Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL02357:Prom1'

290602

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Prom1

Ensembl Gene

ENSMUSG00000029086

Gene Name

prominin 1

Synonyms

4932416E19Rik, Prom, AC133, CD133, Prom-1

Accession Numbers

Is this an essential gene?

Possibly non essential (E-score: 0.450) question?

Stock #

IGL02357

Quality Score

Status

Chromosome

Chromosomal Location

43993620-44102032 bp(-) (GRCm38)

Type of Mutation

splice site

DNA Base Change (assembly)

A to G at 44029604 bp

Zygosity

Heterozygous

Amino Acid Change

Gene Model

predicted gene model for transcript(s): [ENSMUST00000030973] [ENSMUST00000074113] [ENSMUST00000087441] [ENSMUST00000087442] [ENSMUST00000165909] [ENSMUST00000171543] [ENSMUST00000177946] [ENSMUST00000179059] [ENSMUST00000197750] [ENSMUST00000197706]

Predicted Effect

probably benign
Transcript: ENSMUST00000030973

SMART Domains

Protein: ENSMUSP00000030973
Gene: ENSMUSG00000029086

Domain	Start	End	E-Value	Type
Pfam:Prominin	11	326	1.5e-113	PFAM
Pfam:Prominin	322	798	4.6e-188	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000074113

SMART Domains

Protein: ENSMUSP00000073751
Gene: ENSMUSG00000029086

Domain	Start	End	E-Value	Type
low complexity region	8	13	N/A	INTRINSIC
Pfam:Prominin	18	822	2e-294	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000087441

SMART Domains

Protein: ENSMUSP00000084707
Gene: ENSMUSG00000029086

Domain	Start	End	E-Value	Type
Pfam:Prominin	11	823	N/A	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000087442

SMART Domains

Protein: ENSMUSP00000084709
Gene: ENSMUSG00000029086

Domain	Start	End	E-Value	Type
Pfam:Prominin	11	823	N/A	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000165909

SMART Domains

Protein: ENSMUSP00000129909
Gene: ENSMUSG00000029086

Domain	Start	End	E-Value	Type
Pfam:Prominin	11	823	N/A	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000171543

SMART Domains

Protein: ENSMUSP00000128978
Gene: ENSMUSG00000029086

Domain	Start	End	E-Value	Type
Pfam:Prominin	11	838	N/A	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000177946

SMART Domains

Protein: ENSMUSP00000136483
Gene: ENSMUSG00000029086

Domain	Start	End	E-Value	Type
Pfam:Prominin	11	823	N/A	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000179059

SMART Domains

Protein: ENSMUSP00000137557
Gene: ENSMUSG00000029086

Domain	Start	End	E-Value	Type
Pfam:Prominin	11	838	N/A	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000196853

Predicted Effect

probably benign
Transcript: ENSMUST00000197750

SMART Domains

Protein: ENSMUSP00000142375
Gene: ENSMUSG00000029086

Domain	Start	End	E-Value	Type
Pfam:Prominin	11	823	N/A	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000197706

SMART Domains

Protein: ENSMUSP00000142632
Gene: ENSMUSG00000029086

Domain	Start	End	E-Value	Type
Pfam:Prominin	11	321	6.6e-110	PFAM
Pfam:Prominin	317	793	6.8e-188	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000198347

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000197749

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000199739

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a pentaspan transmembrane glycoprotein. The protein localizes to membrane protrusions and is often expressed on adult stem cells, where it is thought to function in maintaining stem cell properties by suppressing differentiation. Mutations in this gene have been shown to result in retinitis pigmentosa and Stargardt disease. Expression of this gene is also associated with several types of cancer. This gene is expressed from at least five alternative promoters that are expressed in a tissue-dependent manner. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2009]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit abnormal retina morphology, vasculature, and electrophysiology. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
3110035E14Rik	T	C	1: 9,613,319	I44T	possibly damaging	Het
Abhd8	A	G	8: 71,461,477	V169A	probably benign	Het
Adamts16	T	A	13: 70,738,585	T1029S	probably benign	Het
Adgrv1	C	A	13: 81,270,855	C6007F	probably benign	Het
Ak8	A	T	2: 28,700,213	H8L	probably benign	Het
Apol7b	A	G	15: 77,423,632	V221A	probably benign	Het
BC005624	G	A	2: 30,973,767	P235S	probably benign	Het
Casp9	C	A	4: 141,805,472	D226E	probably benign	Het
Cd96	A	G	16: 46,069,776		probably benign	Het
Celf1	A	T	2: 90,998,588	K27I	probably damaging	Het
Cfap65	A	T	1: 74,928,348	C190*	probably null	Het
Cib2	A	T	9: 54,549,886	H31Q	probably damaging	Het
Cyp3a59	T	C	5: 146,079,342	L3P	probably damaging	Het
Dnajc13	T	C	9: 104,162,359	M2104V	possibly damaging	Het
Emb	A	G	13: 117,249,471		probably benign	Het
Fbn2	G	T	18: 58,103,995	N645K	possibly damaging	Het
Fes	T	C	7: 80,383,830		probably null	Het
Flnc	A	T	6: 29,438,493	K129*	probably null	Het
Gckr	C	A	5: 31,307,790	H368N	possibly damaging	Het
Gm5145	A	T	17: 20,570,440	I27F	probably damaging	Het
Hecw1	A	G	13: 14,248,338		probably null	Het
Hook2	C	T	8: 84,994,985	Q291*	probably null	Het
Jakmip2	T	C	18: 43,547,127	T722A	possibly damaging	Het
Kcnt2	A	G	1: 140,351,269	I53V	probably benign	Het
Lipo2	A	G	19: 33,730,948	L222P	possibly damaging	Het
Mrc2	A	G	11: 105,325,721	D112G	probably damaging	Het
Mroh2b	A	G	15: 4,912,000	N338S	probably benign	Het
Mrpl23	T	A	7: 142,536,065		probably benign	Het
Myo18a	A	G	11: 77,850,247	N1442S	probably benign	Het
Ngdn	T	A	14: 55,021,936	V179E	probably damaging	Het
Nxn	A	G	11: 76,274,654		probably benign	Het
Olfr1349	T	A	7: 6,515,226	M68L	probably damaging	Het
Olfr1535	A	G	13: 21,555,602	L140P	probably damaging	Het
Osmr	A	T	15: 6,828,663	N441K	probably benign	Het
Plcb3	A	C	19: 6,958,178	L789R	probably damaging	Het
Plek	C	T	11: 16,981,846	R335H	probably damaging	Het
Pmp22	G	T	11: 63,158,308	V126F	probably benign	Het
Prss1	C	A	6: 41,463,205	Q159K	probably damaging	Het
Psd3	G	T	8: 67,963,869	H459N	probably benign	Het
Rusc2	T	G	4: 43,425,351	V1152G	possibly damaging	Het
Slc16a4	A	G	3: 107,303,099	I362V	probably benign	Het
Slc22a22	A	G	15: 57,247,448	V461A	probably benign	Het
Slc35e4	C	T	11: 3,912,640	R183Q	probably benign	Het
Spen	T	C	4: 141,477,579	T1246A	unknown	Het
Syt16	T	C	12: 74,266,842	V514A	probably benign	Het
Tdpoz2	A	G	3: 93,652,428	V79A	possibly damaging	Het
Tpgs1	A	G	10: 79,675,759	D245G	probably benign	Het
Ttn	A	G	2: 76,709,619	V34341A	probably benign	Het
Wwox	T	C	8: 114,712,142	V316A	possibly damaging	Het

Other mutations in Prom1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00158:Prom1	APN	5	44055937	missense	probably damaging	1.00
IGL00392:Prom1	APN	5	44007021	critical splice donor site	probably null
IGL00771:Prom1	APN	5	44029776	splice site	probably benign
IGL00841:Prom1	APN	5	44063116	splice site	probably benign
IGL01780:Prom1	APN	5	44029604	splice site	probably benign
IGL01991:Prom1	APN	5	44047506	missense	probably benign	0.13
IGL02220:Prom1	APN	5	44014789	missense	probably damaging	1.00
IGL02350:Prom1	APN	5	44029604	splice site	probably benign
IGL02420:Prom1	APN	5	44063154	missense	probably benign	0.15
IGL02468:Prom1	APN	5	44029698	missense	probably benign	0.01
IGL02633:Prom1	APN	5	44014775	missense	probably benign	0.20
IGL02871:Prom1	APN	5	44029676	missense	probably damaging	1.00
IGL02967:Prom1	APN	5	44044398	missense	probably damaging	1.00
IGL03033:Prom1	APN	5	44006160	splice site	probably null
IGL03072:Prom1	APN	5	44058662	intron	probably benign
IGL03149:Prom1	APN	5	44029734	missense	probably damaging	0.99
IGL03277:Prom1	APN	5	44032971	nonsense	probably null
BB001:Prom1	UTSW	5	44029769	missense	probably benign	0.03
BB011:Prom1	UTSW	5	44029769	missense	probably benign	0.03
R1018:Prom1	UTSW	5	44029714	missense	probably benign	0.02
R1456:Prom1	UTSW	5	44037623	missense	probably damaging	0.96
R1458:Prom1	UTSW	5	44032932	splice site	probably benign
R1536:Prom1	UTSW	5	44018353	missense	probably benign	0.39
R1747:Prom1	UTSW	5	44007031	missense	probably benign	0.03
R1772:Prom1	UTSW	5	44011224	missense	probably benign	0.00
R2020:Prom1	UTSW	5	44011253	splice site	probably benign
R2022:Prom1	UTSW	5	44029726	missense	probably benign	0.18
R2091:Prom1	UTSW	5	44014086	splice site	probably benign
R2163:Prom1	UTSW	5	44014163	missense	possibly damaging	0.72
R2177:Prom1	UTSW	5	44026739	missense	possibly damaging	0.67
R3015:Prom1	UTSW	5	44034391	missense	probably damaging	1.00
R3022:Prom1	UTSW	5	44047574	missense	probably damaging	1.00
R4824:Prom1	UTSW	5	44034390	missense	probably damaging	0.98
R4909:Prom1	UTSW	5	44045552	missense	probably benign	0.00
R4999:Prom1	UTSW	5	44037534	missense	probably benign	0.00
R5082:Prom1	UTSW	5	44000832	splice site	probably null
R5351:Prom1	UTSW	5	44044355	missense	probably damaging	1.00
R5401:Prom1	UTSW	5	44000805	missense	probably damaging	0.99
R5440:Prom1	UTSW	5	44058646	missense	probably benign
R5529:Prom1	UTSW	5	44026768	missense	probably damaging	1.00
R5537:Prom1	UTSW	5	44000776	critical splice donor site	probably null
R5669:Prom1	UTSW	5	44012943	missense	possibly damaging	0.64
R5723:Prom1	UTSW	5	44014894	missense	probably benign	0.30
R5778:Prom1	UTSW	5	44007047	missense	probably benign	0.13
R5924:Prom1	UTSW	5	44004963	missense	probably benign	0.02
R6034:Prom1	UTSW	5	44044408	critical splice acceptor site	probably null
R6034:Prom1	UTSW	5	44044408	critical splice acceptor site	probably null
R6038:Prom1	UTSW	5	44001793	missense	probably damaging	1.00
R6038:Prom1	UTSW	5	44001793	missense	probably damaging	1.00
R6145:Prom1	UTSW	5	44029649	missense	probably benign	0.05
R6374:Prom1	UTSW	5	44055983	missense	probably damaging	1.00
R6542:Prom1	UTSW	5	44037509	missense	possibly damaging	0.84
R6645:Prom1	UTSW	5	44047514	missense	probably damaging	0.98
R7158:Prom1	UTSW	5	44012913	missense	probably damaging	1.00
R7233:Prom1	UTSW	5	44037474	missense	possibly damaging	0.90
R7244:Prom1	UTSW	5	44020900	missense	probably benign	0.03
R7339:Prom1	UTSW	5	44101653	unclassified	probably benign
R7365:Prom1	UTSW	5	44020831	missense	probably damaging	1.00
R7573:Prom1	UTSW	5	44055930	missense	probably damaging	0.99
R7592:Prom1	UTSW	5	44063127	missense	probably damaging	0.96
R7809:Prom1	UTSW	5	44020867	missense	probably benign	0.10
R7915:Prom1	UTSW	5	44004935	missense	possibly damaging	0.88
R7924:Prom1	UTSW	5	44029769	missense	probably benign	0.03
R8122:Prom1	UTSW	5	44012953	missense	probably benign	0.12
R8187:Prom1	UTSW	5	44034366	missense	probably damaging	1.00
R8195:Prom1	UTSW	5	44037428	missense	possibly damaging	0.69
R8516:Prom1	UTSW	5	44007099	missense	probably benign	0.05
Z1177:Prom1	UTSW	5	44014838	missense	probably damaging	1.00

Posted On

2015-04-16