Incidental Mutation 'R7244:Prom1'
| ID |
563405 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Prom1
|
| Ensembl Gene |
ENSMUSG00000029086 |
| Gene Name |
prominin 1 |
| Synonyms |
Prom-1, 4932416E19Rik, Prom, AC133, CD133 |
| MMRRC Submission |
045308-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.326)
|
| Stock # |
R7244 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
44150962-44259374 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 44178242 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Leucine
at position 497
(I497L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000073751
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000030973]
[ENSMUST00000074113]
[ENSMUST00000087441]
[ENSMUST00000087442]
[ENSMUST00000165909]
[ENSMUST00000171543]
[ENSMUST00000177946]
[ENSMUST00000179059]
[ENSMUST00000197706]
[ENSMUST00000197750]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000030973
AA Change: I463L
PolyPhen 2
Score 0.119 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000030973
Gene: ENSMUSG00000029086
AA Change: I463L
| 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
AA Change: I497L
PolyPhen 2
Score 0.031 (Sensitivity: 0.95; Specificity: 0.82)
|
| SMART Domains |
Protein: ENSMUSP00000073751
Gene: ENSMUSG00000029086
AA Change: I497L
| 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
AA Change: I488L
PolyPhen 2
Score 0.031 (Sensitivity: 0.95; Specificity: 0.82)
|
| SMART Domains |
Protein: ENSMUSP00000084707
Gene: ENSMUSG00000029086
AA Change: I488L
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Prominin
|
11 |
823 |
N/A |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000087442
AA Change: I488L
PolyPhen 2
Score 0.061 (Sensitivity: 0.94; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000084709
Gene: ENSMUSG00000029086
AA Change: I488L
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Prominin
|
11 |
823 |
N/A |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000165909
AA Change: I488L
PolyPhen 2
Score 0.061 (Sensitivity: 0.94; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000129909
Gene: ENSMUSG00000029086
AA Change: I488L
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Prominin
|
11 |
823 |
N/A |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000171543
AA Change: I497L
PolyPhen 2
Score 0.061 (Sensitivity: 0.94; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000128978
Gene: ENSMUSG00000029086
AA Change: I497L
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Prominin
|
11 |
838 |
N/A |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000177946
AA Change: I488L
PolyPhen 2
Score 0.061 (Sensitivity: 0.94; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000136483
Gene: ENSMUSG00000029086
AA Change: I488L
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Prominin
|
11 |
823 |
N/A |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000179059
AA Change: I497L
PolyPhen 2
Score 0.061 (Sensitivity: 0.94; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000137557
Gene: ENSMUSG00000029086
AA Change: I497L
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Prominin
|
11 |
838 |
N/A |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000197706
AA Change: I458L
PolyPhen 2
Score 0.061 (Sensitivity: 0.94; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000142632
Gene: ENSMUSG00000029086
AA Change: I458L
| 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: ENSMUST00000197750
AA Change: I488L
PolyPhen 2
Score 0.061 (Sensitivity: 0.94; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000142375
Gene: ENSMUSG00000029086
AA Change: I488L
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Prominin
|
11 |
823 |
N/A |
PFAM |
|
| Meta Mutation Damage Score |
0.0824 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 98.9%
|
| Validation Efficiency |
96% (45/47) |
| 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: 46 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgrb3 |
A |
G |
1: 25,170,350 (GRCm39) |
F983L |
probably damaging |
Het |
| Cc2d1b |
T |
A |
4: 108,486,799 (GRCm39) |
M632K |
probably benign |
Het |
| Cdyl2 |
G |
A |
8: 117,301,999 (GRCm39) |
R461* |
probably null |
Het |
| Cfap57 |
G |
A |
4: 118,411,997 (GRCm39) |
Q1216* |
probably null |
Het |
| Chd1l |
A |
T |
3: 97,505,066 (GRCm39) |
V167E |
probably damaging |
Het |
| Col6a1 |
C |
A |
10: 76,553,242 (GRCm39) |
G391* |
probably null |
Het |
| Ctsc |
C |
A |
7: 87,951,430 (GRCm39) |
Q226K |
probably benign |
Het |
| Cyp2c54 |
A |
G |
19: 40,035,953 (GRCm39) |
V319A |
probably damaging |
Het |
| Dnah7b |
T |
C |
1: 46,316,303 (GRCm39) |
S3139P |
probably damaging |
Het |
| Edrf1 |
T |
C |
7: 133,256,079 (GRCm39) |
S643P |
probably benign |
Het |
| Fam186a |
A |
T |
15: 99,844,273 (GRCm39) |
V657D |
unknown |
Het |
| Fkbp11 |
A |
G |
15: 98,626,073 (GRCm39) |
|
probably benign |
Het |
| Fsip2 |
G |
A |
2: 82,823,607 (GRCm39) |
A6447T |
possibly damaging |
Het |
| H2-T9 |
C |
A |
17: 36,438,496 (GRCm39) |
|
probably null |
Het |
| Hydin |
A |
G |
8: 111,276,307 (GRCm39) |
D3017G |
probably damaging |
Het |
| Ifi205 |
G |
A |
1: 173,845,210 (GRCm39) |
Q191* |
probably null |
Het |
| Mbd4 |
C |
T |
6: 115,821,564 (GRCm39) |
D484N |
probably benign |
Het |
| Med24 |
C |
T |
11: 98,605,223 (GRCm39) |
|
probably null |
Het |
| Mis18bp1 |
T |
C |
12: 65,208,404 (GRCm39) |
N103S |
probably damaging |
Het |
| Mmd2 |
T |
C |
5: 142,550,587 (GRCm39) |
H217R |
probably damaging |
Het |
| Mn1 |
C |
T |
5: 111,566,699 (GRCm39) |
T223M |
possibly damaging |
Het |
| Ms4a4a |
A |
G |
19: 11,358,794 (GRCm39) |
Y84C |
probably damaging |
Het |
| Mup5 |
A |
T |
4: 61,749,818 (GRCm39) |
|
probably null |
Het |
| Mybl2 |
C |
T |
2: 162,924,605 (GRCm39) |
P658S |
probably benign |
Het |
| Mycbp2 |
C |
A |
14: 103,446,345 (GRCm39) |
V1828L |
probably damaging |
Het |
| Myh15 |
T |
C |
16: 49,017,149 (GRCm39) |
Y1887H |
probably damaging |
Het |
| Nadk2 |
A |
G |
15: 9,083,271 (GRCm39) |
|
probably null |
Het |
| Nsd3 |
A |
G |
8: 26,156,055 (GRCm39) |
N541D |
probably damaging |
Het |
| Or52e8b |
A |
G |
7: 104,674,148 (GRCm39) |
V13A |
probably benign |
Het |
| Or52i2 |
G |
T |
7: 102,319,046 (GRCm39) |
|
probably benign |
Het |
| Oxa1l |
A |
T |
14: 54,598,312 (GRCm39) |
M1L |
probably benign |
Het |
| Pcdha11 |
A |
T |
18: 37,144,421 (GRCm39) |
R171* |
probably null |
Het |
| Pkd1l1 |
A |
T |
11: 8,821,771 (GRCm39) |
V1641E |
|
Het |
| Pramel28 |
A |
T |
4: 143,692,455 (GRCm39) |
M182K |
probably benign |
Het |
| Rasgef1b |
T |
C |
5: 99,706,753 (GRCm39) |
K41E |
possibly damaging |
Het |
| Rasgrf1 |
T |
C |
9: 89,876,810 (GRCm39) |
F725S |
probably damaging |
Het |
| Ryr2 |
T |
A |
13: 11,612,032 (GRCm39) |
S3962C |
probably damaging |
Het |
| Sema5b |
A |
T |
16: 35,480,915 (GRCm39) |
T829S |
probably benign |
Het |
| Tdp2 |
A |
G |
13: 25,025,284 (GRCm39) |
D351G |
probably benign |
Het |
| Tet3 |
A |
T |
6: 83,347,603 (GRCm39) |
D1130E |
probably damaging |
Het |
| Tg |
T |
C |
15: 66,612,563 (GRCm39) |
C1993R |
probably damaging |
Het |
| Tll1 |
T |
C |
8: 64,478,222 (GRCm39) |
I844V |
probably benign |
Het |
| Ttll13 |
A |
C |
7: 79,903,911 (GRCm39) |
K280Q |
probably damaging |
Het |
| Vmn2r109 |
A |
G |
17: 20,760,945 (GRCm39) |
V804A |
possibly damaging |
Het |
| Vps13c |
T |
C |
9: 67,797,086 (GRCm39) |
V491A |
probably benign |
Het |
| Xpo5 |
G |
T |
17: 46,525,551 (GRCm39) |
G233C |
probably 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 |
|
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 |
|
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- TTTCAACTTGTTGAGTGAGAGC -3'
(R):5'- GGTGACGCAACACTCTAAATGTTC -3'
Sequencing Primer
(F):5'- CAACTTGTTGAGTGAGAGCAAAATAG -3'
(R):5'- CGCAACACTCTAAATGTTCTATAAGC -3'
|
| Posted On |
2019-06-26 |
Incidental Mutation