Mutagenetix > Incidental Mutation

Incidental Mutation 'R1317:Rbm27'

157586

Institutional Source

Beutler Lab

Gene Symbol

Rbm27

Ensembl Gene

ENSMUSG00000024491

Gene Name

RNA binding motif protein 27

Synonyms

Psc1

MMRRC Submission

039383-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1317 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

42408418-42474607 bp(+) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

G to A at 42457116 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000089540 (fasta)

Gene Model

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

AlphaFold

Q5SFM8

Predicted Effect

probably benign
Transcript: ENSMUST00000046972

SMART Domains

Protein: ENSMUSP00000041688
Gene: ENSMUSG00000024491

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 benign
Transcript: ENSMUST00000091920

SMART Domains

Protein: ENSMUSP00000089540
Gene: ENSMUSG00000024491

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

Coding Region Coverage

1x: 98.7%
3x: 97.5%
10x: 93.7%
20x: 84.9%

Validation Efficiency

100% (42/42)

Allele List at MGI

Other mutations in this stock

Total: 31 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abi3bp	C	T	16: 56,488,672 (GRCm39)	H1268Y	possibly damaging	Het
Afdn	A	G	17: 14,066,535 (GRCm39)	T576A	probably benign	Het
Bcl6	G	T	16: 23,796,292 (GRCm39)	A45D	probably damaging	Het
Ccdc7b	A	T	8: 129,863,127 (GRCm39)	H223L	probably benign	Het
Cdh15	G	C	8: 123,584,234 (GRCm39)	E112Q	probably damaging	Het
Cryba2	G	T	1: 74,929,835 (GRCm39)		probably null	Het
Depdc1a	T	C	3: 159,228,924 (GRCm39)	C559R	probably damaging	Het
Fam20a	A	T	11: 109,568,664 (GRCm39)	N287K	probably damaging	Het
Gm5519	T	C	19: 33,802,391 (GRCm39)	Y145H	possibly damaging	Het
Gm9602	T	A	14: 15,932,645 (GRCm39)	I28N	probably damaging	Het
Gmeb1	G	A	4: 131,962,198 (GRCm39)	Q154*	probably null	Het
Gpr156	T	C	16: 37,807,929 (GRCm39)	L192P	probably damaging	Het
Hnrnpu	G	A	1: 178,157,822 (GRCm39)		probably benign	Het
Ifi209	A	G	1: 173,465,029 (GRCm39)	D53G	possibly damaging	Het
Irf6	G	A	1: 192,851,609 (GRCm39)	R400H	probably damaging	Het
Jag2	T	A	12: 112,878,121 (GRCm39)	M537L	probably benign	Het
Mid1	A	C	X: 168,769,090 (GRCm39)	N215H	probably damaging	Het
Mt1	T	C	8: 94,906,781 (GRCm39)		probably benign	Het
Myo15b	C	A	11: 115,774,460 (GRCm39)	P2024Q	probably null	Het
Nphs1	C	T	7: 30,181,256 (GRCm39)		probably benign	Het
Robo2	A	G	16: 73,831,912 (GRCm39)	V256A	probably damaging	Het
Rps24	A	G	14: 24,541,830 (GRCm39)	T6A	probably damaging	Het
Scg3	G	A	9: 75,576,622 (GRCm39)	T251M	probably damaging	Het
Slc25a23	T	C	17: 57,360,888 (GRCm39)	K179E	possibly damaging	Het
Smad5	T	C	13: 56,883,884 (GRCm39)		probably benign	Het
Tom1	T	C	8: 75,778,179 (GRCm39)	V87A	probably benign	Het
Trim30b	T	A	7: 104,006,542 (GRCm39)	T105S	possibly damaging	Het
Tspan32	A	G	7: 142,571,328 (GRCm39)	M159V	probably benign	Het
Tubb1	A	G	2: 174,298,689 (GRCm39)	S124G	probably benign	Het
Zbtb1	A	G	12: 76,433,573 (GRCm39)	S520G	probably benign	Het
Zdhhc7	T	A	8: 120,811,639 (GRCm39)	H188L	probably benign	Het

Other mutations in Rbm27

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01064:Rbm27	APN	18	42,452,879 (GRCm39)	missense	possibly damaging	0.82
IGL01630:Rbm27	APN	18	42,434,905 (GRCm39)	missense	probably damaging	1.00
IGL02045:Rbm27	APN	18	42,452,978 (GRCm39)	missense	possibly damaging	0.52
IGL03031:Rbm27	APN	18	42,466,464 (GRCm39)	critical splice donor site	probably null
IGL03085:Rbm27	APN	18	42,460,589 (GRCm39)	splice site	probably benign
IGL03249:Rbm27	APN	18	42,434,812 (GRCm39)	missense	probably damaging	0.99
IGL03372:Rbm27	APN	18	42,438,781 (GRCm39)	missense	probably damaging	0.99
messenger	UTSW	18	42,466,468 (GRCm39)	splice site	probably null
R0048:Rbm27	UTSW	18	42,431,529 (GRCm39)	missense	probably benign	0.02
R0048:Rbm27	UTSW	18	42,431,529 (GRCm39)	missense	probably benign	0.02
R0111:Rbm27	UTSW	18	42,438,737 (GRCm39)	splice site	probably benign
R0122:Rbm27	UTSW	18	42,447,033 (GRCm39)	intron	probably benign
R0707:Rbm27	UTSW	18	42,459,091 (GRCm39)	critical splice donor site	probably null
R1253:Rbm27	UTSW	18	42,434,839 (GRCm39)	missense	probably damaging	0.99
R1268:Rbm27	UTSW	18	42,466,367 (GRCm39)	missense	probably damaging	1.00
R1403:Rbm27	UTSW	18	42,450,746 (GRCm39)	missense	probably damaging	0.97
R1403:Rbm27	UTSW	18	42,450,746 (GRCm39)	missense	probably damaging	0.97
R2187:Rbm27	UTSW	18	42,459,022 (GRCm39)	missense	probably damaging	1.00
R2358:Rbm27	UTSW	18	42,425,177 (GRCm39)	splice site	probably benign
R3123:Rbm27	UTSW	18	42,460,230 (GRCm39)	missense	probably damaging	1.00
R3711:Rbm27	UTSW	18	42,425,177 (GRCm39)	splice site	probably benign
R3712:Rbm27	UTSW	18	42,425,177 (GRCm39)	splice site	probably benign
R4616:Rbm27	UTSW	18	42,434,840 (GRCm39)	missense	probably damaging	0.96
R4839:Rbm27	UTSW	18	42,460,510 (GRCm39)	missense	probably damaging	1.00
R5151:Rbm27	UTSW	18	42,471,509 (GRCm39)	missense	probably damaging	1.00
R5308:Rbm27	UTSW	18	42,460,275 (GRCm39)	missense	probably damaging	1.00
R5696:Rbm27	UTSW	18	42,450,731 (GRCm39)	missense	probably damaging	1.00
R5868:Rbm27	UTSW	18	42,433,450 (GRCm39)	missense	possibly damaging	0.86
R6058:Rbm27	UTSW	18	42,460,570 (GRCm39)	missense	probably damaging	1.00
R6477:Rbm27	UTSW	18	42,466,383 (GRCm39)	missense	probably damaging	1.00
R6499:Rbm27	UTSW	18	42,470,076 (GRCm39)	missense	probably damaging	1.00
R6658:Rbm27	UTSW	18	42,457,178 (GRCm39)	missense	probably damaging	1.00
R6700:Rbm27	UTSW	18	42,459,004 (GRCm39)	missense	probably damaging	1.00
R6784:Rbm27	UTSW	18	42,434,929 (GRCm39)	missense	probably benign	0.00
R6812:Rbm27	UTSW	18	42,466,468 (GRCm39)	splice site	probably null
R7162:Rbm27	UTSW	18	42,447,092 (GRCm39)	missense	unknown
R7606:Rbm27	UTSW	18	42,460,578 (GRCm39)	missense	probably damaging	1.00
R7904:Rbm27	UTSW	18	42,465,921 (GRCm39)	missense	probably damaging	1.00
R7969:Rbm27	UTSW	18	42,408,545 (GRCm39)	start gained	probably benign
R8177:Rbm27	UTSW	18	42,457,175 (GRCm39)	missense	probably damaging	1.00
R9052:Rbm27	UTSW	18	42,465,893 (GRCm39)	missense	probably damaging	1.00
R9091:Rbm27	UTSW	18	42,438,829 (GRCm39)	missense	probably benign	0.06
R9206:Rbm27	UTSW	18	42,447,163 (GRCm39)	nonsense	probably null
R9269:Rbm27	UTSW	18	42,460,572 (GRCm39)	missense	probably benign	0.02
R9270:Rbm27	UTSW	18	42,438,829 (GRCm39)	missense	probably benign	0.06
R9680:Rbm27	UTSW	18	42,455,186 (GRCm39)	missense	probably damaging	0.98
X0065:Rbm27	UTSW	18	42,432,385 (GRCm39)	missense	possibly damaging	0.70
Z1176:Rbm27	UTSW	18	42,466,299 (GRCm39)	frame shift	probably null
Z1177:Rbm27	UTSW	18	42,471,517 (GRCm39)	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- CTAGCCACGGTGCATTAAAGCTATCT -3'
(R):5'- AGCATACCGGACAATCTTCCCCA -3'

Sequencing Primer
(F):5'- attgaaccaggcagggac -3'
(R):5'- AGAAGAACCACCAGTCTGATTTAG -3'

Posted On

2014-02-18