Mutagenetix > Incidental Mutation

Incidental Mutation 'R7508:Rbm25'

581908

Institutional Source

Beutler Lab

Gene Symbol

Rbm25

Ensembl Gene

ENSMUSG00000010608

Gene Name

RNA binding motif protein 25

Synonyms

2610015J01Rik, A130095G20Rik, 2600011C06Rik

MMRRC Submission

045581-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R7508 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

83678990-83729901 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 83719651 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 557 (L557P)

Ref Sequence

ENSEMBL: ENSMUSP00000138572 (fasta)

Gene Model

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

AlphaFold

B2RY56

Predicted Effect

probably damaging
Transcript: ENSMUST00000048155
AA Change: L557P

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000048470
Gene: ENSMUSG00000010608
AA Change: L557P

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 damaging
Transcript: ENSMUST00000181983
AA Change: L557P

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000138572
Gene: ENSMUSG00000010608
AA Change: L557P

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

Meta Mutation Damage Score

0.2291

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.0%

Validation Efficiency

100% (56/56)

Allele List at MGI

Other mutations in this stock

Total: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgra3	C	T	5: 50,174,209 (GRCm39)	A110T	probably benign	Het
Adra1a	A	C	14: 66,875,384 (GRCm39)	I120L	probably damaging	Het
Ahnak2	C	T	12: 112,740,839 (GRCm39)	V1078I	possibly damaging	Het
Ccser1	A	G	6: 61,547,707 (GRCm39)	H590R	probably benign	Het
Cdh12	T	G	15: 21,583,851 (GRCm39)	L564V	probably benign	Het
Celsr3	T	A	9: 108,713,821 (GRCm39)	H1900Q	probably benign	Het
Clasp1	T	A	1: 118,473,164 (GRCm39)	M918K	probably benign	Het
Cmtm6	A	G	9: 114,560,308 (GRCm39)	E2G	probably damaging	Het
Ctsg	A	G	14: 56,337,998 (GRCm39)		probably null	Het
Cylc2	T	A	4: 51,229,256 (GRCm39)		probably null	Het
Dna2	A	G	10: 62,807,772 (GRCm39)		probably null	Het
Dnai1	G	A	4: 41,614,323 (GRCm39)	R333H	probably benign	Het
Egln3	T	C	12: 54,227,414 (GRCm39)	D239G	probably benign	Het
Eif1ad12	T	C	12: 87,541,612 (GRCm39)	M41T	possibly damaging	Het
Fam13a	A	T	6: 58,964,269 (GRCm39)	D54E	probably damaging	Het
Fn1	A	G	1: 71,636,675 (GRCm39)	V2159A	probably benign	Het
Gcnt2	T	A	13: 41,041,157 (GRCm39)	F105L	probably benign	Het
Gpd1	G	A	15: 99,619,967 (GRCm39)	S255N	probably damaging	Het
Hacd4	A	G	4: 88,355,715 (GRCm39)	F57L	probably benign	Het
Helb	T	C	10: 119,941,188 (GRCm39)	D500G	probably benign	Het
Ighv1-26	G	A	12: 114,752,062 (GRCm39)	S94F	probably damaging	Het
Kirrel1	T	C	3: 86,990,746 (GRCm39)	D692G	possibly damaging	Het
Klra7	A	T	6: 130,207,054 (GRCm39)		probably null	Het
Lyl1	T	C	8: 85,430,929 (GRCm39)	V277A	probably benign	Het
Mon2	A	C	10: 122,859,844 (GRCm39)	W811G	probably damaging	Het
Myo9b	T	C	8: 71,807,445 (GRCm39)	L1627P	probably benign	Het
Neurl1b	C	G	17: 26,657,720 (GRCm39)	H219Q	probably benign	Het
Odf4	A	T	11: 68,813,249 (GRCm39)	C218S	possibly damaging	Het
Or2b6	T	A	13: 21,822,779 (GRCm39)	I305F	probably benign	Het
Or8u3-ps	A	G	2: 85,952,282 (GRCm39)	N5S	possibly damaging	Het
Pde5a	A	G	3: 122,611,679 (GRCm39)	D571G	probably damaging	Het
Pgc	A	G	17: 48,045,111 (GRCm39)	E343G	probably benign	Het
Pik3cd	A	G	4: 149,739,040 (GRCm39)	F667L	possibly damaging	Het
Prf1	G	A	10: 61,135,934 (GRCm39)	R70H	possibly damaging	Het
Ptprb	C	T	10: 116,189,896 (GRCm39)	Q1565*	probably null	Het
Rapgef4	T	A	2: 72,036,077 (GRCm39)	N523K	probably benign	Het
Rhobtb3	C	T	13: 76,026,976 (GRCm39)	V466I	probably benign	Het
Rnpep	A	G	1: 135,206,596 (GRCm39)	V166A	probably benign	Het
Sgo2a	A	G	1: 58,056,954 (GRCm39)	K1046R	probably benign	Het
Slc12a2	T	C	18: 58,037,465 (GRCm39)	V525A	probably benign	Het
Slc1a4	A	T	11: 20,256,487 (GRCm39)	I448N	probably damaging	Het
Slc29a4	C	T	5: 142,704,261 (GRCm39)	P305L	probably benign	Het
Slc9a5	T	A	8: 106,089,885 (GRCm39)		probably null	Het
Spag16	A	T	1: 69,926,679 (GRCm39)	N258I	possibly damaging	Het
Sspo	T	A	6: 48,443,633 (GRCm39)	L2076Q	probably damaging	Het
Taok1	T	A	11: 77,436,152 (GRCm39)	H704L	probably damaging	Het
Tbc1d9b	T	C	11: 50,035,947 (GRCm39)	F148L	probably damaging	Het
Tm4sf1	A	G	3: 57,202,176 (GRCm39)	Y12H	probably benign	Het
Traj6	C	T	14: 54,450,171 (GRCm39)	T9M		Het
Ttll4	A	G	1: 74,726,418 (GRCm39)	N672S	possibly damaging	Het
Ube3a	T	A	7: 58,953,437 (GRCm39)	H790Q	possibly damaging	Het
Usp49	G	A	17: 47,983,205 (GRCm39)	R70Q	probably benign	Het
Vmn2r32	C	T	7: 7,470,373 (GRCm39)	V515M	possibly damaging	Het
Wars1	A	G	12: 108,848,801 (GRCm39)	S49P	probably benign	Het
Zbp1	T	A	2: 173,049,604 (GRCm39)	Q386L	possibly damaging	Het
Zfp369	T	C	13: 65,427,087 (GRCm39)	F10S	unknown	Het
Zfp512	C	G	5: 31,630,883 (GRCm39)	I408M	possibly damaging	Het
Zfp952	A	G	17: 33,222,756 (GRCm39)	I412V	probably benign	Het

Other mutations in Rbm25

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01614:Rbm25	APN	12	83,706,341 (GRCm39)	missense	probably damaging	1.00
IGL02095:Rbm25	APN	12	83,718,748 (GRCm39)	missense	probably damaging	1.00
IGL02227:Rbm25	APN	12	83,719,527 (GRCm39)	missense	probably damaging	1.00
IGL02454:Rbm25	APN	12	83,707,096 (GRCm39)	missense	probably benign	0.02
IGL02704:Rbm25	APN	12	83,689,500 (GRCm39)	missense	probably damaging	1.00
IGL02726:Rbm25	APN	12	83,719,626 (GRCm39)	missense	probably damaging	1.00
IGL03384:Rbm25	APN	12	83,706,297 (GRCm39)	missense	probably benign	0.28
Complexities	UTSW	12	83,724,630 (GRCm39)	missense	probably damaging	1.00
R0380:Rbm25	UTSW	12	83,707,130 (GRCm39)	missense	probably benign	0.02
R0829:Rbm25	UTSW	12	83,707,150 (GRCm39)	splice site	probably benign
R1330:Rbm25	UTSW	12	83,724,666 (GRCm39)	missense	probably damaging	1.00
R1346:Rbm25	UTSW	12	83,691,167 (GRCm39)	splice site	probably benign
R1518:Rbm25	UTSW	12	83,715,219 (GRCm39)	missense	possibly damaging	0.91
R1566:Rbm25	UTSW	12	83,721,828 (GRCm39)	missense	probably damaging	0.98
R1660:Rbm25	UTSW	12	83,714,924 (GRCm39)	unclassified	probably benign
R1809:Rbm25	UTSW	12	83,719,501 (GRCm39)	splice site	probably benign
R2213:Rbm25	UTSW	12	83,722,856 (GRCm39)	missense	probably benign	0.00
R2336:Rbm25	UTSW	12	83,698,192 (GRCm39)	missense	probably damaging	1.00
R2943:Rbm25	UTSW	12	83,707,415 (GRCm39)	missense	probably damaging	1.00
R3971:Rbm25	UTSW	12	83,721,982 (GRCm39)	missense	probably benign	0.03
R4349:Rbm25	UTSW	12	83,721,947 (GRCm39)	missense	probably damaging	0.99
R4740:Rbm25	UTSW	12	83,691,181 (GRCm39)	missense	possibly damaging	0.61
R4987:Rbm25	UTSW	12	83,724,630 (GRCm39)	missense	probably damaging	1.00
R5205:Rbm25	UTSW	12	83,719,643 (GRCm39)	missense	probably benign	0.03
R5579:Rbm25	UTSW	12	83,715,281 (GRCm39)	missense	probably benign	0.41
R5603:Rbm25	UTSW	12	83,710,990 (GRCm39)	nonsense	probably null
R5909:Rbm25	UTSW	12	83,728,362 (GRCm39)	missense	probably damaging	0.97
R5930:Rbm25	UTSW	12	83,724,640 (GRCm39)	missense	possibly damaging	0.46
R5982:Rbm25	UTSW	12	83,718,725 (GRCm39)	missense	probably damaging	0.99
R6233:Rbm25	UTSW	12	83,706,200 (GRCm39)	missense	probably benign	0.24
R6275:Rbm25	UTSW	12	83,691,206 (GRCm39)	missense	probably damaging	0.98
R6282:Rbm25	UTSW	12	83,722,863 (GRCm39)	missense	probably damaging	0.98
R7156:Rbm25	UTSW	12	83,710,965 (GRCm39)	missense	unknown
R7188:Rbm25	UTSW	12	83,710,772 (GRCm39)	missense	unknown
R7217:Rbm25	UTSW	12	83,710,991 (GRCm39)	missense	unknown
R7403:Rbm25	UTSW	12	83,722,908 (GRCm39)	missense	probably damaging	1.00
R7703:Rbm25	UTSW	12	83,721,864 (GRCm39)	missense	possibly damaging	0.69
R8004:Rbm25	UTSW	12	83,721,166 (GRCm39)	missense	possibly damaging	0.61
R8154:Rbm25	UTSW	12	83,691,205 (GRCm39)	missense	unknown
R8444:Rbm25	UTSW	12	83,711,025 (GRCm39)	missense	unknown
Z1176:Rbm25	UTSW	12	83,719,658 (GRCm39)	missense	possibly damaging	0.92

Predicted Primers

PCR Primer
(F):5'- CCTGGATGTTTACCTGAGTCTTAG -3'
(R):5'- TGCACCACCACTAAAGTGTTC -3'

Sequencing Primer
(F):5'- GATGTTTACCTGAGTCTTAGCATTC -3'
(R):5'- AGTTCTGAGTTCATTTAAGACTGATG -3'

Posted On

2019-10-17