Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02227:Rbm25'

285629

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Rbm25

Ensembl Gene

ENSMUSG00000010608

Gene Name

RNA binding motif protein 25

Synonyms

2610015J01Rik, A130095G20Rik, 2600011C06Rik

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL02227

Quality Score

Status

Chromosome

Chromosomal Location

83678990-83729901 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 83719527 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Tryptophan at position 516 (R516W)

Ref Sequence

ENSEMBL: ENSMUSP00000048470 (fasta)

Gene Model

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

AlphaFold

B2RY56

Predicted Effect

probably damaging
Transcript: ENSMUST00000048155
AA Change: R516W

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000048470
Gene: ENSMUSG00000010608
AA Change: R516W

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

unknown
Transcript: ENSMUST00000181983
AA Change: R516W

SMART Domains

Protein: ENSMUSP00000138572
Gene: ENSMUSG00000010608
AA Change: R516W

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

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

noncoding transcript
Transcript: ENSMUST00000182840

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000183181

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acsl1	A	G	8: 46,987,402 (GRCm39)	E662G	probably benign	Het
Acss3	A	G	10: 106,881,196 (GRCm39)	S262P	probably benign	Het
Agap1	T	C	1: 89,591,497 (GRCm39)	V263A	probably damaging	Het
Ap3b2	A	G	7: 81,123,152 (GRCm39)	L454P	probably damaging	Het
Arrdc1	A	T	2: 24,816,164 (GRCm39)	F280I	possibly damaging	Het
Atp8b1	G	T	18: 64,695,261 (GRCm39)	H485N	probably benign	Het
Atrip	A	G	9: 108,890,732 (GRCm39)	S91P	possibly damaging	Het
Bcorl1	T	C	X: 47,458,237 (GRCm39)	V590A	probably benign	Het
Brf1	C	A	12: 112,925,394 (GRCm39)	R590S	probably damaging	Het
Ccdc18	A	T	5: 108,296,788 (GRCm39)	D197V	possibly damaging	Het
Ccr6	T	C	17: 8,475,284 (GRCm39)	V163A	probably damaging	Het
Cct6b	T	C	11: 82,632,217 (GRCm39)	E257G	probably damaging	Het
Cdc42bpa	A	G	1: 179,921,989 (GRCm39)	D564G	possibly damaging	Het
Cdh2	C	T	18: 16,762,643 (GRCm39)	V434I	probably benign	Het
Cfap410	A	G	10: 77,818,784 (GRCm39)	N152D	possibly damaging	Het
Cltc	C	T	11: 86,588,166 (GRCm39)	V1610M	possibly damaging	Het
Cnot4	A	G	6: 35,028,198 (GRCm39)	F473L	probably benign	Het
Dock3	T	C	9: 106,939,254 (GRCm39)	K165E	probably damaging	Het
Duox2	A	T	2: 122,115,634 (GRCm39)		probably benign	Het
Epha7	A	G	4: 28,821,587 (GRCm39)	S251G	possibly damaging	Het
Epn1	T	A	7: 5,098,035 (GRCm39)	V282E	probably benign	Het
Fat1	T	C	8: 45,476,696 (GRCm39)	L1914P	probably damaging	Het
Fbln2	T	C	6: 91,233,349 (GRCm39)	I611T	possibly damaging	Het
Fgd6	G	T	10: 93,969,946 (GRCm39)	M1198I	probably damaging	Het
Frmpd4	T	A	X: 166,275,931 (GRCm39)	I379F	probably damaging	Het
Grk4	T	A	5: 34,852,126 (GRCm39)	D123E	probably benign	Het
Hc	T	G	2: 34,899,923 (GRCm39)		probably benign	Het
Hephl1	T	C	9: 14,981,089 (GRCm39)	Y781C	probably damaging	Het
Hfe	T	C	13: 23,890,926 (GRCm39)	E71G	probably benign	Het
Hk1	A	G	10: 62,116,919 (GRCm39)		probably benign	Het
Ifnk	G	A	4: 35,152,642 (GRCm39)		probably benign	Het
Kcnv1	C	A	15: 44,977,670 (GRCm39)	G123C	probably damaging	Het
Klhl38	A	T	15: 58,186,633 (GRCm39)	I32N	possibly damaging	Het
Lpl	T	C	8: 69,348,452 (GRCm39)	V227A	probably damaging	Het
Lurap1l	A	T	4: 80,872,094 (GRCm39)	S196C	probably damaging	Het
Mta1	T	C	12: 113,084,528 (GRCm39)	L91P	possibly damaging	Het
Nelfe	C	A	17: 35,073,330 (GRCm39)	D288E	probably benign	Het
Or5p1	T	A	7: 107,916,408 (GRCm39)	C102*	probably null	Het
Otof	T	C	5: 30,528,128 (GRCm39)	E1905G	probably damaging	Het
Pck2	T	C	14: 55,781,323 (GRCm39)	I148T	probably benign	Het
Plcl2	G	T	17: 50,913,425 (GRCm39)	V145F	probably damaging	Het
Plec	A	G	15: 76,056,474 (GRCm39)	S4510P	probably damaging	Het
Plxna2	A	G	1: 194,434,397 (GRCm39)	E641G	probably damaging	Het
Poglut3	T	C	9: 53,299,779 (GRCm39)	L96S	probably damaging	Het
Ppp1r12a	C	T	10: 108,105,185 (GRCm39)	T434M	probably damaging	Het
Ppp6r3	A	T	19: 3,568,245 (GRCm39)	N184K	possibly damaging	Het
Prkar1a	G	A	11: 109,551,001 (GRCm39)		probably benign	Het
Psmb1	A	T	17: 15,710,546 (GRCm39)	M1K	probably null	Het
Pwwp2a	T	C	11: 43,596,448 (GRCm39)	S538P	possibly damaging	Het
Rnf103	A	G	6: 71,487,172 (GRCm39)	D601G	probably benign	Het
Senp3	A	G	11: 69,565,356 (GRCm39)	V467A	possibly damaging	Het
Slc8a3	T	G	12: 81,362,457 (GRCm39)	T121P	probably damaging	Het
Slco1a8	A	T	6: 141,939,401 (GRCm39)	C197*	probably null	Het
Srrt	G	A	5: 137,294,536 (GRCm39)	T790M	probably damaging	Het
Ssc5d	T	C	7: 4,936,453 (GRCm39)		probably null	Het
Tas2r129	G	A	6: 132,928,357 (GRCm39)	W98*	probably null	Het
Thoc5	A	C	11: 4,876,217 (GRCm39)	M609L	probably benign	Het
Tnip1	G	A	11: 54,827,297 (GRCm39)	T155M	possibly damaging	Het
Ttn	A	G	2: 76,618,672 (GRCm39)	V14458A	probably benign	Het
Unc5cl	A	G	17: 48,766,809 (GRCm39)	E61G	probably benign	Het
Usp32	T	C	11: 84,877,307 (GRCm39)	K151E	probably damaging	Het
Vmn2r121	T	C	X: 123,042,378 (GRCm39)	M260V	probably benign	Het
Vwa7	G	T	17: 35,239,060 (GRCm39)	R345L	probably damaging	Het
Zfp366	G	T	13: 99,370,696 (GRCm39)	R472L	possibly damaging	Het
Zfp811	A	T	17: 33,017,616 (GRCm39)	Y141*	probably null	Het
Zpbp	C	T	11: 11,365,248 (GRCm39)	E200K	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
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
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

Posted On

2015-04-16