Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL03372:Rbm27'

420333

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Rbm27

Ensembl Gene

ENSMUSG00000024491

Gene Name

RNA binding motif protein 27

Synonyms

Psc1

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL03372

Quality Score

Status

Chromosome

Chromosomal Location

42275353-42341542 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 42305716 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Histidine at position 394 (R394H)

Ref Sequence

ENSEMBL: ENSMUSP00000089540 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000046972] [ENSMUST00000091920]

AlphaFold

Q5SFM8

Predicted Effect

probably damaging
Transcript: ENSMUST00000046972
AA Change: R394H

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000041688
Gene: ENSMUSG00000024491
AA Change: R394H

Domain	Start	End	E-Value	Type
Pfam:PWI	7	77	1.4e-10	PFAM
low complexity region	78	105	N/A	INTRINSIC
low complexity region	123	139	N/A	INTRINSIC
low complexity region	144	158	N/A	INTRINSIC
low complexity region	163	188	N/A	INTRINSIC
low complexity region	213	235	N/A	INTRINSIC
low complexity region	255	268	N/A	INTRINSIC
Pfam:zf-CCCH	274	300	5.2e-7	PFAM
low complexity region	317	358	N/A	INTRINSIC
low complexity region	372	386	N/A	INTRINSIC
low complexity region	448	462	N/A	INTRINSIC
low complexity region	541	555	N/A	INTRINSIC
SCOP:d1l3ka2	598	638	1e-4	SMART
Blast:RRM	601	643	2e-11	BLAST
Blast:RRM_2	744	782	3e-6	BLAST
low complexity region	783	798	N/A	INTRINSIC
low complexity region	853	865	N/A	INTRINSIC
low complexity region	924	938	N/A	INTRINSIC
low complexity region	945	953	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000091920
AA Change: R394H

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000089540
Gene: ENSMUSG00000024491
AA Change: R394H

Domain	Start	End	E-Value	Type
Pfam:PWI	7	77	1.5e-10	PFAM
low complexity region	78	105	N/A	INTRINSIC
low complexity region	123	139	N/A	INTRINSIC
low complexity region	144	158	N/A	INTRINSIC
low complexity region	163	188	N/A	INTRINSIC
low complexity region	213	235	N/A	INTRINSIC
low complexity region	255	268	N/A	INTRINSIC
Pfam:zf-CCCH	274	300	5.5e-7	PFAM
low complexity region	317	358	N/A	INTRINSIC
low complexity region	372	386	N/A	INTRINSIC
low complexity region	486	500	N/A	INTRINSIC
RRM	546	615	7.94e-3	SMART
low complexity region	623	658	N/A	INTRINSIC
Blast:RRM_2	788	826	3e-6	BLAST
low complexity region	827	842	N/A	INTRINSIC
low complexity region	897	909	N/A	INTRINSIC
low complexity region	968	982	N/A	INTRINSIC
low complexity region	989	997	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000175194

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrb2	C	T	4: 130,017,569	A1161V	probably benign	Het
Alpi	A	G	1: 87,100,628		probably benign	Het
Asxl1	A	T	2: 153,400,413	N961I	probably damaging	Het
Bcl2l10	A	G	9: 75,348,047	I49V	probably benign	Het
Bod1l	T	C	5: 41,805,235		probably benign	Het
Ccl20	A	G	1: 83,117,876	M54V	probably benign	Het
Cep72	A	C	13: 74,043,518	L200V	possibly damaging	Het
Clic4	T	C	4: 135,218,614	D164G	probably damaging	Het
Col5a3	G	A	9: 20,775,328	P1334S	unknown	Het
Dab2	T	C	15: 6,429,549	L293P	probably damaging	Het
Ddx50	A	T	10: 62,643,330	S140T	probably benign	Het
Dnah6	A	T	6: 73,075,850	M2897K	probably benign	Het
Dnmt3a	A	G	12: 3,902,666	E721G	probably damaging	Het
Esyt3	A	T	9: 99,336,056		probably benign	Het
Fat4	G	T	3: 38,889,134	K725N	possibly damaging	Het
Fezf1	T	C	6: 23,246,910	I308V	probably damaging	Het
Fut2	C	T	7: 45,650,769	G193E	possibly damaging	Het
Gapdhs	T	C	7: 30,733,249		probably benign	Het
Gm10109	A	T	7: 44,221,702		probably benign	Het
Gpd2	G	A	2: 57,355,507	V405I	probably damaging	Het
Gtf2e1	T	C	16: 37,535,715		probably benign	Het
Iqca	A	G	1: 90,144,969	I63T	possibly damaging	Het
Kcmf1	A	C	6: 72,849,563	L161R	probably damaging	Het
Kif19a	G	T	11: 114,779,218	V80L	probably damaging	Het
Kif21a	A	T	15: 90,956,376	M1179K	probably benign	Het
Krtap19-2	A	G	16: 88,873,886		probably benign	Het
Ksr2	T	A	5: 117,702,718	I575N	possibly damaging	Het
L3mbtl1	A	T	2: 162,971,157		probably benign	Het
Larp1b	A	T	3: 41,024,527	H6L	possibly damaging	Het
Map4k2	T	A	19: 6,342,249		probably benign	Het
Mdh1b	T	C	1: 63,719,995	H146R	possibly damaging	Het
Morc2a	T	C	11: 3,681,813		probably benign	Het
Mvd	A	G	8: 122,443,374		probably benign	Het
Myo7b	C	T	18: 31,998,601	S514N	probably damaging	Het
Nav1	A	T	1: 135,450,903	I1610K	probably damaging	Het
Nbas	T	C	12: 13,534,472	L2095P	probably damaging	Het
Nrros	T	C	16: 32,144,770	N115S	probably damaging	Het
Olfr472	T	C	7: 107,903,370	Y218H	probably damaging	Het
Otud6b	A	C	4: 14,812,519	I276R	possibly damaging	Het
P2rx6	G	A	16: 17,567,492	E150K	probably damaging	Het
Pan2	T	A	10: 128,315,127	L771Q	probably benign	Het
Pbrm1	T	A	14: 31,085,019	N1087K	probably benign	Het
Pcdhb5	G	T	18: 37,320,660	R31L	probably benign	Het
Proser3	A	C	7: 30,543,568	S195A	probably damaging	Het
Rad50	T	C	11: 53,695,294	K292E	probably benign	Het
Samd9l	A	G	6: 3,375,314	I649T	probably damaging	Het
Skint3	G	A	4: 112,255,906		probably benign	Het
Slc4a4	T	A	5: 89,156,426	L576Q	probably damaging	Het
Snx2	A	G	18: 53,216,391	D408G	probably damaging	Het
Taar2	T	C	10: 23,941,171	V203A	probably benign	Het
Tdrd6	C	T	17: 43,625,568	V1530M	probably damaging	Het
Tsc2	A	C	17: 24,619,470	L515R	probably damaging	Het
Unc13a	A	T	8: 71,655,709	M500K	probably damaging	Het
Vmn1r75	A	G	7: 11,880,569	D76G	probably benign	Het
Whrn	T	C	4: 63,418,618	D127G	probably damaging	Het

Other mutations in Rbm27

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01064:Rbm27	APN	18	42319814	missense	possibly damaging	0.82
IGL01630:Rbm27	APN	18	42301840	missense	probably damaging	1.00
IGL02045:Rbm27	APN	18	42319913	missense	possibly damaging	0.52
IGL03031:Rbm27	APN	18	42333399	critical splice donor site	probably null
IGL03085:Rbm27	APN	18	42327524	splice site	probably benign
IGL03249:Rbm27	APN	18	42301747	missense	probably damaging	0.99
messenger	UTSW	18	42333403	splice site	probably null
R0048:Rbm27	UTSW	18	42298464	missense	probably benign	0.02
R0048:Rbm27	UTSW	18	42298464	missense	probably benign	0.02
R0111:Rbm27	UTSW	18	42305672	splice site	probably benign
R0122:Rbm27	UTSW	18	42313968	intron	probably benign
R0707:Rbm27	UTSW	18	42326026	critical splice donor site	probably null
R1253:Rbm27	UTSW	18	42301774	missense	probably damaging	0.99
R1268:Rbm27	UTSW	18	42333302	missense	probably damaging	1.00
R1317:Rbm27	UTSW	18	42324051	splice site	probably benign
R1403:Rbm27	UTSW	18	42317681	missense	probably damaging	0.97
R1403:Rbm27	UTSW	18	42317681	missense	probably damaging	0.97
R2187:Rbm27	UTSW	18	42325957	missense	probably damaging	1.00
R2358:Rbm27	UTSW	18	42292112	splice site	probably benign
R3123:Rbm27	UTSW	18	42327165	missense	probably damaging	1.00
R3711:Rbm27	UTSW	18	42292112	splice site	probably benign
R3712:Rbm27	UTSW	18	42292112	splice site	probably benign
R4616:Rbm27	UTSW	18	42301775	missense	probably damaging	0.96
R4839:Rbm27	UTSW	18	42327445	missense	probably damaging	1.00
R5151:Rbm27	UTSW	18	42338444	missense	probably damaging	1.00
R5308:Rbm27	UTSW	18	42327210	missense	probably damaging	1.00
R5696:Rbm27	UTSW	18	42317666	missense	probably damaging	1.00
R5868:Rbm27	UTSW	18	42300385	missense	possibly damaging	0.86
R6058:Rbm27	UTSW	18	42327505	missense	probably damaging	1.00
R6477:Rbm27	UTSW	18	42333318	missense	probably damaging	1.00
R6499:Rbm27	UTSW	18	42337011	missense	probably damaging	1.00
R6658:Rbm27	UTSW	18	42324113	missense	probably damaging	1.00
R6700:Rbm27	UTSW	18	42325939	missense	probably damaging	1.00
R6784:Rbm27	UTSW	18	42301864	missense	probably benign	0.00
R6812:Rbm27	UTSW	18	42333403	splice site	probably null
R7162:Rbm27	UTSW	18	42314027	missense	unknown
R7606:Rbm27	UTSW	18	42327513	missense	probably damaging	1.00
R7904:Rbm27	UTSW	18	42332856	missense	probably damaging	1.00
R7969:Rbm27	UTSW	18	42275480	start gained	probably benign
R8177:Rbm27	UTSW	18	42324110	missense	probably damaging	1.00
R9052:Rbm27	UTSW	18	42332828	missense	probably damaging	1.00
R9091:Rbm27	UTSW	18	42305764	missense	probably benign	0.06
R9206:Rbm27	UTSW	18	42314098	nonsense	probably null
R9269:Rbm27	UTSW	18	42327507	missense	probably benign	0.02
R9270:Rbm27	UTSW	18	42305764	missense	probably benign	0.06
X0065:Rbm27	UTSW	18	42299320	missense	possibly damaging	0.70
Z1176:Rbm27	UTSW	18	42333234	frame shift	probably null
Z1177:Rbm27	UTSW	18	42338452	nonsense	probably null

Posted On

2016-08-02