Mutagenetix > Incidental Mutations

Incidental Mutation 'R1458:Prom1'

161867

Institutional Source

Beutler Lab

Gene Symbol

Prom1

Ensembl Gene

ENSMUSG00000029086

Gene Name

prominin 1

Synonyms

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

MMRRC Submission

039513-MU

Accession Numbers

Is this an essential gene?

Possibly non essential (E-score: 0.301) question?

Stock #

R1458 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

43993620-44102032 bp(-) (GRCm38)

Type of Mutation

splice site

DNA Base Change (assembly)

T to C at 44032932 bp

Zygosity

Heterozygous

Amino Acid Change

Gene Model

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

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: 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

noncoding transcript
Transcript: ENSMUST00000197749

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: ENSMUST00000198347

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000199739

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.1%
3x: 98.3%
10x: 96.3%
20x: 92.8%

Validation Efficiency

98% (95/97)

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: 94 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700036A12Rik	A	G	9: 60,769,761		noncoding transcript	Het
A430110L20Rik	T	A	1: 181,227,858		noncoding transcript	Het
Abce1	T	C	8: 79,707,235	K63R	possibly damaging	Het
Acp6	A	G	3: 97,173,788		probably benign	Het
Adamts13	T	A	2: 26,988,354	L579Q	probably damaging	Het
Adamtsl3	T	A	7: 82,523,320	M497K	probably damaging	Het
Adgrb2	T	A	4: 130,014,591	M1042K	possibly damaging	Het
Akap12	A	T	10: 4,353,693	S168C	probably damaging	Het
Akap3	A	T	6: 126,865,554	M379L	probably damaging	Het
Aldh6a1	C	T	12: 84,439,663	M135I	probably null	Het
Arhgef12	A	G	9: 42,988,998	S860P	probably damaging	Het
Atp11b	A	C	3: 35,789,558	T185P	probably damaging	Het
Bcas1	T	C	2: 170,387,951	D243G	probably damaging	Het
Cdhr2	T	A	13: 54,717,872	S228T	probably damaging	Het
Cic	T	C	7: 25,279,737		probably benign	Het
Cmya5	T	A	13: 93,065,327	I3376L	probably benign	Het
Ctrc	C	A	4: 141,846,224		probably null	Het
D230025D16Rik	T	C	8: 105,246,556		probably null	Het
Dchs1	G	T	7: 105,755,244	P2697Q	probably damaging	Het
Dmbt1	A	G	7: 131,044,487		probably benign	Het
Drd2	G	A	9: 49,402,212	R227H	probably damaging	Het
Dscc1	C	A	15: 55,086,764	C195F	probably damaging	Het
Dzip1	T	A	14: 118,922,713	M28L	probably benign	Het
Edar	A	T	10: 58,607,366	S313T	probably benign	Het
Eef1e1	C	A	13: 38,656,123	A69S	probably damaging	Het
Fbn1	A	G	2: 125,301,929	V2760A	probably benign	Het
Fez1	GACAAACA	GACA	9: 36,870,549		probably null	Het
Fgl1	C	G	8: 41,210,459	A11P	possibly damaging	Het
Fras1	T	C	5: 96,600,733	V689A	probably benign	Het
Fry	T	A	5: 150,380,859	D571E	probably damaging	Het
Gm11232	T	A	4: 71,757,213	R104*	probably null	Het
Gm1527	A	G	3: 28,918,050	I439V	possibly damaging	Het
Gm4922	C	A	10: 18,783,892	G361*	probably null	Het
Gm7052	T	A	17: 22,040,466		probably benign	Het
Gm7534	T	C	4: 134,196,833	D467G	probably benign	Het
Gpatch8	A	T	11: 102,481,229	S494R	unknown	Het
Gria2	A	T	3: 80,732,045	V220E	possibly damaging	Het
Grik4	G	A	9: 42,521,122	H860Y	probably benign	Het
Gtpbp1	A	C	15: 79,707,729	S93R	probably damaging	Het
Gucy2g	C	A	19: 55,215,036		probably benign	Het
Hist1h2ae	C	A	13: 23,571,047		probably benign	Het
Hmcn1	G	A	1: 150,609,700	R4384C	probably damaging	Het
Hspa12b	G	C	2: 131,145,192	A678P	probably damaging	Het
Igsf21	T	A	4: 140,028,124	N407Y	probably damaging	Het
Insig2	A	G	1: 121,307,156	Y174H	probably benign	Het
Itpr3	T	A	17: 27,118,372	M2413K	probably benign	Het
Kalrn	A	T	16: 34,174,487	I1322N	probably damaging	Het
Klk1b24	T	A	7: 44,191,466	M106K	possibly damaging	Het
Krt81	G	T	15: 101,460,317	Q352K	probably benign	Het
Lca5l	A	T	16: 96,159,859	S468T	possibly damaging	Het
Lvrn	T	C	18: 46,882,385		probably benign	Het
Mcpt1	T	A	14: 56,019,164		probably benign	Het
Med13l	T	C	5: 118,738,459	M900T	probably benign	Het
Med16	A	G	10: 79,907,478		probably benign	Het
Megf6	G	T	4: 154,177,121	V68L	probably benign	Het
Mep1a	T	C	17: 43,491,672	H154R	probably damaging	Het
Mrc2	A	T	11: 105,337,772	D659V	probably benign	Het
Mroh8	T	A	2: 157,221,304	E799V	probably damaging	Het
Mrpl21	A	G	19: 3,284,808	Y50C	possibly damaging	Het
Msl1	A	G	11: 98,803,982		probably benign	Het
Myo1a	C	A	10: 127,719,937	Q932K	probably benign	Het
Nav3	A	C	10: 109,720,044	S1675R	probably damaging	Het
Neurl2	A	G	2: 164,832,746	V232A	possibly damaging	Het
Nfatc1	T	A	18: 80,665,267		probably benign	Het
Odf3l2	A	T	10: 79,645,558		probably benign	Het
Olfr1362	C	T	13: 21,611,822	C49Y	probably benign	Het
Olfr175-ps1	T	A	16: 58,824,676	E11V	probably null	Het
P4hb	A	G	11: 120,562,555		probably benign	Het
Papss1	T	G	3: 131,605,854	I281S	probably damaging	Het
Pde10a	A	T	17: 8,964,708	D832V	probably damaging	Het
Pfkfb2	A	T	1: 130,708,190	Y35N	possibly damaging	Het
Phf20l1	T	A	15: 66,604,813	F253Y	probably damaging	Het
Pkhd1l1	G	A	15: 44,516,115	V1046I	probably benign	Het
Plin3	C	T	17: 56,284,337	A148T	probably benign	Het
Ppp1r8	T	C	4: 132,840,631		probably benign	Het
Ppp2r3a	A	G	9: 101,211,312	L604P	probably damaging	Het
Prdm5	T	C	6: 65,883,601	V239A	probably damaging	Het
Prickle1	A	G	15: 93,500,638	S770P	probably damaging	Het
Prl2c5	T	A	13: 13,190,725	I155N	probably benign	Het
Psg25	C	T	7: 18,529,587	G104R	probably damaging	Het
Rbm19	T	C	5: 120,144,029	V817A	probably benign	Het
Ryr2	T	A	13: 11,727,022	Y2091F	probably damaging	Het
Slc16a4	A	G	3: 107,300,932	T253A	probably benign	Het
Smg7	A	T	1: 152,855,843		probably null	Het
Spink5	C	A	18: 44,007,719	H662N	probably benign	Het
Taf2	A	T	15: 55,059,915	M322K	probably damaging	Het
Tmc2	T	C	2: 130,248,762	F676S	probably damaging	Het
Tmem177	A	G	1: 119,910,185	S255P	possibly damaging	Het
Trim46	A	T	3: 89,235,068		probably null	Het
Tubb1	T	A	2: 174,450,803		probably null	Het
Upf1	T	C	8: 70,344,254	T110A	probably benign	Het
Vmn2r9	T	A	5: 108,848,984	I140L	probably benign	Het
Zfp638	T	A	6: 83,944,656	H588Q	probably damaging	Het
Zfp780b	T	A	7: 27,964,827	N101I	probably 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
IGL02357: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
R1018:Prom1	UTSW	5	44029714	missense	probably benign	0.02
R1456:Prom1	UTSW	5	44037623	missense	probably damaging	0.96
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	unclassified	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
Z1177:Prom1	UTSW	5	44014838	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GTTGTAAGCCCCAGAAGAGCCC -3'
(R):5'- GCTGAAAAGCCTTTGAGTTGATCTCTGA -3'

Sequencing Primer
(F):5'- ACCCAGTGATACCTTTACCATATAG -3'
(R):5'- GGGGTATACGACAATTGATGAAATA -3'

Posted On

2014-03-14