Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02419:Prox1'

292566

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Prox1

Ensembl Gene

ENSMUSG00000010175

Gene Name

prospero homeobox 1

Synonyms

A230003G05Rik

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL02419

Quality Score

Status

Chromosome

Chromosomal Location

190118035-190170714 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 190161130 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Threonine at position 373 (A373T)

Ref Sequence

ENSEMBL: ENSMUSP00000135066 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000010319] [ENSMUST00000175916] [ENSMUST00000177288]

AlphaFold

P48437

Predicted Effect

probably benign
Transcript: ENSMUST00000010319
AA Change: A373T

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000010319
Gene: ENSMUSG00000010175
AA Change: A373T

Domain	Start	End	E-Value	Type
low complexity region	208	223	N/A	INTRINSIC
SCOP:d1fxkc_	227	363	9e-5	SMART
low complexity region	514	526	N/A	INTRINSIC
low complexity region	529	545	N/A	INTRINSIC
Pfam:HPD	578	735	8.9e-91	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000175916
AA Change: A373T

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000135703
Gene: ENSMUSG00000010175
AA Change: A373T

Domain	Start	End	E-Value	Type
low complexity region	208	223	N/A	INTRINSIC
SCOP:d1fxkc_	227	363	9e-5	SMART
low complexity region	514	526	N/A	INTRINSIC
low complexity region	529	545	N/A	INTRINSIC
Pfam:HPD	578	735	8.9e-91	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000177288
AA Change: A373T

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000135066
Gene: ENSMUSG00000010175
AA Change: A373T

Domain	Start	End	E-Value	Type
low complexity region	208	223	N/A	INTRINSIC
SCOP:d1fxkc_	227	363	9e-5	SMART
low complexity region	514	526	N/A	INTRINSIC
low complexity region	529	545	N/A	INTRINSIC
Pfam:HPD	579	732	2.2e-86	PFAM

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a member of the homeobox transcription factor family. Members of this family contain a homeobox domain that consists of a 60-amino acid helix-turn-helix structure that binds DNA and RNA. The protein encoded by this gene is conserved across vertebrates and may play an essential role during development. Altered levels of this protein have been reported in cancers of different organs, such as colon, brain, blood, breast, pancreas, liver and esophagus. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2012]
PHENOTYPE: Homozygous mutation of this gene results in embryonic lethality with impaired development of the lens, lymphatic system, liver and pancreas. Heterozygous mutation results in early postnatal lethality with varying penetrance on different genetic backgrounds, obesity and lymphatic vessel abnormalities [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 47 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933402J07Rik	T	C	8: 87,586,099	F171L	possibly damaging	Het
Abca2	A	G	2: 25,446,837	N2291D	probably benign	Het
Adamts9	A	G	6: 92,796,997	V1145A	probably benign	Het
Adcy2	A	G	13: 68,982,363	V135A	probably benign	Het
Akr1c14	A	T	13: 4,080,617		probably null	Het
Aptx	G	T	4: 40,691,032	A229E	probably benign	Het
Ash1l	T	C	3: 88,985,565	S1584P	probably benign	Het
Catsper3	A	T	13: 55,808,068	T329S	possibly damaging	Het
Cntrl	A	G	2: 35,134,043	D27G	probably damaging	Het
Cobll1	A	T	2: 65,151,048	I98K	probably damaging	Het
Ctdp1	T	C	18: 80,420,584	K79R	probably damaging	Het
Cwf19l2	T	C	9: 3,418,777		probably null	Het
Cyp11b2	A	T	15: 74,851,055	F498Y	probably damaging	Het
Dnpep	A	G	1: 75,315,688	I162T	probably damaging	Het
Efcab9	T	C	11: 32,522,950	I166V	probably benign	Het
Ep400	A	T	5: 110,697,376		probably null	Het
Gata6	G	A	18: 11,054,220	G50R	probably damaging	Het
Gm9631	G	A	11: 121,943,652			Het
Grifin	T	C	5: 140,564,700	T20A	probably benign	Het
Hnf4a	A	T	2: 163,566,282	I352F	probably damaging	Het
Ifi204	T	C	1: 173,749,380	T552A	possibly damaging	Het
Ifi205	C	T	1: 174,017,614	A201T	probably damaging	Het
Kcnk6	A	G	7: 29,225,202	V259A	probably benign	Het
Kif21b	A	G	1: 136,151,267	N451S	probably benign	Het
Klhl24	T	A	16: 20,107,368	Y215*	probably null	Het
Lyst	G	A	13: 13,660,956	C1741Y	probably benign	Het
Mical1	A	G	10: 41,482,277	K429E	possibly damaging	Het
Misp	A	G	10: 79,827,871		probably benign	Het
Mon2	T	C	10: 123,016,447	N1007S	probably benign	Het
Olfr1420	A	T	19: 11,896,822	Y267F	probably benign	Het
Olfr228	T	A	2: 86,482,915	I276F	probably damaging	Het
Olfr307	C	A	7: 86,335,662	V245F	probably damaging	Het
Olfr624	A	T	7: 103,670,475	C185*	probably null	Het
Pex6	C	A	17: 46,724,435	T840N	possibly damaging	Het
Rapgef3	G	T	15: 97,750,290	N679K	probably benign	Het
Serpina3n	T	C	12: 104,413,518	V390A	possibly damaging	Het
Sirpb1a	A	G	3: 15,426,338	F23S	probably benign	Het
Slc44a3	T	C	3: 121,490,257	T449A	probably benign	Het
Smad6	G	A	9: 63,953,518		probably benign	Het
Sos2	C	T	12: 69,616,990	M573I	probably benign	Het
St8sia1	A	T	6: 142,828,935	I306N	probably damaging	Het
Tnks1bp1	T	C	2: 85,071,781	S1674P	possibly damaging	Het
Trim47	G	A	11: 116,106,201	R576W	probably damaging	Het
Wdr86	A	T	5: 24,722,704	I79N	probably damaging	Het
Wwp2	T	A	8: 107,549,815	V473D	probably damaging	Het
Zc3h12a	T	C	4: 125,119,788	T428A	probably benign	Het
Zfp592	A	G	7: 81,038,245	E973G	probably damaging	Het

Other mutations in Prox1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00588:Prox1	APN	1	190123410	splice site	probably benign
IGL01729:Prox1	APN	1	190161175	missense	probably benign
IGL02167:Prox1	APN	1	190161280	missense	probably benign	0.13
IGL02416:Prox1	APN	1	190161130	missense	probably benign	0.00
IGL03234:Prox1	APN	1	190161636	missense	probably damaging	1.00
R0069:Prox1	UTSW	1	190160919	missense	possibly damaging	0.85
R0514:Prox1	UTSW	1	190161456	missense	probably damaging	0.99
R1249:Prox1	UTSW	1	190147061	missense	possibly damaging	0.94
R1299:Prox1	UTSW	1	190146943	splice site	probably benign
R1601:Prox1	UTSW	1	190161006	missense	probably damaging	0.99
R1893:Prox1	UTSW	1	190160518	splice site	probably benign
R2090:Prox1	UTSW	1	190160812	missense	probably damaging	0.99
R2366:Prox1	UTSW	1	190161882	missense	probably damaging	0.96
R4614:Prox1	UTSW	1	190162008	missense	probably damaging	0.99
R4799:Prox1	UTSW	1	190153472	missense	probably damaging	0.98
R4873:Prox1	UTSW	1	190162122	missense	probably damaging	0.99
R4875:Prox1	UTSW	1	190162122	missense	probably damaging	0.99
R5124:Prox1	UTSW	1	190161279	missense	possibly damaging	0.73
R5149:Prox1	UTSW	1	190147053	missense	possibly damaging	0.89
R5256:Prox1	UTSW	1	190161441	missense	probably benign	0.02
R5545:Prox1	UTSW	1	190147142	missense	probably damaging	1.00
R5985:Prox1	UTSW	1	190146955	missense	possibly damaging	0.93
R5993:Prox1	UTSW	1	190162239	missense	probably damaging	1.00
R6833:Prox1	UTSW	1	190160778	missense	probably damaging	0.99
R7335:Prox1	UTSW	1	190161845	missense	possibly damaging	0.93
R7385:Prox1	UTSW	1	190162126	missense	probably benign
R7572:Prox1	UTSW	1	190123386	missense	probably benign	0.10
R7608:Prox1	UTSW	1	190153445	missense	probably benign	0.24
R7655:Prox1	UTSW	1	190162221	missense	probably damaging	0.99
R7656:Prox1	UTSW	1	190162221	missense	probably damaging	0.99
R8070:Prox1	UTSW	1	190160910	missense	probably damaging	0.96
R8730:Prox1	UTSW	1	190162041	missense	possibly damaging	0.85
R9141:Prox1	UTSW	1	190160314	splice site	probably null
R9216:Prox1	UTSW	1	190160708	missense	possibly damaging	0.91
R9273:Prox1	UTSW	1	190161045	missense	possibly damaging	0.91
Z1088:Prox1	UTSW	1	190161999	missense	probably damaging	0.96

Posted On

2015-04-16