Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL01064:Rbm27'

53147

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 #

IGL01064

Quality Score

Status

Chromosome

Chromosomal Location

42275353-42341542 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 42319814 bp

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 536 (V536A)

Ref Sequence

ENSEMBL: ENSMUSP00000041688 (fasta)

Gene Model

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000046972
AA Change: V536A

PolyPhen 2 Score 0.823 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000041688
Gene: ENSMUSG00000024491
AA Change: V536A

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

possibly damaging
Transcript: ENSMUST00000091920
AA Change: V481A

PolyPhen 2 Score 0.790 (Sensitivity: 0.85; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000089540
Gene: ENSMUSG00000024491
AA Change: V481A

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

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 36 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca13	A	T	11: 9,483,855	T4137S	probably benign	Het
Abcb1a	T	C	5: 8,732,388	Y924H	possibly damaging	Het
Ash1l	T	G	3: 89,072,484	C2772G	probably damaging	Het
Cfap206	C	T	4: 34,721,562	S162N	probably damaging	Het
Cpne6	T	C	14: 55,512,730	F106S	probably damaging	Het
Cysltr1	A	T	X: 106,578,736	I48N	probably damaging	Het
Dsg1a	A	T	18: 20,340,206	I779F	probably damaging	Het
Fpr-rs4	T	A	17: 18,022,517	L262H	probably damaging	Het
Gart	G	A	16: 91,623,007	R871C	probably damaging	Het
Get4	C	T	5: 139,252,522	R20C	probably damaging	Het
Gm13030	G	A	4: 138,873,558		probably benign	Het
Gm17654	A	T	14: 43,578,998	H49Q	unknown	Het
Gpnmb	A	G	6: 49,055,659	I506V	probably benign	Het
Ist1	T	C	8: 109,682,611	I86V	probably damaging	Het
Kcnip1	C	T	11: 33,633,192	D198N	probably damaging	Het
Kif5c	A	G	2: 49,694,816	I184V	possibly damaging	Het
Mink1	A	T	11: 70,603,481	M236L	probably benign	Het
Muc5ac	A	T	7: 141,807,473	N1507I	probably benign	Het
Nrxn2	G	T	19: 6,517,053	E1326D	probably damaging	Het
Olfr1329	A	T	4: 118,916,894	M191K	possibly damaging	Het
Olfr1469	T	C	19: 13,411,226	I219T	probably benign	Het
Olfr635	A	T	7: 103,979,792	Y200F	probably benign	Het
Patj	T	C	4: 98,496,973	S326P	possibly damaging	Het
Pdha2	T	C	3: 141,211,015	H244R	possibly damaging	Het
Pkhd1	C	T	1: 20,534,530		probably benign	Het
Ptk7	A	T	17: 46,573,566	L746*	probably null	Het
Rad54b	G	A	4: 11,604,866	G438D	probably damaging	Het
Rundc3b	T	A	5: 8,569,553	M135L	probably damaging	Het
Sorcs2	T	C	5: 36,065,352	Y353C	probably damaging	Het
Srcap	T	C	7: 127,559,892		probably benign	Het
Sytl5	A	G	X: 9,905,595	H66R	probably benign	Het
Tlr7	T	A	X: 167,308,211	E93V	probably damaging	Het
Tmem156	A	G	5: 65,079,984	L76S	probably damaging	Het
Tmem246	C	T	4: 49,586,860	V103M	possibly damaging	Het
Tomm70a	T	C	16: 57,152,612	F571S	probably damaging	Het
Trmt10b	A	G	4: 45,314,347	Y261C	possibly damaging	Het

Other mutations in Rbm27

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
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
IGL03372:Rbm27	APN	18	42305716	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
R7987:Rbm27	UTSW	18	42332856	missense	probably damaging	1.00
R8177:Rbm27	UTSW	18	42324110	missense	probably damaging	1.00
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

2013-06-21