Incidental Mutation 'IGL00507:Stard8'
| ID |
5641 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Stard8
|
| Ensembl Gene |
ENSMUSG00000031216 |
| Gene Name |
StAR related lipid transfer domain containing 8 |
| Synonyms |
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL00507
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
X |
| Chromosomal Location |
98046854-98118334 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 98112941 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Lysine
at position 649
(E649K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000044491
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000036606]
[ENSMUST00000149999]
|
| AlphaFold |
Q8K031 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000036606
AA Change: E649K
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000044491
Gene: ENSMUSG00000031216
AA Change: E649K
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
44 |
65 |
N/A |
INTRINSIC |
|
low complexity region
|
72 |
90 |
N/A |
INTRINSIC |
|
low complexity region
|
288 |
299 |
N/A |
INTRINSIC |
|
coiled coil region
|
334 |
372 |
N/A |
INTRINSIC |
|
low complexity region
|
396 |
417 |
N/A |
INTRINSIC |
|
low complexity region
|
457 |
464 |
N/A |
INTRINSIC |
|
RhoGAP
|
579 |
770 |
1.97e-56 |
SMART |
|
START
|
814 |
1016 |
2.13e-69 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000127361
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000145820
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000149999
|
| 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 member of a subfamily of Rho GTPase activating proteins that contain a steroidogenic acute regulatory protein related lipid transfer domain. The encoded protein localizes to focal adhesions and may be involved in regulating cell morphology. This protein may also function as a tumor suppressor. [provided by RefSeq, Mar 2010]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 29 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acsbg1 |
C |
T |
9: 54,529,712 (GRCm39) |
|
probably benign |
Het |
| Adgrb3 |
T |
A |
1: 25,113,796 (GRCm39) |
R1450S |
possibly damaging |
Het |
| Apc |
A |
G |
18: 34,449,979 (GRCm39) |
I2258V |
probably benign |
Het |
| Atxn2l |
C |
A |
7: 126,095,756 (GRCm39) |
A374S |
possibly damaging |
Het |
| Cacna1a |
T |
A |
8: 85,297,837 (GRCm39) |
Y1182* |
probably null |
Het |
| Cc2d1b |
G |
T |
4: 108,486,927 (GRCm39) |
A647S |
probably damaging |
Het |
| Csn2 |
A |
G |
5: 87,842,632 (GRCm39) |
S116P |
probably benign |
Het |
| Eya4 |
G |
A |
10: 23,033,434 (GRCm39) |
Q163* |
probably null |
Het |
| Fam47c |
A |
T |
X: 77,781,931 (GRCm39) |
D171V |
probably benign |
Het |
| Fhdc1 |
A |
T |
3: 84,356,107 (GRCm39) |
C446S |
probably damaging |
Het |
| Fkbp9 |
T |
A |
6: 56,827,686 (GRCm39) |
V169E |
probably damaging |
Het |
| Fras1 |
A |
T |
5: 96,926,048 (GRCm39) |
I3751F |
probably damaging |
Het |
| Gkn1 |
T |
C |
6: 87,323,321 (GRCm39) |
Y164C |
probably damaging |
Het |
| Hs3st5 |
T |
C |
10: 36,708,918 (GRCm39) |
I151T |
probably benign |
Het |
| Ighv8-6 |
A |
T |
12: 115,129,472 (GRCm39) |
S95T |
probably damaging |
Het |
| Loxhd1 |
A |
G |
18: 77,420,263 (GRCm39) |
I296V |
probably benign |
Het |
| Lrrc66 |
T |
C |
5: 73,764,457 (GRCm39) |
E862G |
probably benign |
Het |
| Ltbp3 |
T |
C |
19: 5,806,044 (GRCm39) |
V934A |
probably damaging |
Het |
| Mpp3 |
A |
T |
11: 101,892,929 (GRCm39) |
I501K |
possibly damaging |
Het |
| Mroh2b |
C |
T |
15: 4,991,609 (GRCm39) |
T1569I |
probably damaging |
Het |
| Nup133 |
A |
T |
8: 124,645,706 (GRCm39) |
Y626* |
probably null |
Het |
| Pak3 |
T |
A |
X: 142,572,329 (GRCm39) |
N477K |
probably damaging |
Het |
| Plod3 |
A |
G |
5: 137,025,030 (GRCm39) |
H714R |
possibly damaging |
Het |
| Ppil1 |
T |
C |
17: 29,470,675 (GRCm39) |
N102S |
probably damaging |
Het |
| Rapgef6 |
A |
T |
11: 54,554,935 (GRCm39) |
R996* |
probably null |
Het |
| Scd3 |
G |
A |
19: 44,224,273 (GRCm39) |
D169N |
probably damaging |
Het |
| Sgo2a |
T |
A |
1: 58,055,753 (GRCm39) |
F646I |
probably damaging |
Het |
| Slc5a8 |
A |
G |
10: 88,743,902 (GRCm39) |
Y346C |
possibly damaging |
Het |
| Slc7a15 |
A |
T |
12: 8,585,474 (GRCm39) |
V49E |
probably damaging |
Het |
|
| Other mutations in Stard8 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01063:Stard8
|
APN |
X |
98,116,694 (GRCm39) |
missense |
probably damaging |
1.00 |
|
FR4304:Stard8
|
UTSW |
X |
98,110,111 (GRCm39) |
unclassified |
probably benign |
|
|
FR4976:Stard8
|
UTSW |
X |
98,110,131 (GRCm39) |
unclassified |
probably benign |
|
|
FR4976:Stard8
|
UTSW |
X |
98,110,119 (GRCm39) |
unclassified |
probably benign |
|
|
R4198:Stard8
|
UTSW |
X |
98,110,114 (GRCm39) |
unclassified |
probably benign |
|
|
R4641:Stard8
|
UTSW |
X |
98,110,114 (GRCm39) |
unclassified |
probably benign |
|
|
R8246:Stard8
|
UTSW |
X |
98,109,570 (GRCm39) |
missense |
probably benign |
|
|
R8247:Stard8
|
UTSW |
X |
98,109,570 (GRCm39) |
missense |
probably benign |
|
|
RF002:Stard8
|
UTSW |
X |
98,110,121 (GRCm39) |
nonsense |
probably null |
|
|
RF010:Stard8
|
UTSW |
X |
98,110,123 (GRCm39) |
unclassified |
probably benign |
|
|
RF043:Stard8
|
UTSW |
X |
98,110,133 (GRCm39) |
unclassified |
probably benign |
|
|
RF043:Stard8
|
UTSW |
X |
98,110,126 (GRCm39) |
unclassified |
probably benign |
|
|
RF051:Stard8
|
UTSW |
X |
98,110,130 (GRCm39) |
unclassified |
probably benign |
|
|
RF055:Stard8
|
UTSW |
X |
98,110,126 (GRCm39) |
unclassified |
probably benign |
|
|
RF063:Stard8
|
UTSW |
X |
98,110,130 (GRCm39) |
nonsense |
probably null |
|
|
RF064:Stard8
|
UTSW |
X |
98,110,133 (GRCm39) |
nonsense |
probably null |
|
|
X0004:Stard8
|
UTSW |
X |
98,110,289 (GRCm39) |
missense |
possibly damaging |
0.58 |
|
| Posted On |
2012-04-20 |
Incidental Mutation