Mutagenetix > Incidental Mutations

Incidental Mutation 'PIT4585001:Doc2g'

556636

Institutional Source

Beutler Lab

Gene Symbol

Doc2g

Ensembl Gene

ENSMUSG00000024871

Gene Name

double C2, gamma

Synonyms

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.087) question?

Stock #

PIT4585001 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

4003321-4007005 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 4006630 bp

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 339 (T339A)

Ref Sequence

ENSEMBL: ENSMUSP00000025806 (fasta)

Gene Model

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

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

probably benign
Transcript: ENSMUST00000025806
AA Change: T339A

PolyPhen 2 Score 0.415 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000025806
Gene: ENSMUSG00000024871
AA Change: T339A

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

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

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

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: ENSMUST00000155405

SMART Domains

Protein: ENSMUSP00000119218
Gene: ENSMUSG00000024869

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

Coding Region Coverage

1x: 93.6%
3x: 91.2%
10x: 86.5%
20x: 76.8%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aurka	T	C	2: 172,357,197	M318V	probably benign	Het
Cacna2d1	T	A	5: 16,326,344	D560E	probably damaging	Het
Ccdc148	T	A	2: 58,982,976	T202S	probably benign	Het
Ccdc155	C	T	7: 45,200,271	G76D	probably benign	Het
Cdc42bpb	T	C	12: 111,304,978	D1149G	probably damaging	Het
Clasp1	T	A	1: 118,462,555	N156K	probably damaging	Het
Cox18	G	A	5: 90,217,575	T255I	possibly damaging	Het
Cse1l	A	G	2: 166,941,474	T783A	probably damaging	Het
Dnajc16	T	C	4: 141,764,685	Y609C	probably damaging	Het
Eif5a	T	C	11: 69,918,070		probably benign	Het
Epha3	A	G	16: 63,566,577		probably null	Het
Esco1	A	T	18: 10,594,355	C310*	probably null	Het
Fam208b	G	A	13: 3,574,979	A1657V	possibly damaging	Het
Fam222a	A	G	5: 114,611,040	Y99C	probably damaging	Het
Fzd2	T	C	11: 102,605,747	L339P	probably damaging	Het
Gfral	A	T	9: 76,197,294	N145K	probably damaging	Het
Gga1	T	A	15: 78,893,790	N618K	probably benign	Het
Gpatch3	T	A	4: 133,583,086	H447Q	probably damaging	Het
Gpn1	A	T	5: 31,509,403	R346*	probably null	Het
Gsg1	T	C	6: 135,237,560	E317G	probably benign	Het
Gsk3b	A	G	16: 38,184,454	N129S	probably damaging	Het
Hmg20b	G	T	10: 81,348,955	D94E	possibly damaging	Het
Klhdc9	T	A	1: 171,359,818	H204L	possibly damaging	Het
Klhl24	A	G	16: 20,106,888	I55M	probably benign	Het
Kmt2c	T	C	5: 25,315,106	D2002G	probably benign	Het
Lama4	A	G	10: 39,074,746	N1015S	probably damaging	Het
Lpp	T	C	16: 24,761,947	C263R	probably benign	Het
Lrp1b	T	C	2: 41,269,204	I1689V		Het
Mipep	C	A	14: 60,784,835	Q50K	probably benign	Het
Mx1	T	C	16: 97,456,254	D101G	probably benign	Het
Nabp2	C	G	10: 128,408,807	E37Q	possibly damaging	Het
Nme6	A	G	9: 109,842,036	I115V	possibly damaging	Het
Nup93	A	T	8: 94,243,727	T85S	probably benign	Het
Oit3	T	A	10: 59,431,013	I224F	possibly damaging	Het
Parp14	T	C	16: 35,858,605	K331R	probably benign	Het
Pls1	T	A	9: 95,761,390	T519S	probably benign	Het
Rcn3	A	G	7: 45,086,694	F197L	probably benign	Het
Rnf213	C	T	11: 119,458,392	T3773I		Het
Rprd1b	A	T	2: 158,047,957	I153L	probably benign	Het
Scel	A	G	14: 103,592,368	D462G	possibly damaging	Het
Sh3bp1	C	T	15: 78,910,076	S548L	possibly damaging	Het
Sim1	T	A	10: 50,984,188	Y715*	probably null	Het
Slc18a2	A	T	19: 59,293,861	Q500L	possibly damaging	Het
Slc5a8	T	G	10: 88,886,503	M66R	probably damaging	Het
Slco1a6	T	C	6: 142,109,520	T233A	probably damaging	Het
Smu1	T	C	4: 40,739,623	T396A	probably benign	Het
Tas2r104	T	C	6: 131,685,558	T63A	possibly damaging	Het
Top2a	C	T	11: 99,001,373	A1088T	probably benign	Het
Ucp1	T	C	8: 83,293,948	F129S	probably damaging	Het
Unc13b	T	A	4: 43,091,298	D41E	probably benign	Het
Usp10	T	G	8: 119,954,892	V696G	probably benign	Het
Xylt2	C	T	11: 94,666,240	V745M	probably damaging	Het
Zbtb49	A	T	5: 38,216,476	N41K	probably damaging	Het
Zfp109	T	A	7: 24,229,354	D218V	probably benign	Het
Zfp420	G	A	7: 29,876,005	R550Q	probably benign	Het

Other mutations in Doc2g

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01110:Doc2g	APN	19	4006577	missense	probably damaging	1.00
IGL02952:Doc2g	APN	19	4006719	missense	possibly damaging	0.83
R0194:Doc2g	UTSW	19	4003656	missense	probably benign	0.00
R3813:Doc2g	UTSW	19	4004466	splice site	probably null
R4508:Doc2g	UTSW	19	4004036	splice site	probably benign
R7023:Doc2g	UTSW	19	4004778	missense	probably benign	0.00
Z1177:Doc2g	UTSW	19	4004105	missense	probably damaging	0.97

Predicted Primers

PCR Primer
(F):5'- TCAATGAGGTGGGTCATGGC -3'
(R):5'- TGTGCTGACTAGTCACCAAG -3'

Sequencing Primer
(F):5'- GGGTCATGGCTGGGAGAC -3'
(R):5'- CTGACTAGTCACCAAGTTGGG -3'

Posted On

2019-06-07