Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01875:Rbm4b'

178864

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Rbm4b

Ensembl Gene

ENSMUSG00000033760

Gene Name

RNA binding motif protein 4B

Synonyms

4921506I22Rik, Lark2

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL01875

Quality Score

Status

Chromosome

Chromosomal Location

4806480-4816199 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 4812219 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Isoleucine at position 209 (M209I)

Ref Sequence

ENSEMBL: ENSMUSP00000038256 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000036744] [ENSMUST00000178353] [ENSMUST00000182200]

AlphaFold

Q8VE92

Predicted Effect

probably benign
Transcript: ENSMUST00000036744
AA Change: M209I

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

SMART Domains

Protein: ENSMUSP00000038256
Gene: ENSMUSG00000033760
AA Change: M209I

Domain	Start	End	E-Value	Type
RRM	3	68	5.4e-20	SMART
RRM	79	144	4.77e-21	SMART
ZnF_C2HC	161	177	1.23e-5	SMART
low complexity region	224	245	N/A	INTRINSIC
low complexity region	279	295	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

noncoding transcript
Transcript: ENSMUST00000182065

Predicted Effect

probably benign
Transcript: ENSMUST00000182200

SMART Domains

Protein: ENSMUSP00000138146
Gene: ENSMUSG00000033760

Domain	Start	End	E-Value	Type
RRM	3	68	5.4e-20	SMART
RRM	79	145	9.34e-15	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000182324

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000182821

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000183008

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000183332

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000195512

Coding Region Coverage

Validation Efficiency

MGI Phenotype

PHENOTYPE: Mice homozygous for a null allele exhibit small pancreatic islets and defects in glucose metabolism. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 47 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam11	A	G	11: 102,663,682 (GRCm39)	T287A	probably damaging	Het
Afm	G	T	5: 90,696,742 (GRCm39)		probably benign	Het
Ankrd24	A	G	10: 81,465,571 (GRCm39)		probably benign	Het
Ankrd53	G	T	6: 83,740,031 (GRCm39)	E62*	probably null	Het
Atg4b	A	G	1: 93,706,032 (GRCm39)	S162G	probably damaging	Het
B530045E10Rik	A	T	10: 99,258,177 (GRCm39)		noncoding transcript	Het
Ccng1	A	G	11: 40,643,183 (GRCm39)	V88A	probably benign	Het
Ces1e	T	A	8: 93,950,524 (GRCm39)	M86L	probably benign	Het
Chrne	A	T	11: 70,509,498 (GRCm39)		probably null	Het
Ctsh	T	C	9: 89,946,260 (GRCm39)	S109P	probably damaging	Het
Eif4g1	A	C	16: 20,499,790 (GRCm39)	I420L	probably damaging	Het
Ep300	T	A	15: 81,524,224 (GRCm39)	S1351T	unknown	Het
Fgfr1	A	G	8: 26,063,569 (GRCm39)	M732V	possibly damaging	Het
Gata5	T	G	2: 179,969,138 (GRCm39)		probably benign	Het
Gm10717	C	T	9: 3,025,616 (GRCm39)	S67L	probably benign	Het
Gm3633	A	T	14: 42,461,234 (GRCm39)	M18K	probably damaging	Het
Gucy1b2	A	G	14: 62,657,595 (GRCm39)	L211P	probably damaging	Het
Hemgn	T	C	4: 46,396,994 (GRCm39)	N81D	possibly damaging	Het
Irs2	A	T	8: 11,056,221 (GRCm39)	M737K	probably damaging	Het
Itgb7	C	A	15: 102,126,430 (GRCm39)	C502F	probably damaging	Het
Jakmip1	G	T	5: 37,278,324 (GRCm39)	A534S	probably damaging	Het
Kidins220	A	G	12: 25,107,728 (GRCm39)	H1636R	probably benign	Het
Kirrel1	T	A	3: 87,003,037 (GRCm39)	I119F	probably damaging	Het
Lrba	T	C	3: 86,217,354 (GRCm39)	V527A	probably damaging	Het
Mitf	A	G	6: 97,994,856 (GRCm39)	E409G	probably benign	Het
Mtrr	T	G	13: 68,720,728 (GRCm39)	K289T	probably damaging	Het
Muc2	A	T	7: 141,306,477 (GRCm39)	I739F	probably damaging	Het
Ncor2	T	C	5: 125,142,934 (GRCm39)	T612A	unknown	Het
Or12e7	T	A	2: 87,287,654 (GRCm39)	N48K	probably damaging	Het
Or1x2	A	T	11: 50,918,202 (GRCm39)	R124S	probably damaging	Het
Or6c213	T	A	10: 129,574,791 (GRCm39)		probably benign	Het
Or8b42	T	A	9: 38,341,594 (GRCm39)	N5K	probably damaging	Het
P4ha3	T	A	7: 99,949,859 (GRCm39)	C109S	probably damaging	Het
Prkd3	T	C	17: 79,264,635 (GRCm39)	E660G	possibly damaging	Het
Reln	T	A	5: 22,109,715 (GRCm39)	T3132S	probably benign	Het
Selenbp2	T	A	3: 94,605,451 (GRCm39)	D92E	possibly damaging	Het
Slfn8	G	T	11: 82,894,905 (GRCm39)	Q634K	probably benign	Het
Sumo3	A	T	10: 77,449,832 (GRCm39)	I57F	probably benign	Het
Tacr1	A	G	6: 82,533,997 (GRCm39)	Y341C	probably benign	Het
Tlr4	T	A	4: 66,757,726 (GRCm39)	L173Q	probably damaging	Het
Tshz3	C	T	7: 36,469,385 (GRCm39)	T458M	probably damaging	Het
Vmn1r91	T	A	7: 19,835,859 (GRCm39)	C259*	probably null	Het
Vmn2r16	T	C	5: 109,478,277 (GRCm39)	F11L	probably benign	Het
Vmn2r28	T	A	7: 5,484,302 (GRCm39)	M633L	probably benign	Het
Vmn2r35	T	C	7: 7,819,772 (GRCm39)		probably benign	Het
Vwc2l	G	T	1: 70,768,172 (GRCm39)	A79S	probably benign	Het
Zfhx2	G	A	14: 55,301,372 (GRCm39)	S2204F	unknown	Het

Other mutations in Rbm4b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R1148:Rbm4b	UTSW	19	4,807,527 (GRCm39)	missense	probably damaging	0.98
R1867:Rbm4b	UTSW	19	4,812,331 (GRCm39)	missense	probably benign	0.08
R4924:Rbm4b	UTSW	19	4,807,400 (GRCm39)	missense	probably damaging	1.00
R6746:Rbm4b	UTSW	19	4,812,031 (GRCm39)	missense	probably benign	0.02
R8728:Rbm4b	UTSW	19	4,812,219 (GRCm39)	missense	probably benign
R9215:Rbm4b	UTSW	19	4,812,268 (GRCm39)	missense	possibly damaging	0.60
R9315:Rbm4b	UTSW	19	4,812,028 (GRCm39)	missense	probably damaging	0.98
R9717:Rbm4b	UTSW	19	4,807,359 (GRCm39)	missense	probably damaging	0.99

Posted On

2014-05-07