Incidental Mutation 'IGL01088:Stard7'
| ID |
50469 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Stard7
|
| Ensembl Gene |
ENSMUSG00000027367 |
| Gene Name |
StAR related lipid transfer domain containing 7 |
| Synonyms |
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.949)
|
| Stock # |
IGL01088
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
2 |
| Chromosomal Location |
127112138-127140852 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 127112746 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Proline
at position 4
(L4P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000106003
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000110374]
[ENSMUST00000110375]
|
| AlphaFold |
Q8R1R3 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000110374
AA Change: L4P
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000106003
Gene: ENSMUSG00000027367
AA Change: L4P
| Domain | Start | End | E-Value | Type |
|---|
|
coiled coil region
|
11 |
39 |
N/A |
INTRINSIC |
|
Blast:START
|
46 |
121 |
4e-42 |
BLAST |
|
SCOP:d1ln1a_
|
57 |
108 |
7e-7 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000110375
AA Change: L82P
PolyPhen 2
Score 0.962 (Sensitivity: 0.78; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000106004
Gene: ENSMUSG00000027367
AA Change: L82P
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
8 |
27 |
N/A |
INTRINSIC |
|
low complexity region
|
60 |
73 |
N/A |
INTRINSIC |
|
coiled coil region
|
89 |
117 |
N/A |
INTRINSIC |
|
START
|
124 |
332 |
4.52e-9 |
SMART |
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000125049
AA Change: L41P
|
| SMART Domains |
Protein: ENSMUSP00000116374
Gene: ENSMUSG00000027367
AA Change: L41P
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
20 |
33 |
N/A |
INTRINSIC |
|
coiled coil region
|
48 |
76 |
N/A |
INTRINSIC |
|
Blast:START
|
86 |
129 |
1e-12 |
BLAST |
|
Pfam:START
|
204 |
367 |
3.3e-19 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000131196
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000192976
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000194123
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
PHENOTYPE: Heterozygous KO results in exaggerated allergic response (lung inflammation, increased epithelial barrier permeability and airway responsiveness) and atopic dermatitis. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 32 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Actr6 |
C |
T |
10: 89,561,703 (GRCm39) |
V148I |
probably damaging |
Het |
| Aspn |
G |
T |
13: 49,720,029 (GRCm39) |
K348N |
probably benign |
Het |
| C1qtnf9 |
T |
C |
14: 61,017,205 (GRCm39) |
V245A |
probably benign |
Het |
| Cfhr4 |
T |
C |
1: 139,625,823 (GRCm39) |
|
probably benign |
Het |
| Chd4 |
T |
C |
6: 125,099,431 (GRCm39) |
|
probably benign |
Het |
| Clcn3 |
A |
T |
8: 61,390,381 (GRCm39) |
C187S |
probably damaging |
Het |
| Dcxr |
T |
C |
11: 120,616,993 (GRCm39) |
I123M |
possibly damaging |
Het |
| Fstl1 |
T |
C |
16: 37,647,175 (GRCm39) |
Y182H |
probably damaging |
Het |
| Ghrhr |
T |
C |
6: 55,356,178 (GRCm39) |
|
probably null |
Het |
| Gpr179 |
T |
C |
11: 97,228,627 (GRCm39) |
E1176G |
probably damaging |
Het |
| H2-T22 |
A |
G |
17: 36,352,811 (GRCm39) |
S99P |
probably damaging |
Het |
| Igkv4-79 |
T |
A |
6: 69,020,110 (GRCm39) |
K68N |
probably damaging |
Het |
| Kpna6 |
C |
T |
4: 129,549,276 (GRCm39) |
V169I |
probably damaging |
Het |
| Krit1 |
G |
T |
5: 3,862,844 (GRCm39) |
V278F |
probably damaging |
Het |
| Mrpl4 |
T |
C |
9: 20,914,627 (GRCm39) |
S68P |
probably damaging |
Het |
| Mylk3 |
A |
C |
8: 86,078,586 (GRCm39) |
|
probably null |
Het |
| Nfasc |
A |
T |
1: 132,570,514 (GRCm39) |
|
probably benign |
Het |
| Ntsr1 |
T |
C |
2: 180,184,335 (GRCm39) |
F346S |
probably damaging |
Het |
| Or10ak11 |
A |
G |
4: 118,686,989 (GRCm39) |
V216A |
probably benign |
Het |
| Or5b107 |
T |
C |
19: 13,142,735 (GRCm39) |
M119T |
probably damaging |
Het |
| Phox2a |
T |
C |
7: 101,470,942 (GRCm39) |
F145L |
probably damaging |
Het |
| Rbm7 |
A |
G |
9: 48,402,149 (GRCm39) |
V146A |
probably damaging |
Het |
| Sall3 |
A |
T |
18: 81,016,447 (GRCm39) |
Y494N |
probably damaging |
Het |
| Ssbp1 |
T |
A |
6: 40,455,004 (GRCm39) |
|
probably benign |
Het |
| Stk-ps2 |
A |
T |
1: 46,069,010 (GRCm39) |
|
noncoding transcript |
Het |
| Tmem67 |
G |
A |
4: 12,063,126 (GRCm39) |
R507C |
probably damaging |
Het |
| Unc13c |
A |
T |
9: 73,839,563 (GRCm39) |
D429E |
possibly damaging |
Het |
| Unc93b1 |
A |
G |
19: 3,985,356 (GRCm39) |
|
probably null |
Het |
| Vmn1r171 |
T |
C |
7: 23,332,252 (GRCm39) |
V159A |
probably damaging |
Het |
| Zfp608 |
T |
C |
18: 55,031,159 (GRCm39) |
E927G |
probably benign |
Het |
| Zfp820 |
T |
A |
17: 22,040,162 (GRCm39) |
K16* |
probably null |
Het |
| Zgrf1 |
T |
C |
3: 127,381,790 (GRCm39) |
|
probably benign |
Het |
|
| Other mutations in Stard7 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02172:Stard7
|
APN |
2 |
127,132,792 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03328:Stard7
|
APN |
2 |
127,134,176 (GRCm39) |
splice site |
probably benign |
|
|
R0078:Stard7
|
UTSW |
2 |
127,134,127 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R0579:Stard7
|
UTSW |
2 |
127,126,473 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1607:Stard7
|
UTSW |
2 |
127,137,406 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
R1836:Stard7
|
UTSW |
2 |
127,137,480 (GRCm39) |
missense |
probably benign |
0.30 |
|
R4478:Stard7
|
UTSW |
2 |
127,126,179 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4526:Stard7
|
UTSW |
2 |
127,139,128 (GRCm39) |
missense |
probably benign |
|
|
R5075:Stard7
|
UTSW |
2 |
127,111,879 (GRCm39) |
unclassified |
probably benign |
|
|
R5279:Stard7
|
UTSW |
2 |
127,137,416 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6394:Stard7
|
UTSW |
2 |
127,126,161 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6608:Stard7
|
UTSW |
2 |
127,132,715 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7108:Stard7
|
UTSW |
2 |
127,137,414 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
R9284:Stard7
|
UTSW |
2 |
127,132,956 (GRCm39) |
missense |
probably damaging |
0.96 |
|
Z1176:Stard7
|
UTSW |
2 |
127,139,186 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
| Posted On |
2013-06-21 |
Incidental Mutation