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

Golph2, 2310001L02Rik, D030064E01Rik, PSEC0257, GP73

MMRRC Submission

044560-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.068) question?

Stock #

R6418 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

59782810-59823598 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 59813375 bp (GRCm39)

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: 62,285,441 (GRCm39)	A55V	unknown	Het
Adra1b	T	G	11: 43,667,028 (GRCm39)	D403A	probably benign	Het
Ankdd1b	A	T	13: 96,597,405 (GRCm39)	L9Q	probably damaging	Het
Ankrd17	A	T	5: 90,426,204 (GRCm39)	S789R	possibly damaging	Het
B3galnt1	A	G	3: 69,482,326 (GRCm39)	S312P	probably damaging	Het
C4bp	C	T	1: 130,583,750 (GRCm39)	V73M	probably damaging	Het
Ccdc121rt2	T	C	5: 112,598,019 (GRCm39)	S189P	probably benign	Het
Cenpe	T	A	3: 134,957,305 (GRCm39)	N1854K	probably damaging	Het
Chrm2	A	C	6: 36,500,674 (GRCm39)	Y177S	probably damaging	Het
Clca4b	C	T	3: 144,633,996 (GRCm39)	V140I	probably benign	Het
Csad	A	G	15: 102,087,958 (GRCm39)	S322P	probably damaging	Het
Depdc1b	T	G	13: 108,493,956 (GRCm39)	Y115D	probably damaging	Het
Dnah17	T	C	11: 118,020,023 (GRCm39)	Y8C	probably damaging	Het
Dsg3	T	C	18: 20,656,817 (GRCm39)		probably null	Het
Elf5	A	G	2: 103,269,697 (GRCm39)	T93A	possibly damaging	Het
Eogt	C	T	6: 97,122,353 (GRCm39)	D27N	possibly damaging	Het
Fam118b	T	C	9: 35,146,633 (GRCm39)	D78G	probably damaging	Het
Fhip2a	T	A	19: 57,370,166 (GRCm39)	M470K	probably benign	Het
Frem3	A	G	8: 81,337,781 (GRCm39)	T25A	probably benign	Het
Gab1	C	A	8: 81,515,226 (GRCm39)	R364L	possibly damaging	Het
Has1	A	T	17: 18,070,207 (GRCm39)	V238E	probably damaging	Het
Hkdc1	T	C	10: 62,219,583 (GRCm39)	R907G	possibly damaging	Het
Igkv4-61	C	A	6: 69,394,138 (GRCm39)	A31S	possibly damaging	Het
Krtap24-1	C	T	16: 88,408,761 (GRCm39)	V122I	probably damaging	Het
Lrrc10	T	G	10: 116,881,616 (GRCm39)	L97V	probably damaging	Het
Map3k20	T	A	2: 72,232,457 (GRCm39)	M371K	probably benign	Het
Mis18bp1	A	T	12: 65,205,317 (GRCm39)	M2K	possibly damaging	Het
Mob3b	T	A	4: 34,954,049 (GRCm39)		probably null	Het
Muc4	A	G	16: 32,570,607 (GRCm39)	T556A	possibly damaging	Het
Muc6	A	C	7: 141,224,032 (GRCm39)		probably benign	Het
Ncapg	A	T	5: 45,839,158 (GRCm39)	L519F	probably damaging	Het
Nfix	A	G	8: 85,453,778 (GRCm39)	S265P	probably benign	Het
Or13p10	T	A	4: 118,522,808 (GRCm39)	F31L	possibly damaging	Het
Or4c121	T	C	2: 89,023,823 (GRCm39)	K185R	probably damaging	Het
Or4k49	T	C	2: 111,494,817 (GRCm39)	V82A	probably benign	Het
Or52e5	T	C	7: 104,719,514 (GRCm39)	L280P	probably damaging	Het
Or8g35	C	A	9: 39,381,112 (GRCm39)	K303N	probably benign	Het
Osgin2	T	C	4: 16,006,410 (GRCm39)	T95A	probably benign	Het
Parp4	T	C	14: 56,858,108 (GRCm39)		probably null	Het
Pcdh7	G	A	5: 57,879,046 (GRCm39)	G867D	probably damaging	Het
Pcdhb22	T	C	18: 37,652,959 (GRCm39)	S476P	possibly damaging	Het
Phldb1	A	G	9: 44,623,197 (GRCm39)	I619T	probably damaging	Het
Ppp1r13l	C	T	7: 19,105,256 (GRCm39)	R343C	probably damaging	Het
Rab2b	T	A	14: 52,506,164 (GRCm39)		probably benign	Het
Rims2	A	T	15: 39,373,092 (GRCm39)	E972V	probably damaging	Het
Slc26a9	G	T	1: 131,686,228 (GRCm39)	C337F	probably benign	Het
Spty2d1	A	G	7: 46,647,751 (GRCm39)	S393P	probably damaging	Het
Stkld1	A	T	2: 26,831,093 (GRCm39)	N90I	possibly damaging	Het
Svep1	T	A	4: 58,053,126 (GRCm39)	R3406S	probably benign	Het
Svil	A	T	18: 5,040,171 (GRCm39)	D48V	probably benign	Het
Thsd7a	T	A	6: 12,555,081 (GRCm39)	K268*	probably null	Het
Tmc6	A	G	11: 117,661,326 (GRCm39)	L618P	probably damaging	Het
Tmem231	G	A	8: 112,653,524 (GRCm39)		probably benign	Het
Ube2q2l	C	A	6: 136,378,099 (GRCm39)	D244Y	probably damaging	Het
Ubn1	A	G	16: 4,899,791 (GRCm39)	H1101R	probably benign	Het
Upf2	G	A	2: 6,032,150 (GRCm39)	V899I	unknown	Het
Ush2a	A	T	1: 188,360,763 (GRCm39)	N2161I	probably damaging	Het
Usp25	A	T	16: 76,859,330 (GRCm39)	D276V	probably damaging	Het
Vmn2r68	T	A	7: 84,882,915 (GRCm39)	H279L	probably benign	Het
Vps13d	G	A	4: 144,818,850 (GRCm39)	R3019W	probably damaging	Het
Vsig10	A	T	5: 117,486,361 (GRCm39)	E423D	probably benign	Het
Wdfy2	T	A	14: 63,162,582 (GRCm39)	F95I	probably benign	Het
Xrn1	A	G	9: 95,915,763 (GRCm39)		probably null	Het
Zdhhc13	A	G	7: 48,461,149 (GRCm39)	T362A	possibly damaging	Het
Zfp984	C	T	4: 147,845,703 (GRCm39)	S2N	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
R1905:Golm1	UTSW	13	59,790,065 (GRCm39)	missense	probably benign	0.04
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
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'- CGCAACTCAGTAGTCACAGAGG -3'
(R):5'- ACTGAAGATGGATGTGGTCTGC -3'

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

Posted On

2018-05-24