Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03072:Prom1'

417564

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 #

IGL03072

Quality Score

Status

Chromosome

Chromosomal Location

44150962-44259374 bp(-) (GRCm39)

Type of Mutation

intron

DNA Base Change (assembly)

T to C at 44216004 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000142375 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000030973] [ENSMUST00000074113] [ENSMUST00000087441] [ENSMUST00000087442] [ENSMUST00000165909] [ENSMUST00000171543] [ENSMUST00000177946] [ENSMUST00000179059] [ENSMUST00000197706] [ENSMUST00000196178] [ENSMUST00000197750]

AlphaFold

no structure available at present

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: ENSMUST00000195942

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000196852

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: ENSMUST00000196178

SMART Domains

Protein: ENSMUSP00000143403
Gene: ENSMUSG00000029086

Domain	Start	End	E-Value	Type
Pfam:Prominin	11	98	4.3e-19	PFAM

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

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: 27 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2210408I21Rik	G	A	13: 77,408,116 (GRCm39)	V148I	probably benign	Het
Ahcyl2	T	C	6: 29,906,500 (GRCm39)		probably benign	Het
Ahnak	T	C	19: 8,983,872 (GRCm39)	S1719P	probably benign	Het
C2cd5	A	G	6: 143,025,609 (GRCm39)	I196T	possibly damaging	Het
Cdhr2	A	G	13: 54,874,474 (GRCm39)	I849V	probably benign	Het
Cpsf3	A	G	12: 21,345,089 (GRCm39)	K134E	possibly damaging	Het
Dnai1	A	G	4: 41,602,979 (GRCm39)	T161A	probably benign	Het
Gm17093	G	T	14: 44,758,129 (GRCm39)		probably benign	Het
Igf2bp2	A	G	16: 21,886,891 (GRCm39)		probably null	Het
Lcor	T	C	19: 41,547,253 (GRCm39)	V279A	possibly damaging	Het
Myo9a	C	A	9: 59,716,725 (GRCm39)	T475K	possibly damaging	Het
Nat8f4	A	G	6: 85,877,836 (GRCm39)		probably benign	Het
Neto1	A	G	18: 86,516,714 (GRCm39)	T344A	probably benign	Het
Or6c203	A	T	10: 129,010,358 (GRCm39)	D177E	probably damaging	Het
Or7c19	A	G	8: 85,957,139 (GRCm39)	N5S	probably benign	Het
Or8k17	A	T	2: 86,066,804 (GRCm39)	M118K	probably damaging	Het
Pde8a	A	T	7: 80,958,557 (GRCm39)	I312F	probably damaging	Het
Ppp3cb	A	G	14: 20,581,793 (GRCm39)	I74T	probably damaging	Het
Psg29	T	C	7: 16,942,719 (GRCm39)	V240A	probably benign	Het
Reep4	T	C	14: 70,785,675 (GRCm39)	S238P	probably damaging	Het
Stxbp2	A	T	8: 3,691,971 (GRCm39)	I538F	probably benign	Het
Tmprss5	T	A	9: 49,020,318 (GRCm39)	N99K	possibly damaging	Het
Tph1	G	A	7: 46,302,283 (GRCm39)	T313M	probably damaging	Het
Tprn	T	C	2: 25,154,530 (GRCm39)	S611P	probably damaging	Het
Upp2	G	T	2: 58,645,435 (GRCm39)		probably null	Het
Vezt	C	A	10: 93,809,895 (GRCm39)	A549S	probably damaging	Het
Zfp786	A	G	6: 47,798,177 (GRCm39)	Y254H	probably benign	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
IGL00392:Prom1	APN	5	44,164,363 (GRCm39)	critical splice donor site	probably null
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
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

2016-08-02