Mutagenetix > Incidental Mutation

Incidental Mutation 'R4399:Tma16'

325640

Institutional Source

Beutler Lab

Gene Symbol

Tma16

Ensembl Gene

ENSMUSG00000025591

Gene Name

translation machinery associated 16

Synonyms

1810029B16Rik

MMRRC Submission

041686-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.947) question?

Stock #

R4399 (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: 99.2%
3x: 98.6%
10x: 97.1%
20x: 94.8%

Validation Efficiency

96% (44/46)

Allele List at MGI

Other mutations in this stock

Total: 40 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca8b	T	C	11: 109,827,211 (GRCm39)	T1466A	possibly damaging	Het
Abcc6	T	C	7: 45,652,031 (GRCm39)	N612S	probably benign	Het
Aga	T	C	8: 53,964,861 (GRCm39)	S8P	probably benign	Het
Cep152	G	A	2: 125,429,900 (GRCm39)	A674V	possibly damaging	Het
Chd6	T	C	2: 160,807,238 (GRCm39)	H1992R	probably benign	Het
Cnga1	T	C	5: 72,761,724 (GRCm39)	K597E	probably damaging	Het
Col6a5	T	A	9: 105,766,164 (GRCm39)	M1919L	possibly damaging	Het
Cramp1	C	T	17: 25,198,559 (GRCm39)	V788I	probably damaging	Het
Dnah7a	T	C	1: 53,557,886 (GRCm39)	Y2176C	probably damaging	Het
Foxred2	A	C	15: 77,837,558 (GRCm39)	V226G	possibly damaging	Het
Foxred2	T	C	15: 77,839,880 (GRCm39)	I137V	probably benign	Het
G6pd2	T	A	5: 61,967,516 (GRCm39)	N430K	probably benign	Het
Gtf2h3	T	C	5: 124,740,126 (GRCm39)		probably benign	Het
Ibsp	T	A	5: 104,457,148 (GRCm39)	S86T	probably damaging	Het
Igkv6-25	T	A	6: 70,192,694 (GRCm39)	S34T	possibly damaging	Het
Mrc2	T	A	11: 105,227,484 (GRCm39)	Y572*	probably null	Het
Mup18	C	T	4: 61,590,866 (GRCm39)	G97D	probably damaging	Het
Or1j18	A	T	2: 36,625,242 (GRCm39)	N303I	probably benign	Het
Or1p1	A	G	11: 74,179,682 (GRCm39)	D70G	probably damaging	Het
Or2ag2	G	T	7: 106,485,660 (GRCm39)	D121E	probably damaging	Het
Or4k40	T	G	2: 111,251,144 (GRCm39)	I51L	probably benign	Het
Prkcz	A	T	4: 155,353,534 (GRCm39)	I454N	possibly damaging	Het
Prrg3	A	T	X: 71,010,915 (GRCm39)	S141C	probably damaging	Het
Ralgapa1	T	A	12: 55,842,563 (GRCm39)		probably null	Het
Ryr3	A	T	2: 112,777,189 (GRCm39)	S323T	probably benign	Het
Sbpl	A	G	17: 24,173,860 (GRCm39)	L8P	unknown	Het
Setd1b	C	T	5: 123,299,861 (GRCm39)		probably benign	Het
Sh2d3c	G	A	2: 32,636,172 (GRCm39)	G332D	probably damaging	Het
Slc2a7	A	G	4: 150,243,007 (GRCm39)	E276G	probably damaging	Het
Slc35b3	A	G	13: 39,121,791 (GRCm39)	F73L	possibly damaging	Het
Sstr3	T	G	15: 78,424,324 (GRCm39)	D141A	probably damaging	Het
St8sia5	T	C	18: 77,340,714 (GRCm39)	C191R	probably damaging	Het
Sult1c2	T	C	17: 54,269,538 (GRCm39)	N230S	probably benign	Het
Thrap3	A	G	4: 126,060,872 (GRCm39)		probably benign	Het
Tmem151a	A	G	19: 5,133,099 (GRCm39)	S36P	probably damaging	Het
Vmn1r67	A	G	7: 10,181,476 (GRCm39)	T247A	possibly damaging	Het
Vmn2r50	A	G	7: 9,781,834 (GRCm39)	S304P	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
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
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'- CTGATAAGTAGATGCATAAAGGCGC -3'
(R):5'- CTTTAAGCTGGCATGGCTGAG -3'

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

Posted On

2015-07-06