Mutagenetix > Incidental Mutations

Incidental Mutation 'R0380:Rbm25'

30945

Institutional Source

Beutler Lab

Gene Symbol

Rbm25

Ensembl Gene

ENSMUSG00000010608

Gene Name

RNA binding motif protein 25

Synonyms

A130095G20Rik, 2610015J01Rik, 2600011C06Rik

MMRRC Submission

038586-MU

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

R0380 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

83631236-83683123 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 83660356 bp

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 259 (T259A)

Ref Sequence

ENSEMBL: ENSMUSP00000138572 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000048155] [ENSMUST00000181983] [ENSMUST00000182036] [ENSMUST00000182450] [ENSMUST00000182633]

Predicted Effect

unknown
Transcript: ENSMUST00000048155
AA Change: T259A

SMART Domains

Protein: ENSMUSP00000048470
Gene: ENSMUSG00000010608
AA Change: T259A

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
AA Change: T259A

PolyPhen 2 Score 0.019 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000138572
Gene: ENSMUSG00000010608
AA Change: T259A

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: ENSMUST00000182036

SMART Domains

Protein: ENSMUSP00000138565
Gene: ENSMUSG00000010608

Domain	Start	End	E-Value	Type
low complexity region	10	44	N/A	INTRINSIC
RRM	88	160	2.52e-11	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000182255

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

probably benign
Transcript: ENSMUST00000182633

SMART Domains

Protein: ENSMUSP00000138625
Gene: ENSMUSG00000010608

Domain	Start	End	E-Value	Type
low complexity region	29	63	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000183242

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000183282

Meta Mutation Damage Score

0.0701

Coding Region Coverage

1x: 99.1%
3x: 98.1%
10x: 95.6%
20x: 90.5%

Validation Efficiency

100% (58/58)

Allele List at MGI

Other mutations in this stock

Total: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca13	A	T	11: 9,588,500		probably null	Het
Abca14	A	T	7: 120,278,480	I1073L	probably benign	Het
Adamts17	C	T	7: 67,150,044	P1116L	probably benign	Het
Adgrb2	C	G	4: 130,007,831	P416R	probably damaging	Het
Ano4	A	G	10: 88,978,813	I671T	possibly damaging	Het
Ap1g1	A	G	8: 109,803,164		probably benign	Het
Arhgap19	A	G	19: 41,773,137		probably benign	Het
Arhgap32	C	T	9: 32,246,477	R129W	probably damaging	Het
Atp10b	G	T	11: 43,225,597	A924S	probably damaging	Het
Ccdc180	T	A	4: 45,930,197		probably null	Het
Cckbr	A	G	7: 105,434,991	T311A	probably benign	Het
Cr2	C	T	1: 195,157,407	G947R	probably damaging	Het
Cyp2g1	T	A	7: 26,814,295		probably benign	Het
Dennd1c	G	A	17: 57,073,822	A210V	probably damaging	Het
Doxl2	A	G	6: 48,975,839	I233V	probably benign	Het
Dscam	A	G	16: 97,056,610	Y67H	probably damaging	Het
Dsg2	T	A	18: 20,582,939	Y282*	probably null	Het
Epg5	T	C	18: 77,960,841	L688P	probably damaging	Het
Esr2	T	G	12: 76,123,291	E458A	possibly damaging	Het
Fat1	T	C	8: 45,010,123	S1326P	probably damaging	Het
Flt1	A	G	5: 147,588,572	S919P	probably damaging	Het
Gpr12	T	A	5: 146,583,336	T259S	probably damaging	Het
Grm5	T	A	7: 88,074,376	C625S	possibly damaging	Het
H2-Q1	C	T	17: 35,323,078	H209Y	probably damaging	Het
Hcfc2	C	A	10: 82,728,438		probably benign	Het
Itgal	C	A	7: 127,310,751	Y495*	probably null	Het
Kbtbd3	T	A	9: 4,330,545	Y306*	probably null	Het
Kcns2	T	C	15: 34,839,172	F227S	possibly damaging	Het
Kif1a	T	A	1: 93,056,031		probably null	Het
Maml2	C	T	9: 13,621,100	R537*	probably null	Het
Muc4	G	A	16: 32,752,905	A928T	probably benign	Het
Nav3	A	G	10: 109,758,879		probably benign	Het
Neb	A	T	2: 52,232,202	M605K	probably damaging	Het
Olfr15	A	T	16: 3,838,985	D4V	probably benign	Het
Pcdhb3	T	G	18: 37,302,157	I392S	possibly damaging	Het
Prune2	A	G	19: 17,124,007	T2292A	probably damaging	Het
Rbbp8nl	A	T	2: 180,281,719	M108K	probably damaging	Het
Recql	C	A	6: 142,369,430	R243L	probably damaging	Het
Rsf1	TGGCG	TGGCGACGGCGGCG	7: 97,579,905		probably benign	Het
Serpinb12	T	C	1: 106,950,821		probably null	Het
Slc16a14	T	A	1: 84,929,530	I8F	possibly damaging	Het
Spef1	G	T	2: 131,172,412		probably benign	Het
Tas2r103	A	G	6: 133,036,203	L300P	probably damaging	Het
Tas2r117	A	T	6: 132,803,588	R230*	probably null	Het
Tcam1	G	A	11: 106,284,078	E120K	probably benign	Het
Thnsl2	A	T	6: 71,141,330	L38Q	probably damaging	Het
Tmem171	G	T	13: 98,692,027	T205K	possibly damaging	Het
Tmem232	A	T	17: 65,256,448	L650Q	probably benign	Het
Tpr	T	A	1: 150,412,947	D518E	probably benign	Het
Tsen54	T	C	11: 115,822,597	V442A	probably damaging	Het
Tshz3	A	T	7: 36,771,300	I905F	probably damaging	Het
Vmn1r66	C	T	7: 10,274,743	C121Y	probably benign	Het
Wdfy3	T	C	5: 101,948,966	Q322R	probably damaging	Het
Wdr64	T	C	1: 175,769,642		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
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
R6282:Rbm25	UTSW	12	83676089	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
R8154:Rbm25	UTSW	12	83644431	missense	unknown
R8444:Rbm25	UTSW	12	83664251	missense	unknown
Z1176:Rbm25	UTSW	12	83672884	missense	possibly damaging	0.92

Predicted Primers

PCR Primer
(F):5'- AGCATGTGATGGGTGATAGAGGGATT -3'
(R):5'- TCAGTGACTGAGAACAATTAGCAATGGC -3'

Sequencing Primer
(F):5'- TGATGGGTGATAGAGGGATTTAAAG -3'
(R):5'- AGAATACTACCTTGTGTGTATCTCTG -3'

Posted On

2013-04-24