Mutagenetix > Incidental Mutation

Incidental Mutation 'R8174:Tram1l1'

634225

Institutional Source

Beutler Lab

Gene Symbol

Tram1l1

Ensembl Gene

ENSMUSG00000044528

Gene Name

translocation associated membrane protein 1-like 1

Synonyms

A830091N21Rik

MMRRC Submission

067599-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.100) question?

Stock #

R8174 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

124114686-124116909 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 124115911 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Arginine at position 357 (K357R)

Ref Sequence

ENSEMBL: ENSMUSP00000062635 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000058994]

AlphaFold

Q8QZR0

Predicted Effect

probably benign
Transcript: ENSMUST00000058994
AA Change: K357R

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)

SMART Domains

Protein: ENSMUSP00000062635
Gene: ENSMUSG00000044528
AA Change: K357R

Domain	Start	End	E-Value	Type
Pfam:TRAM1	47	114	4.2e-21	PFAM
TLC	116	324	1.73e-47	SMART

Meta Mutation Damage Score

0.0895

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.5%
20x: 98.4%

Validation Efficiency

100% (40/40)

Allele List at MGI

Other mutations in this stock

Total: 43 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Akap13	A	G	7: 75,378,617 (GRCm39)	N2090S	possibly damaging	Het
Asxl3	T	C	18: 22,650,800 (GRCm39)	S930P	probably benign	Het
Cachd1	T	A	4: 100,823,466 (GRCm39)	I506N	probably damaging	Het
Calm1	G	T	12: 100,171,967 (GRCm39)	V140L	probably benign	Het
Cdsn	A	T	17: 35,866,529 (GRCm39)	K353*	probably null	Het
Cldn11	T	C	3: 31,208,210 (GRCm39)	V125A	probably benign	Het
Ddx60	G	A	8: 62,470,284 (GRCm39)		probably null	Het
Dlg2	A	G	7: 91,589,248 (GRCm39)	I216V	probably benign	Het
Dnah5	A	G	15: 28,311,279 (GRCm39)		probably null	Het
Dnajc28	G	A	16: 91,413,795 (GRCm39)	R150*	probably null	Het
Erap1	A	T	13: 74,794,683 (GRCm39)	Y114F	probably benign	Het
Gm14443	G	A	2: 175,011,468 (GRCm39)	P326L	probably damaging	Het
Gm2042	T	A	12: 87,926,928 (GRCm39)	L415Q	probably damaging	Het
Gm8797	T	C	3: 5,816,094 (GRCm39)	I44T	probably benign	Het
Matn2	C	A	15: 34,422,555 (GRCm39)	F547L	probably benign	Het
Mpc2	T	A	1: 165,308,458 (GRCm39)		probably null	Het
Or5b12b	A	G	19: 12,861,268 (GRCm39)	T8A	probably benign	Het
Or7d10	A	C	9: 19,832,020 (GRCm39)	T172P	probably damaging	Het
Pcnx4	T	A	12: 72,603,687 (GRCm39)	L536Q	probably damaging	Het
Phlpp2	G	A	8: 110,595,321 (GRCm39)	R24H	unknown	Het
Pkmyt1	A	T	17: 23,952,813 (GRCm39)	D123V	probably damaging	Het
Polg	A	T	7: 79,106,466 (GRCm39)	M668K	probably benign	Het
Ppp1r12a	G	T	10: 108,107,598 (GRCm39)	A974S	probably benign	Het
Ppp2r3d	T	C	9: 101,090,501 (GRCm39)		probably benign	Het
Rabl3	T	C	16: 37,377,225 (GRCm39)	Y61H	probably damaging	Het
Rap2a	T	A	14: 120,716,269 (GRCm39)	I44N	probably damaging	Het
Rev3l	T	C	10: 39,735,111 (GRCm39)	V2779A	probably damaging	Het
Rnf43	G	T	11: 87,622,057 (GRCm39)	R259L	probably benign	Het
Rspry1	T	A	8: 95,376,450 (GRCm39)	L448Q	probably damaging	Het
Slc43a2	T	G	11: 75,434,193 (GRCm39)		probably null	Het
Slc6a5	A	G	7: 49,598,057 (GRCm39)	I640M	probably benign	Het
Sp140l1	T	G	1: 85,077,261 (GRCm39)	S102R	probably damaging	Het
Srrm2	C	T	17: 24,034,297 (GRCm39)	P314S	unknown	Het
Strn4	C	T	7: 16,562,733 (GRCm39)	R291C	probably damaging	Het
Syt4	T	A	18: 31,577,230 (GRCm39)	R41S	probably benign	Het
Tfb1m	T	C	17: 3,569,855 (GRCm39)	D337G	probably benign	Het
Togaram1	G	T	12: 65,029,465 (GRCm39)	D963Y	possibly damaging	Het
Tpsg1	T	C	17: 25,591,564 (GRCm39)	C55R	probably damaging	Het
Veph1	A	G	3: 66,171,316 (GRCm39)	I42T	probably damaging	Het
Vps13b	C	G	15: 35,709,456 (GRCm39)	S1801*	probably null	Het
Zcwpw1	G	A	5: 137,817,839 (GRCm39)		probably null	Het
Zfp266	G	A	9: 20,418,110 (GRCm39)		probably benign	Het
Zmym5	T	A	14: 57,031,918 (GRCm39)	R397*	probably null	Het

Other mutations in Tram1l1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01293:Tram1l1	APN	3	124,115,788 (GRCm39)	missense	probably benign	0.00
IGL02385:Tram1l1	APN	3	124,115,707 (GRCm39)	missense	probably benign	0.25
IGL03212:Tram1l1	APN	3	124,115,563 (GRCm39)	missense	possibly damaging	0.89
R1440:Tram1l1	UTSW	3	124,115,580 (GRCm39)	nonsense	probably null
R1929:Tram1l1	UTSW	3	124,115,635 (GRCm39)	missense	probably damaging	1.00
R2007:Tram1l1	UTSW	3	124,115,488 (GRCm39)	missense	possibly damaging	0.89
R4623:Tram1l1	UTSW	3	124,115,509 (GRCm39)	missense	possibly damaging	0.47
R5031:Tram1l1	UTSW	3	124,115,293 (GRCm39)	nonsense	probably null
R5091:Tram1l1	UTSW	3	124,115,400 (GRCm39)	missense	possibly damaging	0.69
R6142:Tram1l1	UTSW	3	124,115,092 (GRCm39)	missense	probably damaging	1.00
R7469:Tram1l1	UTSW	3	124,114,889 (GRCm39)	missense	probably benign	0.02
R7565:Tram1l1	UTSW	3	124,115,556 (GRCm39)	missense	probably damaging	0.99
R7686:Tram1l1	UTSW	3	124,114,959 (GRCm39)	missense	probably benign	0.07
R7841:Tram1l1	UTSW	3	124,115,354 (GRCm39)	missense	probably damaging	1.00
R7841:Tram1l1	UTSW	3	124,115,353 (GRCm39)	missense	probably damaging	1.00
R8139:Tram1l1	UTSW	3	124,115,436 (GRCm39)	missense	probably benign	0.10
R9194:Tram1l1	UTSW	3	124,115,137 (GRCm39)	missense	possibly damaging	0.60
R9360:Tram1l1	UTSW	3	124,115,899 (GRCm39)	missense	probably damaging	1.00
X0062:Tram1l1	UTSW	3	124,115,743 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CGGAATGGCAATGCACTCTC -3'
(R):5'- CTGACAGGATTTAGAGGCTGAG -3'

Sequencing Primer
(F):5'- TGTGCTGGCAGCTAAAATCGC -3'
(R):5'- GAGTGGTTTAATCTTAATTCCCACC -3'

Posted On

2020-07-13