Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02004:Tvp23b'

182204

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Tvp23b

Ensembl Gene

ENSMUSG00000014177

Gene Name

trans-golgi network vesicle protein 23B

Synonyms

Fam18b, 1810036I24Rik

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL02004

Quality Score

Status

Chromosome

Chromosomal Location

62770281-62786012 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 62782826 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Tyrosine at position 174 (C174Y)

Ref Sequence

ENSEMBL: ENSMUSP00000014321 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000014321]

AlphaFold

Q9D8T4

Predicted Effect

probably damaging
Transcript: ENSMUST00000014321
AA Change: C174Y

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000014321
Gene: ENSMUSG00000014177
AA Change: C174Y

Domain	Start	End	E-Value	Type
Pfam:DUF846	32	174	9.5e-58	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000128698

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000140377

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 32 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933427D14Rik	G	T	11: 72,082,423 (GRCm39)	A301E	possibly damaging	Het
C4b	A	T	17: 34,957,984 (GRCm39)		probably benign	Het
Cep85	A	G	4: 133,894,698 (GRCm39)	V36A	probably damaging	Het
Cnot10	A	T	9: 114,451,998 (GRCm39)	F259L	probably damaging	Het
Crim1	T	C	17: 78,680,004 (GRCm39)		probably benign	Het
Crispld1	G	A	1: 17,817,744 (GRCm39)	A216T	probably damaging	Het
Cyp8b1	T	C	9: 121,744,058 (GRCm39)	I425V	probably benign	Het
Fat2	A	T	11: 55,173,666 (GRCm39)	V2349D	probably damaging	Het
Fer	G	T	17: 64,231,174 (GRCm39)		probably null	Het
Galnt3	T	C	2: 65,926,270 (GRCm39)	T313A	probably damaging	Het
Hsd3b9	T	A	3: 98,363,735 (GRCm39)	R37W	probably damaging	Het
Igkv10-94	A	T	6: 68,681,928 (GRCm39)	L12*	probably null	Het
Kcnj3	G	A	2: 55,327,243 (GRCm39)	D11N	probably benign	Het
Kit	T	A	5: 75,781,674 (GRCm39)	S368T	probably benign	Het
Mark1	G	A	1: 184,644,786 (GRCm39)	S390L	possibly damaging	Het
Mpped1	C	A	15: 83,684,357 (GRCm39)	S126R	probably damaging	Het
Myh15	A	C	16: 48,930,892 (GRCm39)		probably benign	Het
Nat1	G	A	8: 67,943,878 (GRCm39)	E85K	probably benign	Het
Or9q1	T	C	19: 13,805,427 (GRCm39)	D111G	possibly damaging	Het
Pde3b	A	T	7: 114,118,852 (GRCm39)	M664L	possibly damaging	Het
Phrf1	A	G	7: 140,840,246 (GRCm39)	D1147G	probably benign	Het
Pth1r	G	T	9: 110,571,376 (GRCm39)		probably benign	Het
Shank3	C	T	15: 89,387,502 (GRCm39)		probably benign	Het
Slc39a7	A	C	17: 34,250,095 (GRCm39)		probably benign	Het
Slc6a1	A	G	6: 114,291,286 (GRCm39)	T520A	probably benign	Het
St3gal2	C	A	8: 111,696,804 (GRCm39)	A317E	probably damaging	Het
St3gal3	C	A	4: 117,817,236 (GRCm39)	L139F	possibly damaging	Het
Sval3	T	A	6: 41,949,776 (GRCm39)		probably benign	Het
Syvn1	G	A	19: 6,102,437 (GRCm39)	A502T	probably benign	Het
Tm4sf1	T	C	3: 57,200,499 (GRCm39)	I68V	possibly damaging	Het
Tnrc6a	T	A	7: 122,780,589 (GRCm39)	N1326K	possibly damaging	Het
Zfp750	T	C	11: 121,402,975 (GRCm39)	D591G	probably benign	Het

Other mutations in Tvp23b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00863:Tvp23b	APN	11	62,774,464 (GRCm39)	missense	probably damaging	0.97
IGL00901:Tvp23b	APN	11	62,774,606 (GRCm39)	splice site	probably benign
Chipotle	UTSW	11	62,770,424 (GRCm39)	splice site	probably null
R0117:Tvp23b	UTSW	11	62,770,430 (GRCm39)	unclassified	probably benign
R3838:Tvp23b	UTSW	11	62,774,455 (GRCm39)	missense	possibly damaging	0.84
R4596:Tvp23b	UTSW	11	62,774,544 (GRCm39)	missense	probably benign
R4840:Tvp23b	UTSW	11	62,770,424 (GRCm39)	splice site	probably null
R6952:Tvp23b	UTSW	11	62,775,952 (GRCm39)	missense	possibly damaging	0.50
R7499:Tvp23b	UTSW	11	62,770,289 (GRCm39)	unclassified	probably benign
R7516:Tvp23b	UTSW	11	62,782,867 (GRCm39)	missense	possibly damaging	0.77
R8511:Tvp23b	UTSW	11	62,774,563 (GRCm39)	missense	possibly damaging	0.90
R9206:Tvp23b	UTSW	11	62,772,842 (GRCm39)	missense	possibly damaging	0.49
Z1186:Tvp23b	UTSW	11	62,772,769 (GRCm39)	missense	possibly damaging	0.77
Z1187:Tvp23b	UTSW	11	62,772,769 (GRCm39)	missense	possibly damaging	0.77
Z1188:Tvp23b	UTSW	11	62,772,769 (GRCm39)	missense	possibly damaging	0.77
Z1189:Tvp23b	UTSW	11	62,772,769 (GRCm39)	missense	possibly damaging	0.77
Z1190:Tvp23b	UTSW	11	62,772,769 (GRCm39)	missense	possibly damaging	0.77
Z1191:Tvp23b	UTSW	11	62,772,769 (GRCm39)	missense	possibly damaging	0.77
Z1192:Tvp23b	UTSW	11	62,772,769 (GRCm39)	missense	possibly damaging	0.77

Posted On

2014-05-07