Mutagenetix > Incidental Mutation

Incidental Mutation 'R1905:Golm1'

214320

Institutional Source

Beutler Lab

Gene Symbol

Golm1

Ensembl Gene

ENSMUSG00000021556

Gene Name

golgi membrane protein 1

Synonyms

Golph2, 2310001L02Rik, D030064E01Rik, PSEC0257, GP73

MMRRC Submission

039924-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.063) question?

Stock #

R1905 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

59782810-59823598 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 59790065 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Glutamic Acid at position 245 (V245E)

Ref Sequence

ENSEMBL: ENSMUSP00000093410 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000022039] [ENSMUST00000095739]

AlphaFold

Q91XA2

Predicted Effect

probably benign
Transcript: ENSMUST00000022039
AA Change: V245E

PolyPhen 2 Score 0.038 (Sensitivity: 0.94; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000022039
Gene: ENSMUSG00000021556
AA Change: V245E

Domain	Start	End	E-Value	Type
transmembrane domain	13	35	N/A	INTRINSIC
coiled coil region	40	144	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000095739
AA Change: V245E

PolyPhen 2 Score 0.038 (Sensitivity: 0.94; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000093410
Gene: ENSMUSG00000021556
AA Change: V245E

Domain	Start	End	E-Value	Type
transmembrane domain	13	35	N/A	INTRINSIC
coiled coil region	40	144	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000225333

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 97.5%
3x: 97.0%
10x: 95.5%
20x: 93.1%

Validation Efficiency

99% (90/91)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The Golgi complex plays a key role in the sorting and modification of proteins exported from the endoplasmic reticulum. The protein encoded by this gene is a type II Golgi transmembrane protein. It processes proteins synthesized in the rough endoplasmic reticulum and assists in the transport of protein cargo through the Golgi apparatus. The expression of this gene has been observed to be upregulated in response to viral infection. Alternatively spliced transcript variants encoding the same protein have been described for this gene. [provided by RefSeq, Sep 2009]
PHENOTYPE: Mice homozygous for a gene trap allele exhibit increased premature lethality with kidney abnormalities and liver steatosis. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 89 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4833420G17Rik	G	T	13: 119,606,216 (GRCm39)	V153L	possibly damaging	Het
Adamts17	T	A	7: 66,697,220 (GRCm39)	C631*	probably null	Het
Adamts19	A	G	18: 59,166,017 (GRCm39)	R1070G	possibly damaging	Het
Aldh1a1	A	G	19: 20,595,362 (GRCm39)	E97G	probably damaging	Het
Bola2	T	A	7: 126,295,410 (GRCm39)	V40E	probably damaging	Het
Ccar1	A	G	10: 62,612,437 (GRCm39)	S243P	possibly damaging	Het
Cd80	A	T	16: 38,294,539 (GRCm39)	I141F	probably damaging	Het
Ceacam23	T	A	7: 17,607,477 (GRCm39)		noncoding transcript	Het
Chn2	T	C	6: 54,263,106 (GRCm39)	C92R	probably damaging	Het
Ciao2a	A	G	9: 66,039,929 (GRCm39)	K82R	probably benign	Het
Clk1	A	T	1: 58,461,101 (GRCm39)		probably benign	Het
Clock	T	C	5: 76,414,735 (GRCm39)		probably benign	Het
Cntnap3	A	G	13: 65,051,578 (GRCm39)	V26A	probably benign	Het
Csf3r	A	T	4: 125,936,538 (GRCm39)	K651N	probably benign	Het
Cul4a	T	C	8: 13,183,171 (GRCm39)	M322T	probably benign	Het
Cx3cl1	A	G	8: 95,506,687 (GRCm39)	T231A	probably benign	Het
Cyp2c68	A	T	19: 39,724,026 (GRCm39)	C213S	probably benign	Het
Dhx16	T	G	17: 36,199,247 (GRCm39)	S814A	probably benign	Het
Dnah1	T	C	14: 30,986,587 (GRCm39)	I3659V	probably benign	Het
Dock6	A	T	9: 21,740,870 (GRCm39)	V906D	probably benign	Het
Ep400	G	A	5: 110,818,814 (GRCm39)	T2738I	probably damaging	Het
Erbb4	A	T	1: 68,114,569 (GRCm39)		probably benign	Het
Fam135b	C	T	15: 71,404,836 (GRCm39)	R70H	probably damaging	Het
Fam13a	T	C	6: 58,930,475 (GRCm39)	Q479R	probably damaging	Het
Fcgr4	A	T	1: 170,856,874 (GRCm39)	Q247L	probably damaging	Het
Flnc	T	A	6: 29,459,459 (GRCm39)	C2520S	probably damaging	Het
Foxn1	A	G	11: 78,262,636 (GRCm39)		probably null	Het
Fsip2	C	T	2: 82,813,772 (GRCm39)	P3364S	possibly damaging	Het
Fzd8	C	T	18: 9,213,803 (GRCm39)	T295I	probably damaging	Het
Gm4744	G	A	6: 40,928,736 (GRCm39)		probably benign	Het
Gm4871	G	T	5: 144,966,859 (GRCm39)	A208D	probably damaging	Het
Gm527	A	G	12: 64,967,797 (GRCm39)	N73S	possibly damaging	Het
Gm5414	T	C	15: 101,533,075 (GRCm39)	I451V	probably damaging	Het
Grik1	A	T	16: 87,693,754 (GRCm39)	Y879*	probably null	Het
Grn	C	A	11: 102,327,276 (GRCm39)	P241Q	probably damaging	Het
H2-T7	T	C	17: 36,453,833 (GRCm39)		noncoding transcript	Het
Hjurp	T	C	1: 88,194,338 (GRCm39)	E190G	probably benign	Het
Hmcn1	A	C	1: 150,868,606 (GRCm39)	I66S	probably damaging	Het
Hykk	T	A	9: 54,853,667 (GRCm39)	Y330N	probably benign	Het
Khdc1c	A	G	1: 21,439,281 (GRCm39)	N89S	probably benign	Het
Lcor	A	G	19: 41,572,013 (GRCm39)	D256G	possibly damaging	Het
Lrrc72	T	A	12: 36,258,661 (GRCm39)		probably null	Het
Lyst	T	G	13: 13,808,719 (GRCm39)	S130A	probably benign	Het
Mast1	G	A	8: 85,642,895 (GRCm39)	R967C	probably damaging	Het
Mfng	T	C	15: 78,657,286 (GRCm39)	T63A	probably damaging	Het
Mre11a	G	A	9: 14,710,923 (GRCm39)	D206N	probably benign	Het
Myh10	A	G	11: 68,662,694 (GRCm39)		probably benign	Het
Myt1	A	G	2: 181,439,549 (GRCm39)	D357G	probably damaging	Het
Nacad	T	A	11: 6,552,540 (GRCm39)	H217L	probably benign	Het
Ncoa1	A	G	12: 4,345,433 (GRCm39)	V638A	probably damaging	Het
Nlrp3	T	G	11: 59,439,862 (GRCm39)	F480V	probably damaging	Het
Nos1ap	A	G	1: 170,146,127 (GRCm39)	W476R	possibly damaging	Het
Nr1h4	T	A	10: 89,316,421 (GRCm39)	T220S	possibly damaging	Het
Ntf5	G	T	7: 45,065,176 (GRCm39)	V103L	probably damaging	Het
Ntm	C	A	9: 29,090,393 (GRCm39)	D109Y	probably damaging	Het
Or7e178	C	T	9: 20,226,142 (GRCm39)	E17K	probably benign	Het
P2rx7	G	A	5: 122,819,015 (GRCm39)	C479Y	probably damaging	Het
Pappa2	T	A	1: 158,631,073 (GRCm39)		probably null	Het
Pgap1	A	C	1: 54,551,120 (GRCm39)	I520R	probably benign	Het
Pikfyve	G	A	1: 65,231,454 (GRCm39)		probably null	Het
Plekhg3	T	C	12: 76,622,991 (GRCm39)	S744P	probably benign	Het
Pramel6	A	G	2: 87,339,526 (GRCm39)	R97G	probably damaging	Het
Pramel6	G	T	2: 87,339,527 (GRCm39)	R97M	probably damaging	Het
Psme4	T	C	11: 30,760,922 (GRCm39)	V397A	probably damaging	Het
Ptk2b	T	C	14: 66,396,119 (GRCm39)	D783G	probably damaging	Het
Ptma-ps1	T	A	7: 23,763,306 (GRCm39)	L17*	probably null	Het
Ralgapa2	C	A	2: 146,229,621 (GRCm39)	R1053L	probably damaging	Het
Sap130	C	T	18: 31,813,620 (GRCm39)	P559L	possibly damaging	Het
Sap30	T	C	8: 57,940,345 (GRCm39)	S86G	probably damaging	Het
Sdk2	C	T	11: 113,729,472 (GRCm39)		silent	Het
Sema3f	G	T	9: 107,561,575 (GRCm39)	Q500K	probably damaging	Het
Serpinb3d	T	C	1: 107,007,014 (GRCm39)	I231M	possibly damaging	Het
Sf3a1	T	A	11: 4,126,678 (GRCm39)	N563K	probably benign	Het
Sipa1l3	A	G	7: 29,038,592 (GRCm39)	S352P	possibly damaging	Het
Slc6a12	G	T	6: 121,324,402 (GRCm39)	E9*	probably null	Het
Srebf1	T	C	11: 60,095,319 (GRCm39)	D400G	probably damaging	Het
Swsap1	T	C	9: 21,867,988 (GRCm39)	Y87H	probably damaging	Het
Tanc2	G	A	11: 105,813,689 (GRCm39)	G1711D	possibly damaging	Het
Tas2r107	T	C	6: 131,636,951 (GRCm39)	M33V	probably benign	Het
Tdrd9	T	A	12: 112,030,061 (GRCm39)		probably benign	Het
Tdrp	T	C	8: 14,004,079 (GRCm39)	D86G	probably damaging	Het
Tmem92	A	T	11: 94,669,501 (GRCm39)	M106K	probably benign	Het
Tmf1	A	T	6: 97,138,440 (GRCm39)	C764S	possibly damaging	Het
Ttc21a	G	T	9: 119,795,823 (GRCm39)	R1219L	possibly damaging	Het
Ttn	C	T	2: 76,593,792 (GRCm39)	G18870D	probably damaging	Het
Tubgcp6	T	C	15: 88,984,811 (GRCm39)	Y1732C	probably damaging	Het
Vmn1r28	A	G	6: 58,242,912 (GRCm39)	T252A	probably benign	Het
Xirp2	A	G	2: 67,346,700 (GRCm39)	I2980M	probably damaging	Het
Zc2hc1c	A	G	12: 85,337,288 (GRCm39)	D315G	probably benign	Het

Other mutations in Golm1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01116:Golm1	APN	13	59,797,470 (GRCm39)	missense	probably damaging	0.99
IGL01327:Golm1	APN	13	59,792,958 (GRCm39)	missense	possibly damaging	0.95
IGL02348:Golm1	APN	13	59,786,191 (GRCm39)	missense	probably benign	0.00
R0047:Golm1	UTSW	13	59,792,914 (GRCm39)	missense	probably benign	0.03
R0047:Golm1	UTSW	13	59,792,914 (GRCm39)	missense	probably benign	0.03
R0458:Golm1	UTSW	13	59,812,178 (GRCm39)	missense	probably damaging	0.98
R0989:Golm1	UTSW	13	59,787,997 (GRCm39)	missense	probably benign	0.01
R1301:Golm1	UTSW	13	59,786,187 (GRCm39)	missense	probably damaging	0.99
R1804:Golm1	UTSW	13	59,790,203 (GRCm39)	critical splice acceptor site	probably null
R1940:Golm1	UTSW	13	59,790,051 (GRCm39)	splice site	probably benign
R2086:Golm1	UTSW	13	59,792,999 (GRCm39)	nonsense	probably null
R2513:Golm1	UTSW	13	59,790,072 (GRCm39)	missense	probably benign	0.01
R2887:Golm1	UTSW	13	59,788,044 (GRCm39)	missense	probably benign	0.00
R3903:Golm1	UTSW	13	59,786,154 (GRCm39)	missense	probably damaging	1.00
R4154:Golm1	UTSW	13	59,790,167 (GRCm39)	missense	probably benign	0.01
R5580:Golm1	UTSW	13	59,790,179 (GRCm39)	missense	probably benign	0.03
R6193:Golm1	UTSW	13	59,792,972 (GRCm39)	missense	probably benign	0.00
R6418:Golm1	UTSW	13	59,813,375 (GRCm39)	missense	probably damaging	1.00
R6594:Golm1	UTSW	13	59,812,041 (GRCm39)	missense	possibly damaging	0.79
R6604:Golm1	UTSW	13	59,786,197 (GRCm39)	missense	probably damaging	1.00
R6967:Golm1	UTSW	13	59,797,390 (GRCm39)	small deletion	probably benign
R6968:Golm1	UTSW	13	59,797,390 (GRCm39)	small deletion	probably benign
R6991:Golm1	UTSW	13	59,797,390 (GRCm39)	small deletion	probably benign
R6992:Golm1	UTSW	13	59,797,390 (GRCm39)	small deletion	probably benign
R6993:Golm1	UTSW	13	59,797,390 (GRCm39)	small deletion	probably benign
R6996:Golm1	UTSW	13	59,790,058 (GRCm39)	missense	probably benign	0.00
R7576:Golm1	UTSW	13	59,792,920 (GRCm39)	missense	probably benign	0.00
R7692:Golm1	UTSW	13	59,788,071 (GRCm39)	missense	probably benign	0.08
R7863:Golm1	UTSW	13	59,797,383 (GRCm39)	missense	probably damaging	1.00
R7948:Golm1	UTSW	13	59,812,011 (GRCm39)	critical splice donor site	probably null
R9519:Golm1	UTSW	13	59,792,914 (GRCm39)	missense	probably benign
R9703:Golm1	UTSW	13	59,797,433 (GRCm39)	missense	probably benign	0.39
X0026:Golm1	UTSW	13	59,786,127 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AGTATACCAGCCCACCCCTTT -3'
(R):5'- CATGAGCTACTCTTTTAGTCCTGT -3'

Sequencing Primer
(F):5'- ATCGTGAGTTGGATCCCAGAC -3'
(R):5'- GTGCTTGTTTCAACTCCAGG -3'

Posted On

2014-07-14