Mutagenetix > Incidental Mutation

Incidental Mutation 'R2358:Rbm27'

247042

Institutional Source

Beutler Lab

Gene Symbol

Rbm27

Ensembl Gene

ENSMUSG00000024491

Gene Name

RNA binding motif protein 27

Synonyms

Psc1

MMRRC Submission

040340-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R2358 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

42408418-42474607 bp(+) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

T to C at 42425177 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

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.3%
20x: 95.1%

Validation Efficiency

98% (55/56)

Allele List at MGI

Other mutations in this stock

Total: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb9	CGG	CG	5: 124,215,368 (GRCm39)		probably null	Het
Aif1l	T	A	2: 31,859,763 (GRCm39)	F94L	probably damaging	Het
Ankzf1	C	T	1: 75,171,895 (GRCm39)	H209Y	probably damaging	Het
Ate1	A	T	7: 130,117,895 (GRCm39)	M30K	probably damaging	Het
Cd27	A	G	6: 125,210,281 (GRCm39)	Y189H	probably damaging	Het
Cela1	A	G	15: 100,579,109 (GRCm39)	I183T	probably benign	Het
Copg2	A	T	6: 30,803,168 (GRCm39)	L259*	probably null	Het
Dennd2b	A	T	7: 109,155,653 (GRCm39)	S366T	probably benign	Het
Efcab7	T	A	4: 99,719,823 (GRCm39)		probably benign	Het
Fcrl5	A	G	3: 87,353,726 (GRCm39)	E357G	probably damaging	Het
Fzr1	C	T	10: 81,203,474 (GRCm39)		probably null	Het
Il12rb2	C	T	6: 67,275,179 (GRCm39)	A649T	probably damaging	Het
Itfg1	C	A	8: 86,464,758 (GRCm39)	V438F	probably damaging	Het
Jaml	A	C	9: 45,012,361 (GRCm39)	I283L	possibly damaging	Het
Kif28	A	T	1: 179,537,024 (GRCm39)	H486Q	probably damaging	Het
Lrch4	A	G	5: 137,636,810 (GRCm39)		probably benign	Het
Lrfn2	A	G	17: 49,378,188 (GRCm39)	E423G	possibly damaging	Het
Lrp4	T	A	2: 91,332,299 (GRCm39)	N1665K	probably benign	Het
Mrpl32	A	T	13: 14,785,165 (GRCm39)	V157E	probably damaging	Het
Mta3	A	G	17: 84,070,417 (GRCm39)	I193V	probably damaging	Het
Myom2	G	A	8: 15,162,018 (GRCm39)	V984I	possibly damaging	Het
Nedd4l	G	A	18: 65,342,790 (GRCm39)	V909I	possibly damaging	Het
Nlrp4a	A	G	7: 26,163,623 (GRCm39)	D930G	probably benign	Het
Or10al5	T	A	17: 38,063,271 (GRCm39)	C175*	probably null	Het
Or5d47	A	T	2: 87,804,066 (GRCm39)	N314K	probably benign	Het
Or7a35	T	C	10: 78,854,022 (GRCm39)	F289L	probably damaging	Het
Ovch2	A	T	7: 107,394,122 (GRCm39)	H110Q	probably damaging	Het
Pcnx3	G	A	19: 5,733,367 (GRCm39)	Q155*	probably null	Het
Pcnx3	C	G	19: 5,733,368 (GRCm39)	L1F	probably null	Het
Pi4k2a	G	A	19: 42,079,131 (GRCm39)	R64Q	probably damaging	Het
Ptpn12	G	A	5: 21,203,690 (GRCm39)	P363S	probably damaging	Het
Ripor3	A	G	2: 167,825,785 (GRCm39)		probably benign	Het
Rpl13-ps3	A	G	14: 59,131,265 (GRCm39)		noncoding transcript	Het
Sap18b	G	A	8: 96,552,191 (GRCm39)	R67H	probably benign	Het
Sdhb	T	C	4: 140,700,311 (GRCm39)	V137A	probably damaging	Het
Shmt2	T	C	10: 127,353,897 (GRCm39)	T459A	probably benign	Het
Siglecg	A	G	7: 43,058,846 (GRCm39)	S200G	possibly damaging	Het
Slc6a15	T	G	10: 103,252,646 (GRCm39)	I603S	probably benign	Het
Smtn	A	T	11: 3,482,865 (GRCm39)		probably null	Het
Spata31d1a	G	A	13: 59,851,702 (GRCm39)	S142L	probably benign	Het
Spopfm2	G	A	3: 94,082,854 (GRCm39)	A319V	possibly damaging	Het
Spopfm2	C	A	3: 94,082,855 (GRCm39)	A319S	possibly damaging	Het
Spopl	C	T	2: 23,427,392 (GRCm39)	R221Q	probably damaging	Het
Strip1	A	G	3: 107,523,135 (GRCm39)	V633A	probably benign	Het
Sun2	A	G	15: 79,612,114 (GRCm39)	S522P	possibly damaging	Het
Tectb	C	G	19: 55,169,431 (GRCm39)		probably benign	Het
Terb2	T	A	2: 122,028,913 (GRCm39)	C157S	probably benign	Het
Themis	T	A	10: 28,739,376 (GRCm39)	N615K	possibly damaging	Het
Tlnrd1	A	T	7: 83,531,488 (GRCm39)	D314E	probably benign	Het
Vmn1r205	T	A	13: 22,776,566 (GRCm39)	T179S	probably benign	Het
Vsig10l	G	A	7: 43,118,185 (GRCm39)	R689H	probably benign	Het
Wt1	G	A	2: 104,993,773 (GRCm39)		probably benign	Het
Zfp423	G	T	8: 88,507,179 (GRCm39)	A1034D	possibly damaging	Het
Zfy2	T	C	Y: 2,107,272 (GRCm39)	E454G	possibly damaging	Het
Zyg11a	G	T	4: 108,053,343 (GRCm39)	Q440K	possibly damaging	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
R1317:Rbm27	UTSW	18	42,457,116 (GRCm39)	splice site	probably benign
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
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'- TGACAGCAGTGTTAAAGATTTCCTG -3'
(R):5'- CCAAGTCTCTGTATGTACCCAAAC -3'

Sequencing Primer
(F):5'- GGCAACAGTATCTAAACTTTCCAG -3'
(R):5'- GCAAGTTCCACTACATAGG -3'

Posted On

2014-10-30