Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03095:Htatip2'

418533

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 #

IGL03095

Quality Score

Status

Chromosome

Chromosomal Location

49408863-49423723 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 49409522 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 92 (E92G)

Ref Sequence

ENSEMBL: ENSMUSP00000146858 (fasta)

Gene Model

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

AlphaFold

Q9Z2G9

Predicted Effect

probably benign
Transcript: ENSMUST00000085272
AA Change: E59G

PolyPhen 2 Score 0.013 (Sensitivity: 0.96; Specificity: 0.78)

SMART Domains

Protein: ENSMUSP00000082374
Gene: ENSMUSG00000039745
AA Change: E59G

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 benign
Transcript: ENSMUST00000207895
AA Change: E92G

PolyPhen 2 Score 0.013 (Sensitivity: 0.96; Specificity: 0.78)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000208048

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: 40 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Bche	A	G	3: 73,609,216 (GRCm39)	L70P	probably damaging	Het
Cacna1h	C	A	17: 25,602,752 (GRCm39)		probably benign	Het
Ccdc60	A	T	5: 116,284,274 (GRCm39)		probably benign	Het
Cep152	T	C	2: 125,460,371 (GRCm39)	N194D	probably benign	Het
Chodl	T	A	16: 78,738,321 (GRCm39)	D96E	probably damaging	Het
Clca3b	C	A	3: 144,552,671 (GRCm39)	G122*	probably null	Het
Crybg1	T	C	10: 43,865,245 (GRCm39)	I1411V	probably damaging	Het
Dock9	A	C	14: 121,876,940 (GRCm39)	V477G	probably damaging	Het
Fam149a	T	A	8: 45,794,265 (GRCm39)	E632D	probably damaging	Het
Gabra4	A	G	5: 71,781,358 (GRCm39)	V351A	probably damaging	Het
Gen1	T	A	12: 11,298,265 (GRCm39)	I319L	probably benign	Het
Gne	C	A	4: 44,055,211 (GRCm39)	D255Y	probably damaging	Het
Gpr146	A	G	5: 139,378,705 (GRCm39)	H169R	probably benign	Het
Ipcef1	A	G	10: 6,869,732 (GRCm39)	S223P	probably damaging	Het
Kcnmb2	T	A	3: 32,252,276 (GRCm39)	*37R	probably null	Het
Lin54	A	T	5: 100,602,337 (GRCm39)	V400E	probably damaging	Het
Ltbp1	C	A	17: 75,589,413 (GRCm39)	Q511K	possibly damaging	Het
Lyg1	A	G	1: 37,989,849 (GRCm39)		probably benign	Het
Nampt	T	A	12: 32,892,685 (GRCm39)	V324D	possibly damaging	Het
Nat8b-ps	T	G	6: 85,909,950 (GRCm39)		probably benign	Het
Neb	G	A	2: 52,059,100 (GRCm39)	H213Y	probably damaging	Het
Nfkb1	T	C	3: 135,324,591 (GRCm39)	E179G	possibly damaging	Het
Nlrc5	T	A	8: 95,248,536 (GRCm39)		probably benign	Het
Or12d2	T	A	17: 37,624,664 (GRCm39)	I204F	probably benign	Het
Or8k38	A	T	2: 86,488,775 (GRCm39)	L9Q	possibly damaging	Het
Pcdh15	G	A	10: 74,191,706 (GRCm39)	V601M	probably damaging	Het
Pigc	G	A	1: 161,798,345 (GRCm39)	R109Q	possibly damaging	Het
Plxna2	A	G	1: 194,483,435 (GRCm39)	N1582S	probably damaging	Het
Pros1	C	T	16: 62,728,132 (GRCm39)	Q279*	probably null	Het
Psmb5	A	G	14: 54,854,014 (GRCm39)	S155P	probably damaging	Het
Rock2	T	A	12: 17,003,341 (GRCm39)	D393E	probably benign	Het
Slc25a21	T	C	12: 56,785,410 (GRCm39)	T156A	probably benign	Het
Slc44a1	T	A	4: 53,536,374 (GRCm39)	Y183*	probably null	Het
Sytl2	C	T	7: 90,041,642 (GRCm39)	P580L	probably damaging	Het
Tktl2	G	T	8: 66,964,936 (GRCm39)	V165F	probably damaging	Het
Trim55	A	G	3: 19,728,629 (GRCm39)	E480G	probably benign	Het
Vmn2r92	T	A	17: 18,386,972 (GRCm39)	S104T	possibly damaging	Het
Vps51	C	T	19: 6,120,078 (GRCm39)	R490H	probably damaging	Het
Wdr43	G	A	17: 71,948,282 (GRCm39)	V391I	probably benign	Het
Zranb1	T	G	7: 132,551,635 (GRCm39)	Y121*	probably null	Het

Other mutations in Htatip2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01328:Htatip2	APN	7	49,420,697 (GRCm39)	critical splice donor site	probably null
IGL01417:Htatip2	APN	7	49,420,573 (GRCm39)	missense	possibly damaging	0.61
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

2016-08-02