Mutagenetix > Incidental Mutation

Incidental Mutation 'R8004:Rbm25'

616533

Institutional Source

Beutler Lab

Gene Symbol

Rbm25

Ensembl Gene

ENSMUSG00000010608

Gene Name

RNA binding motif protein 25

Synonyms

2610015J01Rik, A130095G20Rik, 2600011C06Rik

MMRRC Submission

046044-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R8004 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

83678990-83729901 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 83721166 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Aspartic acid at position 577 (E577D)

Ref Sequence

ENSEMBL: ENSMUSP00000138572 (fasta)

Gene Model

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

AlphaFold

B2RY56

Predicted Effect

possibly damaging
Transcript: ENSMUST00000048155
AA Change: E577D

PolyPhen 2 Score 0.613 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000048470
Gene: ENSMUSG00000010608
AA Change: E577D

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

possibly damaging
Transcript: ENSMUST00000181983
AA Change: E577D

PolyPhen 2 Score 0.613 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000138572
Gene: ENSMUSG00000010608
AA Change: E577D

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

0.0708

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.1%

Validation Efficiency

100% (61/61)

Allele List at MGI

Other mutations in this stock

Total: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A830018L16Rik	T	A	1: 12,021,286 (GRCm39)		probably benign	Het
Abcb11	T	A	2: 69,087,554 (GRCm39)	K1070N	possibly damaging	Het
Ankrd24	T	A	10: 81,474,191 (GRCm39)	N179K	unknown	Het
Atp6v0a4	A	T	6: 38,027,484 (GRCm39)	F775L	possibly damaging	Het
Bbs2	A	G	8: 94,809,118 (GRCm39)	V269A	possibly damaging	Het
Bpifc	T	G	10: 85,815,148 (GRCm39)	S273R	probably benign	Het
Cdan1	C	T	2: 120,561,924 (GRCm39)	R20Q	unknown	Het
Cfap251	T	C	5: 123,392,513 (GRCm39)	W216R	unknown	Het
Chrm2	T	A	6: 36,500,221 (GRCm39)	I26N	probably damaging	Het
Cngb3	A	G	4: 19,505,273 (GRCm39)	K669E	possibly damaging	Het
Cnot1	T	C	8: 96,479,380 (GRCm39)	I876V	probably benign	Het
Col12a1	T	A	9: 79,591,683 (GRCm39)	T926S	probably damaging	Het
Cyp2b23	G	T	7: 26,378,891 (GRCm39)	T191K	probably benign	Het
Dipk1a	T	C	5: 108,057,532 (GRCm39)	D342G	probably damaging	Het
Dpp4	A	G	2: 62,189,172 (GRCm39)	V453A	probably benign	Het
Eif2ak4	T	C	2: 118,247,775 (GRCm39)	S271P	possibly damaging	Het
Fbxw20	G	T	9: 109,050,449 (GRCm39)	P392H	probably damaging	Het
Fcho2	T	A	13: 98,926,013 (GRCm39)	E118V	possibly damaging	Het
Gm2042	C	G	12: 87,926,921 (GRCm39)	Q413E	possibly damaging	Het
Gm904	G	A	13: 50,799,343 (GRCm39)		probably null	Het
H2-D1	A	G	17: 35,485,672 (GRCm39)	S352G	probably benign	Het
Igf2bp3	C	A	6: 49,067,954 (GRCm39)	V451L	probably benign	Het
Igkv1-99	T	C	6: 68,519,112 (GRCm39)	V23A		Het
Igsf10	A	G	3: 59,237,130 (GRCm39)	I1017T	probably benign	Het
Il18r1	G	A	1: 40,513,917 (GRCm39)	C41Y	probably damaging	Het
Itgb4	A	G	11: 115,873,531 (GRCm39)	D249G	probably benign	Het
Ldlrad1	G	A	4: 107,066,688 (GRCm39)	A8T	probably benign	Het
Lrrn2	T	A	1: 132,865,489 (GRCm39)	F185I	probably damaging	Het
Mllt6	G	T	11: 97,566,966 (GRCm39)	E635D	possibly damaging	Het
Msh6	A	G	17: 88,294,215 (GRCm39)	E990G	probably damaging	Het
Myo1h	A	T	5: 114,458,769 (GRCm39)	D184V		Het
Nfatc2ip	A	G	7: 125,989,577 (GRCm39)	V269A	possibly damaging	Het
Nfkb1	C	A	3: 135,297,312 (GRCm39)		probably benign	Het
Nol12	A	T	15: 78,824,717 (GRCm39)	K181N	probably damaging	Het
Npl	T	A	1: 153,379,286 (GRCm39)	T266S	probably benign	Het
Oog2	A	T	4: 143,920,821 (GRCm39)	I85L	probably benign	Het
Or5k3	T	A	16: 58,969,351 (GRCm39)	V46E	probably damaging	Het
Or7e171-ps1	A	T	9: 19,853,408 (GRCm39)	D109E	possibly damaging	Het
Parm1	A	C	5: 91,742,132 (GRCm39)	S167R	probably benign	Het
Pcsk4	T	C	10: 80,158,674 (GRCm39)	D526G	probably damaging	Het
Plscr4	C	T	9: 92,372,843 (GRCm39)	R322*	probably null	Het
Psmd9	T	C	5: 123,379,998 (GRCm39)		probably null	Het
Ralgapa1	A	G	12: 55,749,242 (GRCm39)	V1220A	probably damaging	Het
Rbm44	T	A	1: 91,079,880 (GRCm39)		probably benign	Het
S100a6	T	C	3: 90,521,119 (GRCm39)	F16L	probably benign	Het
Sar1a	C	A	10: 61,520,945 (GRCm39)	H53Q	probably benign	Het
Setd2	G	A	9: 110,421,613 (GRCm39)	A282T		Het
Slc35f5	A	T	1: 125,517,624 (GRCm39)	H474L	probably damaging	Het
Slc4a3	T	C	1: 75,525,711 (GRCm39)		probably null	Het
Smc1b	G	A	15: 84,981,815 (GRCm39)	S735F	probably damaging	Het
Sp3	A	T	2: 72,800,552 (GRCm39)	I531K	possibly damaging	Het
St6galnac5	A	T	3: 152,545,802 (GRCm39)	M252K	probably damaging	Het
Tas2r120	T	A	6: 132,634,390 (GRCm39)	H157Q	possibly damaging	Het
Tbc1d10b	T	A	7: 126,798,183 (GRCm39)	S653C	probably damaging	Het
Tex10	T	C	4: 48,452,047 (GRCm39)	E693G	possibly damaging	Het
Thada	A	G	17: 84,499,633 (GRCm39)	S1855P	probably benign	Het
Tjp2	G	A	19: 24,091,484 (GRCm39)	P559L	probably damaging	Het
Tmem184b	A	G	15: 79,246,966 (GRCm39)	S368P	probably damaging	Het
Tnc	G	A	4: 63,902,894 (GRCm39)	S1461L	probably benign	Het
Tnpo2	T	C	8: 85,771,328 (GRCm39)	F177S	probably benign	Het
Vmn1r58	A	T	7: 5,413,506 (GRCm39)	Y241*	probably null	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
R7508:Rbm25	UTSW	12	83,719,651 (GRCm39)	missense	probably damaging	0.99
R7703:Rbm25	UTSW	12	83,721,864 (GRCm39)	missense	possibly damaging	0.69
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'- GATCCCACTGGTCAATTTAGACAAC -3'
(R):5'- AGACTCATCCCCAGGAGTGTTG -3'

Sequencing Primer
(F):5'- TCTTCAGAGTGAGTTCCAGGACAC -3'
(R):5'- GGGGGTTGCGTTGCCAC -3'

Posted On

2020-01-23