Mutagenetix > Incidental Mutation

Incidental Mutation 'R1116:Ergic3'

97233

Institutional Source

Beutler Lab

Gene Symbol

Ergic3

Ensembl Gene

ENSMUSG00000005881

Gene Name

ERGIC and golgi 3

Synonyms

2310015B14Rik, CGI-54, NY-BR-84, D2Ucla1, Sdbcag84

MMRRC Submission

039189-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.433) question?

Stock #

R1116 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

155849965-155860199 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 155858707 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Methionine at position 278 (V278M)

Ref Sequence

ENSEMBL: ENSMUSP00000086025 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000006035] [ENSMUST00000088650] [ENSMUST00000109611]

AlphaFold

Q9CQE7

Predicted Effect

probably benign
Transcript: ENSMUST00000006035
AA Change: V267M

PolyPhen 2 Score 0.025 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000006035
Gene: ENSMUSG00000005881
AA Change: V267M

Domain	Start	End	E-Value	Type
Pfam:ERGIC_N	6	101	2.2e-38	PFAM
Pfam:COPIIcoated_ERV	145	363	6.2e-86	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000088650
AA Change: V278M

PolyPhen 2 Score 0.069 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000086025
Gene: ENSMUSG00000005881
AA Change: V278M

Domain	Start	End	E-Value	Type
Pfam:ERGIC_N	7	97	9e-35	PFAM
Pfam:COPIIcoated_ERV	145	374	7e-94	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000109611

SMART Domains

Protein: ENSMUSP00000105240
Gene: ENSMUSG00000013338

Domain	Start	End	E-Value	Type
PDB:3L9B\|A	1	122	1e-12	PDB
Blast:C2	2	96	2e-51	BLAST
low complexity region	159	172	N/A	INTRINSIC
low complexity region	178	197	N/A	INTRINSIC
C2	228	329	2.87e-7	SMART
FerI	312	383	7.93e-29	SMART
C2	391	501	3.64e-9	SMART
low complexity region	574	581	N/A	INTRINSIC
low complexity region	611	622	N/A	INTRINSIC
low complexity region	829	837	N/A	INTRINSIC
low complexity region	844	855	N/A	INTRINSIC
FerB	861	932	7.27e-37	SMART
C2	968	1076	3.73e-6	SMART
low complexity region	1249	1257	N/A	INTRINSIC
low complexity region	1280	1310	N/A	INTRINSIC
low complexity region	1327	1340	N/A	INTRINSIC
low complexity region	1397	1407	N/A	INTRINSIC
C2	1449	1548	5.65e-15	SMART
C2	1692	1822	4.22e-5	SMART
Pfam:Ferlin_C	1834	1987	1.6e-74	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000130793

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000137545

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000138297

Predicted Effect

unknown
Transcript: ENSMUST00000142859
AA Change: V200M

SMART Domains

Protein: ENSMUSP00000115912
Gene: ENSMUSG00000005881
AA Change: V200M

Domain	Start	End	E-Value	Type
Pfam:COPIIcoated_ERV	74	246	1.9e-67	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000150970

Predicted Effect

unknown
Transcript: ENSMUST00000155370
AA Change: V142M

SMART Domains

Protein: ENSMUSP00000119051
Gene: ENSMUSG00000005881
AA Change: V142M

Domain	Start	End	E-Value	Type
Pfam:COPIIcoated_ERV	21	235	1e-95	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000149381

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000152568

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000150538

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.1%
3x: 98.3%
10x: 96.1%
20x: 92.8%

Validation Efficiency

100% (49/49)

Allele List at MGI

Other mutations in this stock

Total: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abi3bp	T	C	16: 56,506,792 (GRCm39)		probably benign	Het
Acacb	C	T	5: 114,349,017 (GRCm39)	P1028S	probably damaging	Het
Acad10	A	G	5: 121,768,814 (GRCm39)	F717S	probably damaging	Het
Adgrg6	A	T	10: 14,314,172 (GRCm39)	Y705N	probably benign	Het
Adm	A	G	7: 110,227,501 (GRCm39)	I6V	probably benign	Het
Agps	T	G	2: 75,692,269 (GRCm39)		probably benign	Het
Atr	C	T	9: 95,749,689 (GRCm39)	Q501*	probably null	Het
Cacna2d3	A	G	14: 28,786,278 (GRCm39)		probably benign	Het
Ccnt1	G	A	15: 98,442,219 (GRCm39)	R350W	probably damaging	Het
Cfap74	G	A	4: 155,518,453 (GRCm39)	E564K	probably benign	Het
Clip1	T	C	5: 123,717,554 (GRCm39)	E1250G	probably damaging	Het
Cryz	A	C	3: 154,327,240 (GRCm39)		probably benign	Het
Dnah1	C	A	14: 31,029,824 (GRCm39)	V494F	probably benign	Het
Dpep3	G	T	8: 106,705,461 (GRCm39)	D96E	probably damaging	Het
Dyrk3	G	A	1: 131,056,919 (GRCm39)	A418V	probably damaging	Het
Ehf	T	A	2: 103,097,354 (GRCm39)	N231I	probably damaging	Het
Eif4g3	T	C	4: 137,819,086 (GRCm39)		probably null	Het
Fabp3	C	T	4: 130,206,180 (GRCm39)	T57I	probably benign	Het
Fam178b	A	T	1: 36,617,669 (GRCm39)	C82*	probably null	Het
Gm1647	C	T	3: 69,064,205 (GRCm39)	Q31*	probably null	Het
Got1	T	A	19: 43,491,413 (GRCm39)	K346*	probably null	Het
Grid2ip	G	A	5: 143,368,669 (GRCm39)	G656D	possibly damaging	Het
Grm2	A	G	9: 106,525,126 (GRCm39)	Y530H	probably damaging	Het
Hyou1	T	C	9: 44,295,978 (GRCm39)	I381T	probably damaging	Het
Kirrel1	C	T	3: 86,996,458 (GRCm39)	M380I	probably null	Het
Marchf11	T	C	15: 26,409,381 (GRCm39)	L360P	probably damaging	Het
Mettl17	T	C	14: 52,127,055 (GRCm39)	V281A	probably benign	Het
Micu2	A	T	14: 58,191,657 (GRCm39)	D131E	probably benign	Het
Mug1	G	C	6: 121,847,604 (GRCm39)	V661L	probably benign	Het
Myo18b	A	T	5: 112,951,145 (GRCm39)	D1488E	probably damaging	Het
Nkg7	G	A	7: 43,086,878 (GRCm39)	V51I	probably benign	Het
Nlgn1	A	C	3: 25,488,038 (GRCm39)	S766A	probably benign	Het
Or4d2b	T	A	11: 87,780,234 (GRCm39)	M163L	probably benign	Het
Otog	T	C	7: 45,950,025 (GRCm39)		probably benign	Het
Pax2	T	C	19: 44,745,863 (GRCm39)	S11P	probably damaging	Het
Pck2	A	G	14: 55,782,823 (GRCm39)	D392G	probably benign	Het
Plxnd1	A	T	6: 115,943,966 (GRCm39)		probably null	Het
Prkdc	A	G	16: 15,600,943 (GRCm39)	D2868G	probably benign	Het
Prl3d2	T	C	13: 27,309,985 (GRCm39)	L149P	probably damaging	Het
Purg	A	T	8: 33,876,773 (GRCm39)	H137L	probably benign	Het
Slc38a8	A	T	8: 120,222,872 (GRCm39)	L150Q	probably damaging	Het
Tifab	T	A	13: 56,324,025 (GRCm39)	R139S	possibly damaging	Het
Txndc16	T	C	14: 45,400,442 (GRCm39)	H353R	probably benign	Het
Ulbp3	A	T	10: 3,070,180 (GRCm39)		noncoding transcript	Het
Upk2	A	G	9: 44,365,086 (GRCm39)		probably null	Het
Zdhhc25	G	A	15: 88,484,823 (GRCm39)	V53I	probably benign	Het
Zfp738	T	A	13: 67,818,362 (GRCm39)		probably null	Het
Zfp810	C	T	9: 22,190,381 (GRCm39)	E176K	probably benign	Het
Zfp846	T	A	9: 20,504,559 (GRCm39)	W140R	possibly damaging	Het

Other mutations in Ergic3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02089:Ergic3	APN	2	155,852,395 (GRCm39)	missense	probably benign
IGL02792:Ergic3	APN	2	155,859,770 (GRCm39)	missense	probably damaging	1.00
R0128:Ergic3	UTSW	2	155,853,060 (GRCm39)	missense	possibly damaging	0.79
R0389:Ergic3	UTSW	2	155,858,707 (GRCm39)	missense	probably benign	0.07
R0443:Ergic3	UTSW	2	155,858,707 (GRCm39)	missense	probably benign	0.07
R2005:Ergic3	UTSW	2	155,853,028 (GRCm39)	missense	possibly damaging	0.85
R2230:Ergic3	UTSW	2	155,859,736 (GRCm39)	missense	probably damaging	1.00
R2232:Ergic3	UTSW	2	155,859,736 (GRCm39)	missense	probably damaging	1.00
R4975:Ergic3	UTSW	2	155,859,638 (GRCm39)	critical splice donor site	probably null
R5103:Ergic3	UTSW	2	155,850,545 (GRCm39)	missense	probably benign	0.37
R5285:Ergic3	UTSW	2	155,859,957 (GRCm39)	unclassified	probably benign
R6624:Ergic3	UTSW	2	155,858,818 (GRCm39)	missense	probably damaging	1.00
R6660:Ergic3	UTSW	2	155,859,754 (GRCm39)	missense	probably damaging	1.00
R7094:Ergic3	UTSW	2	155,858,683 (GRCm39)	missense	possibly damaging	0.85
R8948:Ergic3	UTSW	2	155,853,160 (GRCm39)	missense	probably benign	0.29
R9155:Ergic3	UTSW	2	155,850,780 (GRCm39)	missense	probably damaging	1.00
R9780:Ergic3	UTSW	2	155,853,164 (GRCm39)	nonsense	probably null
X0027:Ergic3	UTSW	2	155,850,531 (GRCm39)	missense	possibly damaging	0.78

Predicted Primers

PCR Primer
(F):5'- GGTACAGCCAGTCCTTCCATCATTG -3'
(R):5'- AGTTGTCCCCGTACTACCTGAACTC -3'

Sequencing Primer
(F):5'- CCCTGCATTGACAGACTCAG -3'
(R):5'- GTACTACCTGAACTCACCTCC -3'

Posted On

2014-01-05