Mutagenetix > Incidental Mutation

Incidental Mutation 'R0311:Rbm4'

25241

Institutional Source

Beutler Lab

Gene Symbol

Rbm4

Ensembl Gene

ENSMUSG00000094936

Gene Name

RNA binding motif protein 4

Synonyms

Lark1, Rbm4a

MMRRC Submission

038521-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.523) question?

Stock #

R0311 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

4784293-4793901 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 4787556 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 300 (Y300C)

Ref Sequence

ENSEMBL: ENSMUSP00000137345 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000164209] [ENSMUST00000164376] [ENSMUST00000172000] [ENSMUST00000178353] [ENSMUST00000178615] [ENSMUST00000179189] [ENSMUST00000179909] [ENSMUST00000180248]

AlphaFold

Q8C7Q4

Predicted Effect

probably benign
Transcript: ENSMUST00000164209

SMART Domains

Protein: ENSMUSP00000129745
Gene: ENSMUSG00000094936

Domain	Start	End	E-Value	Type
RRM	3	68	5.4e-20	SMART
RRM	79	143	1.23e-14	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000164376

SMART Domains

Protein: ENSMUSP00000127564
Gene: ENSMUSG00000094936

Domain	Start	End	E-Value	Type
RRM	3	68	5.4e-20	SMART
RRM	79	144	4.77e-21	SMART
ZnF_C2HC	161	172	4.62e0	SMART

Predicted Effect

possibly damaging
Transcript: ENSMUST00000172000
AA Change: Y416C

PolyPhen 2 Score 0.956 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000128810
Gene: ENSMUSG00000096370
AA Change: Y416C

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

SMART Domains

Protein: ENSMUSP00000136599
Gene: ENSMUSG00000096370

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 benign
Transcript: ENSMUST00000178615

SMART Domains

Protein: ENSMUSP00000136254
Gene: ENSMUSG00000094936

Domain	Start	End	E-Value	Type
RRM	3	68	5.4e-20	SMART
RRM	79	143	1.23e-14	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000178727

Predicted Effect

probably benign
Transcript: ENSMUST00000179189

SMART Domains

Protein: ENSMUSP00000137174
Gene: ENSMUSG00000094936

Domain	Start	End	E-Value	Type
RRM	3	68	5.4e-20	SMART
RRM	79	144	4.77e-21	SMART
ZnF_C2HC	161	177	1.75e-5	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000179820

Predicted Effect

unknown
Transcript: ENSMUST00000179909
AA Change: Y275C

SMART Domains

Protein: ENSMUSP00000136623
Gene: ENSMUSG00000096370
AA Change: Y275C

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 damaging
Transcript: ENSMUST00000180248
AA Change: Y300C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000137345
Gene: ENSMUSG00000094936
AA Change: Y300C

Domain	Start	End	E-Value	Type
RRM	3	68	5.4e-20	SMART
RRM	79	144	4.77e-21	SMART
ZnF_C2HC	161	177	1.75e-5	SMART
low complexity region	227	246	N/A	INTRINSIC
low complexity region	283	296	N/A	INTRINSIC

Meta Mutation Damage Score

0.1698

Coding Region Coverage

1x: 98.9%
3x: 97.9%
10x: 95.6%
20x: 91.6%

Validation Efficiency

100% (43/43)

MGI Phenotype

PHENOTYPE: Mice homozygous for a null mutation display reduced postnatal body weight, decreased insulin levels, smaller pancreatic islets and impaired glucose tolerance. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 42 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca15	A	C	7: 120,402,904	M1547L	probably damaging	Het
Abcb4	A	G	5: 8,934,243	K658E	probably benign	Het
Abr	A	G	11: 76,509,127	S15P	possibly damaging	Het
Adgrb2	G	C	4: 130,017,129	A1168P	probably damaging	Het
Adgre4	A	T	17: 55,802,010	E339V	probably benign	Het
Asprv1	T	C	6: 86,628,840	W223R	probably damaging	Het
Ccdc89	A	G	7: 90,426,693	E37G	probably damaging	Het
Cd48	C	A	1: 171,699,580	Y191*	probably null	Het
Chd4	T	C	6: 125,101,665	I257T	probably benign	Het
Clca4b	T	C	3: 144,932,496	M2V	probably benign	Het
Dnah11	A	T	12: 118,127,133	D1025E	probably benign	Het
Erich5	A	G	15: 34,472,939	*363W	probably null	Het
Etl4	A	G	2: 20,807,129	D1341G	probably damaging	Het
Fbxw11	A	G	11: 32,722,083	T184A	probably benign	Het
Fktn	A	G	4: 53,744,620	Q300R	probably benign	Het
G3bp1	T	C	11: 55,498,626	F383L	probably damaging	Het
Gdpd3	G	A	7: 126,767,189	R66Q	possibly damaging	Het
Hexb	A	G	13: 97,183,819		probably benign	Het
Kdm4b	A	G	17: 56,386,200	R346G	probably benign	Het
Mbtd1	T	A	11: 93,921,357		probably null	Het
Med23	T	A	10: 24,897,358	C653S	possibly damaging	Het
Nwd2	A	T	5: 63,804,998	I642L	probably damaging	Het
Olfr1444	A	G	19: 12,861,869	I31M	probably benign	Het
Olfr1448	T	A	19: 12,920,096	Y71F	possibly damaging	Het
Olfr912	T	C	9: 38,539,297	V134A	probably benign	Het
Pbld2	T	C	10: 63,054,507		probably null	Het
Pkd1l3	C	G	8: 109,623,649	D375E	possibly damaging	Het
Pkd1l3	G	A	8: 109,623,663	S380N	probably benign	Het
Plpp2	C	T	10: 79,527,580	R77K	probably damaging	Het
Pym1	G	T	10: 128,765,984	R168L	possibly damaging	Het
Rnf207	A	G	4: 152,315,779	C175R	probably damaging	Het
Sema6a	G	A	18: 47,290,045		probably null	Het
Speg	T	C	1: 75,430,937	V3196A	probably damaging	Het
Syne1	T	A	10: 5,348,943	I1048L	possibly damaging	Het
Th	T	C	7: 142,896,041	E41G	probably damaging	Het
Tmx4	T	A	2: 134,598,526	*336L	probably null	Het
Tnfrsf18	T	C	4: 156,026,415	V10A	possibly damaging	Het
Tnxb	A	T	17: 34,716,984	I2670F	probably damaging	Het
Tpx2	T	C	2: 152,890,492	V562A	probably damaging	Het
Vmn2r73	A	G	7: 85,871,789	S324P	probably benign	Het
Vps18	T	C	2: 119,297,365	Y890H	probably benign	Het
Ythdc1	G	A	5: 86,835,705	D670N	probably damaging	Het

Other mutations in Rbm4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R2093:Rbm4	UTSW	19	4787764	missense	probably damaging	0.99
R3693:Rbm4	UTSW	19	4787383	missense	probably damaging	1.00
R3694:Rbm4	UTSW	19	4787383	missense	probably damaging	1.00
R3695:Rbm4	UTSW	19	4787383	missense	probably damaging	1.00
R6103:Rbm4	UTSW	19	4787919	missense	probably damaging	0.98
R7598:Rbm4	UTSW	19	4792511	missense	possibly damaging	0.73
R7810:Rbm4	UTSW	19	4792622	missense	possibly damaging	0.96
R8218:Rbm4	UTSW	19	4787416	missense	probably damaging	0.99
R8936:Rbm4	UTSW	19	4787511	missense	probably benign	0.33

Predicted Primers

PCR Primer
(F):5'- TTTAAAAGGCTGAGTACCGCGCCC -3'
(R):5'- GTGATAGCAACCCTTCTTGCGTCTG -3'

Sequencing Primer
(F):5'- GCCCGATCCGCATACTG -3'
(R):5'- AGAGTGTCCAATAGATCGTTCG -3'

Posted On

2013-04-16