Mutagenetix > Incidental Mutation

Incidental Mutation 'R6418:Golm1'

518089

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 #

R6418 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

59634626-59675811 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 59665561 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 32 (Y32C)

Ref Sequence

ENSEMBL: ENSMUSP00000093410 (fasta)

Gene Model

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

AlphaFold

Q91XA2

Predicted Effect

probably damaging
Transcript: ENSMUST00000022039
AA Change: Y32C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000022039
Gene: ENSMUSG00000021556
AA Change: Y32C

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000095739
AA Change: Y32C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000093410
Gene: ENSMUSG00000021556
AA Change: Y32C

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

0.7272

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.0%
20x: 93.8%

Validation Efficiency

99% (67/68)

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: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930507D05Rik	C	T	10: 62,449,662	A55V	unknown	Het
Adra1b	T	G	11: 43,776,201	D403A	probably benign	Het
Ankdd1b	A	T	13: 96,460,897	L9Q	probably damaging	Het
Ankrd17	A	T	5: 90,278,345	S789R	possibly damaging	Het
B3galnt1	A	G	3: 69,574,993	S312P	probably damaging	Het
C4bp	C	T	1: 130,656,013	V73M	probably damaging	Het
Cenpe	T	A	3: 135,251,544	N1854K	probably damaging	Het
Chrm2	A	C	6: 36,523,739	Y177S	probably damaging	Het
Clca4b	C	T	3: 144,928,235	V140I	probably benign	Het
Csad	A	G	15: 102,179,523	S322P	probably damaging	Het
Depdc1b	T	G	13: 108,357,422	Y115D	probably damaging	Het
Dnah17	T	C	11: 118,129,197	Y8C	probably damaging	Het
Dsg3	T	C	18: 20,523,760		probably null	Het
E330021D16Rik	C	A	6: 136,401,101	D244Y	probably damaging	Het
Elf5	A	G	2: 103,439,352	T93A	possibly damaging	Het
Eogt	C	T	6: 97,145,392	D27N	possibly damaging	Het
Fam118b	T	C	9: 35,235,337	D78G	probably damaging	Het
Fam160b1	T	A	19: 57,381,734	M470K	probably benign	Het
Frem3	A	G	8: 80,611,152	T25A	probably benign	Het
Gab1	C	A	8: 80,788,597	R364L	possibly damaging	Het
Gm6588	T	C	5: 112,450,153	S189P	probably benign	Het
Has1	A	T	17: 17,849,945	V238E	probably damaging	Het
Hkdc1	T	C	10: 62,383,804	R907G	possibly damaging	Het
Igkv4-61	C	A	6: 69,417,154	A31S	possibly damaging	Het
Krtap24-1	C	T	16: 88,611,873	V122I	probably damaging	Het
Lrrc10	T	G	10: 117,045,711	L97V	probably damaging	Het
Map3k20	T	A	2: 72,402,113	M371K	probably benign	Het
Mis18bp1	A	T	12: 65,158,543	M2K	possibly damaging	Het
Mob3b	T	A	4: 34,954,049		probably null	Het
Muc4	A	G	16: 32,751,789	T556A	possibly damaging	Het
Muc6	A	C	7: 141,639,610		probably benign	Het
Ncapg	A	T	5: 45,681,816	L519F	probably damaging	Het
Nfix	A	G	8: 84,727,149	S265P	probably benign	Het
Olfr1226	T	C	2: 89,193,479	K185R	probably damaging	Het
Olfr1299	T	C	2: 111,664,472	V82A	probably benign	Het
Olfr62	T	A	4: 118,665,611	F31L	possibly damaging	Het
Olfr678	T	C	7: 105,070,307	L280P	probably damaging	Het
Olfr955	C	A	9: 39,469,816	K303N	probably benign	Het
Osgin2	T	C	4: 16,006,410	T95A	probably benign	Het
Parp4	T	C	14: 56,620,651		probably null	Het
Pcdh7	G	A	5: 57,721,704	G867D	probably damaging	Het
Pcdhb22	T	C	18: 37,519,906	S476P	possibly damaging	Het
Phldb1	A	G	9: 44,711,900	I619T	probably damaging	Het
Ppp1r13l	C	T	7: 19,371,331	R343C	probably damaging	Het
Rab2b	T	A	14: 52,268,707		probably benign	Het
Rims2	A	T	15: 39,509,696	E972V	probably damaging	Het
Slc26a9	G	T	1: 131,758,490	C337F	probably benign	Het
Spty2d1	A	G	7: 46,998,003	S393P	probably damaging	Het
Stkld1	A	T	2: 26,941,081	N90I	possibly damaging	Het
Svep1	T	A	4: 58,053,126	R3406S	probably benign	Het
Svil	A	T	18: 5,040,171	D48V	probably benign	Het
Thsd7a	T	A	6: 12,555,082	K268*	probably null	Het
Tmc6	A	G	11: 117,770,500	L618P	probably damaging	Het
Tmem231	G	A	8: 111,926,892		probably benign	Het
Ubn1	A	G	16: 5,081,927	H1101R	probably benign	Het
Upf2	G	A	2: 6,027,339	V899I	unknown	Het
Ush2a	A	T	1: 188,628,566	N2161I	probably damaging	Het
Usp25	A	T	16: 77,062,442	D276V	probably damaging	Het
Vmn2r68	T	A	7: 85,233,707	H279L	probably benign	Het
Vps13d	G	A	4: 145,092,280	R3019W	probably damaging	Het
Vsig10	A	T	5: 117,348,296	E423D	probably benign	Het
Wdfy2	T	A	14: 62,925,133	F95I	probably benign	Het
Xrn1	A	G	9: 96,033,710		probably null	Het
Zdhhc13	A	G	7: 48,811,401	T362A	possibly damaging	Het
Zfp984	C	T	4: 147,761,246	S2N	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
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
R6996:Golm1	UTSW	13	59642244	missense	probably benign	0.00
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'- CGCAACTCAGTAGTCACAGAGG -3'
(R):5'- ACTGAAGATGGATGTGGTCTGC -3'

Sequencing Primer
(F):5'- CTCAGTAGTCACAGAGGAAGTG -3'
(R):5'- CTTCGGGGATGCTAGGCTTAG -3'

Posted On

2018-05-24