Mutagenetix > Incidental Mutations

Incidental Mutation 'R4421:Tma16'

327104

Institutional Source

Beutler Lab

Gene Symbol

Tma16

Ensembl Gene

ENSMUSG00000025591

Gene Name

translation machinery associated 16

Synonyms

MMRRC Submission

041142-MU

Accession Numbers

Is this an essential gene?

Probably essential (E-score: 0.942) question?

Stock #

R4421 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

66473118-66486530 bp(-) (GRCm38)

Type of Mutation

critical splice acceptor site

DNA Base Change (assembly)

C to T at 66484171 bp

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000026681 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000026681] [ENSMUST00000143972]

Predicted Effect

probably null
Transcript: ENSMUST00000026681

SMART Domains

Protein: ENSMUSP00000026681
Gene: ENSMUSG00000025591

Domain	Start	End	E-Value	Type
Pfam:DUF2962	10	162	1.6e-48	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000143972

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000145787

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000213036

Meta Mutation Damage Score

0.9588

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.4%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 37 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acy1	G	C	9: 106,435,713		probably null	Het
Adgrv1	T	C	13: 81,566,302	E234G	probably damaging	Het
Aga	T	C	8: 53,511,826	S8P	probably benign	Het
C1s2	T	C	6: 124,625,215	D673G	probably benign	Het
Capza3	G	A	6: 140,042,042	M122I	probably benign	Het
Cfap44	T	C	16: 44,422,437	S735P	probably damaging	Het
Cntn3	A	G	6: 102,464,547	F13L	probably damaging	Het
Col6a5	A	T	9: 105,928,473	M1078K	unknown	Het
Colgalt2	A	T	1: 152,485,012	I267F	probably damaging	Het
Cpped1	T	C	16: 11,805,357	*299W	probably null	Het
Cyp3a59	A	G	5: 146,104,903		probably null	Het
Ddx42	T	A	11: 106,231,138	Y160N	probably damaging	Het
Dhx35	A	T	2: 158,806,401	R60W	probably damaging	Het
Gbp10	T	C	5: 105,224,651		probably null	Het
Gtf2i	T	C	5: 134,255,037	T467A	possibly damaging	Het
Hip1r	G	C	5: 123,997,862	G542A	possibly damaging	Het
Hspg2	G	A	4: 137,548,122	A2748T	probably benign	Het
Kcnq3	T	C	15: 65,995,511	Y761C	probably benign	Het
Krt13	T	G	11: 100,118,935	T340P	possibly damaging	Het
Map2k5	A	G	9: 63,164,130	C435R	probably damaging	Het
Ms4a4c	T	A	19: 11,416,375	I53K	probably damaging	Het
Myh15	T	A	16: 49,109,344	F544L	probably damaging	Het
Neurod2	G	T	11: 98,328,200	S46*	probably null	Het
Nsd3	T	A	8: 25,641,272	S218T	probably damaging	Het
Olfr1184	A	T	2: 88,487,241	N170Y	probably damaging	Het
Olfr706	G	T	7: 106,886,453	D121E	probably damaging	Het
Prrc2c	TTGCTGCTGCTGCTGCTGCTGCTGCTGC	TTGCTGCTGCTGCTGCTGCTGCTGC	1: 162,709,061		probably benign	Het
Prrg3	A	T	X: 71,967,309	S141C	probably damaging	Het
Ranbp17	A	T	11: 33,475,056	D433E	probably benign	Het
Rbm28	T	C	6: 29,154,837	D278G	probably damaging	Het
Sbpl	A	G	17: 23,954,886	L8P	unknown	Het
Spopl	C	T	2: 23,517,945	V241M	probably damaging	Het
Tdrd3	A	G	14: 87,486,283	E311G	probably damaging	Het
Ubr4	A	G	4: 139,461,856	N3917D	possibly damaging	Het
Vmn2r68	TCC	TC	7: 85,221,550		probably null	Het
Vmn2r72	T	C	7: 85,738,500	N619D	probably damaging	Het
Xab2	C	A	8: 3,614,244		probably null	Het

Other mutations in Tma16

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00233:Tma16	APN	8	66480445	missense	probably benign	0.00
IGL01321:Tma16	APN	8	66476860	missense	probably benign	0.02
IGL02022:Tma16	APN	8	66486410	critical splice donor site	probably null
R0064:Tma16	UTSW	8	66476805	missense	possibly damaging	0.46
R3401:Tma16	UTSW	8	66484171	critical splice acceptor site	probably null
R3402:Tma16	UTSW	8	66484171	critical splice acceptor site	probably null
R3403:Tma16	UTSW	8	66484171	critical splice acceptor site	probably null
R4399:Tma16	UTSW	8	66484171	critical splice acceptor site	probably null
R4402:Tma16	UTSW	8	66484171	critical splice acceptor site	probably null
R4453:Tma16	UTSW	8	66484171	critical splice acceptor site	probably null
R4493:Tma16	UTSW	8	66484171	critical splice acceptor site	probably null
R4856:Tma16	UTSW	8	66481477	missense	probably damaging	1.00
R4886:Tma16	UTSW	8	66481477	missense	probably damaging	1.00
R5527:Tma16	UTSW	8	66484124	missense	possibly damaging	0.94
R6312:Tma16	UTSW	8	66481466	missense	probably damaging	0.99
R8437:Tma16	UTSW	8	66476796	missense	possibly damaging	0.81

Predicted Primers

PCR Primer
(F):5'- CACCTGATAAGTAGATGCATAAAGGC -3'
(R):5'- TAAGCTGGCATGGCTGAGTC -3'

Sequencing Primer
(F):5'- GATGCATAAAGGCGCTTTCC -3'
(R):5'- ATGGCTGAGTCACTGAGCG -3'

Posted On

2015-07-07