Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02994:Tpd52'

407058

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 #

IGL02994

Quality Score

Status

Chromosome

Chromosomal Location

8991590-9069824 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 9012590 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Leucine at position 76 (F76L)

Ref Sequence

ENSEMBL: ENSMUSP00000123147 (fasta)

Gene Model

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

AlphaFold

Q62393

Predicted Effect

probably benign
Transcript: ENSMUST00000063496
AA Change: F79L

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000066826
Gene: ENSMUSG00000027506
AA Change: F79L

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

Predicted Effect

probably benign
Transcript: ENSMUST00000091354
AA Change: F118L

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000088913
Gene: ENSMUSG00000027506
AA Change: F118L

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 benign
Transcript: ENSMUST00000091355
AA Change: F79L

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000088914
Gene: ENSMUSG00000027506
AA Change: F79L

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

Predicted Effect

probably benign
Transcript: ENSMUST00000094381
AA Change: F118L

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000091943
Gene: ENSMUSG00000027506
AA Change: F118L

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 benign
Transcript: ENSMUST00000120143
AA Change: F79L

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000112830
Gene: ENSMUSG00000027506
AA Change: F79L

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

Predicted Effect

probably benign
Transcript: ENSMUST00000121038
AA Change: F56L

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000113368
Gene: ENSMUSG00000027506
AA Change: F56L

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

Predicted Effect

probably benign
Transcript: ENSMUST00000124956
AA Change: F56L

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000119077
Gene: ENSMUSG00000027506
AA Change: F56L

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

Predicted Effect

probably benign
Transcript: ENSMUST00000134788
AA Change: F128L

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000119899
Gene: ENSMUSG00000027506
AA Change: F128L

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: ENSMUST00000145905
AA Change: F76L

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000123147
Gene: ENSMUSG00000027506
AA Change: F76L

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000129736

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: 31 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acp3	T	A	9: 104,186,602 (GRCm39)		probably benign	Het
Ahnak2	A	G	12: 112,749,827 (GRCm39)	V137A	probably damaging	Het
Alk	G	T	17: 72,256,815 (GRCm39)	F681L	probably benign	Het
Ankrd35	T	C	3: 96,590,307 (GRCm39)		probably benign	Het
Aqp3	A	T	4: 41,093,614 (GRCm39)	C267S	probably benign	Het
Arl13b	T	A	16: 62,632,366 (GRCm39)	I76F	probably damaging	Het
Ccn2	T	A	10: 24,472,763 (GRCm39)	N224K	probably damaging	Het
Cdc42bpa	G	T	1: 179,827,002 (GRCm39)	R85L	probably damaging	Het
Dock4	T	G	12: 40,829,159 (GRCm39)	I1015R	probably damaging	Het
Dst	A	G	1: 34,268,333 (GRCm39)		probably benign	Het
Egfr	T	C	11: 16,861,811 (GRCm39)	Y1197H	probably damaging	Het
Endod1	A	G	9: 14,268,183 (GRCm39)	V434A	possibly damaging	Het
Exosc9	A	G	3: 36,607,287 (GRCm39)		probably benign	Het
Fgg	G	T	3: 82,915,781 (GRCm39)	R74L	probably benign	Het
Fmo2	A	T	1: 162,708,189 (GRCm39)	D315E	probably damaging	Het
H2-M3	G	A	17: 37,581,629 (GRCm39)	S97N	probably benign	Het
Ighv14-2	T	A	12: 113,958,211 (GRCm39)	T77S	probably benign	Het
Klhl9	A	T	4: 88,639,434 (GRCm39)	L269*	probably null	Het
Lin37	G	A	7: 30,256,585 (GRCm39)	R84W	probably damaging	Het
Macroh2a1	T	C	13: 56,252,112 (GRCm39)		probably benign	Het
Mkln1	T	C	6: 31,467,378 (GRCm39)	S31P	probably damaging	Het
Nacad	A	G	11: 6,549,528 (GRCm39)	L1221P	possibly damaging	Het
Nbr1	A	T	11: 101,447,053 (GRCm39)	N13I	probably damaging	Het
Ndfip1	T	C	18: 38,585,469 (GRCm39)	I161T	probably damaging	Het
Nsg1	A	G	5: 38,312,946 (GRCm39)		probably benign	Het
Rsbn1l	G	T	5: 21,113,232 (GRCm39)	T430K	probably damaging	Het
Serpina6	A	G	12: 103,620,210 (GRCm39)	S180P	probably benign	Het
Slc4a5	T	C	6: 83,249,106 (GRCm39)	L570P	probably damaging	Het
Tank	A	G	2: 61,480,636 (GRCm39)		probably benign	Het
Ubox5	A	C	2: 130,442,237 (GRCm39)	L150R	probably benign	Het
Zfp710	T	C	7: 79,731,581 (GRCm39)	S253P	probably benign	Het

Other mutations in Tpd52

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00926:Tpd52	APN	3	9,012,692 (GRCm39)	splice site	probably null
IGL02662:Tpd52	APN	3	9,009,775 (GRCm39)	splice site	probably null
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

2016-08-02