Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02348:Get4'

289371

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Get4

Ensembl Gene

ENSMUSG00000025858

Gene Name

golgi to ER traffic protein 4

Synonyms

1110007L15Rik

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL02348

Quality Score

Status

Chromosome

Chromosomal Location

139238079-139255806 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 139238254 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glycine to Aspartic acid at position 12 (G12D)

Ref Sequence

ENSEMBL: ENSMUSP00000026976 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000026976] [ENSMUST00000058716] [ENSMUST00000078690] [ENSMUST00000110878] [ENSMUST00000110882] [ENSMUST00000110883] [ENSMUST00000110884] [ENSMUST00000130326] [ENSMUST00000138508]

AlphaFold

Q9D1H7

Predicted Effect

probably benign
Transcript: ENSMUST00000026976
AA Change: G12D

PolyPhen 2 Score 0.127 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000026976
Gene: ENSMUSG00000025858
AA Change: G12D

Domain	Start	End	E-Value	Type
low complexity region	1	8	N/A	INTRINSIC
low complexity region	12	22	N/A	INTRINSIC
Pfam:DUF410	56	306	4.6e-79	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000058716

SMART Domains

Protein: ENSMUSP00000056655
Gene: ENSMUSG00000036817

Domain	Start	End	E-Value	Type
low complexity region	23	35	N/A	INTRINSIC
low complexity region	108	127	N/A	INTRINSIC
low complexity region	152	162	N/A	INTRINSIC
ZnF_C2H2	183	205	5.2e0	SMART
SCOP:d1qovm1	334	450	2e-3	SMART
low complexity region	466	475	N/A	INTRINSIC
coiled coil region	492	527	N/A	INTRINSIC
SCOP:d1eq1a_	572	689	3e-3	SMART
Pfam:Sad1_UNC	777	911	2.2e-48	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000078690

SMART Domains

Protein: ENSMUSP00000077756
Gene: ENSMUSG00000036817

Domain	Start	End	E-Value	Type
low complexity region	23	35	N/A	INTRINSIC
low complexity region	108	127	N/A	INTRINSIC
low complexity region	152	162	N/A	INTRINSIC
ZnF_C2H2	183	205	5.2e0	SMART
SCOP:d1qovm1	270	386	2e-3	SMART
low complexity region	402	411	N/A	INTRINSIC
coiled coil region	428	463	N/A	INTRINSIC
SCOP:d1eq1a_	508	625	2e-3	SMART
Pfam:Sad1_UNC	713	847	1.9e-48	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000110878

SMART Domains

Protein: ENSMUSP00000106502
Gene: ENSMUSG00000025858

Domain	Start	End	E-Value	Type
Pfam:DUF410	1	250	2.6e-108	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000110882

SMART Domains

Protein: ENSMUSP00000106506
Gene: ENSMUSG00000036817

Domain	Start	End	E-Value	Type
low complexity region	23	35	N/A	INTRINSIC
low complexity region	108	127	N/A	INTRINSIC
low complexity region	152	162	N/A	INTRINSIC
ZnF_C2H2	183	205	5.2e0	SMART
low complexity region	263	271	N/A	INTRINSIC
low complexity region	310	319	N/A	INTRINSIC
coiled coil region	336	371	N/A	INTRINSIC
SCOP:d1eq1a_	416	533	4e-3	SMART
Pfam:Sad1_UNC	621	755	7.1e-49	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000110883

SMART Domains

Protein: ENSMUSP00000106507
Gene: ENSMUSG00000036817

Domain	Start	End	E-Value	Type
low complexity region	23	35	N/A	INTRINSIC
low complexity region	108	127	N/A	INTRINSIC
low complexity region	152	162	N/A	INTRINSIC
ZnF_C2H2	183	205	5.2e0	SMART
SCOP:d1qovm1	233	327	4e-3	SMART
low complexity region	343	352	N/A	INTRINSIC
coiled coil region	369	404	N/A	INTRINSIC
SCOP:d1eq1a_	449	566	3e-3	SMART
Pfam:Sad1_UNC	654	788	1.7e-48	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000110884

SMART Domains

Protein: ENSMUSP00000106508
Gene: ENSMUSG00000036817

Domain	Start	End	E-Value	Type
low complexity region	23	35	N/A	INTRINSIC
low complexity region	108	127	N/A	INTRINSIC
low complexity region	152	162	N/A	INTRINSIC
ZnF_C2H2	183	205	5.2e0	SMART
Pfam:MRP	274	381	1.8e-8	PFAM
low complexity region	382	390	N/A	INTRINSIC
low complexity region	429	438	N/A	INTRINSIC
coiled coil region	455	490	N/A	INTRINSIC
SCOP:d1eq1a_	535	652	4e-3	SMART
Pfam:Sad1_UNC	740	874	2e-48	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000130326
AA Change: G12D

PolyPhen 2 Score 0.042 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000117473
Gene: ENSMUSG00000025858
AA Change: G12D

Domain	Start	End	E-Value	Type
low complexity region	1	8	N/A	INTRINSIC
low complexity region	12	22	N/A	INTRINSIC
Pfam:DUF410	54	246	1.1e-80	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000127310

SMART Domains

Protein: ENSMUSP00000114514
Gene: ENSMUSG00000036817

Domain	Start	End	E-Value	Type
low complexity region	1	11	N/A	INTRINSIC
PDB:4DXS\|A	38	73	3e-6	PDB

Predicted Effect

probably benign
Transcript: ENSMUST00000138508

SMART Domains

Protein: ENSMUSP00000116975
Gene: ENSMUSG00000025858

Domain	Start	End	E-Value	Type
Pfam:DUF410	1	197	4.5e-82	PFAM

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 43 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Akap12	G	A	10: 4,304,722 (GRCm39)	D511N	probably damaging	Het
Akt3	T	A	1: 176,886,952 (GRCm39)	D299V	probably damaging	Het
Arfgef3	G	A	10: 18,467,095 (GRCm39)	P2035L	probably benign	Het
Atp13a3	C	T	16: 30,170,046 (GRCm39)		probably null	Het
Capn9	C	A	8: 125,321,416 (GRCm39)	P151T	probably damaging	Het
Csrnp1	T	A	9: 119,801,709 (GRCm39)	D450V	probably damaging	Het
Ctrb1	C	T	8: 112,413,762 (GRCm39)	A201T	possibly damaging	Het
Erp27	T	C	6: 136,888,544 (GRCm39)	T145A	probably damaging	Het
Fads2b	T	C	2: 85,323,640 (GRCm39)	I298V	possibly damaging	Het
Fanca	A	T	8: 124,032,002 (GRCm39)	L256Q	probably damaging	Het
Fars2	G	A	13: 36,721,354 (GRCm39)	V433I	probably benign	Het
Fbxo9	T	A	9: 78,016,289 (GRCm39)	M1L	probably benign	Het
Fcnb	C	A	2: 27,974,842 (GRCm39)	V10F	possibly damaging	Het
Gad2	C	T	2: 22,519,405 (GRCm39)	H175Y	probably damaging	Het
Gmpr2	T	A	14: 55,915,758 (GRCm39)	I312N	probably damaging	Het
Golm1	T	A	13: 59,786,191 (GRCm39)	M334L	probably benign	Het
Itgam	T	A	7: 127,715,472 (GRCm39)	F1054L	possibly damaging	Het
Kcnk7	C	A	19: 5,756,501 (GRCm39)		probably benign	Het
Kif3b	G	A	2: 153,158,813 (GRCm39)	A205T	probably damaging	Het
Macf1	C	T	4: 123,406,659 (GRCm39)	V276M	probably damaging	Het
Mdga2	T	A	12: 66,597,349 (GRCm39)	N715I	probably damaging	Het
Mfap5	T	A	6: 122,503,746 (GRCm39)	S103R	possibly damaging	Het
Nckap1	C	T	2: 80,348,326 (GRCm39)	V876M	probably damaging	Het
Ncor1	A	T	11: 62,224,485 (GRCm39)		probably benign	Het
Nfya	G	A	17: 48,700,304 (GRCm39)	Q122*	probably null	Het
Nup210l	G	A	3: 90,011,471 (GRCm39)		probably benign	Het
Or5h22	T	G	16: 58,895,312 (GRCm39)	I44L	probably damaging	Het
Pcdhb19	T	A	18: 37,631,861 (GRCm39)	L552Q	probably damaging	Het
Psmd2	T	A	16: 20,473,397 (GRCm39)	S153T	probably benign	Het
Ptpn4	T	C	1: 119,610,452 (GRCm39)	Y685C	probably damaging	Het
Rad54l2	T	C	9: 106,597,575 (GRCm39)	R144G	probably damaging	Het
S1pr4	A	C	10: 81,334,855 (GRCm39)	Y206*	probably null	Het
Slc39a14	A	G	14: 70,553,885 (GRCm39)		probably null	Het
Stx2	G	A	5: 129,065,894 (GRCm39)	A254V	probably damaging	Het
Sumf2	G	T	5: 129,888,711 (GRCm39)	G216C	probably damaging	Het
Tbc1d32	A	G	10: 56,100,715 (GRCm39)	S88P	probably benign	Het
Trem1	T	A	17: 48,539,824 (GRCm39)	M1K	probably null	Het
Trmt1l	T	C	1: 151,325,757 (GRCm39)	Y401H	probably damaging	Het
Ttc22	A	T	4: 106,480,135 (GRCm39)	M130L	probably damaging	Het
Wnk1	T	C	6: 119,940,289 (GRCm39)	E816G	probably damaging	Het
Wnt9b	C	T	11: 103,622,908 (GRCm39)	G165D	probably damaging	Het
Zscan21	A	G	5: 138,131,645 (GRCm39)	T390A	probably damaging	Het
Zswim7	G	T	11: 62,159,581 (GRCm39)	C85*	probably null	Het

Other mutations in Get4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01064:Get4	APN	5	139,238,277 (GRCm39)	missense	probably damaging	0.99
IGL02219:Get4	APN	5	139,249,384 (GRCm39)	critical splice donor site	probably null
R0741:Get4	UTSW	5	139,249,384 (GRCm39)	critical splice donor site	probably benign
R3805:Get4	UTSW	5	139,238,286 (GRCm39)	missense	probably damaging	0.98
R3807:Get4	UTSW	5	139,238,286 (GRCm39)	missense	probably damaging	0.98
R6609:Get4	UTSW	5	139,254,820 (GRCm39)	unclassified	probably benign
R7026:Get4	UTSW	5	139,238,358 (GRCm39)	missense	possibly damaging	0.94
R8066:Get4	UTSW	5	139,249,293 (GRCm39)	missense	probably damaging	0.99
R8292:Get4	UTSW	5	139,248,686 (GRCm39)	missense	probably null	0.01
R8428:Get4	UTSW	5	139,251,393 (GRCm39)	missense	probably benign	0.00

Posted On

2015-04-16