Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01154:Tram1'

50368

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Tram1

Ensembl Gene

ENSMUSG00000025935

Gene Name

translocating chain-associating membrane protein 1

Synonyms

TRAMP, 1810049E02Rik

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.596) question?

Stock #

IGL01154

Quality Score

Status

Chromosome

Chromosomal Location

13564698-13589910 bp(-) (GRCm38)

Type of Mutation

critical splice donor site (1 bp from exon)

DNA Base Change (assembly)

C to T at 13579449 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000027068 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000027068] [ENSMUST00000188377]

AlphaFold

Q91V04

Predicted Effect

probably null
Transcript: ENSMUST00000027068

SMART Domains

Protein: ENSMUSP00000027068
Gene: ENSMUSG00000025935

Domain	Start	End	E-Value	Type
Pfam:TRAM1	47	115	6.1e-24	PFAM
TLC	117	326	2.36e-54	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000185447

Predicted Effect

probably benign
Transcript: ENSMUST00000188377

SMART Domains

Protein: ENSMUSP00000140499
Gene: ENSMUSG00000025935

Domain	Start	End	E-Value	Type
Blast:TLC	9	58	5e-24	BLAST

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: This gene encodes a multi-pass transmembrane protein of the endoplasmic reticulum (ER). It is involved in the process of cotranslational translocation of secretory proteins into the ER. [provided by RefSeq, Dec 2014]

Allele List at MGI

Other mutations in this stock

Total: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110038F14Rik	G	A	15: 76,950,275	V124I	probably damaging	Het
2210408I21Rik	T	G	13: 77,281,094	F767V	probably benign	Het
A2m	C	A	6: 121,673,542	S1203*	probably null	Het
Abcc3	T	C	11: 94,359,232		probably benign	Het
Adamts13	T	C	2: 27,006,194	Y1200H	probably benign	Het
Aldh1l2	T	C	10: 83,520,373	D51G	probably damaging	Het
Apc2	A	G	10: 80,313,069	E1319G	possibly damaging	Het
Arap3	A	T	18: 37,996,734	S125T	probably benign	Het
Atp2b1	T	A	10: 98,996,888	V417E	probably damaging	Het
Bpifa1	T	A	2: 154,144,000	D78E	probably benign	Het
Catsperb	C	A	12: 101,625,681	A1090E	possibly damaging	Het
Ceacam9	C	A	7: 16,723,961	T138K	probably damaging	Het
Cenpf	T	A	1: 189,680,333	E244D	probably benign	Het
Cep135	A	T	5: 76,606,796		probably benign	Het
Cfap206	C	T	4: 34,721,562	S162N	probably damaging	Het
Col15a1	A	C	4: 47,208,450	T6P	possibly damaging	Het
Cyp11b1	T	A	15: 74,838,534	Q306L	probably benign	Het
Defa22	T	A	8: 21,163,037		probably null	Het
Dnah5	A	T	15: 28,458,656	T4480S	possibly damaging	Het
Fastkd1	T	C	2: 69,690,060		probably null	Het
Flt1	A	G	5: 147,576,156	Y1124H	possibly damaging	Het
Fsd1l	A	G	4: 53,701,074	M469V	probably benign	Het
Fxr2	T	C	11: 69,641,433		probably benign	Het
Gm10801	A	T	2: 98,663,983	Y135F	probably benign	Het
Grm4	A	T	17: 27,434,737	C699*	probably null	Het
Hcn4	A	G	9: 58,859,079	T677A	unknown	Het
Igkv9-123	G	T	6: 67,954,534		probably benign	Het
Irf4	T	A	13: 30,757,421	H253Q	possibly damaging	Het
Jakmip2	T	C	18: 43,590,679		probably benign	Het
Kmt2c	A	G	5: 25,284,399	V1134A	probably damaging	Het
Limch1	G	T	5: 66,745,958	E17*	probably null	Het
Nap1l1	T	A	10: 111,486,675	N72K	probably damaging	Het
Olfr1265	T	C	2: 90,037,468	L183P	probably damaging	Het
Olfr574	T	C	7: 102,948,839	S115P	probably damaging	Het
Otud6b	A	T	4: 14,811,732	Y304N	probably damaging	Het
Pdcd10	A	C	3: 75,541,233	M8R	probably damaging	Het
Ppip5k1	T	C	2: 121,343,179	T404A	probably damaging	Het
Ppp2r2d	C	T	7: 138,882,211	A197V	probably benign	Het
Psg25	C	T	7: 18,524,699	D351N	probably benign	Het
Sbno1	A	T	5: 124,410,249	I87N	probably damaging	Het
Stfa2l1	C	T	16: 36,159,937		probably benign	Het
Sugp2	T	A	8: 70,242,699	D107E	probably damaging	Het
Syne1	G	T	10: 5,360,848	F576L	probably damaging	Het
Syne3	A	G	12: 104,958,069	F357S	probably benign	Het
Tenm2	A	G	11: 36,041,544	L1741P	probably damaging	Het
Tgs1	A	T	4: 3,585,473	K117*	probably null	Het
Trank1	T	A	9: 111,386,400	D1799E	probably benign	Het
Ttc14	A	T	3: 33,803,099	Y198F	probably benign	Het
Ube3b	A	G	5: 114,406,252	N570S	probably null	Het
Ube4b	A	G	4: 149,365,470	F412S	probably benign	Het
Vac14	T	C	8: 110,653,607		probably benign	Het
Vmn2r65	T	C	7: 84,943,521	T493A	probably benign	Het
Zfp408	T	C	2: 91,648,006		probably benign	Het
Zfp580	C	T	7: 5,053,268	T209I	possibly damaging	Het

Other mutations in Tram1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL03071:Tram1	APN	1	13579774	nonsense	probably null
IGL03123:Tram1	APN	1	13589605	missense	probably benign	0.01
R0764:Tram1	UTSW	1	13579709	missense	probably damaging	1.00
R1229:Tram1	UTSW	1	13569552	missense	probably damaging	0.98
R1775:Tram1	UTSW	1	13576456	unclassified	probably benign
R3877:Tram1	UTSW	1	13569603	missense	probably benign	0.01
R4077:Tram1	UTSW	1	13566375	missense	probably benign
R4747:Tram1	UTSW	1	13589646	missense	probably damaging	1.00
R5197:Tram1	UTSW	1	13571902	missense	probably benign	0.19
R5213:Tram1	UTSW	1	13579742	missense	probably damaging	1.00
R5224:Tram1	UTSW	1	13578125	missense	probably benign	0.10
R7362:Tram1	UTSW	1	13589608	missense	probably benign	0.04
R7587:Tram1	UTSW	1	13579547	missense	probably damaging	0.99
R7671:Tram1	UTSW	1	13589644	missense	probably damaging	0.96
R7988:Tram1	UTSW	1	13569975	missense	probably benign	0.04
R9047:Tram1	UTSW	1	13569606	missense	probably benign
R9749:Tram1	UTSW	1	13570014	missense	possibly damaging	0.95
RF015:Tram1	UTSW	1	13579742	missense	probably damaging	1.00

Posted On

2013-06-21