Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00926:Tpd52'

27099

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Tpd52

Ensembl Gene

ENSMUSG00000027506

Gene Name

tumor protein D52

Synonyms

mD52

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.089) question?

Stock #

IGL00926

Quality Score

Status

Chromosome

Chromosomal Location

8991590-9069824 bp(-) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

A to T at 9012692 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000123147 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000063496] [ENSMUST00000063496] [ENSMUST00000091354] [ENSMUST00000091354] [ENSMUST00000091355] [ENSMUST00000091355] [ENSMUST00000094381] [ENSMUST00000094381] [ENSMUST00000120143] [ENSMUST00000120143] [ENSMUST00000121038] [ENSMUST00000121038] [ENSMUST00000124956] [ENSMUST00000124956] [ENSMUST00000145905] [ENSMUST00000145905] [ENSMUST00000134788] [ENSMUST00000134788] [ENSMUST00000155450]

AlphaFold

Q62393

Predicted Effect

probably null
Transcript: ENSMUST00000063496

SMART Domains

Protein: ENSMUSP00000066826
Gene: ENSMUSG00000027506

Domain	Start	End	E-Value	Type
Pfam:TPD52	7	180	2.8e-69	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000063496

SMART Domains

Protein: ENSMUSP00000066826
Gene: ENSMUSG00000027506

Domain	Start	End	E-Value	Type
Pfam:TPD52	7	180	2.8e-69	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000091354

SMART Domains

Protein: ENSMUSP00000088913
Gene: ENSMUSG00000027506

Domain	Start	End	E-Value	Type
low complexity region	30	42	N/A	INTRINSIC
Pfam:TPD52	46	210	4.7e-71	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000091354

SMART Domains

Protein: ENSMUSP00000088913
Gene: ENSMUSG00000027506

Domain	Start	End	E-Value	Type
low complexity region	30	42	N/A	INTRINSIC
Pfam:TPD52	46	210	4.7e-71	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000091355

SMART Domains

Protein: ENSMUSP00000088914
Gene: ENSMUSG00000027506

Domain	Start	End	E-Value	Type
Pfam:TPD52	7	185	7.5e-70	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000091355

SMART Domains

Protein: ENSMUSP00000088914
Gene: ENSMUSG00000027506

Domain	Start	End	E-Value	Type
Pfam:TPD52	7	185	7.5e-70	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000094381

SMART Domains

Protein: ENSMUSP00000091943
Gene: ENSMUSG00000027506

Domain	Start	End	E-Value	Type
low complexity region	30	42	N/A	INTRINSIC
Pfam:TPD52	48	232	1.3e-74	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000094381

SMART Domains

Protein: ENSMUSP00000091943
Gene: ENSMUSG00000027506

Domain	Start	End	E-Value	Type
low complexity region	30	42	N/A	INTRINSIC
Pfam:TPD52	48	232	1.3e-74	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000120143

SMART Domains

Protein: ENSMUSP00000112830
Gene: ENSMUSG00000027506

Domain	Start	End	E-Value	Type
Pfam:TPD52	7	171	2.4e-71	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000120143

SMART Domains

Protein: ENSMUSP00000112830
Gene: ENSMUSG00000027506

Domain	Start	End	E-Value	Type
Pfam:TPD52	7	171	2.4e-71	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000121038

SMART Domains

Protein: ENSMUSP00000113368
Gene: ENSMUSG00000027506

Domain	Start	End	E-Value	Type
Pfam:TPD52	1	148	2.3e-67	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000121038

SMART Domains

Protein: ENSMUSP00000113368
Gene: ENSMUSG00000027506

Domain	Start	End	E-Value	Type
Pfam:TPD52	1	148	2.3e-67	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000124956

SMART Domains

Protein: ENSMUSP00000119077
Gene: ENSMUSG00000027506

Domain	Start	End	E-Value	Type
Pfam:TPD52	1	77	8.8e-38	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000124956

SMART Domains

Protein: ENSMUSP00000119077
Gene: ENSMUSG00000027506

Domain	Start	End	E-Value	Type
Pfam:TPD52	1	77	8.8e-38	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000145905

SMART Domains

Protein: ENSMUSP00000123147
Gene: ENSMUSG00000027506

Domain	Start	End	E-Value	Type
Pfam:TPD52	4	168	8.3e-72	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000145905

SMART Domains

Protein: ENSMUSP00000123147
Gene: ENSMUSG00000027506

Domain	Start	End	E-Value	Type
Pfam:TPD52	4	168	8.3e-72	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000129736

Predicted Effect

probably null
Transcript: ENSMUST00000134788

SMART Domains

Protein: ENSMUSP00000119899
Gene: ENSMUSG00000027506

Domain	Start	End	E-Value	Type
transmembrane domain	10	29	N/A	INTRINSIC
Pfam:TPD52	56	206	1e-67	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000134788

SMART Domains

Protein: ENSMUSP00000119899
Gene: ENSMUSG00000027506

Domain	Start	End	E-Value	Type
transmembrane domain	10	29	N/A	INTRINSIC
Pfam:TPD52	56	206	1e-67	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000155450

SMART Domains

Protein: ENSMUSP00000120317
Gene: ENSMUSG00000027506

Domain	Start	End	E-Value	Type
transmembrane domain	10	29	N/A	INTRINSIC
transmembrane domain	36	55	N/A	INTRINSIC

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 29 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Agtr2	A	T	X: 21,352,524 (GRCm39)	M53L	probably benign	Het
Apob	T	C	12: 8,065,421 (GRCm39)	V4097A	probably benign	Het
Brip1	T	C	11: 86,039,227 (GRCm39)	K436E	possibly damaging	Het
Cadps	C	A	14: 12,491,795 (GRCm38)	R785L	probably damaging	Het
Cavin2	A	G	1: 51,340,036 (GRCm39)	K238E	probably damaging	Het
Ccdc158	G	A	5: 92,798,626 (GRCm39)	T358I	probably damaging	Het
Cds1	A	G	5: 101,957,767 (GRCm39)	I246M	probably damaging	Het
Cep19	A	G	16: 31,925,898 (GRCm39)	E102G	probably damaging	Het
Clec4a1	T	A	6: 122,899,014 (GRCm39)	C28S	possibly damaging	Het
Csmd3	T	A	15: 47,574,360 (GRCm39)	Y2082F	possibly damaging	Het
Fbn1	T	A	2: 125,160,962 (GRCm39)	T2193S	possibly damaging	Het
Gm24124	G	T	19: 13,611,421 (GRCm39)		probably benign	Het
Gpbp1l1	T	A	4: 116,444,710 (GRCm39)		probably null	Het
Helq	T	C	5: 100,912,948 (GRCm39)		probably benign	Het
Hnrnpm	C	A	17: 33,868,876 (GRCm39)	R517L	probably damaging	Het
Itga3	G	A	11: 94,956,712 (GRCm39)	H122Y	probably damaging	Het
Mettl18	T	A	1: 163,823,795 (GRCm39)	S39T	possibly damaging	Het
Ndst4	A	T	3: 125,355,102 (GRCm39)	T337S	probably benign	Het
Neb	A	G	2: 52,160,329 (GRCm39)		probably benign	Het
Nrbp1	T	C	5: 31,401,141 (GRCm39)	S6P	probably benign	Het
Oprk1	A	G	1: 5,669,128 (GRCm39)	I191M	probably damaging	Het
Or2a56	A	T	6: 42,933,370 (GRCm39)		probably benign	Het
Or51k2	A	G	7: 103,596,204 (GRCm39)	T144A	probably benign	Het
Or52z13	A	G	7: 103,247,369 (GRCm39)	N282S	possibly damaging	Het
Psap	T	C	10: 60,128,316 (GRCm39)	V69A	probably damaging	Het
Scn7a	C	T	2: 66,514,475 (GRCm39)	E1100K	probably benign	Het
Tmem145	A	G	7: 25,014,155 (GRCm39)	N423S	possibly damaging	Het
Trmt13	G	A	3: 116,383,884 (GRCm39)	Q58*	probably null	Het
Ttn	T	C	2: 76,589,125 (GRCm39)	E21346G	probably damaging	Het

Other mutations in Tpd52

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02662:Tpd52	APN	3	9,009,775 (GRCm39)	splice site	probably null
IGL02994:Tpd52	APN	3	9,012,590 (GRCm39)	missense	probably benign	0.00
R0319:Tpd52	UTSW	3	9,018,749 (GRCm39)	missense	probably benign	0.00
R0960:Tpd52	UTSW	3	9,008,650 (GRCm39)	splice site	probably null
R1366:Tpd52	UTSW	3	9,028,993 (GRCm39)	missense	probably damaging	0.99
R1828:Tpd52	UTSW	3	9,012,579 (GRCm39)	missense	probably damaging	1.00
R1869:Tpd52	UTSW	3	9,018,862 (GRCm39)	splice site	probably null
R2872:Tpd52	UTSW	3	9,068,466 (GRCm39)	nonsense	probably null
R2872:Tpd52	UTSW	3	9,068,466 (GRCm39)	nonsense	probably null
R4761:Tpd52	UTSW	3	9,028,933 (GRCm39)	missense	probably damaging	1.00
R4907:Tpd52	UTSW	3	9,009,668 (GRCm39)	splice site	probably null
R4997:Tpd52	UTSW	3	9,000,056 (GRCm39)	missense	probably damaging	1.00
R5384:Tpd52	UTSW	3	8,996,255 (GRCm39)	splice site	probably null
R5385:Tpd52	UTSW	3	8,996,255 (GRCm39)	splice site	probably null
R5441:Tpd52	UTSW	3	9,068,466 (GRCm39)	nonsense	probably null
R7154:Tpd52	UTSW	3	9,028,916 (GRCm39)	nonsense	probably null
Z1177:Tpd52	UTSW	3	8,996,204 (GRCm39)	missense	probably damaging	1.00

Posted On

2013-04-17