Mutagenetix > Incidental Mutation

Incidental Mutation 'R6319:Gpn3'

509331

Institutional Source

Beutler Lab

Gene Symbol

Gpn3

Ensembl Gene

ENSMUSG00000029464

Gene Name

GPN-loop GTPase 3

Synonyms

D5Ertd708e, A930018B01Rik, Atpbd1c

MMRRC Submission

044474-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.935) question?

Stock #

R6319 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

122510571-122520834 bp(+) (GRCm39)

Type of Mutation

start gained

DNA Base Change (assembly)

C to T at 122510638 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000143405 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000031419] [ENSMUST00000031420] [ENSMUST00000127608]

AlphaFold

Q9D3W4

Predicted Effect

probably benign
Transcript: ENSMUST00000031419

SMART Domains

Protein: ENSMUSP00000031419
Gene: ENSMUSG00000029463

Domain	Start	End	E-Value	Type
Pfam:FAM216B	50	160	6e-49	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000031420

SMART Domains

Protein: ENSMUSP00000031420
Gene: ENSMUSG00000029464

Domain	Start	End	E-Value	Type
Pfam:ATP_bind_1	8	254	5.5e-95	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000123537

SMART Domains

Protein: ENSMUSP00000120667
Gene: ENSMUSG00000029464

Domain	Start	End	E-Value	Type
Pfam:ATP_bind_1	1	112	2.2e-44	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000127608

SMART Domains

Protein: ENSMUSP00000143405
Gene: ENSMUSG00000029464

Domain	Start	End	E-Value	Type
Pfam:ATP_bind_1	8	189	1.2e-78	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000156978

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000196642

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.6%
20x: 98.8%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 42 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcg2	T	C	6: 58,651,723 (GRCm39)	S372P	probably benign	Het
Adam34	A	G	8: 44,104,952 (GRCm39)	I231T	probably benign	Het
Adgrg6	T	A	10: 14,307,366 (GRCm39)	H840L	probably damaging	Het
Akap11	T	C	14: 78,750,978 (GRCm39)	T470A	probably benign	Het
Atp1a2	C	G	1: 172,116,903 (GRCm39)	R238P	probably damaging	Het
B430306N03Rik	A	T	17: 48,623,771 (GRCm39)	Q24L	probably damaging	Het
Bmp6	A	T	13: 38,530,390 (GRCm39)	H161L	probably benign	Het
Cdca8	C	A	4: 124,815,087 (GRCm39)	D177Y	possibly damaging	Het
Col14a1	A	G	15: 55,379,565 (GRCm39)	T1693A	probably damaging	Het
Cpsf1	A	G	15: 76,481,167 (GRCm39)	S1230P	probably damaging	Het
Dcaf13	A	G	15: 39,007,067 (GRCm39)	T334A	probably benign	Het
Dhx32	A	C	7: 133,338,955 (GRCm39)	V360G	probably damaging	Het
Dmxl1	A	G	18: 49,985,367 (GRCm39)	T205A	probably benign	Het
Dxo	A	G	17: 35,057,367 (GRCm39)	E253G	probably damaging	Het
Enpp1	T	C	10: 24,523,929 (GRCm39)	Y747C	probably damaging	Het
Gga2	T	C	7: 121,601,389 (GRCm39)	E238G	possibly damaging	Het
Grik4	A	T	9: 42,477,632 (GRCm39)	M518K	probably damaging	Het
Igf2r	T	A	17: 12,933,000 (GRCm39)	S841C	probably damaging	Het
Itfg1	G	T	8: 86,567,258 (GRCm39)	T37K	probably damaging	Het
Kcnn4	T	A	7: 24,081,165 (GRCm39)	M301K	possibly damaging	Het
Kel	C	A	6: 41,679,381 (GRCm39)	E127D	probably benign	Het
Lrp4	A	G	2: 91,310,666 (GRCm39)	Y569C	probably damaging	Het
Lrp6	A	T	6: 134,518,798 (GRCm39)	V89D	possibly damaging	Het
Mical2	A	G	7: 111,927,884 (GRCm39)	D674G	possibly damaging	Het
Mnd1	A	G	3: 84,049,071 (GRCm39)	S2P	possibly damaging	Het
Neb	T	A	2: 52,053,023 (GRCm39)		probably null	Het
Or51af1	T	C	7: 103,141,932 (GRCm39)	E51G	possibly damaging	Het
Or5h23	A	G	16: 58,906,384 (GRCm39)	I154T	probably benign	Het
Or8g17	A	G	9: 38,930,810 (GRCm39)	V9A	probably damaging	Het
Pcca	G	A	14: 122,820,035 (GRCm39)	V60M	probably damaging	Het
Plekhm3	A	T	1: 64,961,093 (GRCm39)	Y388N	probably benign	Het
Prr18	G	T	17: 8,560,143 (GRCm39)	V100F	probably damaging	Het
Rnf25	T	C	1: 74,634,890 (GRCm39)	Y44C	probably damaging	Het
Smg6	T	C	11: 75,047,048 (GRCm39)	L1247P	probably damaging	Het
Spata31e2	G	A	1: 26,724,482 (GRCm39)	R233C	probably benign	Het
Tdh	T	C	14: 63,733,186 (GRCm39)	T137A	probably benign	Het
Tmem200a	A	G	10: 25,869,393 (GRCm39)	V292A	probably damaging	Het
Ubr3	T	C	2: 69,803,758 (GRCm39)	V1116A	probably benign	Het
Ubr4	G	A	4: 139,136,200 (GRCm39)	E942K	possibly damaging	Het
Unc5b	G	A	10: 60,614,580 (GRCm39)	A239V	probably damaging	Het
Vill	G	C	9: 118,892,716 (GRCm39)	Q376H	probably benign	Het
Vmn2r115	A	G	17: 23,566,877 (GRCm39)	E463G	possibly damaging	Het

Other mutations in Gpn3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01890:Gpn3	APN	5	122,519,328 (GRCm39)	missense	probably benign	0.02
IGL02625:Gpn3	APN	5	122,519,257 (GRCm39)	missense	probably damaging	0.98
IGL02947:Gpn3	APN	5	122,516,551 (GRCm39)	missense	possibly damaging	0.94
R0125:Gpn3	UTSW	5	122,519,481 (GRCm39)	missense	probably benign	0.01
R1171:Gpn3	UTSW	5	122,516,583 (GRCm39)	missense	probably benign	0.00
R4434:Gpn3	UTSW	5	122,520,115 (GRCm39)	missense	probably benign	0.01
R4435:Gpn3	UTSW	5	122,520,115 (GRCm39)	missense	probably benign	0.01
R4673:Gpn3	UTSW	5	122,511,981 (GRCm39)	missense	probably damaging	1.00
R4687:Gpn3	UTSW	5	122,516,638 (GRCm39)	missense	possibly damaging	0.73
R4944:Gpn3	UTSW	5	122,520,303 (GRCm39)	intron	probably benign
R6209:Gpn3	UTSW	5	122,520,175 (GRCm39)	missense	probably benign
R6280:Gpn3	UTSW	5	122,512,022 (GRCm39)	missense	probably benign	0.00
R6315:Gpn3	UTSW	5	122,510,638 (GRCm39)	start gained	probably benign
R6323:Gpn3	UTSW	5	122,510,638 (GRCm39)	start gained	probably benign
R6324:Gpn3	UTSW	5	122,510,638 (GRCm39)	start gained	probably benign
R9258:Gpn3	UTSW	5	122,519,508 (GRCm39)	missense	probably benign
R9664:Gpn3	UTSW	5	122,520,306 (GRCm39)	missense

Predicted Primers

Posted On

2018-04-02