Mutagenetix > Incidental Mutation

Incidental Mutation 'R1826:Rbm5'

206801

Institutional Source

Beutler Lab

Gene Symbol

Rbm5

Ensembl Gene

ENSMUSG00000032580

Gene Name

RNA binding motif protein 5

Synonyms

D030069N10Rik

MMRRC Submission

039853-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.928) question?

Stock #

R1826 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

107617694-107648228 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 107619613 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Leucine at position 766 (Q766L)

Ref Sequence

ENSEMBL: ENSMUSP00000035199 (fasta)

Gene Model

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

AlphaFold

Q91YE7

PDB Structure

MHC CLASS I NATURAL MUTANT H-2KBM8 HEAVY CHAIN COMPLEXED WITH BETA-2 MICROGLOBULIN AND PBM8 PEPTIDE [X-RAY DIFFRACTION]
crystal structure of BM3.3 ScFV TCR in complex with PBM8-H-2KBM8 MHC class I molecule [X-RAY DIFFRACTION]

Predicted Effect

probably damaging
Transcript: ENSMUST00000035199
AA Change: Q766L

PolyPhen 2 Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000035199
Gene: ENSMUSG00000032580
AA Change: Q766L

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: ENSMUST00000182026
AA Change: Q128L

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000182215

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

possibly damaging
Transcript: ENSMUST00000182659
AA Change: Q767L

PolyPhen 2 Score 0.942 (Sensitivity: 0.80; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000138379
Gene: ENSMUSG00000032580
AA Change: Q767L

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: ENSMUST00000182792

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000194801

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000183307

Predicted Effect

probably benign
Transcript: ENSMUST00000194400

Meta Mutation Damage Score

0.3089

Coding Region Coverage

1x: 97.5%
3x: 96.8%
10x: 95.1%
20x: 92.0%

Validation Efficiency

95% (116/122)

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: 112 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc2	T	C	19: 43,810,453 (GRCm39)	S917P	probably benign	Het
Acsbg1	C	T	9: 54,529,840 (GRCm39)	V256M	possibly damaging	Het
Adam34	T	A	8: 44,104,379 (GRCm39)	D422V	probably damaging	Het
Adam6a	T	A	12: 113,509,742 (GRCm39)	V705E	possibly damaging	Het
Adamts12	C	A	15: 11,071,606 (GRCm39)	P50Q	probably benign	Het
Arfgap3	C	T	15: 83,187,303 (GRCm39)		probably null	Het
Aspg	T	A	12: 112,089,852 (GRCm39)	D463E	probably damaging	Het
Atad2b	G	A	12: 5,024,094 (GRCm39)	S73N	probably benign	Het
Atp11a	T	C	8: 12,896,154 (GRCm39)	L788P	probably damaging	Het
B3gnt8	T	C	7: 25,328,188 (GRCm39)	F206S	probably damaging	Het
Baz2b	T	C	2: 59,799,077 (GRCm39)	E349G	probably benign	Het
Bmp2k	A	T	5: 97,209,261 (GRCm39)		probably benign	Het
Camta2	A	G	11: 70,574,134 (GRCm39)	F128L	probably damaging	Het
Ccdc88a	A	T	11: 29,439,637 (GRCm39)	Q30L	possibly damaging	Het
Cdh1	T	C	8: 107,392,898 (GRCm39)	M794T	probably benign	Het
Cdh5	A	G	8: 104,857,723 (GRCm39)	N383S	possibly damaging	Het
Cep85l	T	C	10: 53,224,908 (GRCm39)	D227G	possibly damaging	Het
Clec4e	A	G	6: 123,260,591 (GRCm39)	S156P	probably damaging	Het
Col10a1	G	T	10: 34,270,645 (GRCm39)	G206C	probably damaging	Het
Col4a2	T	C	8: 11,363,509 (GRCm39)		probably null	Het
Copg2	A	G	6: 30,789,777 (GRCm39)	M517T	probably benign	Het
Cyp2f2	T	A	7: 26,831,987 (GRCm39)	L414Q	probably damaging	Het
Dact1	G	A	12: 71,365,118 (GRCm39)	G596D	probably damaging	Het
Dcaf13	T	C	15: 38,982,294 (GRCm39)	C87R	probably damaging	Het
Dchs1	T	G	7: 105,406,834 (GRCm39)	T2224P	probably damaging	Het
Dnah12	A	G	14: 26,432,174 (GRCm39)	M429V	probably benign	Het
Dppa2	G	A	16: 48,137,711 (GRCm39)	R231H	probably damaging	Het
Elavl4	T	C	4: 110,108,489 (GRCm39)	D78G	probably damaging	Het
Enthd1	T	C	15: 80,358,482 (GRCm39)	E346G	probably damaging	Het
Exoc3l	A	T	8: 106,020,250 (GRCm39)	I225N	probably damaging	Het
Fasn	C	T	11: 120,699,325 (GRCm39)		probably benign	Het
Fbxl7	G	A	15: 26,552,851 (GRCm39)	R139C	possibly damaging	Het
Fbxw15	C	A	9: 109,388,782 (GRCm39)		probably null	Het
Flnc	A	G	6: 29,455,184 (GRCm39)	T1971A	probably damaging	Het
Fnip1	T	G	11: 54,356,990 (GRCm39)	V33G	probably damaging	Het
Foxn2	A	G	17: 88,794,233 (GRCm39)	E390G	possibly damaging	Het
Fry	C	T	5: 150,360,174 (GRCm39)	S1940L	possibly damaging	Het
Fzd3	A	T	14: 65,490,555 (GRCm39)	D9E	probably benign	Het
Gabrd	T	C	4: 155,470,943 (GRCm39)	Y255C	probably damaging	Het
Garem1	A	T	18: 21,262,509 (GRCm39)	F768L	probably benign	Het
Gas2	T	A	7: 51,593,421 (GRCm39)	L167Q	probably damaging	Het
Gm16391	A	G	17: 76,591,418 (GRCm39)		noncoding transcript	Het
Gm1979	A	T	5: 26,206,240 (GRCm39)	N113K	probably damaging	Het
Gpr83	G	T	9: 14,779,629 (GRCm39)	C269F	possibly damaging	Het
Hdac4	T	A	1: 91,912,421 (GRCm39)	N352Y	probably damaging	Het
Hdac9	A	G	12: 34,479,491 (GRCm39)		probably benign	Het
Hhipl2	G	A	1: 183,217,253 (GRCm39)	S673N	probably benign	Het
Iffo2	T	A	4: 139,341,376 (GRCm39)	S417T	probably benign	Het
Itgb5	G	T	16: 33,685,930 (GRCm39)	R90L	possibly damaging	Het
Jade1	T	G	3: 41,567,648 (GRCm39)	L572W	probably damaging	Het
Kcnh1	T	A	1: 192,095,376 (GRCm39)	M478K	possibly damaging	Het
Kcnma1	C	A	14: 23,380,997 (GRCm39)	D903Y	probably damaging	Het
Kcnq4	T	A	4: 120,561,701 (GRCm39)	H456L	probably benign	Het
Kif9	C	A	9: 110,346,701 (GRCm39)	T613K	probably benign	Het
Krt36	T	G	11: 99,993,856 (GRCm39)		probably benign	Het
Kyat3	A	T	3: 142,428,940 (GRCm39)	D89V	possibly damaging	Het
Lnpep	A	T	17: 17,783,098 (GRCm39)	F568I	probably damaging	Het
Lpl	T	C	8: 69,354,943 (GRCm39)	F444L	possibly damaging	Het
Lrp1	A	T	10: 127,389,576 (GRCm39)	V3153E	probably damaging	Het
Lrrn1	A	T	6: 107,544,529 (GRCm39)	N109I	probably benign	Het
Ltn1	A	G	16: 87,212,504 (GRCm39)	Y686H	probably damaging	Het
Mcoln2	A	C	3: 145,881,227 (GRCm39)	D166A	possibly damaging	Het
Ms4a6b	A	T	19: 11,501,298 (GRCm39)	I103F	probably damaging	Het
Mtmr10	T	G	7: 63,987,214 (GRCm39)	S585A	probably benign	Het
Mx1	T	C	16: 97,256,837 (GRCm39)	N114S	possibly damaging	Het
Mysm1	A	T	4: 94,858,923 (GRCm39)	N75K	probably benign	Het
Nkx1-1	A	G	5: 33,591,277 (GRCm39)	V15A	unknown	Het
Nlrp1a	G	A	11: 71,013,573 (GRCm39)	T559I	possibly damaging	Het
Nlrp1a	T	A	11: 70,998,806 (GRCm39)		probably benign	Het
Oas1f	A	G	5: 120,993,652 (GRCm39)	K288R	probably benign	Het
Or10q1	T	A	19: 13,726,711 (GRCm39)	D80E	probably benign	Het
Or55b3	A	G	7: 102,126,720 (GRCm39)	L119P	probably damaging	Het
Or9e1	T	A	11: 58,732,257 (GRCm39)	C106S	probably benign	Het
Pcdhb2	T	A	18: 37,429,038 (GRCm39)	V337D	probably damaging	Het
Pcdhb5	C	T	18: 37,454,522 (GRCm39)	R301*	probably null	Het
Phf12	T	C	11: 77,915,780 (GRCm39)		probably benign	Het
Pik3c2a	C	T	7: 115,967,352 (GRCm39)	D862N	probably benign	Het
Pkhd1l1	T	A	15: 44,366,741 (GRCm39)	L740I	possibly damaging	Het
Ppp1r9a	A	T	6: 5,111,060 (GRCm39)		probably benign	Het
Prg4	T	C	1: 150,327,760 (GRCm39)	D820G	probably benign	Het
Prmt9	C	T	8: 78,282,303 (GRCm39)	Q67*	probably null	Het
Prob1	T	C	18: 35,786,628 (GRCm39)	E542G	possibly damaging	Het
Pttg1	A	G	11: 43,311,193 (GRCm39)	V188A	probably damaging	Het
Rassf1	T	A	9: 107,435,392 (GRCm39)	L260H	probably damaging	Het
Rbms3	T	A	9: 116,651,936 (GRCm39)	Y137F	probably damaging	Het
Rccd1	T	C	7: 79,969,966 (GRCm39)		probably benign	Het
Rnf182	G	A	13: 43,822,010 (GRCm39)	W187*	probably null	Het
S100a11	A	T	3: 93,433,428 (GRCm39)	I91F	probably benign	Het
Setd4	T	A	16: 93,388,187 (GRCm39)	K100*	probably null	Het
Simc1	T	A	13: 54,672,452 (GRCm39)	C267S	probably benign	Het
Slc16a1	G	T	3: 104,558,255 (GRCm39)	A91S	probably benign	Het
Slc36a1	A	G	11: 55,111,279 (GRCm39)	N133S	probably benign	Het
Ssxb16	T	A	X: 8,746,944 (GRCm39)	Y133*	probably null	Het
Svil	C	T	18: 5,063,383 (GRCm39)	P885S	probably benign	Het
Svop	A	T	5: 114,198,117 (GRCm39)		probably null	Het
Taar7d	T	C	10: 23,903,474 (GRCm39)	Y119H	probably damaging	Het
Tasor2	T	A	13: 3,631,759 (GRCm39)	N914I	probably damaging	Het
Tgfb3	T	C	12: 86,108,818 (GRCm39)	T304A	probably benign	Het
Tmem94	C	A	11: 115,684,039 (GRCm39)	C786*	probably null	Het
Tnfrsf4	T	A	4: 156,100,736 (GRCm39)		probably null	Het
Tns1	C	A	1: 73,992,793 (GRCm39)	M1I	probably null	Het
Trappc13	C	T	13: 104,306,327 (GRCm39)		probably null	Het
Trim72	T	C	7: 127,607,016 (GRCm39)	F182L	possibly damaging	Het
Ttc6	T	C	12: 57,707,033 (GRCm39)	S647P	probably benign	Het
Tulp1	A	G	17: 28,575,341 (GRCm39)	L400P	possibly damaging	Het
Vegfc	C	T	8: 54,634,347 (GRCm39)	T342M	possibly damaging	Het
Vit	T	A	17: 78,842,105 (GRCm39)	V15E	probably benign	Het
Vps13d	A	T	4: 144,881,573 (GRCm39)	M1334K	probably damaging	Het
Zfp280d	T	C	9: 72,206,062 (GRCm39)	V23A	probably damaging	Het
Zfp608	A	G	18: 55,031,648 (GRCm39)	I764T	probably benign	Het
Zfp94	T	C	7: 24,008,540 (GRCm39)	Y33C	probably damaging	Het
Zfyve26	T	A	12: 79,315,823 (GRCm39)	I1218F	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
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
R9694:Rbm5	UTSW	9	107,622,152 (GRCm39)	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- TCTTTAAACAAGGGCACTAGGC -3'
(R):5'- TTTTCCAGTTCATTAGCTAGGGC -3'

Sequencing Primer
(F):5'- CTCTAGGCAGGGGCATATAAATCTC -3'
(R):5'- CTAGGGCTCTGGCTGTTTTAAGTAAC -3'

Posted On

2014-06-23