Mutagenetix > Incidental Mutation

Incidental Mutation 'R2093:Rbm4'

231950

Institutional Source

Beutler Lab

Gene Symbol

Rbm4

Ensembl Gene

ENSMUSG00000094936

Gene Name

RNA binding motif protein 4

Synonyms

Rbm4a, Lark1

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.615) question?

Stock #

R2093 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

4834321-4843929 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 4837792 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Histidine at position 231 (Y231H)

Ref Sequence

ENSEMBL: ENSMUSP00000137345 (fasta)

Gene Model

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

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: Y347H

PolyPhen 2 Score 0.861 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000128810
Gene: ENSMUSG00000096370
AA Change: Y347H

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

noncoding transcript
Transcript: ENSMUST00000177776

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

unknown
Transcript: ENSMUST00000179909
AA Change: Y206H

SMART Domains

Protein: ENSMUSP00000136623
Gene: ENSMUSG00000096370
AA Change: Y206H

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: Y231H

PolyPhen 2 Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000137345
Gene: ENSMUSG00000094936
AA Change: Y231H

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000178727

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000179820

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

Coding Region Coverage

1x: 99.2%
3x: 98.7%
10x: 97.5%
20x: 95.7%

Validation Efficiency

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: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
AA986860	A	G	1: 130,671,041 (GRCm39)	D421G	probably benign	Het
Adamts1	T	G	16: 85,599,333 (GRCm39)	Q89P	probably benign	Het
Arhgef10l	T	G	4: 140,297,601 (GRCm39)	N277T	possibly damaging	Het
Atp2c1	G	A	9: 105,295,320 (GRCm39)	R669*	probably null	Het
Brip1	T	C	11: 86,029,971 (GRCm39)	T558A	possibly damaging	Het
Cbr2	G	A	11: 120,621,255 (GRCm39)	T148I	probably benign	Het
Ccdc110	C	A	8: 46,395,114 (GRCm39)	T335K	probably damaging	Het
Cd44	T	G	2: 102,644,629 (GRCm39)	D731A	probably damaging	Het
Cnot1	T	C	8: 96,501,986 (GRCm39)	D44G	probably damaging	Het
Cnrip1	T	C	11: 17,002,237 (GRCm39)	V23A	probably damaging	Het
Cntnap5c	A	T	17: 58,505,995 (GRCm39)	H673L	probably benign	Het
Col3a1	C	T	1: 45,372,150 (GRCm39)	A493V	probably damaging	Het
Crem	A	T	18: 3,299,256 (GRCm39)	V19E	probably damaging	Het
Cyp2g1	A	G	7: 26,518,858 (GRCm39)	D418G	probably benign	Het
Dmrta1	A	T	4: 89,579,742 (GRCm39)	H234L	probably benign	Het
Drc3	C	T	11: 60,261,310 (GRCm39)	R154W	probably damaging	Het
Drgx	C	T	14: 32,369,112 (GRCm39)		probably benign	Het
Eef1d	A	G	15: 75,774,550 (GRCm39)	S370P	probably benign	Het
Fdx2	T	C	9: 20,984,720 (GRCm39)	H28R	probably benign	Het
Fmo5	A	G	3: 97,553,194 (GRCm39)	I381V	probably benign	Het
Fpr-rs4	CAGGAA	CA	17: 18,242,596 (GRCm39)		probably null	Het
Fras1	T	C	5: 96,929,062 (GRCm39)	L3822P	probably damaging	Het
Gm3604	G	T	13: 62,517,420 (GRCm39)	H313N	possibly damaging	Het
Heatr4	T	C	12: 84,021,855 (GRCm39)	E460G	possibly damaging	Het
Ino80	T	A	2: 119,257,151 (GRCm39)	H834L	possibly damaging	Het
Insr	A	T	8: 3,254,762 (GRCm39)	C331S	probably damaging	Het
Itih4	C	T	14: 30,613,694 (GRCm39)	L304F	probably damaging	Het
Klhdc3	C	T	17: 46,988,879 (GRCm39)	V104I	probably benign	Het
Lrp2	C	T	2: 69,366,365 (GRCm39)	D245N	probably benign	Het
Map1b	T	C	13: 99,566,178 (GRCm39)	E2181G	unknown	Het
Map2	T	C	1: 66,438,599 (GRCm39)	V41A	probably damaging	Het
Mical3	A	T	6: 121,017,347 (GRCm39)	H156Q	probably damaging	Het
Mrgpra2b	C	T	7: 47,113,908 (GRCm39)	V249I	probably benign	Het
Myo5b	T	A	18: 74,892,263 (GRCm39)	L1669Q	probably damaging	Het
Nme8	G	A	13: 19,835,042 (GRCm39)	S548F	probably damaging	Het
Npas1	A	T	7: 16,193,202 (GRCm39)	N408K	probably benign	Het
Or1j11	A	T	2: 36,311,941 (GRCm39)	Y177F	probably benign	Het
Or8k30	A	C	2: 86,339,587 (GRCm39)	Q261H	probably damaging	Het
Pcnx4	T	C	12: 72,626,216 (GRCm39)	Y1141H	probably damaging	Het
Pmaip1	C	A	18: 66,594,052 (GRCm39)	P64Q	probably damaging	Het
Ranbp3	T	A	17: 57,017,145 (GRCm39)	M387K	probably damaging	Het
Rpgrip1l	T	C	8: 91,996,760 (GRCm39)	S105G	possibly damaging	Het
Rsf1	CG	CGACGGCGGGG	7: 97,229,115 (GRCm39)		probably benign	Het
Rtn3	A	T	19: 7,434,215 (GRCm39)	D573E	probably damaging	Het
Rxrg	T	C	1: 167,454,893 (GRCm39)	C159R	probably damaging	Het
Sdk2	T	C	11: 113,833,948 (GRCm39)	Y78C	probably damaging	Het
Smu1	A	G	4: 40,738,438 (GRCm39)	V432A	probably benign	Het
Spag1	T	C	15: 36,224,276 (GRCm39)	L609P	probably damaging	Het
Spata21	T	G	4: 140,824,277 (GRCm39)	V180G	probably benign	Het
Spata31e2	G	T	1: 26,721,222 (GRCm39)	Y1319*	probably null	Het
Sptlc3	A	T	2: 139,467,794 (GRCm39)	I451F	possibly damaging	Het
Srl	A	G	16: 4,340,896 (GRCm39)	C8R	unknown	Het
Tmprss13	A	G	9: 45,256,340 (GRCm39)	R485G	probably damaging	Het
Trpv4	C	T	5: 114,773,565 (GRCm39)	A266T	probably damaging	Het
Vmn1r198	A	G	13: 22,538,855 (GRCm39)	T25A	probably benign	Het
Vmn2r77	T	C	7: 86,450,702 (GRCm39)	V196A	probably benign	Het
Vmn2r82	C	T	10: 79,231,813 (GRCm39)	T604I	probably benign	Het
Zfp268	C	A	4: 145,349,139 (GRCm39)	T192N	probably benign	Het
Zfp354a	C	T	11: 50,960,551 (GRCm39)	T254I	probably damaging	Het

Other mutations in Rbm4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R0311:Rbm4	UTSW	19	4,837,584 (GRCm39)	missense	probably damaging	1.00
R3693:Rbm4	UTSW	19	4,837,411 (GRCm39)	missense	probably damaging	1.00
R3694:Rbm4	UTSW	19	4,837,411 (GRCm39)	missense	probably damaging	1.00
R3695:Rbm4	UTSW	19	4,837,411 (GRCm39)	missense	probably damaging	1.00
R6103:Rbm4	UTSW	19	4,837,947 (GRCm39)	missense	probably damaging	0.98
R7598:Rbm4	UTSW	19	4,842,539 (GRCm39)	missense	possibly damaging	0.73
R7810:Rbm4	UTSW	19	4,842,650 (GRCm39)	missense	possibly damaging	0.96
R8218:Rbm4	UTSW	19	4,837,444 (GRCm39)	missense	probably damaging	0.99
R8936:Rbm4	UTSW	19	4,837,539 (GRCm39)	missense	probably benign	0.33

Predicted Primers

PCR Primer
(F):5'- CCGCCCGTAATATGAAGTAGAAG -3'
(R):5'- CTGGTCCAAAGAGTGTCCAATAG -3'

Sequencing Primer
(F):5'- TGCAGTACAAGCAGCAGC -3'
(R):5'- TCCAATAGATCGTTCGGGC -3'

Posted On

2014-09-18