Incidental Mutation 'IGL03149:Prom1'
ID 411006
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: 0.326) question?
Stock # IGL03149
Quality Score
Status
Chromosome 5
Chromosomal Location 44150962-44259374 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 44187076 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Phenylalanine at position 385 (I385F)
Ref Sequence ENSEMBL: ENSMUSP00000142375 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000030973] [ENSMUST00000074113] [ENSMUST00000087441] [ENSMUST00000087442] [ENSMUST00000165909] [ENSMUST00000171543] [ENSMUST00000177946] [ENSMUST00000179059] [ENSMUST00000197750] [ENSMUST00000197706]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000030973
AA Change: I360F

PolyPhen 2 Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000030973
Gene: ENSMUSG00000029086
AA Change: I360F

DomainStartEndE-ValueType
Pfam:Prominin 11 326 1.5e-113 PFAM
Pfam:Prominin 322 798 4.6e-188 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000074113
AA Change: I394F

PolyPhen 2 Score 0.909 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000073751
Gene: ENSMUSG00000029086
AA Change: I394F

DomainStartEndE-ValueType
low complexity region 8 13 N/A INTRINSIC
Pfam:Prominin 18 822 2e-294 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000087441
AA Change: I385F

PolyPhen 2 Score 0.849 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000084707
Gene: ENSMUSG00000029086
AA Change: I385F

DomainStartEndE-ValueType
Pfam:Prominin 11 823 N/A PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000087442
AA Change: I385F

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000084709
Gene: ENSMUSG00000029086
AA Change: I385F

DomainStartEndE-ValueType
Pfam:Prominin 11 823 N/A PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000165909
AA Change: I385F

PolyPhen 2 Score 0.909 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000129909
Gene: ENSMUSG00000029086
AA Change: I385F

DomainStartEndE-ValueType
Pfam:Prominin 11 823 N/A PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000171543
AA Change: I394F

PolyPhen 2 Score 0.909 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000128978
Gene: ENSMUSG00000029086
AA Change: I394F

DomainStartEndE-ValueType
Pfam:Prominin 11 838 N/A PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000177946
AA Change: I385F

PolyPhen 2 Score 0.909 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000136483
Gene: ENSMUSG00000029086
AA Change: I385F

DomainStartEndE-ValueType
Pfam:Prominin 11 823 N/A PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000179059
AA Change: I394F

PolyPhen 2 Score 0.909 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000137557
Gene: ENSMUSG00000029086
AA Change: I394F

DomainStartEndE-ValueType
Pfam:Prominin 11 838 N/A PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000197750
AA Change: I385F

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000142375
Gene: ENSMUSG00000029086
AA Change: I385F

DomainStartEndE-ValueType
Pfam:Prominin 11 823 N/A PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000197706
AA Change: I355F

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000142632
Gene: ENSMUSG00000029086
AA Change: I355F

DomainStartEndE-ValueType
Pfam:Prominin 11 321 6.6e-110 PFAM
Pfam:Prominin 317 793 6.8e-188 PFAM
Predicted Effect silent
Transcript: ENSMUST00000198347
Predicted Effect noncoding transcript
Transcript: ENSMUST00000199739
Predicted Effect noncoding transcript
Transcript: ENSMUST00000196853
Predicted Effect noncoding transcript
Transcript: ENSMUST00000197749
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: 56 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Arhgap10 A G 8: 78,136,167 (GRCm39) probably benign Het
Arhgap42 A G 9: 9,008,085 (GRCm39) I546T possibly damaging Het
Arsj A T 3: 126,233,053 (GRCm39) probably benign Het
Ash2l A G 8: 26,308,650 (GRCm39) V543A probably benign Het
B4galnt3 A G 6: 120,208,555 (GRCm39) probably benign Het
Blvra T A 2: 126,924,871 (GRCm39) V11E probably damaging Het
Calcb T C 7: 114,319,371 (GRCm39) L51P probably damaging Het
Cd36 T A 5: 18,025,563 (GRCm39) K52N probably benign Het
Cebpz T C 17: 79,229,982 (GRCm39) N857S probably benign Het
Ces1b A G 8: 93,791,502 (GRCm39) probably benign Het
Clspn T C 4: 126,470,295 (GRCm39) probably benign Het
Cr2 A T 1: 194,848,674 (GRCm39) L283H probably damaging Het
Ctc1 T C 11: 68,921,987 (GRCm39) V811A possibly damaging Het
Ctsk T C 3: 95,408,730 (GRCm39) S65P possibly damaging Het
Ddx51 A G 5: 110,801,600 (GRCm39) N83D probably benign Het
Eci2 T C 13: 35,172,296 (GRCm39) T146A probably benign Het
Erbin T C 13: 103,977,671 (GRCm39) N629D possibly damaging Het
Etfbkmt A G 6: 149,045,781 (GRCm39) E45G probably damaging Het
Fat4 A G 3: 39,045,834 (GRCm39) N3951S probably damaging Het
Fktn T C 4: 53,744,653 (GRCm39) V311A probably benign Het
Garem1 G T 18: 21,264,523 (GRCm39) P534T probably damaging Het
Gm8237 A G 14: 5,864,451 (GRCm38) I37T probably benign Het
Ikzf5 T C 7: 130,998,494 (GRCm39) K13E probably damaging Het
Kl T A 5: 150,906,200 (GRCm39) C523* probably null Het
Klhl7 G A 5: 24,364,687 (GRCm39) V574I probably benign Het
Lyst T C 13: 13,856,029 (GRCm39) V2450A probably benign Het
Map3k6 A T 4: 132,976,999 (GRCm39) I819F probably damaging Het
Mphosph9 T C 5: 124,401,074 (GRCm39) E891G probably damaging Het
Myo7b A G 18: 32,147,355 (GRCm39) S63P probably damaging Het
Ndufaf7 C T 17: 79,252,439 (GRCm39) R283C possibly damaging Het
Nepro G T 16: 44,547,462 (GRCm39) A60S probably damaging Het
Nop56 T C 2: 130,119,445 (GRCm39) S354P probably damaging Het
Nwd2 T A 5: 63,963,338 (GRCm39) L974H probably damaging Het
Or4a80 T C 2: 89,583,172 (GRCm39) probably null Het
Or52ad1 A T 7: 102,996,056 (GRCm39) H26Q probably benign Het
Pacsin3 T A 2: 91,091,852 (GRCm39) probably benign Het
Parp12 C T 6: 39,091,165 (GRCm39) D142N probably benign Het
Pcdh15 G A 10: 74,466,527 (GRCm39) D1449N probably damaging Het
Pcsk7 C T 9: 45,820,778 (GRCm39) T70M probably benign Het
Pld4 T C 12: 112,733,263 (GRCm39) F280L probably benign Het
Ppm1k C A 6: 57,501,759 (GRCm39) A135S probably damaging Het
Prkcq A T 2: 11,237,356 (GRCm39) Y45F probably benign Het
Prss12 A G 3: 123,299,036 (GRCm39) N603D probably benign Het
Ptbp2 G T 3: 119,514,074 (GRCm39) T501K possibly damaging Het
Ranbp17 C A 11: 33,193,183 (GRCm39) R957L possibly damaging Het
Rasl10a T C 11: 5,008,429 (GRCm39) Y42H possibly damaging Het
Serpina9 G A 12: 103,974,869 (GRCm39) Q95* probably null Het
Serpinb1b C A 13: 33,269,275 (GRCm39) Q3K possibly damaging Het
Sgo2b T A 8: 64,379,617 (GRCm39) M1072L probably benign Het
Slc1a5 T C 7: 16,523,745 (GRCm39) V250A probably damaging Het
Slc30a6 T C 17: 74,730,018 (GRCm39) S303P probably damaging Het
Tbc1d2 A T 4: 46,637,619 (GRCm39) I209N probably benign Het
Tmc4 T A 7: 3,670,177 (GRCm39) I484L probably benign Het
Ttll5 G A 12: 85,965,758 (GRCm39) E36K probably damaging Het
Unc93b1 A G 19: 3,994,041 (GRCm39) M391V probably benign Het
Xpo5 T A 17: 46,526,740 (GRCm39) probably null Het
Other mutations in Prom1
AlleleSourceChrCoordTypePredicted EffectPPH 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
IGL03072:Prom1 APN 5 44,216,004 (GRCm39) intron probably benign
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