Incidental Mutation 'IGL03080:Stard3nl'
| ID |
417838 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Stard3nl
|
| Ensembl Gene |
ENSMUSG00000003062 |
| Gene Name |
STARD3 N-terminal like |
| Synonyms |
0610035N01Rik, 6530409L22Rik |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.096)
|
| Stock # |
IGL03080
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
13 |
| Chromosomal Location |
19541846-19579965 bp(-) (GRCm39) |
| Type of Mutation |
critical splice donor site (2 bp from exon) |
| DNA Base Change (assembly) |
A to T
at 19554648 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000152373
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000039694]
[ENSMUST00000197565]
[ENSMUST00000200323]
[ENSMUST00000221380]
[ENSMUST00000222869]
|
| AlphaFold |
Q9DCI3 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000039694
|
| SMART Domains |
Protein: ENSMUSP00000037991
Gene: ENSMUSG00000003062
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:MENTAL
|
49 |
214 |
2.6e-67 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000196268
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000196712
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000197565
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000199278
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000200323
|
| SMART Domains |
Protein: ENSMUSP00000142680
Gene: ENSMUSG00000003062
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:MENTAL
|
49 |
216 |
2e-73 |
PFAM |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000221380
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000222869
|
| 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 late-endosomal protein that contains a conserved MENTAL (MLN64 N-terminal) domain. The encoded protein binds cholesterol molecules and may play a role in endosomal cholesterol transport through interactions with metastatic lymph node protein 64 (MLN64). [provided by RefSeq, Sep 2011]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 38 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abce1 |
T |
C |
8: 80,429,630 (GRCm39) |
|
probably null |
Het |
| Adgrf3 |
T |
C |
5: 30,401,827 (GRCm39) |
M734V |
probably benign |
Het |
| Aqp8 |
T |
G |
7: 123,065,802 (GRCm39) |
|
probably benign |
Het |
| Ces1d |
C |
A |
8: 93,896,346 (GRCm39) |
|
probably null |
Het |
| Cntn4 |
A |
G |
6: 106,632,500 (GRCm39) |
D508G |
probably damaging |
Het |
| Cyp11b1 |
A |
T |
15: 74,711,285 (GRCm39) |
|
probably null |
Het |
| Dnah8 |
A |
G |
17: 30,937,980 (GRCm39) |
D1619G |
probably benign |
Het |
| Eif1ad17 |
A |
T |
12: 87,978,615 (GRCm39) |
|
probably benign |
Het |
| Ephb4 |
T |
A |
5: 137,352,345 (GRCm39) |
|
probably benign |
Het |
| Ffar3 |
A |
T |
7: 30,554,747 (GRCm39) |
V191E |
probably damaging |
Het |
| Galnt1 |
T |
A |
18: 24,402,574 (GRCm39) |
D310E |
probably damaging |
Het |
| Igf2r |
T |
C |
17: 12,945,563 (GRCm39) |
Y342C |
probably benign |
Het |
| Jade1 |
T |
A |
3: 41,554,510 (GRCm39) |
C251* |
probably null |
Het |
| Jhy |
T |
C |
9: 40,855,653 (GRCm39) |
E278G |
probably damaging |
Het |
| Kif24 |
A |
C |
4: 41,394,417 (GRCm39) |
S819A |
probably benign |
Het |
| Lrp8 |
T |
C |
4: 107,712,996 (GRCm39) |
L344P |
probably damaging |
Het |
| Lrrc27 |
A |
G |
7: 138,810,153 (GRCm39) |
T375A |
probably benign |
Het |
| Mbd3 |
C |
T |
10: 80,229,085 (GRCm39) |
R204Q |
probably damaging |
Het |
| Nab2 |
T |
C |
10: 127,500,663 (GRCm39) |
N143S |
possibly damaging |
Het |
| Nkiras2 |
T |
C |
11: 100,515,105 (GRCm39) |
|
probably null |
Het |
| Or7e174 |
A |
T |
9: 20,012,705 (GRCm39) |
I217F |
probably damaging |
Het |
| Palm |
C |
A |
10: 79,654,951 (GRCm39) |
H74Q |
probably damaging |
Het |
| Pros1 |
T |
A |
16: 62,738,506 (GRCm39) |
N408K |
probably damaging |
Het |
| Psg23 |
T |
A |
7: 18,340,910 (GRCm39) |
Y448F |
probably damaging |
Het |
| Ranbp2 |
C |
A |
10: 58,312,613 (GRCm39) |
P1111Q |
probably benign |
Het |
| Rims2 |
A |
G |
15: 39,399,299 (GRCm39) |
S1115G |
probably damaging |
Het |
| Scn7a |
T |
C |
2: 66,528,160 (GRCm39) |
T777A |
probably benign |
Het |
| Spata31h1 |
T |
C |
10: 82,119,816 (GRCm39) |
D428G |
probably damaging |
Het |
| Sult1d1 |
T |
C |
5: 87,704,847 (GRCm39) |
D214G |
probably benign |
Het |
| Tmprss12 |
T |
C |
15: 100,190,529 (GRCm39) |
W300R |
probably damaging |
Het |
| Tmprss2 |
T |
C |
16: 97,398,044 (GRCm39) |
Y44C |
probably damaging |
Het |
| Ttk |
A |
G |
9: 83,725,136 (GRCm39) |
N154D |
probably damaging |
Het |
| Tut4 |
T |
A |
4: 108,363,021 (GRCm39) |
S444R |
probably damaging |
Het |
| Tyw1 |
T |
C |
5: 130,295,896 (GRCm39) |
Y108H |
probably damaging |
Het |
| Vmn2r44 |
C |
A |
7: 8,386,244 (GRCm39) |
|
probably benign |
Het |
| Zfand1 |
A |
G |
3: 10,405,797 (GRCm39) |
*269Q |
probably null |
Het |
| Zfp142 |
A |
T |
1: 74,610,368 (GRCm39) |
D1039E |
probably benign |
Het |
| Zkscan5 |
G |
T |
5: 145,155,460 (GRCm39) |
S377I |
probably damaging |
Het |
|
| Other mutations in Stard3nl |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01907:Stard3nl
|
APN |
13 |
19,556,759 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0838:Stard3nl
|
UTSW |
13 |
19,556,756 (GRCm39) |
critical splice donor site |
probably null |
|
|
R1436:Stard3nl
|
UTSW |
13 |
19,556,819 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1625:Stard3nl
|
UTSW |
13 |
19,556,754 (GRCm39) |
splice site |
probably null |
|
|
R4360:Stard3nl
|
UTSW |
13 |
19,554,654 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4599:Stard3nl
|
UTSW |
13 |
19,551,923 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4609:Stard3nl
|
UTSW |
13 |
19,554,434 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R4667:Stard3nl
|
UTSW |
13 |
19,560,689 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4668:Stard3nl
|
UTSW |
13 |
19,560,689 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4669:Stard3nl
|
UTSW |
13 |
19,560,689 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4740:Stard3nl
|
UTSW |
13 |
19,560,736 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4740:Stard3nl
|
UTSW |
13 |
19,551,948 (GRCm39) |
missense |
probably benign |
0.34 |
|
R7633:Stard3nl
|
UTSW |
13 |
19,552,008 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7673:Stard3nl
|
UTSW |
13 |
19,551,923 (GRCm39) |
missense |
probably benign |
0.32 |
|
R8080:Stard3nl
|
UTSW |
13 |
19,554,521 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8268:Stard3nl
|
UTSW |
13 |
19,560,629 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9163:Stard3nl
|
UTSW |
13 |
19,560,809 (GRCm39) |
start gained |
probably benign |
|
|
| Posted On |
2016-08-02 |
Incidental Mutation