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: 0.578) question?

Stock #

IGL01154

Quality Score

Status

Chromosome

Chromosomal Location

13634922-13660134 bp(-) (GRCm39)

Type of Mutation

critical splice donor site (1 bp from exon)

DNA Base Change (assembly)

C to T at 13649673 bp (GRCm39)

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: 76,834,475 (GRCm39)	V124I	probably damaging	Het
2210408I21Rik	T	G	13: 77,429,213 (GRCm39)	F767V	probably benign	Het
A2m	C	A	6: 121,650,501 (GRCm39)	S1203*	probably null	Het
Abcc3	T	C	11: 94,250,058 (GRCm39)		probably benign	Het
Adamts13	T	C	2: 26,896,206 (GRCm39)	Y1200H	probably benign	Het
Aldh1l2	T	C	10: 83,356,237 (GRCm39)	D51G	probably damaging	Het
Apc2	A	G	10: 80,148,903 (GRCm39)	E1319G	possibly damaging	Het
Arap3	A	T	18: 38,129,787 (GRCm39)	S125T	probably benign	Het
Atp2b1	T	A	10: 98,832,750 (GRCm39)	V417E	probably damaging	Het
Bpifa1	T	A	2: 153,985,920 (GRCm39)	D78E	probably benign	Het
Catsperb	C	A	12: 101,591,940 (GRCm39)	A1090E	possibly damaging	Het
Ceacam9	C	A	7: 16,457,886 (GRCm39)	T138K	probably damaging	Het
Cenpf	T	A	1: 189,412,530 (GRCm39)	E244D	probably benign	Het
Cep135	A	T	5: 76,754,643 (GRCm39)		probably benign	Het
Cfap206	C	T	4: 34,721,562 (GRCm39)	S162N	probably damaging	Het
Col15a1	A	C	4: 47,208,450 (GRCm39)	T6P	possibly damaging	Het
Cyp11b1	T	A	15: 74,710,383 (GRCm39)	Q306L	probably benign	Het
Defa22	T	A	8: 21,653,053 (GRCm39)		probably null	Het
Dnah5	A	T	15: 28,458,802 (GRCm39)	T4480S	possibly damaging	Het
Fastkd1	T	C	2: 69,520,404 (GRCm39)		probably null	Het
Flt1	A	G	5: 147,512,966 (GRCm39)	Y1124H	possibly damaging	Het
Fsd1l	A	G	4: 53,701,074 (GRCm39)	M469V	probably benign	Het
Fxr2	T	C	11: 69,532,259 (GRCm39)		probably benign	Het
Gm10801	A	T	2: 98,494,328 (GRCm39)	Y135F	probably benign	Het
Grm4	A	T	17: 27,653,711 (GRCm39)	C699*	probably null	Het
Hcn4	A	G	9: 58,766,362 (GRCm39)	T677A	unknown	Het
Igkv9-123	G	T	6: 67,931,518 (GRCm39)		probably benign	Het
Irf4	T	A	13: 30,941,404 (GRCm39)	H253Q	possibly damaging	Het
Jakmip2	T	C	18: 43,723,744 (GRCm39)		probably benign	Het
Kmt2c	A	G	5: 25,489,397 (GRCm39)	V1134A	probably damaging	Het
Limch1	G	T	5: 66,903,301 (GRCm39)	E17*	probably null	Het
Nap1l1	T	A	10: 111,322,536 (GRCm39)	N72K	probably damaging	Het
Or4x11	T	C	2: 89,867,812 (GRCm39)	L183P	probably damaging	Het
Or51t4	T	C	7: 102,598,046 (GRCm39)	S115P	probably damaging	Het
Otud6b	A	T	4: 14,811,732 (GRCm39)	Y304N	probably damaging	Het
Pdcd10	A	C	3: 75,448,540 (GRCm39)	M8R	probably damaging	Het
Ppip5k1	T	C	2: 121,173,660 (GRCm39)	T404A	probably damaging	Het
Ppp2r2d	C	T	7: 138,483,940 (GRCm39)	A197V	probably benign	Het
Psg25	C	T	7: 18,258,624 (GRCm39)	D351N	probably benign	Het
Sbno1	A	T	5: 124,548,312 (GRCm39)	I87N	probably damaging	Het
Stfa2l1	C	T	16: 35,980,307 (GRCm39)		probably benign	Het
Sugp2	T	A	8: 70,695,349 (GRCm39)	D107E	probably damaging	Het
Syne1	G	T	10: 5,310,848 (GRCm39)	F576L	probably damaging	Het
Syne3	A	G	12: 104,924,328 (GRCm39)	F357S	probably benign	Het
Tenm2	A	G	11: 35,932,371 (GRCm39)	L1741P	probably damaging	Het
Tgs1	A	T	4: 3,585,473 (GRCm39)	K117*	probably null	Het
Trank1	T	A	9: 111,215,468 (GRCm39)	D1799E	probably benign	Het
Ttc14	A	T	3: 33,857,248 (GRCm39)	Y198F	probably benign	Het
Ube3b	A	G	5: 114,544,313 (GRCm39)	N570S	probably null	Het
Ube4b	A	G	4: 149,449,927 (GRCm39)	F412S	probably benign	Het
Vac14	T	C	8: 111,380,239 (GRCm39)		probably benign	Het
Vmn2r65	T	C	7: 84,592,729 (GRCm39)	T493A	probably benign	Het
Zfp408	T	C	2: 91,478,351 (GRCm39)		probably benign	Het
Zfp580	C	T	7: 5,056,267 (GRCm39)	T209I	possibly damaging	Het

Other mutations in Tram1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL03071:Tram1	APN	1	13,649,998 (GRCm39)	nonsense	probably null
IGL03123:Tram1	APN	1	13,659,829 (GRCm39)	missense	probably benign	0.01
R0764:Tram1	UTSW	1	13,649,933 (GRCm39)	missense	probably damaging	1.00
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

Posted On

2013-06-21