Mutagenetix > Incidental Mutations

Incidental Mutation 'R4616:Rbm27'

351074

Institutional Source

Beutler Lab

Gene Symbol

Rbm27

Ensembl Gene

ENSMUSG00000024491

Gene Name

RNA binding motif protein 27

Synonyms

Psc1

MMRRC Submission

041827-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4616 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

42275353-42341542 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 42301775 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 301 (D301E)

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: D301E

PolyPhen 2 Score 0.964 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000041688
Gene: ENSMUSG00000024491
AA Change: D301E

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: D301E

PolyPhen 2 Score 0.964 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000089540
Gene: ENSMUSG00000024491
AA Change: D301E

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

Meta Mutation Damage Score

0.4814

Coding Region Coverage

1x: 99.4%
3x: 98.7%
10x: 97.4%
20x: 95.6%

Validation Efficiency

100% (64/64)

Allele List at MGI

Other mutations in this stock

Total: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2010111I01Rik	G	A	13: 63,298,751	E123K	probably damaging	Het
4931417E11Rik	A	G	6: 73,469,269	V99A	probably benign	Het
Acod1	C	T	14: 103,055,345	T435M	probably benign	Het
Adgrf5	T	C	17: 43,452,440	F1078L	probably benign	Het
Adh6a	A	T	3: 138,324,947	N110I	probably damaging	Het
Aldh16a1	T	C	7: 45,148,788		probably benign	Het
Arhgef17	A	G	7: 100,882,485	F1302S	probably damaging	Het
Bcl2a1a	C	T	9: 88,957,453	R135W	probably damaging	Het
Bpifa6	T	C	2: 153,982,988	S28P	possibly damaging	Het
C9	A	G	15: 6,491,463	D51G	probably damaging	Het
Cfb	T	A	17: 34,859,068	H962L	probably benign	Het
Chn2	G	A	6: 54,290,403	M292I	probably damaging	Het
Clec16a	T	A	16: 10,644,883		probably null	Het
Cyp1a1	T	C	9: 57,701,756	S307P	probably benign	Het
Dsg3	T	C	18: 20,531,559	V538A	probably benign	Het
Erbb3	G	A	10: 128,572,770	Q815*	probably null	Het
Fam90a1a	C	A	8: 21,963,846	Q406K	possibly damaging	Het
Frmd3	T	C	4: 74,187,872	V585A	probably benign	Het
Gm7102	C	T	19: 61,175,926	G24R	unknown	Het
Gm8214	T	C	1: 183,681,897		noncoding transcript	Het
Gpld1	G	A	13: 24,984,816	G771D	probably damaging	Het
Gpr20	T	C	15: 73,695,736	N268S	probably benign	Het
Gria2	A	T	3: 80,706,897	I612N	probably damaging	Het
Ifit1bl1	T	C	19: 34,594,610	E149G	probably damaging	Het
Ighv1-82	T	C	12: 115,952,660	T77A	probably benign	Het
Ighv2-9	G	T	12: 113,879,219	T76K	probably damaging	Het
Igkv6-13	A	T	6: 70,458,035	M1K	probably null	Het
Igkv8-21	A	T	6: 70,315,157	S34T	probably benign	Het
Itpr1	A	G	6: 108,481,223	N1985D	probably damaging	Het
Lama3	T	C	18: 12,504,397		probably null	Het
Lamc2	T	C	1: 153,166,169	Y73C	probably damaging	Het
Maff	A	G	15: 79,357,698	D105G	probably damaging	Het
Mep1a	C	T	17: 43,486,241	V312M	possibly damaging	Het
Mfap4	C	A	11: 61,485,509		probably benign	Het
Mrgbp	A	T	2: 180,585,314		silent	Het
Mtmr4	T	C	11: 87,610,935	L548S	probably damaging	Het
Myo7b	T	C	18: 32,003,487		probably null	Het
Myo9a	T	C	9: 59,821,649	I596T	probably damaging	Het
Olfr38	G	T	6: 42,762,418	R122L	probably benign	Het
Olfr594	C	T	7: 103,220,422	R235*	probably null	Het
Pcsk5	T	G	19: 17,560,750	Q904H	probably benign	Het
Pdzrn3	G	T	6: 101,152,009	H565Q	probably damaging	Het
Phkg2	C	T	7: 127,577,620	R61W	probably damaging	Het
Pkd2l1	C	A	19: 44,154,134	A490S	probably damaging	Het
Pomgnt1	T	A	4: 116,154,890	I337N	probably damaging	Het
Psmd3	T	C	11: 98,682,926	V66A	probably benign	Het
Ptger3	T	C	3: 157,567,294	S93P	probably damaging	Het
Rdh16	A	T	10: 127,801,513		probably null	Het
Slc35a5	A	T	16: 45,144,292	F193I	probably benign	Het
Slc4a4	A	G	5: 89,038,561	K167R	probably damaging	Het
Sort1	A	T	3: 108,355,541	T772S	possibly damaging	Het
Sptbn5	T	A	2: 120,048,757		noncoding transcript	Het
Stard5	G	T	7: 83,633,281		probably benign	Het
Tbc1d22a	A	G	15: 86,235,685	T61A	probably damaging	Het
Tox2	T	C	2: 163,320,647	L479P	probably damaging	Het
Usp53	A	T	3: 122,959,120	M80K	probably damaging	Het
Vmn1r209	A	T	13: 22,805,965	L185Q	probably damaging	Het
Vmn2r59	A	G	7: 42,012,438	I651T	probably benign	Het
Vsig1	G	T	X: 140,926,386	A95S	probably benign	Het
Zfhx4	T	C	3: 5,413,067	S3556P	possibly 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
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
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

Predicted Primers

PCR Primer
(F):5'- TGCCTCTACTTCAAGGCTATGTG -3'
(R):5'- CTTGAGGAACAGGAAGTCTCATAC -3'

Sequencing Primer
(F):5'- CAAGGCTATGTGGTCATTAATAGG -3'
(R):5'- TCATACTATGACCAGGGCCTG -3'

Posted On

2015-10-08