Mutagenetix > Incidental Mutations

Incidental Mutation 'R6282:Rbm25'

508014

Institutional Source

Beutler Lab

Gene Symbol

Rbm25

Ensembl Gene

ENSMUSG00000010608

Gene Name

RNA binding motif protein 25

Synonyms

A130095G20Rik, 2610015J01Rik, 2600011C06Rik

MMRRC Submission

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

R6282 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

83631236-83683123 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 83676089 bp

Zygosity

Heterozygous

Amino Acid Change

Methionine to Threonine at position 762 (M762T)

Ref Sequence

ENSEMBL: ENSMUSP00000048470 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000048155] [ENSMUST00000181983] [ENSMUST00000182450]

Predicted Effect

probably damaging
Transcript: ENSMUST00000048155
AA Change: M762T

PolyPhen 2 Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000048470
Gene: ENSMUSG00000010608
AA Change: M762T

Domain	Start	End	E-Value	Type
low complexity region	10	44	N/A	INTRINSIC
RRM	88	160	2.52e-11	SMART
low complexity region	234	241	N/A	INTRINSIC
coiled coil region	270	351	N/A	INTRINSIC
coiled coil region	382	549	N/A	INTRINSIC
low complexity region	556	606	N/A	INTRINSIC
low complexity region	616	625	N/A	INTRINSIC
PWI	758	831	2.79e-38	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000181983

SMART Domains

Protein: ENSMUSP00000138572
Gene: ENSMUSG00000010608

Domain	Start	End	E-Value	Type
low complexity region	10	44	N/A	INTRINSIC
RRM	88	160	2.52e-11	SMART
internal_repeat_1	187	203	3e-5	PROSPERO
low complexity region	234	241	N/A	INTRINSIC
internal_repeat_1	258	274	3e-5	PROSPERO
coiled coil region	382	549	N/A	INTRINSIC
low complexity region	556	571	N/A	INTRINSIC
low complexity region	575	584	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000182450

SMART Domains

Protein: ENSMUSP00000138416
Gene: ENSMUSG00000010608

Domain	Start	End	E-Value	Type
low complexity region	10	44	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000182840

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000183181

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.6%
20x: 96.3%

Validation Efficiency

98% (45/46)

Allele List at MGI

Other mutations in this stock

Total: 45 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700001O22Rik	A	T	2: 30,800,769	L185Q	possibly damaging	Het
Abca6	A	T	11: 110,208,824	C966S	probably damaging	Het
Atp13a4	A	T	16: 29,434,004	I708N	probably benign	Het
Axin1	C	G	17: 26,143,037	D118E	probably damaging	Het
Bace2	A	T	16: 97,415,097	I297F	probably damaging	Het
C87499	T	C	4: 88,630,054	E38G	probably damaging	Het
Ccdc30	T	A	4: 119,324,017	D649V	probably damaging	Het
Cd180	G	A	13: 102,693,757	A20T	possibly damaging	Het
Cdk18	T	C	1: 132,120,020	D112G	probably damaging	Het
Cuedc1	A	G	11: 88,183,402	N254S	probably damaging	Het
Dnah7a	T	C	1: 53,503,601	H2470R	probably damaging	Het
Drap1	G	A	19: 5,424,436		probably null	Het
Fam196b	A	G	11: 34,402,819	D287G	possibly damaging	Het
Fbxo5	T	A	10: 5,801,216	K257M	probably damaging	Het
Gm11595	G	A	11: 99,772,555	R100C	unknown	Het
Gm12790	A	G	4: 101,967,516	V185A	possibly damaging	Het
Gm7361	A	G	5: 26,260,413	N136S	probably benign	Het
Il10ra	C	A	9: 45,260,405	C255F	probably damaging	Het
Itgam	A	T	7: 128,084,942	T340S	probably benign	Het
Ktn1	A	T	14: 47,663,971	N62I	probably damaging	Het
Ldb2	A	G	5: 44,532,665	L204P	probably damaging	Het
Map2k4	T	C	11: 65,707,016	T90A	possibly damaging	Het
Mettl3	A	T	14: 52,297,971	D287E	probably benign	Het
Mier2	A	G	10: 79,544,742	F278S	probably damaging	Het
Mis18bp1	A	G	12: 65,149,163	M609T	probably benign	Het
Myo1d	A	T	11: 80,557,512	V929D	probably damaging	Het
Naprt	A	T	15: 75,891,979	M364K	probably benign	Het
Nod2	T	A	8: 88,670,460	C833S	probably benign	Het
Nrip3	C	T	7: 109,763,479		probably null	Het
Ntsr2	A	G	12: 16,658,425	Y320C	probably damaging	Het
Olfr1178	C	A	2: 88,391,533	C95*	probably null	Het
Olfr555	G	A	7: 102,659,647	M275I	probably benign	Het
Olfr761	G	A	17: 37,952,424	S200F	possibly damaging	Het
Osbpl3	A	T	6: 50,348,083		probably null	Het
Pcdhb3	C	T	18: 37,301,646	R222C	probably damaging	Het
Pik3cd	G	T	4: 149,659,743	R184S	probably benign	Het
Rad50	A	T	11: 53,669,770		probably null	Het
Rad51ap2	A	T	12: 11,457,559	H494L	probably benign	Het
Sars	G	T	3: 108,428,274	S338*	probably null	Het
Usp35	T	C	7: 97,325,948	E6G	probably damaging	Het
Vash2	T	C	1: 190,960,225	Y251C	probably benign	Het
Vmn2r111	T	C	17: 22,559,051	N549S	possibly damaging	Het
Wdr20	T	A	12: 110,797,009		probably benign	Het
Wfdc1	G	A	8: 119,679,407	C87Y	probably damaging	Het
Zfp985	T	A	4: 147,583,348	H224Q	probably benign	Het

Other mutations in Rbm25

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01614:Rbm25	APN	12	83659567	missense	probably damaging	1.00
IGL02095:Rbm25	APN	12	83671974	missense	probably damaging	1.00
IGL02227:Rbm25	APN	12	83672753	missense	probably damaging	1.00
IGL02454:Rbm25	APN	12	83660322	missense	probably benign	0.02
IGL02704:Rbm25	APN	12	83642726	missense	probably damaging	1.00
IGL02726:Rbm25	APN	12	83672852	missense	probably damaging	1.00
IGL03384:Rbm25	APN	12	83659523	missense	probably benign	0.28
R0380:Rbm25	UTSW	12	83660356	missense	probably benign	0.02
R0829:Rbm25	UTSW	12	83660376	splice site	probably benign
R1330:Rbm25	UTSW	12	83677892	missense	probably damaging	1.00
R1346:Rbm25	UTSW	12	83644393	splice site	probably benign
R1518:Rbm25	UTSW	12	83668445	missense	possibly damaging	0.91
R1566:Rbm25	UTSW	12	83675054	missense	probably damaging	0.98
R1660:Rbm25	UTSW	12	83668150	unclassified	probably benign
R1809:Rbm25	UTSW	12	83672727	splice site	probably benign
R2213:Rbm25	UTSW	12	83676082	missense	probably benign	0.00
R2336:Rbm25	UTSW	12	83651418	missense	probably damaging	1.00
R2943:Rbm25	UTSW	12	83660641	missense	probably damaging	1.00
R3971:Rbm25	UTSW	12	83675208	missense	probably benign	0.03
R4349:Rbm25	UTSW	12	83675173	missense	probably damaging	0.99
R4740:Rbm25	UTSW	12	83644407	missense	possibly damaging	0.61
R4987:Rbm25	UTSW	12	83677856	missense	probably damaging	1.00
R5205:Rbm25	UTSW	12	83672869	missense	probably benign	0.03
R5579:Rbm25	UTSW	12	83668507	missense	probably benign	0.41
R5603:Rbm25	UTSW	12	83664216	nonsense	probably null
R5909:Rbm25	UTSW	12	83681588	missense	probably damaging	0.97
R5930:Rbm25	UTSW	12	83677866	missense	possibly damaging	0.46
R5982:Rbm25	UTSW	12	83671951	missense	probably damaging	0.99
R6233:Rbm25	UTSW	12	83659426	missense	probably benign	0.24
R6275:Rbm25	UTSW	12	83644432	missense	probably damaging	0.98
R7156:Rbm25	UTSW	12	83664191	missense	unknown
R7188:Rbm25	UTSW	12	83663998	missense	unknown
R7217:Rbm25	UTSW	12	83664217	missense	unknown
R7403:Rbm25	UTSW	12	83676134	missense	probably damaging	1.00
R7508:Rbm25	UTSW	12	83672877	missense	probably damaging	0.99
R7703:Rbm25	UTSW	12	83675090	missense	possibly damaging	0.69
R8004:Rbm25	UTSW	12	83674392	missense	possibly damaging	0.61
Z1176:Rbm25	UTSW	12	83672884	missense	possibly damaging	0.92

Predicted Primers

PCR Primer
(F):5'- CCCTGCACCGTACAACTTAATAGTC -3'
(R):5'- GCTGACTTCAAATATCAGGTCAC -3'

Sequencing Primer
(F):5'- CCATGGAAATTCAAATGGCTGTTTGG -3'
(R):5'- AAATTTTGTGTAGATGCAGG -3'

Posted On

2018-03-15