Mutagenetix > Incidental Mutations

Incidental Mutation 'R1583:Gpn1'

177242

Institutional Source

Beutler Lab

Gene Symbol

Gpn1

Ensembl Gene

ENSMUSG00000064037

Gene Name

GPN-loop GTPase 1

Synonyms

2410004J02Rik, Xab1

MMRRC Submission

039620-MU

Accession Numbers

Is this an essential gene?

Probably essential (E-score: 0.963) question?

Stock #

R1583 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

31494741-31512904 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 31497338 bp

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 78 (E78G)

Ref Sequence

ENSEMBL: ENSMUSP00000144105 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000076949] [ENSMUST00000201053] [ENSMUST00000202394]

Predicted Effect

probably benign
Transcript: ENSMUST00000076949
AA Change: E78G

PolyPhen 2 Score 0.229 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000076217
Gene: ENSMUSG00000064037
AA Change: E78G

Domain	Start	End	E-Value	Type
AAA	18	182	9.44e-4	SMART
low complexity region	263	275	N/A	INTRINSIC
low complexity region	330	344	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000200870

Predicted Effect

probably benign
Transcript: ENSMUST00000201053

SMART Domains

Protein: ENSMUSP00000144015
Gene: ENSMUSG00000064037

Domain	Start	End	E-Value	Type
Pfam:ATP_bind_1	24	73	1.2e-18	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000201177

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000201881

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000201942

Predicted Effect

possibly damaging
Transcript: ENSMUST00000202394
AA Change: E78G

PolyPhen 2 Score 0.455 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000144105
Gene: ENSMUSG00000064037
AA Change: E78G

Domain	Start	End	E-Value	Type
Pfam:ATP_bind_1	24	87	1.8e-26	PFAM

Meta Mutation Damage Score

0.534

Coding Region Coverage

1x: 99.0%
3x: 98.0%
10x: 95.2%
20x: 88.8%

Validation Efficiency

99% (79/80)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a guanosine triphosphatase enzyme. The encoded protein may play a role in DNA repair and may function in activation of transcription. Alternatively spliced transcript variants have been described. [provided by RefSeq, Feb 2009]

Allele List at MGI

Other mutations in this stock

Total: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aasdh	A	G	5: 76,882,681	S691P	probably benign	Het
Adgrb3	T	C	1: 25,226,831		probably null	Het
Ankar	A	G	1: 72,679,555		probably benign	Het
Aplf	A	T	6: 87,646,033	Y355N	probably damaging	Het
Bms1	A	G	6: 118,389,389		probably benign	Het
Catsperb	T	C	12: 101,463,114	I182T	probably damaging	Het
Cd300ld2	T	C	11: 115,013,777	D88G	probably benign	Het
Cebpz	T	C	17: 78,934,752	N491S	probably damaging	Het
Crybg2	T	C	4: 134,081,459	S1415P	probably damaging	Het
Ddc	A	G	11: 11,829,131	V331A	probably benign	Het
Decr2	T	C	17: 26,083,024	E244G	probably damaging	Het
Dhrs11	A	G	11: 84,823,117	M136T	probably damaging	Het
Eapp	G	A	12: 54,685,948	Q126*	probably null	Het
Fam111a	T	A	19: 12,587,778	V297D	probably damaging	Het
Fam84a	G	A	12: 14,150,408	A106V	probably benign	Het
Fbxo10	A	C	4: 45,062,118	L136R	probably damaging	Het
Fbxo30	T	A	10: 11,291,374	H613Q	possibly damaging	Het
Frk	A	T	10: 34,591,810		probably null	Het
Gm10392	T	A	11: 77,517,481	D104V	probably benign	Het
Gm960	T	A	19: 4,652,171	K282N	probably damaging	Het
Hhip	T	C	8: 79,990,276	Y506C	probably damaging	Het
Hid1	G	A	11: 115,356,750	S274L	possibly damaging	Het
Immp2l	G	T	12: 41,703,765		probably benign	Het
Klhl21	T	C	4: 152,009,624	F228L	possibly damaging	Het
Lamc1	T	A	1: 153,243,478		probably null	Het
Lars	G	A	18: 42,210,050	R1101C	probably damaging	Het
Magi2	T	C	5: 19,227,332	V15A	probably benign	Het
Map2k7	T	C	8: 4,243,621		probably null	Het
Mga	T	A	2: 119,963,960	H2590Q	possibly damaging	Het
Mlxip	T	C	5: 123,450,223	I238T	possibly damaging	Het
Mylk	T	A	16: 34,875,586	D230E	probably benign	Het
Nacad	T	A	11: 6,601,185	T669S	probably benign	Het
Nin	C	T	12: 70,031,738	M1691I	probably benign	Het
Nlrp4d	C	T	7: 10,382,237	A203T	probably damaging	Het
Olfr1204	T	G	2: 88,852,262	F104C	probably damaging	Het
Olfr1301	A	T	2: 111,754,425	M59L	probably damaging	Het
Olfr1495	A	T	19: 13,768,510	H56L	probably benign	Het
Olfr201	A	G	16: 59,269,031	V212A	probably benign	Het
Olfr433	T	C	1: 174,042,480	F177L	probably benign	Het
Olfr729	C	A	14: 50,148,774	M33I	probably benign	Het
Osbp	C	A	19: 11,977,829	Q282K	probably benign	Het
Osbpl2	A	G	2: 180,148,463	S177G	probably damaging	Het
Pax1	A	G	2: 147,366,255	H261R	possibly damaging	Het
Pcif1	A	T	2: 164,886,727	L274F	probably damaging	Het
Pkhd1	A	G	1: 20,117,825	S3420P	probably benign	Het
Prss3	A	C	6: 41,377,627		probably benign	Het
Ptk2b	T	C	14: 66,163,114	T751A	possibly damaging	Het
Pus10	T	C	11: 23,673,239	V126A	probably damaging	Het
Rai14	A	C	15: 10,587,916	D258E	probably damaging	Het
Rbp3	T	C	14: 33,954,524	V143A	possibly damaging	Het
Sarm1	G	A	11: 78,483,327	Q625*	probably null	Het
Scgb1b21	T	G	7: 33,527,667		noncoding transcript	Het
Scrn1	A	T	6: 54,520,769	V279E	probably damaging	Het
Sipa1l2	T	C	8: 125,421,895	T1670A	probably damaging	Het
Slc9a4	A	T	1: 40,600,962	I305F	probably benign	Het
Smarcc1	A	G	9: 110,213,617	T918A	probably damaging	Het
Tas2r109	A	T	6: 132,980,426	H180Q	probably benign	Het
Tas2r121	G	A	6: 132,700,230	R260*	probably null	Het
Tenm3	T	C	8: 48,279,074	D1249G	probably benign	Het
Tgtp1	C	G	11: 48,987,530	G116A	probably damaging	Het
Tial1	A	G	7: 128,443,910	Y317H	probably damaging	Het
Trim66	A	T	7: 109,455,080	W1308R	probably damaging	Het
Ulk2	T	G	11: 61,783,545	K878N	possibly damaging	Het
Zfp41	T	A	15: 75,618,291	S31T	possibly damaging	Het

Other mutations in Gpn1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01114:Gpn1	APN	5	31498401	missense	probably damaging	0.99
IGL01431:Gpn1	APN	5	31507538	missense	probably benign	0.00
IGL01673:Gpn1	APN	5	31494835	missense	probably damaging	1.00
IGL01921:Gpn1	APN	5	31499268	missense	probably damaging	0.99
IGL03243:Gpn1	APN	5	31510831	critical splice acceptor site	probably null
IGL03343:Gpn1	APN	5	31504965	missense	probably damaging	1.00
PIT4480001:Gpn1	UTSW	5	31497341	missense	probably damaging	1.00
PIT4585001:Gpn1	UTSW	5	31509403	nonsense	probably null
R0001:Gpn1	UTSW	5	31495617	splice site	probably benign
R1301:Gpn1	UTSW	5	31503429	missense	probably damaging	1.00
R1622:Gpn1	UTSW	5	31503404	missense	possibly damaging	0.85
R2860:Gpn1	UTSW	5	31497320	missense	probably damaging	1.00
R2861:Gpn1	UTSW	5	31497320	missense	probably damaging	1.00
R4603:Gpn1	UTSW	5	31497352	critical splice donor site	probably null
R4627:Gpn1	UTSW	5	31498393	nonsense	probably null
R5927:Gpn1	UTSW	5	31500891	missense	probably damaging	1.00
R6613:Gpn1	UTSW	5	31497352	critical splice donor site	probably null
R6830:Gpn1	UTSW	5	31507488	missense	probably benign	0.00
R7214:Gpn1	UTSW	5	31503417	missense	probably damaging	1.00
R7372:Gpn1	UTSW	5	31501121	missense	probably damaging	0.99
X0062:Gpn1	UTSW	5	31495593	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CCTGGGGTACTACTTGGCAGTTATCTTT -3'
(R):5'- TCTCCGATCTTTAGTGACAGCACTTACA -3'

Sequencing Primer
(F):5'- TGCTGGTAAGATACggtggc -3'
(R):5'- agccatctcaccagccc -3'

Posted On

2014-04-24