Mutagenetix > Incidental Mutation

Incidental Mutation 'R4421:Tma16'

327104

Institutional Source

Beutler Lab

Gene Symbol

Tma16

Ensembl Gene

ENSMUSG00000025591

Gene Name

translation machinery associated 16

Synonyms

1810029B16Rik

MMRRC Submission

041142-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.954) question?

Stock #

R4421 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

66928995-66939182 bp(-) (GRCm39)

Type of Mutation

critical splice acceptor site

DNA Base Change (assembly)

C to T at 66936823 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000026681 (fasta)

Gene Model

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

AlphaFold

Q9CR02

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: 106,312,912 (GRCm39)		probably null	Het
Adgrv1	T	C	13: 81,714,421 (GRCm39)	E234G	probably damaging	Het
Aga	T	C	8: 53,964,861 (GRCm39)	S8P	probably benign	Het
C1s2	T	C	6: 124,602,174 (GRCm39)	D673G	probably benign	Het
Capza3	G	A	6: 139,987,768 (GRCm39)	M122I	probably benign	Het
Cfap44	T	C	16: 44,242,800 (GRCm39)	S735P	probably damaging	Het
Cntn3	A	G	6: 102,441,508 (GRCm39)	F13L	probably damaging	Het
Col6a5	A	T	9: 105,805,672 (GRCm39)	M1078K	unknown	Het
Colgalt2	A	T	1: 152,360,763 (GRCm39)	I267F	probably damaging	Het
Cpped1	T	C	16: 11,623,221 (GRCm39)	*299W	probably null	Het
Cyp3a59	A	G	5: 146,041,713 (GRCm39)		probably null	Het
Ddx42	T	A	11: 106,121,964 (GRCm39)	Y160N	probably damaging	Het
Dhx35	A	T	2: 158,648,321 (GRCm39)	R60W	probably damaging	Het
Gbp10	T	C	5: 105,372,517 (GRCm39)		probably null	Het
Gtf2i	T	C	5: 134,283,891 (GRCm39)	T467A	possibly damaging	Het
Hip1r	G	C	5: 124,135,925 (GRCm39)	G542A	possibly damaging	Het
Hspg2	G	A	4: 137,275,433 (GRCm39)	A2748T	probably benign	Het
Kcnq3	T	C	15: 65,867,360 (GRCm39)	Y761C	probably benign	Het
Krt13	T	G	11: 100,009,761 (GRCm39)	T340P	possibly damaging	Het
Map2k5	A	G	9: 63,071,412 (GRCm39)	C435R	probably damaging	Het
Ms4a4c	T	A	19: 11,393,739 (GRCm39)	I53K	probably damaging	Het
Myh15	T	A	16: 48,929,707 (GRCm39)	F544L	probably damaging	Het
Neurod2	G	T	11: 98,219,026 (GRCm39)	S46*	probably null	Het
Nsd3	T	A	8: 26,131,288 (GRCm39)	S218T	probably damaging	Het
Or2ag2	G	T	7: 106,485,660 (GRCm39)	D121E	probably damaging	Het
Or4p22	A	T	2: 88,317,585 (GRCm39)	N170Y	probably damaging	Het
Prrc2c	TTGCTGCTGCTGCTGCTGCTGCTGCTGC	TTGCTGCTGCTGCTGCTGCTGCTGC	1: 162,536,630 (GRCm39)		probably benign	Het
Prrg3	A	T	X: 71,010,915 (GRCm39)	S141C	probably damaging	Het
Ranbp17	A	T	11: 33,425,056 (GRCm39)	D433E	probably benign	Het
Rbm28	T	C	6: 29,154,836 (GRCm39)	D278G	probably damaging	Het
Sbpl	A	G	17: 24,173,860 (GRCm39)	L8P	unknown	Het
Spopl	C	T	2: 23,407,957 (GRCm39)	V241M	probably damaging	Het
Tdrd3	A	G	14: 87,723,719 (GRCm39)	E311G	probably damaging	Het
Ubr4	A	G	4: 139,189,167 (GRCm39)	N3917D	possibly damaging	Het
Vmn2r68	TCC	TC	7: 84,870,758 (GRCm39)		probably null	Het
Vmn2r72	T	C	7: 85,387,708 (GRCm39)	N619D	probably damaging	Het
Xab2	C	A	8: 3,664,244 (GRCm39)		probably null	Het

Other mutations in Tma16

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00233:Tma16	APN	8	66,933,097 (GRCm39)	missense	probably benign	0.00
IGL01321:Tma16	APN	8	66,929,512 (GRCm39)	missense	probably benign	0.02
IGL02022:Tma16	APN	8	66,939,062 (GRCm39)	critical splice donor site	probably null
R0064:Tma16	UTSW	8	66,929,457 (GRCm39)	missense	possibly damaging	0.46
R3401:Tma16	UTSW	8	66,936,823 (GRCm39)	critical splice acceptor site	probably null
R3402:Tma16	UTSW	8	66,936,823 (GRCm39)	critical splice acceptor site	probably null
R3403:Tma16	UTSW	8	66,936,823 (GRCm39)	critical splice acceptor site	probably null
R4399:Tma16	UTSW	8	66,936,823 (GRCm39)	critical splice acceptor site	probably null
R4402:Tma16	UTSW	8	66,936,823 (GRCm39)	critical splice acceptor site	probably null
R4453:Tma16	UTSW	8	66,936,823 (GRCm39)	critical splice acceptor site	probably null
R4493:Tma16	UTSW	8	66,936,823 (GRCm39)	critical splice acceptor site	probably null
R4856:Tma16	UTSW	8	66,934,129 (GRCm39)	missense	probably damaging	1.00
R4886:Tma16	UTSW	8	66,934,129 (GRCm39)	missense	probably damaging	1.00
R5527:Tma16	UTSW	8	66,936,776 (GRCm39)	missense	possibly damaging	0.94
R6312:Tma16	UTSW	8	66,934,118 (GRCm39)	missense	probably damaging	0.99
R8437:Tma16	UTSW	8	66,929,448 (GRCm39)	missense	possibly damaging	0.81
R9229:Tma16	UTSW	8	66,936,779 (GRCm39)	missense	probably benign	0.01

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