Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02952:Doc2g'

364951

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Doc2g

Ensembl Gene

ENSMUSG00000024871

Gene Name

double C2, gamma

Synonyms

D830013O18Rik

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.085) question?

Stock #

IGL02952

Quality Score

Status

Chromosome

Chromosomal Location

4053385-4057005 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 4056719 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glycine to Aspartic acid at position 345 (G345D)

Ref Sequence

ENSEMBL: ENSMUSP00000025806 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000025802] [ENSMUST00000025806] [ENSMUST00000042497] [ENSMUST00000122924] [ENSMUST00000128787] [ENSMUST00000129706] [ENSMUST00000155405] [ENSMUST00000136921] [ENSMUST00000133474] [ENSMUST00000134479]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000025802

SMART Domains

Protein: ENSMUSP00000025802
Gene: ENSMUSG00000110949

Domain	Start	End	E-Value	Type
Pfam:NUDIX	26	160	2.8e-14	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000025806
AA Change: G345D

PolyPhen 2 Score 0.826 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000025806
Gene: ENSMUSG00000024871
AA Change: G345D

Domain	Start	End	E-Value	Type
C2	99	206	1.14e-10	SMART
low complexity region	231	243	N/A	INTRINSIC
C2	259	373	5.14e-18	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000042497

SMART Domains

Protein: ENSMUSP00000042967
Gene: ENSMUSG00000037916

Domain	Start	End	E-Value	Type
Pfam:Complex1_51K	80	252	2.4e-52	PFAM
Pfam:SLBB	275	327	5.1e-10	PFAM
NADH_4Fe-4S	364	409	1.05e-22	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000122924

SMART Domains

Protein: ENSMUSP00000122531
Gene: ENSMUSG00000110949

Domain	Start	End	E-Value	Type
Pfam:NUDIX	19	117	3.1e-12	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000127016

Predicted Effect

probably benign
Transcript: ENSMUST00000128787

SMART Domains

Protein: ENSMUSP00000123069
Gene: ENSMUSG00000037916

Domain	Start	End	E-Value	Type
Pfam:Complex1_51K	71	243	1.6e-52	PFAM
Pfam:SLBB	266	318	8.6e-10	PFAM
NADH_4Fe-4S	355	400	1.05e-22	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000129706

SMART Domains

Protein: ENSMUSP00000115653
Gene: ENSMUSG00000037916

Domain	Start	End	E-Value	Type
Pfam:Complex1_51K	80	115	1.4e-9	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000147806

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000138917

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000132747

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000148283

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000134049

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000150852

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000149482

Predicted Effect

probably benign
Transcript: ENSMUST00000155405

SMART Domains

Protein: ENSMUSP00000119218
Gene: ENSMUSG00000024869

Domain	Start	End	E-Value	Type
Pfam:NUDIX	29	159	8.1e-15	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000136921

SMART Domains

Protein: ENSMUSP00000123680
Gene: ENSMUSG00000037916

Domain	Start	End	E-Value	Type
Pfam:Complex1_51K	1	114	6.7e-37	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000133474

SMART Domains

Protein: ENSMUSP00000120223
Gene: ENSMUSG00000037916

Domain	Start	End	E-Value	Type
Pfam:Complex1_51K	1	146	3.3e-48	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000134479

SMART Domains

Protein: ENSMUSP00000121915
Gene: ENSMUSG00000037916

Domain	Start	End	E-Value	Type
Pfam:Complex1_51K	1	173	3.6e-53	PFAM
Pfam:SLBB	196	248	5.2e-11	PFAM
NADH_4Fe-4S	285	330	1.05e-22	SMART

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 40 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A2m	A	T	6: 121,654,984 (GRCm39)	D1436V	probably damaging	Het
Abca7	G	T	10: 79,843,242 (GRCm39)	R1239L	probably damaging	Het
Acp2	T	C	2: 91,038,788 (GRCm39)		probably benign	Het
Adamts4	A	G	1: 171,078,917 (GRCm39)	N179S	probably damaging	Het
Adgrv1	T	C	13: 81,581,755 (GRCm39)	D4763G	probably benign	Het
Atp11b	T	C	3: 35,882,844 (GRCm39)	V633A	probably damaging	Het
Cadm2	A	T	16: 66,461,338 (GRCm39)	I342K	probably damaging	Het
Capn10	T	C	1: 92,872,896 (GRCm39)	S541P	probably damaging	Het
Ccnf	A	G	17: 24,450,299 (GRCm39)	L462P	possibly damaging	Het
Cdc27	T	C	11: 104,408,290 (GRCm39)	Y546C	probably damaging	Het
Cep120	G	T	18: 53,816,300 (GRCm39)		probably benign	Het
Cetn2	T	C	X: 71,957,808 (GRCm39)		probably null	Het
Cyp1a1	C	T	9: 57,609,993 (GRCm39)	S469L	probably benign	Het
Dnah17	G	A	11: 117,979,094 (GRCm39)	T1766I	probably benign	Het
Dock4	T	C	12: 40,760,902 (GRCm39)		probably null	Het
Dop1a	T	A	9: 86,414,975 (GRCm39)		probably benign	Het
Emilin2	C	A	17: 71,587,816 (GRCm39)	V99F	probably damaging	Het
Exoc8	A	G	8: 125,624,275 (GRCm39)	S31P	probably benign	Het
Gask1b	T	C	3: 79,793,646 (GRCm39)	L38P	probably damaging	Het
Gm3115	T	C	14: 4,084,302 (GRCm38)		probably benign	Het
Gm9742	T	A	13: 8,079,930 (GRCm39)		noncoding transcript	Het
Gpr160	T	C	3: 30,950,443 (GRCm39)	Y172H	probably benign	Het
Ifnk	T	A	4: 35,152,495 (GRCm39)	L141Q	probably damaging	Het
Klhl36	A	G	8: 120,597,223 (GRCm39)	E308G	probably benign	Het
Lrp1b	T	C	2: 41,396,715 (GRCm39)	I450M	probably benign	Het
Noxa1	T	C	2: 24,981,773 (GRCm39)	Y110C	probably damaging	Het
Or10ad1	T	C	15: 98,105,470 (GRCm39)	Y265C	probably damaging	Het
Pkd2	A	T	5: 104,628,026 (GRCm39)	T367S	possibly damaging	Het
Polg2	T	C	11: 106,663,539 (GRCm39)	I385V	possibly damaging	Het
Ppp1r14bl	A	T	1: 23,141,071 (GRCm39)	I81N	probably damaging	Het
Prr14l	A	G	5: 32,993,014 (GRCm39)	S17P	unknown	Het
Prss22	C	A	17: 24,215,697 (GRCm39)	C75F	probably damaging	Het
Ptgs1	A	G	2: 36,141,253 (GRCm39)	K567E	probably benign	Het
Ptprz1	A	G	6: 23,036,925 (GRCm39)	I1141M	probably damaging	Het
R3hcc1l	A	G	19: 42,552,433 (GRCm39)	K477E	probably damaging	Het
Riok1	A	G	13: 38,232,866 (GRCm39)	Y194C	probably damaging	Het
Smr2	T	A	5: 88,236,095 (GRCm39)	C16S	possibly damaging	Het
Stk25	A	T	1: 93,553,798 (GRCm39)	I187N	probably damaging	Het
Trhde	T	C	10: 114,636,478 (GRCm39)	E243G	probably damaging	Het
Vmn2r3	T	C	3: 64,186,256 (GRCm39)	E143G	probably damaging	Het

Other mutations in Doc2g

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01110:Doc2g	APN	19	4,056,577 (GRCm39)	missense	probably damaging	1.00
PIT4585001:Doc2g	UTSW	19	4,056,630 (GRCm39)	missense	probably benign	0.41
R0194:Doc2g	UTSW	19	4,053,656 (GRCm39)	missense	probably benign	0.00
R3813:Doc2g	UTSW	19	4,054,466 (GRCm39)	splice site	probably null
R4508:Doc2g	UTSW	19	4,054,036 (GRCm39)	splice site	probably benign
R7023:Doc2g	UTSW	19	4,054,778 (GRCm39)	missense	probably benign	0.00
R8987:Doc2g	UTSW	19	4,054,511 (GRCm39)	critical splice acceptor site	probably null
R9664:Doc2g	UTSW	19	4,054,390 (GRCm39)	missense	probably damaging	1.00
R9759:Doc2g	UTSW	19	4,056,571 (GRCm39)	missense	probably benign
Z1177:Doc2g	UTSW	19	4,054,105 (GRCm39)	missense	probably damaging	0.97

Posted On

2015-12-18