Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01328:Htatip2'

74406

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Htatip2

Ensembl Gene

ENSMUSG00000039745

Gene Name

HIV-1 Tat interactive protein 2

Synonyms

TIP30

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.725) question?

Stock #

IGL01328

Quality Score

Status

Chromosome

Chromosomal Location

49408863-49423723 bp(+) (GRCm39)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

T to A at 49420697 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000146858 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000085272] [ENSMUST00000085272] [ENSMUST00000207895] [ENSMUST00000207895]

AlphaFold

Q9Z2G9

Predicted Effect

probably null
Transcript: ENSMUST00000085272

SMART Domains

Protein: ENSMUSP00000082374
Gene: ENSMUSG00000039745

Domain	Start	End	E-Value	Type
Pfam:Semialdhyde_dh	20	116	2.1e-8	PFAM
Pfam:NAD_binding_10	46	214	2.4e-14	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000085272

SMART Domains

Protein: ENSMUSP00000082374
Gene: ENSMUSG00000039745

Domain	Start	End	E-Value	Type
Pfam:Semialdhyde_dh	20	116	2.1e-8	PFAM
Pfam:NAD_binding_10	46	214	2.4e-14	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000207895

Predicted Effect

probably null
Transcript: ENSMUST00000207895

Coding Region Coverage

Validation Efficiency

MGI Phenotype

PHENOTYPE: Inactivation of this gene increases susceptibility to tumorigenesis. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts19	C	T	18: 59,181,954 (GRCm39)	S1131F	possibly damaging	Het
Alg14	G	A	3: 121,155,232 (GRCm39)	V151I	probably benign	Het
Ano5	G	A	7: 51,206,019 (GRCm39)		probably null	Het
Arhgef28	A	T	13: 98,106,831 (GRCm39)	C698S	probably damaging	Het
Cacnb4	T	C	2: 52,354,637 (GRCm39)	H247R	probably damaging	Het
Clec12b	A	T	6: 129,356,517 (GRCm39)	W216R	probably damaging	Het
Clnk	C	T	5: 38,941,871 (GRCm39)	S35N	possibly damaging	Het
Cnot4	T	A	6: 35,055,049 (GRCm39)	N80I	probably damaging	Het
Cntn5	C	T	9: 9,781,773 (GRCm39)	M635I	probably damaging	Het
Dlg5	A	G	14: 24,252,419 (GRCm39)	V107A	probably damaging	Het
Dsc2	A	T	18: 20,181,343 (GRCm39)	F155I	probably damaging	Het
Dtwd1	A	G	2: 126,006,739 (GRCm39)	I254V	probably damaging	Het
Dzip3	A	T	16: 48,792,621 (GRCm39)	D221E	probably damaging	Het
F13b	T	A	1: 139,435,820 (GRCm39)		probably benign	Het
Fam131b	G	A	6: 42,295,206 (GRCm39)	L324F	probably damaging	Het
Fam83a	A	T	15: 57,849,901 (GRCm39)	R148S	probably damaging	Het
Farsb	T	C	1: 78,447,729 (GRCm39)	I236V	probably benign	Het
Fat4	T	A	3: 39,034,807 (GRCm39)	F2820I	probably damaging	Het
Fat4	T	A	3: 38,944,140 (GRCm39)	V1011E	probably damaging	Het
Fgf7	A	G	2: 125,930,164 (GRCm39)	E99G	probably damaging	Het
Fign	T	C	2: 63,809,216 (GRCm39)	T685A	probably damaging	Het
Fubp1	G	A	3: 151,925,855 (GRCm39)	G289E	probably damaging	Het
Gata6	G	T	18: 11,064,530 (GRCm39)	M477I	probably damaging	Het
Gm14496	A	G	2: 181,637,673 (GRCm39)	Y249C	probably damaging	Het
Hectd1	T	C	12: 51,807,904 (GRCm39)	D1768G	probably damaging	Het
Irs2	C	A	8: 11,054,792 (GRCm39)	Q1213H	probably damaging	Het
Jak3	C	T	8: 72,132,264 (GRCm39)	R210C	probably damaging	Het
Klk1b27	T	C	7: 43,705,303 (GRCm39)	S157P	probably damaging	Het
Klri1	T	C	6: 129,675,800 (GRCm39)	S157G	probably damaging	Het
Mtmr2	G	T	9: 13,713,223 (GRCm39)	G395*	probably null	Het
Mx1	T	A	16: 97,256,832 (GRCm39)	I116F	probably damaging	Het
Oip5	A	C	2: 119,442,314 (GRCm39)	M200R	possibly damaging	Het
Or10ag56	T	A	2: 87,139,925 (GRCm39)	L284Q	possibly damaging	Het
Or10g3	T	C	14: 52,609,967 (GRCm39)	D181G	probably damaging	Het
Or4b1d	T	C	2: 89,969,418 (GRCm39)	K22E	probably benign	Het
Or4k39	A	G	2: 111,239,564 (GRCm39)	Y268C	probably damaging	Het
Pamr1	T	A	2: 102,472,482 (GRCm39)	S594T	probably benign	Het
Phf13	C	T	4: 152,080,285 (GRCm39)	E13K	probably benign	Het
Plekha6	A	T	1: 133,200,074 (GRCm39)		probably null	Het
Rad17	A	C	13: 100,754,311 (GRCm39)	N636K	probably benign	Het
Rad21	T	A	15: 51,836,520 (GRCm39)	D217V	probably damaging	Het
Slc7a10	A	G	7: 34,885,917 (GRCm39)	D4G	possibly damaging	Het
Stc1	A	G	14: 69,275,726 (GRCm39)	D173G	probably benign	Het
Supt16	C	T	14: 52,414,489 (GRCm39)	E438K	probably benign	Het
Tex15	C	T	8: 34,061,424 (GRCm39)	Q559*	probably null	Het
Trim44	T	A	2: 102,230,365 (GRCm39)	E222V	probably benign	Het
Ubr5	T	C	15: 37,981,767 (GRCm39)	E2343G	possibly damaging	Het
Vmn2r86	T	C	10: 130,288,365 (GRCm39)	T379A	possibly damaging	Het
Vmn2r93	A	G	17: 18,545,819 (GRCm39)	T564A	probably benign	Het
Vsir	C	A	10: 60,203,539 (GRCm39)		probably benign	Het
Vwc2l	T	A	1: 70,768,163 (GRCm39)		probably null	Het
Xrn2	T	C	2: 146,871,850 (GRCm39)	V396A	possibly damaging	Het
Zbbx	T	A	3: 75,000,382 (GRCm39)	K208*	probably null	Het
Zfhx4	C	A	3: 5,309,344 (GRCm39)	L857M	probably damaging	Het
Zfp180	A	G	7: 23,800,904 (GRCm39)	D53G	probably benign	Het

Other mutations in Htatip2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01417:Htatip2	APN	7	49,420,573 (GRCm39)	missense	possibly damaging	0.61
IGL03095:Htatip2	APN	7	49,409,522 (GRCm39)	missense	probably benign	0.01
R0084:Htatip2	UTSW	7	49,409,420 (GRCm39)	missense	probably damaging	1.00
R0349:Htatip2	UTSW	7	49,423,140 (GRCm39)	missense	probably benign	0.00
R0631:Htatip2	UTSW	7	49,423,059 (GRCm39)	missense	possibly damaging	0.84
R4612:Htatip2	UTSW	7	49,422,345 (GRCm39)	nonsense	probably null
R4688:Htatip2	UTSW	7	49,423,171 (GRCm39)	missense	probably damaging	1.00
R4715:Htatip2	UTSW	7	49,420,592 (GRCm39)	missense	probably damaging	1.00
R6074:Htatip2	UTSW	7	49,422,322 (GRCm39)	critical splice acceptor site	probably null
R6207:Htatip2	UTSW	7	49,420,567 (GRCm39)	missense	probably benign	0.00
R6862:Htatip2	UTSW	7	49,420,666 (GRCm39)	missense	probably benign	0.00
R7016:Htatip2	UTSW	7	49,420,583 (GRCm39)	missense	possibly damaging	0.64
R7225:Htatip2	UTSW	7	49,420,604 (GRCm39)	missense	possibly damaging	0.74
R7242:Htatip2	UTSW	7	49,422,354 (GRCm39)	missense	probably benign	0.00
R7408:Htatip2	UTSW	7	49,409,534 (GRCm39)	missense	probably benign	0.22
R7452:Htatip2	UTSW	7	49,423,074 (GRCm39)	missense	probably benign	0.01
R7718:Htatip2	UTSW	7	49,420,632 (GRCm39)	missense	possibly damaging	0.54
R9451:Htatip2	UTSW	7	49,408,987 (GRCm39)	missense	unknown

Posted On

2013-10-07