Mutagenetix > Incidental Mutation

Incidental Mutation 'R9554:Dcp1a'

720682

Institutional Source

Beutler Lab

Gene Symbol

Dcp1a

Ensembl Gene

ENSMUSG00000021962

Gene Name

decapping mRNA 1A

Synonyms

SMIF, Mitc1, 1110066A22Rik, D14Ertd817e, 4930568L04Rik

MMRRC Submission

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.262) question?

Stock #

R9554 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

30201613-30249013 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 30201691 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Arginine at position 38 (Q38R)

Ref Sequence

ENSEMBL: ENSMUSP00000022535 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000022535] [ENSMUST00000112250] [ENSMUST00000225196] [ENSMUST00000225286]

AlphaFold

Q91YD3

Predicted Effect

probably benign
Transcript: ENSMUST00000022535
AA Change: Q38R

PolyPhen 2 Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)

SMART Domains

Protein: ENSMUSP00000022535
Gene: ENSMUSG00000021962
AA Change: Q38R

Domain	Start	End	E-Value	Type
Pfam:DCP1	28	144	1.8e-44	PFAM
low complexity region	327	343	N/A	INTRINSIC
low complexity region	457	472	N/A	INTRINSIC
Pfam:mRNA_decap_C	559	601	6.3e-22	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000112250

SMART Domains

Protein: ENSMUSP00000107869
Gene: ENSMUSG00000015968

Domain	Start	End	E-Value	Type
low complexity region	76	89	N/A	INTRINSIC
Pfam:Ion_trans	147	439	5.6e-72	PFAM
low complexity region	473	482	N/A	INTRINSIC
low complexity region	525	539	N/A	INTRINSIC
Pfam:Ion_trans	544	784	2e-56	PFAM
low complexity region	788	803	N/A	INTRINSIC
low complexity region	841	862	N/A	INTRINSIC
Pfam:Ion_trans	907	1185	2.6e-63	PFAM
Pfam:Ion_trans	1226	1482	1.7e-70	PFAM
Pfam:PKD_channel	1306	1477	1.2e-9	PFAM
Pfam:GPHH	1484	1553	2.3e-38	PFAM
Ca_chan_IQ	1605	1639	5.05e-16	SMART
Pfam:CAC1F_C	1649	2165	1.1e-68	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000225196
AA Change: Q38R

PolyPhen 2 Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)

Predicted Effect

probably benign
Transcript: ENSMUST00000225286
AA Change: Q19R

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.9%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Decapping is a key step in general and regulated mRNA decay. The protein encoded by this gene is a decapping enzyme. This protein and another decapping enzyme form a decapping complex, which interacts with the nonsense-mediated decay factor hUpf1 and may be recruited to mRNAs containing premature termination codons. This protein also participates in the TGF-beta signaling pathway. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Feb 2014]

Allele List at MGI

Other mutations in this stock

Total: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca9	T	C	11: 110,029,107 (GRCm39)	E817G	probably benign	Het
Abhd12b	A	G	12: 70,215,988 (GRCm39)	T182A	probably benign	Het
Allc	A	T	12: 28,607,414 (GRCm39)	C279*	probably null	Het
Ang	A	G	14: 51,338,976 (GRCm39)	D39G	probably damaging	Het
Atp8b3	G	A	10: 80,360,197 (GRCm39)	T958M	probably damaging	Het
Ccn4	G	A	15: 66,784,900 (GRCm39)	R191K	probably benign	Het
Ccnyl1	A	G	1: 64,753,750 (GRCm39)	Y187C	probably damaging	Het
Cfhr4	A	T	1: 139,668,169 (GRCm39)	S321R	probably benign	Het
Chd3	A	T	11: 69,251,015 (GRCm39)	W616R	probably damaging	Het
Cyp17a1	C	T	19: 46,657,165 (GRCm39)	R361H	probably damaging	Het
Cyp2t4	G	A	7: 26,854,717 (GRCm39)	V66M	possibly damaging	Het
Ddias	T	C	7: 92,507,560 (GRCm39)	N785S	probably benign	Het
Depdc5	A	G	5: 33,122,076 (GRCm39)	N1133S	probably benign	Het
Dhx8	T	A	11: 101,645,614 (GRCm39)	Y877*	probably null	Het
Dlk1	G	A	12: 109,420,889 (GRCm39)	V15I	unknown	Het
Fam120b	G	A	17: 15,626,020 (GRCm39)	A458T	possibly damaging	Het
Fgd4	G	A	16: 16,308,353 (GRCm39)	T9I	probably benign	Het
Fhip1b	C	A	7: 105,038,915 (GRCm39)	R108L	probably damaging	Het
Gfpt1	C	T	6: 87,062,323 (GRCm39)	R561W	probably damaging	Het
Gm5773	A	G	3: 93,680,340 (GRCm39)	D4G	probably benign	Het
Helz2	T	A	2: 180,882,470 (GRCm39)	T108S	probably damaging	Het
Hivep1	G	A	13: 42,308,251 (GRCm39)	D164N	possibly damaging	Het
Kif15	G	T	9: 122,828,585 (GRCm39)	L902F	probably damaging	Het
Lrp2	T	A	2: 69,261,497 (GRCm39)	R4481S	probably damaging	Het
Mcm3ap	T	C	10: 76,332,310 (GRCm39)	V1209A	probably damaging	Het
Mkrn1	C	T	6: 39,376,838 (GRCm39)	R377H	probably benign	Het
Ms4a4a	G	A	19: 11,367,708 (GRCm39)	M191I	probably benign	Het
Myh11	T	A	16: 14,018,580 (GRCm39)	N1922I		Het
Nbeal1	C	T	1: 60,290,287 (GRCm39)	Q998*	probably null	Het
Neil3	C	A	8: 54,061,770 (GRCm39)	G204C	probably damaging	Het
Nsmce1	T	C	7: 125,066,994 (GRCm39)	E262G	possibly damaging	Het
Oc90	G	A	15: 65,761,437 (GRCm39)	P194S	probably benign	Het
Oplah	A	G	15: 76,193,787 (GRCm39)	S57P	probably benign	Het
Or10u4	A	T	10: 129,802,181 (GRCm39)	F123L	probably benign	Het
Or1x6	T	A	11: 50,939,223 (GRCm39)	Y96*	probably null	Het
Or2aj4	T	A	16: 19,384,722 (GRCm39)	I304F	possibly damaging	Het
Or4a73	C	A	2: 89,420,710 (GRCm39)	V250F	probably damaging	Het
Or4d5	T	A	9: 40,012,160 (GRCm39)	M209L	probably benign	Het
Or51g1	A	T	7: 102,633,774 (GRCm39)	I199N	probably damaging	Het
Or5p70	A	G	7: 107,994,365 (GRCm39)	T13A	probably benign	Het
Or8g28	A	C	9: 39,169,756 (GRCm39)	F71V	possibly damaging	Het
Pdzd8	A	T	19: 59,333,574 (GRCm39)	L149Q	probably damaging	Het
Pid1	A	G	1: 84,137,032 (GRCm39)	V33A	probably benign	Het
Polr3gl	A	G	3: 96,489,037 (GRCm39)	V60A	possibly damaging	Het
Prdm1	A	G	10: 44,317,242 (GRCm39)	V527A	probably benign	Het
Sbf2	T	C	7: 110,040,671 (GRCm39)	I385M	probably damaging	Het
Setbp1	C	T	18: 78,826,599 (GRCm39)	S1338N	probably benign	Het
Sh2b2	T	C	5: 136,253,006 (GRCm39)	T389A	probably benign	Het
Skint9	A	T	4: 112,248,915 (GRCm39)	M171K	probably benign	Het
Slx4	C	A	16: 3,805,820 (GRCm39)	M577I	probably benign	Het
Srcap	T	C	7: 127,151,577 (GRCm39)	S2092P	probably damaging	Het
Traf6	T	A	2: 101,518,953 (GRCm39)	H147Q	probably benign	Het
Ttn	T	A	2: 76,547,693 (GRCm39)	E32159V	possibly damaging	Het
Ubn1	T	C	16: 4,888,492 (GRCm39)	S154P	unknown	Het
Uchl1	T	A	5: 66,833,649 (GRCm39)	M6K	probably damaging	Het
Vmn1r193	A	T	13: 22,403,989 (GRCm39)	M1K	probably null	Het
Zfp429	T	A	13: 67,538,531 (GRCm39)	K304N	probably benign	Het
Zfp607b	T	A	7: 27,402,464 (GRCm39)	S307T	probably damaging	Het

Other mutations in Dcp1a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01653:Dcp1a	APN	14	30,227,528 (GRCm39)	missense	possibly damaging	0.52
IGL02698:Dcp1a	APN	14	30,227,499 (GRCm39)	splice site	probably benign
IGL02799:Dcp1a	UTSW	14	30,241,636 (GRCm39)	critical splice donor site	probably null
R0240:Dcp1a	UTSW	14	30,206,551 (GRCm39)	splice site	probably benign
R0387:Dcp1a	UTSW	14	30,241,636 (GRCm39)	critical splice donor site	probably null
R0646:Dcp1a	UTSW	14	30,224,842 (GRCm39)	missense	probably damaging	1.00
R1781:Dcp1a	UTSW	14	30,235,032 (GRCm39)	missense	probably benign	0.37
R1843:Dcp1a	UTSW	14	30,240,940 (GRCm39)	missense	probably damaging	0.99
R2111:Dcp1a	UTSW	14	30,241,327 (GRCm39)	missense	probably benign	0.00
R3176:Dcp1a	UTSW	14	30,227,499 (GRCm39)	splice site	probably benign
R4948:Dcp1a	UTSW	14	30,201,724 (GRCm39)	missense	probably damaging	1.00
R5541:Dcp1a	UTSW	14	30,224,796 (GRCm39)	missense	probably damaging	1.00
R6178:Dcp1a	UTSW	14	30,245,261 (GRCm39)	makesense	probably null
R7767:Dcp1a	UTSW	14	30,201,775 (GRCm39)	critical splice donor site	probably null
R7818:Dcp1a	UTSW	14	30,201,678 (GRCm39)	missense	probably damaging	0.99
R8248:Dcp1a	UTSW	14	30,244,883 (GRCm39)	missense	possibly damaging	0.87
R8248:Dcp1a	UTSW	14	30,201,555 (GRCm39)	intron	probably benign
R8250:Dcp1a	UTSW	14	30,244,883 (GRCm39)	missense	possibly damaging	0.87
R8271:Dcp1a	UTSW	14	30,244,883 (GRCm39)	missense	possibly damaging	0.87
R8297:Dcp1a	UTSW	14	30,244,883 (GRCm39)	missense	possibly damaging	0.87
R8302:Dcp1a	UTSW	14	30,244,883 (GRCm39)	missense	possibly damaging	0.87
R8326:Dcp1a	UTSW	14	30,241,527 (GRCm39)	nonsense	probably null
R8333:Dcp1a	UTSW	14	30,244,883 (GRCm39)	missense	possibly damaging	0.87
R8818:Dcp1a	UTSW	14	30,240,899 (GRCm39)	missense	possibly damaging	0.64
R9599:Dcp1a	UTSW	14	30,241,497 (GRCm39)	missense	probably benign
R9641:Dcp1a	UTSW	14	30,241,132 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TTAGCTGAAGTACCACGCTCG -3'
(R):5'- AAGACTGATCCTGCCTCGTTTC -3'

Sequencing Primer
(F):5'- TGAAGTACCACGCTCGGCAAG -3'
(R):5'- GGTCACCTCTTTGGCTCCGG -3'

Posted On

2022-08-09