (GRCm39)	L1536Q	probably benign	Het
Lrrc25	T	C	8: 71,070,596 (GRCm39)	S126P	possibly damaging	Het
Mbd3l2	T	C	9: 18,356,217 (GRCm39)	S181P	possibly damaging	Het
Msantd5f6	A	T	4: 73,320,037 (GRCm39)	Y247*	probably null	Het
Mss51	C	T	14: 20,534,936 (GRCm39)	R278H	probably damaging	Het
Myom3	G	A	4: 135,505,348 (GRCm39)	M412I	probably benign	Het
Naa25	T	C	5: 121,573,611 (GRCm39)	V780A	probably benign	Het
Naip6	A	T	13: 100,437,067 (GRCm39)	F485L	probably benign	Het
Notch1	T	C	2: 26,359,962 (GRCm39)	Y1251C	probably damaging	Het
Npas3	A	G	12: 54,115,609 (GRCm39)	N826D	probably damaging	Het
Nup155	A	T	15: 8,187,244 (GRCm39)	H1391L	probably damaging	Het
Or2t47	T	C	11: 58,442,849 (GRCm39)	Y72C	probably benign	Het
Or4a74	A	T	2: 89,440,053 (GRCm39)	L131*	probably null	Het
Or4c35	A	T	2: 89,808,754 (GRCm39)	I211F	probably benign	Het
Or5p57	A	C	7: 107,665,932 (GRCm39)	Y24*	probably null	Het
Or6c66	T	C	10: 129,461,217 (GRCm39)	T238A	probably damaging	Het
Or8c8	T	G	9: 38,165,016 (GRCm39)	M101R	probably damaging	Het
Or8s16	G	T	15: 98,211,372 (GRCm39)	Q20K	probably benign	Het
Osbpl6	G	A	2: 76,415,402 (GRCm39)	R588H	probably damaging	Het
Pcdhb17	A	T	18: 37,619,164 (GRCm39)	D318V	probably benign	Het
Pcnx2	T	A	8: 126,545,525 (GRCm39)	E1162V	probably damaging	Het
Pde2a	G	A	7: 101,160,361 (GRCm39)	R845H	probably damaging	Het
Pkhd1	G	T	1: 20,621,244 (GRCm39)	R805S	probably benign	Het
Ppl	T	C	16: 4,905,844 (GRCm39)	K1484E	possibly damaging	Het
Pramel7	T	C	2: 87,321,675 (GRCm39)	E120G	probably benign	Het
Prg4	T	A	1: 150,336,420 (GRCm39)	D60V	probably damaging	Het
Prpf6	T	A	2: 181,249,967 (GRCm39)	D42E	possibly damaging	Het
Rsrp1	G	T	4: 134,651,388 (GRCm39)	D51Y	unknown	Het
Sec22a	A	G	16: 35,168,088 (GRCm39)	M141T	probably damaging	Het
Spryd3	A	G	15: 102,026,094 (GRCm39)	S417P	probably benign	Het
Sptbn2	A	G	19: 4,782,713 (GRCm39)	M550V	possibly damaging	Het
Sugt1	C	T	14: 79,846,434 (GRCm39)	T157I	probably damaging	Het
Syne4	T	C	7: 30,016,308 (GRCm39)	V168A	probably benign	Het
Tas2r122	A	T	6: 132,688,065 (GRCm39)	L276*	probably null	Het
Tbc1d14	G	A	5: 36,665,037 (GRCm39)	S231F	probably damaging	Het
Tenm3	T	A	8: 48,729,381 (GRCm39)	I1526F	probably benign	Het
Tgm2	C	T	2: 157,966,139 (GRCm39)	C505Y	probably damaging	Het
Thop1	T	C	10: 80,909,151 (GRCm39)	Y61H	probably damaging	Het
Ticam1	G	A	17: 56,578,436 (GRCm39)	H220Y	probably damaging	Het
Tle6	T	C	10: 81,427,755 (GRCm39)	D500G	possibly damaging	Het
Tm6sf2	T	A	8: 70,532,375 (GRCm39)	L345Q	probably damaging	Het
Tnxb	T	C	17: 34,889,848 (GRCm39)	C114R	probably damaging	Het
Topors	G	T	4: 40,262,149 (GRCm39)	C378*	probably null	Het
Ttc6	G	A	12: 57,760,881 (GRCm39)	G1544R	probably benign	Het
Vmn2r4	A	T	3: 64,314,410 (GRCm39)	N190K	probably benign	Het
Wdr70	C	A	15: 7,950,054 (GRCm39)	V447F	probably benign	Het
Xpa	A	G	4: 46,155,730 (GRCm39)		probably benign	Het
Xrcc1	T	C	7: 24,270,000 (GRCm39)	S474P	possibly damaging	Het
Zfp658	T	G	7: 43,223,323 (GRCm39)	F533V	possibly damaging	Het
Zfp799	G	A	17: 33,038,374 (GRCm39)	H631Y	probably 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
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
R9694:Rbm5	UTSW	9	107,622,152 (GRCm39)	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- CAACTTTCTATAAGTCAAGCGGAAG -3'
(R):5'- AGTTTGAGGCCACCATTTAAAC -3'

Sequencing Primer
(F):5'- ACAAAGTATAACTATGACCTGCTTG -3'
(R):5'- TGAGGCCACCATTTAAACTAAATAAC -3'

Posted On

2014-06-23