Mutagenetix > Incidental Mutation

Incidental Mutation 'R6996:Golm1'

544234

Institutional Source

Beutler Lab

Gene Symbol

Golm1

Ensembl Gene

ENSMUSG00000021556

Gene Name

golgi membrane protein 1

Synonyms

2310001L02Rik, GP73, PSEC0257, D030064E01Rik, Golph2

MMRRC Submission

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.056) question?

Stock #

R6996 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

59634626-59675811 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 59642244 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Lysine at position 247 (N247K)

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: N247K

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000022039
Gene: ENSMUSG00000021556
AA Change: N247K

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: N247K

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000093410
Gene: ENSMUSG00000021556
AA Change: N247K

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

Validation Efficiency

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: 77 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam5	G	A	8: 24,806,501	S310L	probably damaging	Het
Adamts16	C	T	13: 70,798,038		probably null	Het
Arrb1	C	A	7: 99,591,362	D194E	probably benign	Het
Atp1a3	T	C	7: 24,997,626	D217G	probably damaging	Het
Bcar3	A	G	3: 122,508,384	I123V	possibly damaging	Het
Bdp1	G	A	13: 100,043,813	L1833F	probably damaging	Het
Cdc14a	T	C	3: 116,328,706	Y155C	probably damaging	Het
Cdo1	C	A	18: 46,720,313	R126M	possibly damaging	Het
Cfap99	G	T	5: 34,327,260	R627L	probably damaging	Het
Efr3a	T	A	15: 65,848,181	L369*	probably null	Het
Erich6	A	C	3: 58,636,095	F185V	probably damaging	Het
Fam186a	T	C	15: 99,955,493	D122G	unknown	Het
Fank1	A	G	7: 133,876,898	I230M	possibly damaging	Het
Flg2	A	T	3: 93,202,670	E668D	unknown	Het
Flg2	A	C	3: 93,202,949	R761S	unknown	Het
Gabrr1	T	C	4: 33,158,157	L260P	probably damaging	Het
Gfm2	G	A	13: 97,149,360	R119K	probably damaging	Het
Gm14226	A	G	2: 155,024,437	T105A	probably benign	Het
Gm14496	A	G	2: 181,996,204	N357S	probably damaging	Het
Gm5916	G	A	9: 36,128,639	L18F	probably benign	Het
Gm884	A	T	11: 103,618,757	L795*	probably null	Het
Gpatch2l	G	A	12: 86,244,184	R47H	probably damaging	Het
Greb1	C	T	12: 16,723,354	A240T	probably benign	Het
Gtf3c6	T	C	10: 40,249,778	M148V	probably benign	Het
Guca1a	T	C	17: 47,395,177	S126G	probably benign	Het
Hacl1	A	T	14: 31,615,423	I393N	possibly damaging	Het
Hddc3	A	G	7: 80,343,750	D68G	possibly damaging	Het
Hsfy2	T	C	1: 56,636,410	T323A	possibly damaging	Het
Kcng2	T	C	18: 80,323,143		probably benign	Het
Kdm2a	G	T	19: 4,345,641	P321T	probably benign	Het
Krt31	A	G	11: 100,047,732	V345A	probably benign	Het
Mettl1	T	C	10: 127,045,018	S193P	probably benign	Het
Mme	G	A	3: 63,346,102	D456N	possibly damaging	Het
Mmrn1	A	G	6: 60,977,383	T883A	probably benign	Het
Mphosph10	C	G	7: 64,388,921	E293Q	probably benign	Het
Muc16	C	A	9: 18,645,897	K3033N	unknown	Het
Myo16	C	T	8: 10,569,496	T1349M	probably damaging	Het
Myo5c	T	C	9: 75,250,464	I233T	probably benign	Het
Olfr1356	C	A	10: 78,847,517	V133L	probably benign	Het
Olfr1465	A	T	19: 13,313,672	S204R	probably benign	Het
Olfr190	A	G	16: 59,074,192	M296T	probably benign	Het
Olfr475-ps1	A	G	2: 88,623,845	T181A	unknown	Het
Olfr622	T	G	7: 103,639,858	N94T	probably benign	Het
Olfr655	A	T	7: 104,596,811	F123L	probably benign	Het
Olfr791	T	A	10: 129,526,863	V212E	probably damaging	Het
Oxct2b	A	G	4: 123,117,687	I467V	probably benign	Het
Parp1	A	T	1: 180,587,371	N425Y	possibly damaging	Het
Pcdhgc3	T	A	18: 37,806,603	V19D	possibly damaging	Het
Pfkl	T	A	10: 77,997,589	I260F	probably damaging	Het
Pkd1l1	C	T	11: 8,849,046	G1789R	probably damaging	Het
Pla1a	G	A	16: 38,397,468	A386V	probably benign	Het
Pml	A	G	9: 58,234,886	L221P	probably damaging	Het
Rcn2	C	T	9: 56,057,561	Q268*	probably null	Het
Reps1	T	A	10: 18,093,855	D235E	probably damaging	Het
Rsf1	CGGCGGCGG	CGGCGGCGGGGGCGGCGG	7: 97,579,911		probably benign	Het
Sap30bp	A	G	11: 115,933,488		probably benign	Het
Scn1a	A	T	2: 66,287,731	S1433T	probably damaging	Het
Sde2	T	C	1: 180,851,189	V6A	probably benign	Het
Sdk1	C	A	5: 142,212,014	R2141S	probably benign	Het
Setd2	T	C	9: 110,550,572	S1152P	probably damaging	Het
Slc26a2	C	T	18: 61,201,854	V176I	probably damaging	Het
Snx7	A	G	3: 117,846,632	I76T	possibly damaging	Het
Specc1l	C	A	10: 75,246,279	A520D	probably benign	Het
Spop	A	G	11: 95,471,310	T56A	possibly damaging	Het
Syne2	T	A	12: 76,028,012	D4576E	probably damaging	Het
Tas2r134	A	C	2: 51,627,589	M27L	probably benign	Het
Tecta	A	C	9: 42,366,786	I1142S	probably benign	Het
Timm44	T	C	8: 4,266,611	D311G	possibly damaging	Het
Tmem123	C	G	9: 7,791,070	T124R	possibly damaging	Het
Tmem184b	A	T	15: 79,362,759	L370Q	probably benign	Het
Trim25	T	A	11: 88,999,503	N5K	probably benign	Het
Vmn2r93	A	G	17: 18,304,641	Y187C	probably damaging	Het
Vpreb1	A	G	16: 16,868,814	Y71H	probably damaging	Het
Vpreb2	T	C	16: 17,980,577	S5P	probably benign	Het
Xpo7	A	T	14: 70,669,448	C939S	probably benign	Het
Zfp78	C	A	7: 6,378,765	S271R	probably benign	Het
Zic5	A	T	14: 122,464,668	M217K	probably benign	Het

Other mutations in Golm1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01116:Golm1	APN	13	59649656	missense	probably damaging	0.99
IGL01327:Golm1	APN	13	59645144	missense	possibly damaging	0.95
IGL02348:Golm1	APN	13	59638377	missense	probably benign	0.00
R0047:Golm1	UTSW	13	59645100	missense	probably benign	0.03
R0047:Golm1	UTSW	13	59645100	missense	probably benign	0.03
R0458:Golm1	UTSW	13	59664364	missense	probably damaging	0.98
R0989:Golm1	UTSW	13	59640183	missense	probably benign	0.01
R1301:Golm1	UTSW	13	59638373	missense	probably damaging	0.99
R1804:Golm1	UTSW	13	59642389	critical splice acceptor site	probably null
R1905:Golm1	UTSW	13	59642251	missense	probably benign	0.04
R1940:Golm1	UTSW	13	59642237	splice site	probably benign
R2086:Golm1	UTSW	13	59645185	nonsense	probably null
R2513:Golm1	UTSW	13	59642258	missense	probably benign	0.01
R2887:Golm1	UTSW	13	59640230	missense	probably benign	0.00
R3903:Golm1	UTSW	13	59638340	missense	probably damaging	1.00
R4154:Golm1	UTSW	13	59642353	missense	probably benign	0.01
R5580:Golm1	UTSW	13	59642365	missense	probably benign	0.03
R6193:Golm1	UTSW	13	59645158	missense	probably benign	0.00
R6418:Golm1	UTSW	13	59665561	missense	probably damaging	1.00
R6594:Golm1	UTSW	13	59664227	missense	possibly damaging	0.79
R6604:Golm1	UTSW	13	59638383	missense	probably damaging	1.00
R6967:Golm1	UTSW	13	59649576	small deletion	probably benign
R6968:Golm1	UTSW	13	59649576	small deletion	probably benign
R6991:Golm1	UTSW	13	59649576	small deletion	probably benign
R6992:Golm1	UTSW	13	59649576	small deletion	probably benign
R6993:Golm1	UTSW	13	59649576	small deletion	probably benign
R7576:Golm1	UTSW	13	59645106	missense	probably benign	0.00
R7692:Golm1	UTSW	13	59640257	missense	probably benign	0.08
R7863:Golm1	UTSW	13	59649569	missense	probably damaging	1.00
R7948:Golm1	UTSW	13	59664197	critical splice donor site	probably null
R9519:Golm1	UTSW	13	59645100	missense	probably benign
R9703:Golm1	UTSW	13	59649619	missense	probably benign	0.39
X0026:Golm1	UTSW	13	59638313	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GTATACCAGCCCACCCCTTT -3'
(R):5'- AGCTACTCTTTTAGTCCTGTGC -3'

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

Posted On

2019-05-13