Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02120:Tdpoz1'

280551

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Tdpoz1

Ensembl Gene

ENSMUSG00000094084

Gene Name

TD and POZ domain containing 1

Synonyms

Spopl1, 2cpoz56

Accession Numbers

Essential gene?

Probably essential (E-score: 0.906) question?

Stock #

IGL02120

Quality Score

Status

Chromosome

Chromosomal Location

93576640-93583590 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 93577750 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 345 (S345P)

Ref Sequence

ENSEMBL: ENSMUSP00000138008 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000094413] [ENSMUST00000181541]

AlphaFold

P0DMR5

Predicted Effect

probably damaging
Transcript: ENSMUST00000094413
AA Change: S345P

PolyPhen 2 Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000091980
Gene: ENSMUSG00000094084
AA Change: S345P

Domain	Start	End	E-Value	Type
MATH	24	130	1.77e-5	SMART
BTB	188	287	5.55e-23	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000181541
AA Change: S345P

PolyPhen 2 Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000138008
Gene: ENSMUSG00000094084
AA Change: S345P

Domain	Start	End	E-Value	Type
MATH	24	130	1.77e-5	SMART
BTB	188	287	5.55e-23	SMART

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 44 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb11	T	C	2: 69,087,654 (GRCm39)	Y1037C	probably damaging	Het
Aldh16a1	G	A	7: 44,795,459 (GRCm39)	P400L	probably damaging	Het
Ankrd33b	T	C	15: 31,367,202 (GRCm39)	T113A	possibly damaging	Het
Aox3	T	A	1: 58,166,809 (GRCm39)	N177K	probably benign	Het
Arhgap29	T	A	3: 121,797,906 (GRCm39)	V532E	probably benign	Het
Brd8	C	T	18: 34,735,780 (GRCm39)	S899N	probably damaging	Het
Caskin1	G	T	17: 24,719,916 (GRCm39)	G401V	probably damaging	Het
Cemip	A	T	7: 83,600,771 (GRCm39)	M950K	probably damaging	Het
Cfap107	C	T	4: 144,144,981 (GRCm39)	R195H	probably benign	Het
Chrd	T	C	16: 20,553,291 (GRCm39)	V211A	probably damaging	Het
Ckap2l	T	C	2: 129,127,542 (GRCm39)	N212S	possibly damaging	Het
Clip1	T	C	5: 123,785,946 (GRCm39)	D246G	probably damaging	Het
Dlst	T	C	12: 85,165,342 (GRCm39)	S82P	probably benign	Het
Dmxl1	T	A	18: 50,027,245 (GRCm39)	L2118M	possibly damaging	Het
Dnah7a	T	C	1: 53,534,876 (GRCm39)	K2795E	possibly damaging	Het
Enpp5	T	A	17: 44,391,736 (GRCm39)	M55K	probably benign	Het
Epdr1	A	T	13: 19,778,641 (GRCm39)	S50T	probably damaging	Het
Gm7808	T	A	9: 19,839,313 (GRCm39)		probably benign	Het
Huwe1	T	A	X: 150,690,386 (GRCm39)	F2485I	possibly damaging	Het
Kcnb2	C	T	1: 15,780,085 (GRCm39)	T319M	probably damaging	Het
Lama1	G	A	17: 68,023,784 (GRCm39)	V60M	probably damaging	Het
Lingo3	A	T	10: 80,671,693 (GRCm39)	L79Q	probably damaging	Het
Magi2	T	A	5: 20,433,451 (GRCm39)		probably null	Het
Mob2	C	A	7: 141,564,035 (GRCm39)	V33L	possibly damaging	Het
Mus81	G	A	19: 5,535,661 (GRCm39)		probably benign	Het
Nup210l	G	A	3: 90,044,169 (GRCm39)	G490D	probably damaging	Het
Or13n4	A	C	7: 106,422,905 (GRCm39)	V276G	possibly damaging	Het
Pbp2	A	G	6: 135,286,816 (GRCm39)	V177A	probably damaging	Het
Pomt2	T	C	12: 87,158,326 (GRCm39)	D656G	probably benign	Het
Ppp2r1b	A	G	9: 50,773,069 (GRCm39)		probably benign	Het
Prp2rt	G	T	13: 97,235,285 (GRCm39)		probably benign	Het
Ptprq	T	C	10: 107,503,333 (GRCm39)	E775G	probably damaging	Het
Rad54l	T	C	4: 115,956,181 (GRCm39)	I549V	probably benign	Het
Ranbp10	T	C	8: 106,532,214 (GRCm39)	Y145C	probably damaging	Het
Runx1t1	A	T	4: 13,846,884 (GRCm39)	T223S	probably benign	Het
Stxbp6	G	T	12: 44,948,831 (GRCm39)		probably benign	Het
Syne2	A	G	12: 75,993,480 (GRCm39)	D2085G	probably damaging	Het
Szt2	C	T	4: 118,245,761 (GRCm39)	R1064Q	probably benign	Het
Taar3	A	G	10: 23,826,065 (GRCm39)	T204A	probably benign	Het
Tgm4	T	A	9: 122,875,594 (GRCm39)	I149N	probably damaging	Het
Tubal3	T	A	13: 3,980,675 (GRCm39)	I129N	probably damaging	Het
Vegfc	T	C	8: 54,634,436 (GRCm39)	F372L	possibly damaging	Het
Vmn2r9	G	A	5: 108,991,502 (GRCm39)	L620F	probably damaging	Het
Vwf	C	A	6: 125,592,997 (GRCm39)	L786M	probably benign	Het

Other mutations in Tdpoz1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01567:Tdpoz1	APN	3	93,578,013 (GRCm39)	missense	possibly damaging	0.48
IGL02633:Tdpoz1	APN	3	93,578,056 (GRCm39)	missense	probably benign	0.31
R0063:Tdpoz1	UTSW	3	93,578,121 (GRCm39)	missense	probably benign	0.25
R0464:Tdpoz1	UTSW	3	93,578,782 (GRCm39)	start codon destroyed	probably damaging	1.00
R1467:Tdpoz1	UTSW	3	93,578,637 (GRCm39)	missense	probably benign	0.04
R1467:Tdpoz1	UTSW	3	93,578,637 (GRCm39)	missense	probably benign	0.04
R2002:Tdpoz1	UTSW	3	93,578,710 (GRCm39)	missense	possibly damaging	0.94
R2143:Tdpoz1	UTSW	3	93,578,143 (GRCm39)	nonsense	probably null
R4792:Tdpoz1	UTSW	3	93,577,845 (GRCm39)	missense	possibly damaging	0.61
R4974:Tdpoz1	UTSW	3	93,578,454 (GRCm39)	missense	probably benign	0.02
R5004:Tdpoz1	UTSW	3	93,578,440 (GRCm39)	missense	probably benign	0.08
R5488:Tdpoz1	UTSW	3	93,577,974 (GRCm39)	missense	possibly damaging	0.63
R5489:Tdpoz1	UTSW	3	93,577,974 (GRCm39)	missense	possibly damaging	0.63
R7113:Tdpoz1	UTSW	3	93,578,113 (GRCm39)	missense	possibly damaging	0.76
R7261:Tdpoz1	UTSW	3	93,577,794 (GRCm39)	missense	not run
R7476:Tdpoz1	UTSW	3	93,578,082 (GRCm39)	missense	probably damaging	1.00
R7878:Tdpoz1	UTSW	3	93,578,431 (GRCm39)	nonsense	probably null
R7942:Tdpoz1	UTSW	3	93,578,517 (GRCm39)	missense	possibly damaging	0.77
R9561:Tdpoz1	UTSW	3	93,578,540 (GRCm39)	missense	probably benign	0.01
Z1176:Tdpoz1	UTSW	3	93,577,776 (GRCm39)	missense	probably damaging	1.00

Posted On

2015-04-16