Mutagenetix > Incidental Mutation

Incidental Mutation 'R7076:Tvp23a'

549245

Institutional Source

Beutler Lab

Gene Symbol

Tvp23a

Ensembl Gene

ENSMUSG00000050908

Gene Name

trans-golgi network vesicle protein 23A

Synonyms

Fam18a

MMRRC Submission

045171-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.060) question?

Stock #

R7076 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

10238421-10265226 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 10246599 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 62 (D62G)

Ref Sequence

ENSEMBL: ENSMUSP00000052922 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000023146] [ENSMUST00000051118] [ENSMUST00000128288]

AlphaFold

Q6NVH0

Predicted Effect

probably benign
Transcript: ENSMUST00000023146

SMART Domains

Protein: ENSMUSP00000023146
Gene: ENSMUSG00000022503

Domain	Start	End	E-Value	Type
AAA	54	210	6.23e-4	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000051118
AA Change: D62G

PolyPhen 2 Score 0.221 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000052922
Gene: ENSMUSG00000050908
AA Change: D62G

Domain	Start	End	E-Value	Type
Pfam:DUF846	39	180	1.6e-54	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000128288

Meta Mutation Damage Score

0.1119

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.9%

Validation Efficiency

100% (60/60)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a membrane protein associated with the Golgi apparatus, which plays a crucial role in intracellular vesicular transport. The encoded protein is likely associated with the late (trans) Golgi compartments, which are involved in the delivery of secretory and membrane proteins to the endosome, lysosome or the plasma membrane. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2016]

Allele List at MGI

Other mutations in this stock

Total: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam29	A	G	8: 56,324,694 (GRCm39)	C587R	probably damaging	Het
Adgrg7	T	C	16: 56,562,769 (GRCm39)	T523A	probably damaging	Het
Arrdc3	A	T	13: 81,038,815 (GRCm39)	K259M	probably damaging	Het
Becn1	A	T	11: 101,186,150 (GRCm39)	N151K	probably benign	Het
Cars2	C	T	8: 11,579,649 (GRCm39)	E270K	probably damaging	Het
Ccp110	C	A	7: 118,331,628 (GRCm39)	P943Q	probably damaging	Het
Ccser2	A	G	14: 36,661,786 (GRCm39)	I466T	probably benign	Het
Cd164	A	G	10: 41,399,193 (GRCm39)	E94G	probably benign	Het
Cdon	C	T	9: 35,415,446 (GRCm39)	T1228I	probably benign	Het
Cubn	C	A	2: 13,311,091 (GRCm39)	V3145L	probably benign	Het
Cubn	T	A	2: 13,311,092 (GRCm39)	K3144N	probably benign	Het
Dchs1	A	G	7: 105,411,078 (GRCm39)	V1649A	probably benign	Het
Dgka	A	T	10: 128,569,452 (GRCm39)	D153E	probably damaging	Het
Dip2b	A	G	15: 100,055,853 (GRCm39)		probably null	Het
Dnajc21	T	C	15: 10,449,717 (GRCm39)	T435A	probably benign	Het
F830016B08Rik	A	T	18: 60,433,543 (GRCm39)	I209F	probably damaging	Het
Ghdc	C	A	11: 100,660,540 (GRCm39)	S111I	possibly damaging	Het
Gm19965	T	C	1: 116,749,005 (GRCm39)	C229R		Het
Gpm6a	C	T	8: 55,490,486 (GRCm39)	T54I	probably damaging	Het
Gpr171	G	T	3: 59,005,577 (GRCm39)	A66E	probably damaging	Het
Grm7	A	G	6: 111,335,113 (GRCm39)	D508G	probably benign	Het
Has1	G	A	17: 18,064,068 (GRCm39)	R524C	probably damaging	Het
Idh2	TCCCAGG	T	7: 79,748,079 (GRCm39)		probably benign	Het
Ighv3-8	A	T	12: 114,286,402 (GRCm39)	L7Q	probably damaging	Het
Ints10	A	T	8: 69,249,403 (GRCm39)	R78*	probably null	Het
Itpr1	A	G	6: 108,365,257 (GRCm39)	I903V	probably benign	Het
Lrp1	A	G	10: 127,386,052 (GRCm39)		probably null	Het
Mki67	A	G	7: 135,307,358 (GRCm39)	V132A	probably damaging	Het
Myh4	A	G	11: 67,143,999 (GRCm39)	E1123G	possibly damaging	Het
Neurog3	A	G	10: 61,969,359 (GRCm39)	T40A	probably benign	Het
Nipsnap3b	T	A	4: 53,021,095 (GRCm39)		probably null	Het
Nr4a3	G	A	4: 48,055,957 (GRCm39)	V328I	probably damaging	Het
Or11g27	T	A	14: 50,771,278 (GRCm39)	Y136*	probably null	Het
Or2d36	T	C	7: 106,747,236 (GRCm39)	F238L	probably damaging	Het
Or52u1	A	T	7: 104,237,430 (GRCm39)	S140C	probably damaging	Het
Or5af2	G	A	11: 58,707,990 (GRCm39)	R52Q	probably benign	Het
Or5b124	G	T	19: 13,611,244 (GRCm39)	M256I	possibly damaging	Het
Or5p63	A	T	7: 107,811,205 (GRCm39)	V177D	probably damaging	Het
Osbpl5	A	G	7: 143,263,577 (GRCm39)	L102P	probably benign	Het
Ppl	C	T	16: 4,917,983 (GRCm39)	R503Q	probably damaging	Het
Ppp2r2d	T	C	7: 138,478,326 (GRCm39)	M321T	possibly damaging	Het
Prex1	T	C	2: 166,475,302 (GRCm39)	Y197C	probably damaging	Het
Prss32	A	G	17: 24,072,895 (GRCm39)	D42G	possibly damaging	Het
Ralgapa1	T	C	12: 55,768,361 (GRCm39)	E1210G	possibly damaging	Het
Sdr16c5	A	G	4: 4,006,591 (GRCm39)	C234R	probably damaging	Het
Slc23a4	A	G	6: 34,933,819 (GRCm39)	S95P	probably damaging	Het
Srp14	T	C	2: 118,309,871 (GRCm39)	T29A	probably damaging	Het
Tet2	T	A	3: 133,172,784 (GRCm39)	H1826L	possibly damaging	Het
Tfr2	A	T	5: 137,581,836 (GRCm39)	Y641F	probably damaging	Het
Tmco5b	A	G	2: 113,117,766 (GRCm39)	N27D	probably damaging	Het
Usp12	A	G	5: 146,674,562 (GRCm39)	F347S	possibly damaging	Het
Zfp407	A	T	18: 84,576,601 (GRCm39)	L1504Q	probably damaging	Het
Zfp524	A	G	7: 5,020,895 (GRCm39)	D141G	possibly damaging	Het
Zfp68	A	G	5: 138,605,201 (GRCm39)	I374T	possibly damaging	Het
Zfp758	C	T	17: 22,594,137 (GRCm39)	H208Y	probably benign	Het
Zfp804b	T	C	5: 6,819,751 (GRCm39)	H1104R	probably benign	Het
Znrf2	T	A	6: 54,819,680 (GRCm39)	*75K	probably null	Het
Zzef1	T	C	11: 72,790,385 (GRCm39)	V2113A	probably benign	Het

Other mutations in Tvp23a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R1556:Tvp23a	UTSW	16	10,264,862 (GRCm39)	missense	probably damaging	1.00
R1691:Tvp23a	UTSW	16	10,246,551 (GRCm39)	missense	possibly damaging	0.59
R4384:Tvp23a	UTSW	16	10,246,546 (GRCm39)	missense	probably benign	0.06
R4633:Tvp23a	UTSW	16	10,244,909 (GRCm39)	missense	probably benign	0.04
R4721:Tvp23a	UTSW	16	10,245,275 (GRCm39)	missense	probably benign	0.16
R6843:Tvp23a	UTSW	16	10,264,884 (GRCm39)	missense	probably benign
R7619:Tvp23a	UTSW	16	10,246,602 (GRCm39)	missense	probably damaging	1.00
R7774:Tvp23a	UTSW	16	10,245,245 (GRCm39)	critical splice donor site	probably null
R9018:Tvp23a	UTSW	16	10,264,846 (GRCm39)	missense	probably damaging	1.00
R9343:Tvp23a	UTSW	16	10,245,287 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CCAGTGTTCTTTAACAGGTAGCAAC -3'
(R):5'- GTTCCAGGTTCTCCCTAGGTAC -3'

Sequencing Primer
(F):5'- TTAACAGGTAGCAACAATGTAAACC -3'
(R):5'- AGGTTCTCCCTAGGTACCCCTG -3'

Posted On

2019-05-15