Mutagenetix > Incidental Mutation

Incidental Mutation 'R7339:Prom1'

569696

Institutional Source

Beutler Lab

Gene Symbol

Prom1

Ensembl Gene

ENSMUSG00000029086

Gene Name

prominin 1

Synonyms

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

MMRRC Submission

Accession Numbers

Is this an essential gene?

Possibly non essential (E-score: 0.292) question?

Stock #

R7339 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

43993620-44102032 bp(-) (GRCm38)

Type of Mutation

unclassified

DNA Base Change (assembly)

C to A at 44101653 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000142375 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000074113] [ENSMUST00000087441] [ENSMUST00000165909] [ENSMUST00000171543] [ENSMUST00000196178] [ENSMUST00000197750]

AlphaFold

no structure available at present

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: 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: 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

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.1%

Validation Efficiency

100% (61/61)

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: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2610507B11Rik	G	A	11: 78,272,384		probably null	Het
2900026A02Rik	T	C	5: 113,183,072	D1092G	probably benign	Het
9030624J02Rik	A	T	7: 118,809,971	I612F	probably damaging	Het
Abcb11	C	T	2: 69,299,867	D282N	probably damaging	Het
Ahnak	A	T	19: 9,008,165	N2271I	possibly damaging	Het
Amz1	A	G	5: 140,741,551	S90G	probably benign	Het
Arhgap5	A	G	12: 52,517,698	E484G	possibly damaging	Het
Arid3c	A	G	4: 41,729,883		probably null	Het
Atp1a1	T	C	3: 101,589,872	I373V	probably benign	Het
Barhl1	T	C	2: 28,909,887	E242G	probably damaging	Het
Cactin	CCGGAGTCGGAGTCGGAGTCGGAGTCGGAGTCGGAG	CCGGAGTCGGAGTCGGAGTCGGAGTCGGAGTCGGAGTCGGAG	10: 81,321,318		probably benign	Het
Casz1	T	A	4: 148,951,745	V1488E	probably damaging	Het
Ccdc175	C	A	12: 72,136,041	Q401H	probably damaging	Het
Cfap36	T	C	11: 29,225,925	Y191C	probably benign	Het
Chmp2b	G	A	16: 65,545,346	Q119*	probably null	Het
Cps1	T	A	1: 67,197,015	I969N	possibly damaging	Het
Dennd5a	A	G	7: 109,901,159	F920L	probably damaging	Het
Dnah12	A	T	14: 26,872,320	T3410S	probably benign	Het
Fbxo42	T	G	4: 141,200,144	S578R	possibly damaging	Het
Fcgr1	C	T	3: 96,284,299	G398R	not run	Het
Foxa3	A	T	7: 19,014,869	Y111N	probably damaging	Het
Gabbr2	T	C	4: 46,846,340	K190E	probably benign	Het
Gbp10	T	C	5: 105,220,098	Y403C	possibly damaging	Het
Gm906	A	T	13: 50,247,168	I374N	possibly damaging	Het
Hsd3b5	A	G	3: 98,622,074	I80T	probably damaging	Het
Kri1	T	G	9: 21,286,587	Q89P		Het
Lrp6	G	T	6: 134,450,818	P1604T	probably damaging	Het
Metap1	T	C	3: 138,466,137		probably null	Het
Mkrn3	C	T	7: 62,419,782	R87H	probably benign	Het
Ms4a6d	G	A	19: 11,590,073	Q155*	probably null	Het
Myh6	T	C	14: 54,961,568		probably null	Het
Naip6	G	T	13: 100,316,019	P178Q	probably damaging	Het
Ncapg2	A	G	12: 116,414,834	E160G	probably damaging	Het
Nek6	G	A	2: 38,560,965	A127T	probably damaging	Het
Nell1	T	C	7: 50,279,549	V264A	probably benign	Het
Nlrp2	T	A	7: 5,327,628	I590F	possibly damaging	Het
Olfr1308	A	T	2: 111,960,611	M154K	probably benign	Het
Olfr1310	A	G	2: 112,008,475	L237P	probably damaging	Het
Olfr1390	G	A	11: 49,341,048	R172Q	not run	Het
Olfr503	A	C	7: 108,544,900	D125A	probably damaging	Het
Olfr71	C	T	4: 43,706,080	A163T	probably benign	Het
Otop3	T	A	11: 115,346,378	L556Q	probably damaging	Het
Padi1	T	C	4: 140,829,234	D190G	probably null	Het
Pald1	T	C	10: 61,323,331	S774G	possibly damaging	Het
Pde10a	C	T	17: 8,757,028	T55I	probably benign	Het
Pla2g4d	T	C	2: 120,278,978	M197V	probably benign	Het
Ptdss1	A	G	13: 66,963,362	H164R	possibly damaging	Het
Rrh	A	T	3: 129,810,613	I313N	probably damaging	Het
Slc35b4	A	G	6: 34,167,656	I88T	probably damaging	Het
Slc38a11	C	T	2: 65,326,570	V353I	probably benign	Het
Spdef	T	A	17: 27,720,245	E42D	probably benign	Het
Tgoln1	G	C	6: 72,616,278	T73R	probably benign	Het
Tmx1	A	G	12: 70,458,850	D129G	probably benign	Het
Trav13n-4	A	T	14: 53,363,978	Y68F	probably benign	Het
Trp53	T	C	11: 69,589,189	S238P	probably damaging	Het
Trp53bp1	T	C	2: 121,236,469	D592G	probably benign	Het
Ttll5	T	C	12: 85,857,464		probably null	Het
Urb1	CACTTAC	CAC	16: 90,772,573		probably benign	Het
Vmn2r43	A	T	7: 8,255,307	Y302*	probably null	Het
Vps13d	C	T	4: 145,121,368	V2478I		Het
Wsb1	A	G	11: 79,240,358	V404A	probably damaging	Het
Zfc3h1	A	G	10: 115,403,300	D539G	probably damaging	Het
Zfp318	T	C	17: 46,411,247	V1392A	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
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
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
R8529:Prom1	UTSW	5	44013027	splice site	probably null
R8670:Prom1	UTSW	5	44001844	missense	probably benign	0.00
R8835:Prom1	UTSW	5	44018380	missense	probably damaging	1.00
R8907:Prom1	UTSW	5	44001793	missense	probably damaging	1.00
R9017:Prom1	UTSW	5	44047528	missense	probably damaging	1.00
R9104:Prom1	UTSW	5	44014819	missense	probably benign	0.02
R9173:Prom1	UTSW	5	44063178	missense	possibly damaging	0.94
R9361:Prom1	UTSW	5	44055887	missense	probably damaging	0.99
R9519:Prom1	UTSW	5	44056061	missense	possibly damaging	0.61
R9574:Prom1	UTSW	5	44000837	missense	probably benign	0.01
R9604:Prom1	UTSW	5	44029733	missense	probably damaging	0.99
R9615:Prom1	UTSW	5	44007057	missense	probably damaging	1.00
R9680:Prom1	UTSW	5	44032942	critical splice donor site	probably null
Z1177:Prom1	UTSW	5	44014838	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GTTTGCACGCTCTATAACCAGTCC -3'
(R):5'- AACAGGTTCCCAGAGTCCTG -3'

Sequencing Primer
(F):5'- CGCTCTATAACCAGTCCTCCAG -3'
(R):5'- AGAGTCCTGGAGTCCCGTG -3'

Posted On

2019-09-13