Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL01348:Dcp1b'

75186

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Dcp1b

Ensembl Gene

ENSMUSG00000041477

Gene Name

decapping mRNA 1B

Synonyms

B930050E02Rik

Accession Numbers

Is this an essential gene?

Possibly non essential (E-score: 0.499) question?

Stock #

IGL01348

Quality Score

Status

Chromosome

Chromosomal Location

119175253-119221616 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 119183718 bp

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 87 (I87T)

Ref Sequence

ENSEMBL: ENSMUSP00000108397 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000073909] [ENSMUST00000112777] [ENSMUST00000186889] [ENSMUST00000187474] [ENSMUST00000187940] [ENSMUST00000190285]

Predicted Effect

probably damaging
Transcript: ENSMUST00000073909
AA Change: I87T

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000073568
Gene: ENSMUSG00000041477
AA Change: I87T

Domain	Start	End	E-Value	Type
low complexity region	2	8	N/A	INTRINSIC
Pfam:DCP1	10	131	1.3e-53	PFAM
low complexity region	250	260	N/A	INTRINSIC
low complexity region	451	462	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000112777
AA Change: I87T

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000108397
Gene: ENSMUSG00000041477
AA Change: I87T

Domain	Start	End	E-Value	Type
low complexity region	2	8	N/A	INTRINSIC
Pfam:DCP1	13	129	3e-46	PFAM
low complexity region	250	260	N/A	INTRINSIC
low complexity region	451	462	N/A	INTRINSIC
low complexity region	515	526	N/A	INTRINSIC
Pfam:mRNA_decap_C	536	578	2.1e-20	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000186889

SMART Domains

Protein: ENSMUSP00000140056
Gene: ENSMUSG00000051331

Domain	Start	End	E-Value	Type
low complexity region	56	69	N/A	INTRINSIC
Pfam:Ion_trans	191	434	1.5e-59	PFAM
PDB:4DEY\|B	435	533	5e-63	PDB
low complexity region	534	548	N/A	INTRINSIC
Pfam:Ion_trans	588	782	5.6e-46	PFAM
low complexity region	797	807	N/A	INTRINSIC
low complexity region	827	839	N/A	INTRINSIC
low complexity region	875	882	N/A	INTRINSIC
transmembrane domain	926	948	N/A	INTRINSIC
Pfam:Ion_trans	965	1195	2.7e-51	PFAM
Pfam:PKD_channel	1261	1512	1.3e-9	PFAM
Pfam:Ion_trans	1283	1505	1.7e-69	PFAM
Blast:EFh	1526	1554	5e-9	BLAST
Ca_chan_IQ	1640	1674	3.28e-15	SMART
low complexity region	1794	1804	N/A	INTRINSIC
low complexity region	1974	1988	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000187474

SMART Domains

Protein: ENSMUSP00000140961
Gene: ENSMUSG00000051331

Domain	Start	End	E-Value	Type
low complexity region	56	69	N/A	INTRINSIC
Pfam:Ion_trans	191	434	7.6e-60	PFAM
PDB:4DEY\|B	435	533	4e-63	PDB
low complexity region	534	548	N/A	INTRINSIC
Pfam:Ion_trans	588	782	2.8e-46	PFAM
low complexity region	797	807	N/A	INTRINSIC
low complexity region	827	839	N/A	INTRINSIC
low complexity region	875	882	N/A	INTRINSIC
transmembrane domain	926	948	N/A	INTRINSIC
Pfam:Ion_trans	965	1195	5.6e-51	PFAM
Pfam:PKD_channel	1261	1512	7.3e-10	PFAM
Pfam:Ion_trans	1283	1505	8.3e-70	PFAM
Blast:EFh	1526	1554	5e-9	BLAST
Ca_chan_IQ	1640	1674	3.28e-15	SMART
low complexity region	1794	1804	N/A	INTRINSIC
low complexity region	1974	1988	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000187940

SMART Domains

Protein: ENSMUSP00000141033
Gene: ENSMUSG00000051331

Domain	Start	End	E-Value	Type
low complexity region	56	69	N/A	INTRINSIC
Pfam:Ion_trans	191	434	7.6e-60	PFAM
PDB:4DEY\|B	435	533	4e-63	PDB
low complexity region	534	548	N/A	INTRINSIC
Pfam:Ion_trans	588	782	2.8e-46	PFAM
low complexity region	797	807	N/A	INTRINSIC
low complexity region	827	839	N/A	INTRINSIC
low complexity region	875	882	N/A	INTRINSIC
transmembrane domain	926	948	N/A	INTRINSIC
Pfam:Ion_trans	965	1195	5.6e-51	PFAM
Pfam:PKD_channel	1260	1512	5.8e-11	PFAM
Pfam:Ion_trans	1283	1505	1.2e-66	PFAM
Blast:EFh	1526	1554	5e-9	BLAST
Ca_chan_IQ	1640	1674	3.28e-15	SMART
low complexity region	1794	1804	N/A	INTRINSIC
low complexity region	1974	1988	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000189057

Predicted Effect

probably benign
Transcript: ENSMUST00000190285

SMART Domains

Protein: ENSMUSP00000141015
Gene: ENSMUSG00000051331

Domain	Start	End	E-Value	Type
low complexity region	56	69	N/A	INTRINSIC
transmembrane domain	155	177	N/A	INTRINSIC
Pfam:Ion_trans	191	434	4e-58	PFAM
PDB:4DEY\|B	435	558	2e-57	PDB
low complexity region	559	573	N/A	INTRINSIC
transmembrane domain	579	598	N/A	INTRINSIC
Pfam:Ion_trans	613	807	1.5e-44	PFAM
low complexity region	822	832	N/A	INTRINSIC
low complexity region	852	864	N/A	INTRINSIC
low complexity region	900	907	N/A	INTRINSIC
transmembrane domain	951	973	N/A	INTRINSIC
Pfam:Ion_trans	990	1220	3e-49	PFAM
Pfam:PKD_channel	1285	1537	1.4e-7	PFAM
Pfam:Ion_trans	1308	1530	4.4e-68	PFAM
Blast:EFh	1551	1579	5e-9	BLAST
Ca_chan_IQ	1665	1699	2.5e-19	SMART
low complexity region	1819	1829	N/A	INTRINSIC
low complexity region	1999	2013	N/A	INTRINSIC

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of a family of proteins that function in removing the 5' cap from mRNAs, which is a step in regulated mRNA decay. This protein localizes to cytoplasmic foci which are the site of mRNA breakdown and turnover. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2016]

Allele List at MGI

Other mutations in this stock

Total: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700093K21Rik	T	C	11: 23,517,213	E140G	probably null	Het
8030462N17Rik	A	G	18: 77,673,917	I233T	possibly damaging	Het
Adgrl3	A	G	5: 81,726,723	T956A	probably damaging	Het
Aff4	G	A	11: 53,402,500	S772N	probably benign	Het
Atad5	A	G	11: 80,095,564	I492M	probably benign	Het
Atf4	T	C	15: 80,256,527		probably benign	Het
Atrip	A	G	9: 109,069,295	S219P	probably damaging	Het
Axl	G	A	7: 25,763,309	R656W	probably damaging	Het
B3gnt3	T	A	8: 71,693,004	Q240L	possibly damaging	Het
Baz2b	A	G	2: 59,933,687	V915A	possibly damaging	Het
C330027C09Rik	A	G	16: 49,013,188	I551V	probably damaging	Het
Cacna1s	T	C	1: 136,075,152	V329A	possibly damaging	Het
Celf3	C	A	3: 94,488,228	Q388K	possibly damaging	Het
Ciita	T	C	16: 10,510,727	S292P	probably damaging	Het
Clec18a	G	A	8: 111,071,613	A423V	probably damaging	Het
Clnk	T	C	5: 38,713,207	D336G	probably damaging	Het
Csmd1	T	G	8: 15,910,596	H3273P	probably damaging	Het
Cyp3a11	A	T	5: 145,869,007	V157E	possibly damaging	Het
Ell3	A	G	2: 121,441,796	S66P	probably damaging	Het
Ercc4	T	C	16: 13,132,934	F631L	probably damaging	Het
Etl4	T	A	2: 20,806,973	V1289D	probably damaging	Het
Gm16372	T	C	12: 24,493,607		probably benign	Het
Gm4553	C	T	7: 142,165,172	C173Y	unknown	Het
Gm8989	T	A	7: 106,329,835	H285L	unknown	Het
Gykl1	A	T	18: 52,694,736	I339F	possibly damaging	Het
H60b	A	C	10: 22,286,179	N101T	possibly damaging	Het
Inpp4a	C	T	1: 37,388,905	T407I	probably damaging	Het
Itga11	A	G	9: 62,744,579	N331S	possibly damaging	Het
Kbtbd6	T	A	14: 79,453,343	C430S	probably damaging	Het
Mfsd4a	T	C	1: 132,067,826	S1G	probably null	Het
Mybpc2	C	A	7: 44,515,928	M372I	probably benign	Het
Myh10	A	T	11: 68,811,803	T1768S	probably benign	Het
Myh8	A	G	11: 67,297,780	K1063E	probably damaging	Het
Nat8f5	A	T	6: 85,817,880	F33I	probably damaging	Het
Nbeal2	T	G	9: 110,629,146	N2119T	probably damaging	Het
Nek11	C	T	9: 105,392,913	G37S	probably damaging	Het
Npc1l1	T	C	11: 6,227,974	N479D	probably damaging	Het
Nup160	A	G	2: 90,700,428	T477A	probably benign	Het
Olfr121	A	T	17: 37,752,286	H144L	probably benign	Het
Olfr186	T	A	16: 59,027,794	T38S	probably damaging	Het
Pcgf2	A	G	11: 97,690,240	V259A	probably benign	Het
Pmm1	A	G	15: 81,952,018	V131A	probably damaging	Het
Polr3a	A	T	14: 24,461,763	D908E	probably damaging	Het
Psg29	A	C	7: 17,210,673	R369S	probably benign	Het
Ptprq	T	A	10: 107,711,904	D211V	probably damaging	Het
Rdh9	A	G	10: 127,776,792	N103S	probably benign	Het
Riok3	T	C	18: 12,152,963		probably benign	Het
Serpinb1b	A	T	13: 33,091,415	Q174H	probably benign	Het
Sgip1	G	T	4: 102,915,156		probably null	Het
Sgpp1	A	T	12: 75,734,993	Y191N	probably damaging	Het
Slc12a1	A	G	2: 125,194,131	N641S	probably damaging	Het
Slc5a4b	T	C	10: 76,070,588	N399S	probably damaging	Het
Snx16	C	T	3: 10,419,159	A335T	probably damaging	Het
Sos2	C	T	12: 69,618,092	R355H	probably damaging	Het
Szt2	A	G	4: 118,393,624		probably benign	Het
Tbcd	T	A	11: 121,497,076	D344E	probably benign	Het
Tek	C	A	4: 94,859,658	Q988K	probably damaging	Het
Tgm6	A	G	2: 130,137,379	D143G	probably damaging	Het
Tpx2	A	G	2: 152,893,591	K713R	probably damaging	Het
Trappc9	T	A	15: 72,937,009	E556V	possibly damaging	Het
Trpm6	A	T	19: 18,877,651	K1891N	probably damaging	Het
Trpv1	G	A	11: 73,238,252		probably null	Het
Usp37	T	C	1: 74,461,702	S567G	probably damaging	Het
Zfp773	A	T	7: 7,135,315	V107D	possibly damaging	Het

Other mutations in Dcp1b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01296:Dcp1b	APN	6	119215358	missense	probably damaging	0.96
IGL01320:Dcp1b	APN	6	119215075	missense	probably benign	0.29
IGL01635:Dcp1b	APN	6	119206537	missense	probably damaging	1.00
IGL02888:Dcp1b	APN	6	119220087	utr 3 prime	probably benign
IGL03280:Dcp1b	APN	6	119180058	intron	probably benign
R1672:Dcp1b	UTSW	6	119217911	missense	probably benign
R2395:Dcp1b	UTSW	6	119215064	missense	probably benign
R2421:Dcp1b	UTSW	6	119215266	missense	probably benign	0.28
R2512:Dcp1b	UTSW	6	119206512	missense	possibly damaging	0.69
R2870:Dcp1b	UTSW	6	119214774	missense	probably benign
R2870:Dcp1b	UTSW	6	119214774	missense	probably benign
R4450:Dcp1b	UTSW	6	119206476	missense	probably benign	0.01
R5394:Dcp1b	UTSW	6	119175367	missense	probably damaging	1.00
R5688:Dcp1b	UTSW	6	119217911	missense	probably benign
R7734:Dcp1b	UTSW	6	119215283	missense	probably benign	0.00
R7752:Dcp1b	UTSW	6	119175357	missense	possibly damaging	0.64
R7847:Dcp1b	UTSW	6	119215295	missense	probably benign
R8274:Dcp1b	UTSW	6	119183651	missense	probably damaging	1.00
R8325:Dcp1b	UTSW	6	119215436	nonsense	probably null

Posted On

2013-10-07