Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00392:Prom1'

5631

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Prom1

Ensembl Gene

ENSMUSG00000029086

Gene Name

prominin 1

Synonyms

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

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.322) question?

Stock #

IGL00392

Quality Score

Status

Chromosome

Chromosomal Location

44150962-44259374 bp(-) (GRCm39)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

A to G at 44164363 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000142375 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably null
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 null
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 null
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 null
Transcript: ENSMUST00000087441

SMART Domains

Protein: ENSMUSP00000084707
Gene: ENSMUSG00000029086

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

Predicted Effect

probably null
Transcript: ENSMUST00000087442

SMART Domains

Protein: ENSMUSP00000084709
Gene: ENSMUSG00000029086

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

Predicted Effect

probably null
Transcript: ENSMUST00000165909

SMART Domains

Protein: ENSMUSP00000129909
Gene: ENSMUSG00000029086

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

Predicted Effect

probably null
Transcript: ENSMUST00000171543

SMART Domains

Protein: ENSMUSP00000128978
Gene: ENSMUSG00000029086

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

Predicted Effect

probably null
Transcript: ENSMUST00000177946

SMART Domains

Protein: ENSMUSP00000136483
Gene: ENSMUSG00000029086

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

Predicted Effect

probably null
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 null
Transcript: ENSMUST00000197750

SMART Domains

Protein: ENSMUSP00000142375
Gene: ENSMUSG00000029086

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

Predicted Effect

probably null
Transcript: ENSMUST00000179059

SMART Domains

Protein: ENSMUSP00000137557
Gene: ENSMUSG00000029086

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

Predicted Effect

probably benign
Transcript: ENSMUST00000196378

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: 34 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Alpk3	T	C	7: 80,727,757 (GRCm39)	Y296H	possibly damaging	Het
Armh3	T	G	19: 45,928,927 (GRCm39)	H389P	probably benign	Het
Brca2	A	G	5: 150,464,705 (GRCm39)	T1490A	probably benign	Het
Btaf1	A	T	19: 36,987,102 (GRCm39)	D1732V	probably damaging	Het
Capzb	T	C	4: 139,016,258 (GRCm39)	I273T	probably benign	Het
Carmil1	G	A	13: 24,278,474 (GRCm39)	T165I	probably damaging	Het
Cc2d2a	A	G	5: 43,881,722 (GRCm39)		probably benign	Het
Cdh22	A	G	2: 164,954,521 (GRCm39)	Y667H	possibly damaging	Het
Celsr1	T	A	15: 85,815,546 (GRCm39)	Q1823L	probably benign	Het
Cfap210	T	C	2: 69,602,328 (GRCm39)	H361R	probably benign	Het
Cntrl	T	C	2: 35,027,826 (GRCm39)		probably benign	Het
Dhx15	A	T	5: 52,314,924 (GRCm39)		probably benign	Het
Dip2c	A	T	13: 9,543,144 (GRCm39)	D30V	probably damaging	Het
Dyrk2	T	C	10: 118,695,749 (GRCm39)	D503G	probably damaging	Het
Enpp1	T	A	10: 24,521,325 (GRCm39)	I801F	possibly damaging	Het
Fnbp4	A	C	2: 90,581,966 (GRCm39)		probably benign	Het
Klk1b5	T	A	7: 43,865,928 (GRCm39)	W2R	probably benign	Het
Lama2	T	C	10: 27,064,261 (GRCm39)	K1240R	probably benign	Het
Matn2	A	G	15: 34,403,002 (GRCm39)	N409S	probably benign	Het
Mep1b	A	T	18: 21,217,243 (GRCm39)	K121*	probably null	Het
Mettl26	T	C	17: 26,095,098 (GRCm39)		probably null	Het
Myh7	T	C	14: 55,224,845 (GRCm39)	E574G	probably damaging	Het
Nfkbie	G	A	17: 45,871,139 (GRCm39)		probably null	Het
Nlrc4	T	C	17: 74,753,529 (GRCm39)	R285G	probably benign	Het
Pax8	T	C	2: 24,333,144 (GRCm39)	Y66C	probably damaging	Het
Plxna2	A	G	1: 194,482,876 (GRCm39)	D1523G	probably damaging	Het
Pou2f1	A	G	1: 165,724,159 (GRCm39)		probably benign	Het
Ptk6	T	C	2: 180,837,611 (GRCm39)	D436G	probably benign	Het
Robo4	T	A	9: 37,319,525 (GRCm39)	F592I	probably damaging	Het
Sec24c	C	A	14: 20,743,271 (GRCm39)	S964R	probably benign	Het
Sgcb	G	T	5: 73,793,021 (GRCm39)	N260K	possibly damaging	Het
Smarcd2	T	C	11: 106,156,730 (GRCm39)	D221G	probably damaging	Het
Unc13b	C	T	4: 43,240,285 (GRCm39)	R3569W	probably damaging	Het
Zfpl1	C	A	19: 6,131,137 (GRCm39)	R285L	possibly damaging	Het

Other mutations in Prom1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00158:Prom1	APN	5	44,213,279 (GRCm39)	missense	probably damaging	1.00
IGL00771:Prom1	APN	5	44,187,118 (GRCm39)	splice site	probably benign
IGL00841:Prom1	APN	5	44,220,458 (GRCm39)	splice site	probably benign
IGL01780:Prom1	APN	5	44,186,946 (GRCm39)	splice site	probably benign
IGL01991:Prom1	APN	5	44,204,848 (GRCm39)	missense	probably benign	0.13
IGL02220:Prom1	APN	5	44,172,131 (GRCm39)	missense	probably damaging	1.00
IGL02350:Prom1	APN	5	44,186,946 (GRCm39)	splice site	probably benign
IGL02357:Prom1	APN	5	44,186,946 (GRCm39)	splice site	probably benign
IGL02420:Prom1	APN	5	44,220,496 (GRCm39)	missense	probably benign	0.15
IGL02468:Prom1	APN	5	44,187,040 (GRCm39)	missense	probably benign	0.01
IGL02633:Prom1	APN	5	44,172,117 (GRCm39)	missense	probably benign	0.20
IGL02871:Prom1	APN	5	44,187,018 (GRCm39)	missense	probably damaging	1.00
IGL02967:Prom1	APN	5	44,201,740 (GRCm39)	missense	probably damaging	1.00
IGL03033:Prom1	APN	5	44,163,502 (GRCm39)	splice site	probably null
IGL03072:Prom1	APN	5	44,216,004 (GRCm39)	intron	probably benign
IGL03149:Prom1	APN	5	44,187,076 (GRCm39)	missense	probably damaging	0.99
IGL03277:Prom1	APN	5	44,190,313 (GRCm39)	nonsense	probably null
BB001:Prom1	UTSW	5	44,187,111 (GRCm39)	missense	probably benign	0.03
BB011:Prom1	UTSW	5	44,187,111 (GRCm39)	missense	probably benign	0.03
R1018:Prom1	UTSW	5	44,187,056 (GRCm39)	missense	probably benign	0.02
R1456:Prom1	UTSW	5	44,194,965 (GRCm39)	missense	probably damaging	0.96
R1458:Prom1	UTSW	5	44,190,274 (GRCm39)	splice site	probably benign
R1536:Prom1	UTSW	5	44,175,695 (GRCm39)	missense	probably benign	0.39
R1747:Prom1	UTSW	5	44,164,373 (GRCm39)	missense	probably benign	0.03
R1772:Prom1	UTSW	5	44,168,566 (GRCm39)	missense	probably benign	0.00
R2020:Prom1	UTSW	5	44,168,595 (GRCm39)	splice site	probably benign
R2022:Prom1	UTSW	5	44,187,068 (GRCm39)	missense	probably benign	0.18
R2091:Prom1	UTSW	5	44,171,428 (GRCm39)	splice site	probably benign
R2163:Prom1	UTSW	5	44,171,505 (GRCm39)	missense	possibly damaging	0.72
R2177:Prom1	UTSW	5	44,184,081 (GRCm39)	missense	possibly damaging	0.67
R3015:Prom1	UTSW	5	44,191,733 (GRCm39)	missense	probably damaging	1.00
R3022:Prom1	UTSW	5	44,204,916 (GRCm39)	missense	probably damaging	1.00
R4824:Prom1	UTSW	5	44,191,732 (GRCm39)	missense	probably damaging	0.98
R4909:Prom1	UTSW	5	44,202,894 (GRCm39)	missense	probably benign	0.00
R4999:Prom1	UTSW	5	44,194,876 (GRCm39)	missense	probably benign	0.00
R5082:Prom1	UTSW	5	44,158,174 (GRCm39)	splice site	probably null
R5351:Prom1	UTSW	5	44,201,697 (GRCm39)	missense	probably damaging	1.00
R5401:Prom1	UTSW	5	44,158,147 (GRCm39)	missense	probably damaging	0.99
R5440:Prom1	UTSW	5	44,215,988 (GRCm39)	missense	probably benign
R5529:Prom1	UTSW	5	44,184,110 (GRCm39)	missense	probably damaging	1.00
R5537:Prom1	UTSW	5	44,158,118 (GRCm39)	critical splice donor site	probably null
R5669:Prom1	UTSW	5	44,170,285 (GRCm39)	missense	possibly damaging	0.64
R5723:Prom1	UTSW	5	44,172,236 (GRCm39)	missense	probably benign	0.30
R5778:Prom1	UTSW	5	44,164,389 (GRCm39)	missense	probably benign	0.13
R5924:Prom1	UTSW	5	44,162,305 (GRCm39)	missense	probably benign	0.02
R6034:Prom1	UTSW	5	44,201,750 (GRCm39)	critical splice acceptor site	probably null
R6034:Prom1	UTSW	5	44,201,750 (GRCm39)	critical splice acceptor site	probably null
R6038:Prom1	UTSW	5	44,159,135 (GRCm39)	missense	probably damaging	1.00
R6038:Prom1	UTSW	5	44,159,135 (GRCm39)	missense	probably damaging	1.00
R6145:Prom1	UTSW	5	44,186,991 (GRCm39)	missense	probably benign	0.05
R6374:Prom1	UTSW	5	44,213,325 (GRCm39)	missense	probably damaging	1.00
R6542:Prom1	UTSW	5	44,194,851 (GRCm39)	missense	possibly damaging	0.84
R6645:Prom1	UTSW	5	44,204,856 (GRCm39)	missense	probably damaging	0.98
R7158:Prom1	UTSW	5	44,170,255 (GRCm39)	missense	probably damaging	1.00
R7233:Prom1	UTSW	5	44,194,816 (GRCm39)	missense	possibly damaging	0.90
R7244:Prom1	UTSW	5	44,178,242 (GRCm39)	missense	probably benign	0.03
R7339:Prom1	UTSW	5	44,258,995 (GRCm39)	unclassified	probably benign
R7365:Prom1	UTSW	5	44,178,173 (GRCm39)	missense	probably damaging	1.00
R7573:Prom1	UTSW	5	44,213,272 (GRCm39)	missense	probably damaging	0.99
R7592:Prom1	UTSW	5	44,220,469 (GRCm39)	missense	probably damaging	0.96
R7809:Prom1	UTSW	5	44,178,209 (GRCm39)	missense	probably benign	0.10
R7915:Prom1	UTSW	5	44,162,277 (GRCm39)	missense	possibly damaging	0.88
R7924:Prom1	UTSW	5	44,187,111 (GRCm39)	missense	probably benign	0.03
R8122:Prom1	UTSW	5	44,170,295 (GRCm39)	missense	probably benign	0.12
R8187:Prom1	UTSW	5	44,191,708 (GRCm39)	missense	probably damaging	1.00
R8195:Prom1	UTSW	5	44,194,770 (GRCm39)	missense	possibly damaging	0.69
R8516:Prom1	UTSW	5	44,164,441 (GRCm39)	missense	probably benign	0.05
R8529:Prom1	UTSW	5	44,170,369 (GRCm39)	splice site	probably null
R8670:Prom1	UTSW	5	44,159,186 (GRCm39)	missense	probably benign	0.00
R8835:Prom1	UTSW	5	44,175,722 (GRCm39)	missense	probably damaging	1.00
R8907:Prom1	UTSW	5	44,159,135 (GRCm39)	missense	probably damaging	1.00
R9017:Prom1	UTSW	5	44,204,870 (GRCm39)	missense	probably damaging	1.00
R9104:Prom1	UTSW	5	44,172,161 (GRCm39)	missense	probably benign	0.02
R9173:Prom1	UTSW	5	44,220,520 (GRCm39)	missense	possibly damaging	0.94
R9361:Prom1	UTSW	5	44,213,229 (GRCm39)	missense	probably damaging	0.99
R9519:Prom1	UTSW	5	44,213,403 (GRCm39)	missense	possibly damaging	0.61
R9574:Prom1	UTSW	5	44,158,179 (GRCm39)	missense	probably benign	0.01
R9604:Prom1	UTSW	5	44,187,075 (GRCm39)	missense	probably damaging	0.99
R9615:Prom1	UTSW	5	44,164,399 (GRCm39)	missense	probably damaging	1.00
R9680:Prom1	UTSW	5	44,190,284 (GRCm39)	critical splice donor site	probably null
Z1177:Prom1	UTSW	5	44,172,180 (GRCm39)	missense	probably damaging	1.00

Posted On

2012-04-20