Mutagenetix > Incidental Mutation

Incidental Mutation 'R4493:Tma16'

330835

Institutional Source

Beutler Lab

Gene Symbol

Tma16

Ensembl Gene

ENSMUSG00000025591

Gene Name

translation machinery associated 16

Synonyms

1810029B16Rik

MMRRC Submission

041748-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.947) question?

Stock #

R4493 (G1)

Quality Score

225

Status

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: 99.3%
3x: 98.7%
10x: 97.4%
20x: 95.7%

Validation Efficiency

94% (45/48)

Allele List at MGI

Other mutations in this stock

Total: 40 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Cacna1b	T	C	2: 24,542,950 (GRCm39)	T1301A	probably damaging	Het
Ccdc141	A	G	2: 76,962,641 (GRCm39)	V101A	probably damaging	Het
Ccdc146	T	C	5: 21,508,191 (GRCm39)	E619G	possibly damaging	Het
Cfap91	T	C	16: 38,162,130 (GRCm39)	T4A	probably benign	Het
Cmya5	T	C	13: 93,230,573 (GRCm39)	E1505G	probably benign	Het
Cngb3	C	A	4: 19,367,778 (GRCm39)	P229Q	probably damaging	Het
Ctnna2	A	G	6: 76,958,831 (GRCm39)	V461A	probably damaging	Het
D430041D05Rik	T	C	2: 104,086,684 (GRCm39)	D764G	probably benign	Het
Dgki	T	C	6: 36,951,796 (GRCm39)		probably benign	Het
Dhx36	A	T	3: 62,395,925 (GRCm39)		probably benign	Het
Gcn1	T	C	5: 115,732,203 (GRCm39)	I1006T	probably benign	Het
Glt8d2	T	A	10: 82,500,547 (GRCm39)	M20L	possibly damaging	Het
Greb1	C	A	12: 16,748,611 (GRCm39)	G1122V	probably benign	Het
Hmcn1	A	T	1: 150,577,650 (GRCm39)	I2037N	probably damaging	Het
Hspa4l	A	G	3: 40,722,434 (GRCm39)	I340V	possibly damaging	Het
Itpr3	A	G	17: 27,323,586 (GRCm39)	K1204E	probably damaging	Het
Kcnh8	GAGACCAACGAGCAGCTGATGCTTCAGA	GAGA	17: 53,032,934 (GRCm39)	74	probably benign	Het
Lyst	G	A	13: 13,809,968 (GRCm39)	R546H	probably damaging	Het
Mcph1	T	A	8: 18,681,752 (GRCm39)	C296*	probably null	Het
Mrc2	G	A	11: 105,239,257 (GRCm39)		probably null	Het
Naga	A	G	15: 82,216,715 (GRCm39)	F259S	probably damaging	Het
Nes	A	G	3: 87,884,120 (GRCm39)	E793G	probably damaging	Het
Nfkb2	A	G	19: 46,296,878 (GRCm39)	D316G	probably damaging	Het
Pcdha4	A	T	18: 37,087,644 (GRCm39)	Y609F	possibly damaging	Het
Pgam1	C	T	19: 41,904,215 (GRCm39)	A104V	possibly damaging	Het
Piezo2	T	C	18: 63,247,134 (GRCm39)	I525V	probably damaging	Het
Pold1	A	G	7: 44,187,132 (GRCm39)	V683A	probably damaging	Het
Poteg	T	C	8: 27,970,125 (GRCm39)	V316A	possibly damaging	Het
Ppih	A	T	4: 119,168,042 (GRCm39)	N156K	probably damaging	Het
Prep	T	C	10: 44,996,915 (GRCm39)	F398L	probably benign	Het
Prlhr	A	T	19: 60,455,519 (GRCm39)	M349K	probably benign	Het
Rtp4	A	T	16: 23,428,827 (GRCm39)	H30L	probably benign	Het
Stkld1	A	G	2: 26,836,638 (GRCm39)	N268S	probably benign	Het
Syt6	A	G	3: 103,492,946 (GRCm39)	E66G	probably damaging	Het
Tas2r129	A	G	6: 132,928,317 (GRCm39)	I85V	probably benign	Het
Tprn	T	C	2: 25,158,904 (GRCm39)	S643P	probably damaging	Het
Trrap	T	C	5: 144,767,858 (GRCm39)	V2605A	probably benign	Het
Vmn1r230	T	A	17: 21,066,863 (GRCm39)	N17K	probably benign	Het
Xkrx	T	C	X: 133,051,745 (GRCm39)	N302S	possibly damaging	Het
Zfp946	T	A	17: 22,670,067 (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
R4421: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
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'- GATGCATAAAGGCGCTTTCC -3'
(R):5'- GTCAGAACTACTTTAAGCTGGC -3'

Sequencing Primer
(F):5'- ATAAAGGCGCTTTCCCCAGTG -3'
(R):5'- CAGAACTACTTTAAGCTGGCATGGC -3'

Posted On

2015-07-21