Mutagenetix > Incidental Mutation

Incidental Mutation 'R0764:Tram1'

72537

Institutional Source

Beutler Lab

Gene Symbol

Tram1

Ensembl Gene

ENSMUSG00000025935

Gene Name

translocating chain-associating membrane protein 1

Synonyms

TRAMP, 1810049E02Rik

MMRRC Submission

038944-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.578) question?

Stock #

R0764 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

13634922-13660134 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 13649933 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 97 (I97T)

Ref Sequence

ENSEMBL: ENSMUSP00000027068 (fasta)

Gene Model

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

AlphaFold

Q91V04

Predicted Effect

probably damaging
Transcript: ENSMUST00000027068
AA Change: I97T

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000027068
Gene: ENSMUSG00000025935
AA Change: I97T

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

Meta Mutation Damage Score

0.2533

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.2%
20x: 94.1%

Validation Efficiency

98% (48/49)

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: 43 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca8a	A	T	11: 109,950,772 (GRCm39)	Y898N	probably damaging	Het
Acp4	T	C	7: 43,901,738 (GRCm39)		probably benign	Het
Adipor2	T	C	6: 119,334,215 (GRCm39)	I332V	probably benign	Het
Ago3	T	A	4: 126,248,885 (GRCm39)	K555N	possibly damaging	Het
Angpt4	A	G	2: 151,753,204 (GRCm39)		probably benign	Het
Ano5	G	T	7: 51,187,590 (GRCm39)		probably benign	Het
Ap3b1	C	T	13: 94,616,387 (GRCm39)		probably benign	Het
Cbl	A	T	9: 44,075,449 (GRCm39)	C399S	probably damaging	Het
Cdkl2	C	A	5: 92,168,136 (GRCm39)	V353L	probably benign	Het
Celsr3	A	G	9: 108,705,017 (GRCm39)	Y500C	probably damaging	Het
Cep162	A	G	9: 87,083,798 (GRCm39)	S1242P	probably damaging	Het
Crhr1	C	T	11: 104,050,152 (GRCm39)	R66W	probably damaging	Het
Ddx49	T	C	8: 70,749,907 (GRCm39)	E170G	probably benign	Het
Fam193a	T	C	5: 34,600,685 (GRCm39)	F305L	probably damaging	Het
Fam76a	C	T	4: 132,638,010 (GRCm39)	G198R	probably damaging	Het
Gm43302	T	A	5: 105,428,355 (GRCm39)	I130F	probably benign	Het
Hectd4	T	A	5: 121,424,832 (GRCm39)	I745N	possibly damaging	Het
Ina	T	A	19: 47,012,087 (GRCm39)	*502K	probably null	Het
Kdm1b	A	T	13: 47,222,079 (GRCm39)	D506V	possibly damaging	Het
Lrrk2	A	G	15: 91,659,249 (GRCm39)		probably null	Het
Ly6g2	T	A	15: 75,092,572 (GRCm39)	F97Y	probably benign	Het
Naip5	A	T	13: 100,353,613 (GRCm39)	D1215E	probably benign	Het
Neb	A	G	2: 52,106,879 (GRCm39)		probably benign	Het
Nectin2	T	A	7: 19,483,096 (GRCm39)		probably null	Het
Nup155	A	T	15: 8,187,244 (GRCm39)	H1391L	probably damaging	Het
Or2aj5	G	T	16: 19,425,182 (GRCm39)	P79T	probably damaging	Het
Or4a71	A	G	2: 89,358,340 (GRCm39)	V138A	probably benign	Het
Osbp	A	G	19: 11,961,520 (GRCm39)		probably benign	Het
Otog	A	G	7: 45,949,918 (GRCm39)	D2460G	probably benign	Het
Pcgf1	T	C	6: 83,056,150 (GRCm39)	C2R	probably damaging	Het
Per2	C	T	1: 91,357,142 (GRCm39)	V674M	probably damaging	Het
Pias3	C	T	3: 96,608,611 (GRCm39)	P218S	probably damaging	Het
Plod3	C	T	5: 137,018,437 (GRCm39)		probably benign	Het
Purb	C	T	11: 6,425,661 (GRCm39)	V76M	probably damaging	Het
Ranbp1	C	A	16: 18,058,022 (GRCm39)	E181*	probably null	Het
Rit2	T	C	18: 31,286,754 (GRCm39)		probably benign	Het
Rnf103	C	A	6: 71,486,566 (GRCm39)	T399K	probably damaging	Het
Slc22a13	T	C	9: 119,037,746 (GRCm39)		probably null	Het
Slc35f4	T	A	14: 49,543,796 (GRCm39)		probably benign	Het
Sucla2	C	T	14: 73,798,074 (GRCm39)		probably benign	Het
Tnfrsf17	C	T	16: 11,133,063 (GRCm39)	T47M	possibly damaging	Het
Ttc38	T	C	15: 85,730,604 (GRCm39)		probably benign	Het
Zfp113	T	A	5: 138,143,506 (GRCm39)	Q248L	probably damaging	Het

Other mutations in Tram1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01154:Tram1	APN	1	13,649,673 (GRCm39)	critical splice donor site	probably null
IGL03071:Tram1	APN	1	13,649,998 (GRCm39)	nonsense	probably null
IGL03123:Tram1	APN	1	13,659,829 (GRCm39)	missense	probably benign	0.01
R1229:Tram1	UTSW	1	13,639,776 (GRCm39)	missense	probably damaging	0.98
R1775:Tram1	UTSW	1	13,646,680 (GRCm39)	unclassified	probably benign
R3877:Tram1	UTSW	1	13,639,827 (GRCm39)	missense	probably benign	0.01
R4077:Tram1	UTSW	1	13,636,599 (GRCm39)	missense	probably benign
R4747:Tram1	UTSW	1	13,659,870 (GRCm39)	missense	probably damaging	1.00
R5197:Tram1	UTSW	1	13,642,126 (GRCm39)	missense	probably benign	0.19
R5213:Tram1	UTSW	1	13,649,966 (GRCm39)	missense	probably damaging	1.00
R5224:Tram1	UTSW	1	13,648,349 (GRCm39)	missense	probably benign	0.10
R7362:Tram1	UTSW	1	13,659,832 (GRCm39)	missense	probably benign	0.04
R7587:Tram1	UTSW	1	13,649,771 (GRCm39)	missense	probably damaging	0.99
R7671:Tram1	UTSW	1	13,659,868 (GRCm39)	missense	probably damaging	0.96
R7988:Tram1	UTSW	1	13,640,199 (GRCm39)	missense	probably benign	0.04
R9047:Tram1	UTSW	1	13,639,830 (GRCm39)	missense	probably benign
R9749:Tram1	UTSW	1	13,640,238 (GRCm39)	missense	possibly damaging	0.95
RF015:Tram1	UTSW	1	13,649,966 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GTAGAATGCACTGAGCTGACCAGAC -3'
(R):5'- GGTTGTCATTTCCCTTTGACCCGAG -3'

Sequencing Primer
(F):5'- GCTGACCAGACTCGTTAAACTTG -3'
(R):5'- CATAACTATGTTGTACCGAGTGCTG -3'

Posted On

2013-09-30