Incidental Mutation 'R4526:Stard7'
| ID |
334436 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Stard7
|
| Ensembl Gene |
ENSMUSG00000027367 |
| Gene Name |
StAR related lipid transfer domain containing 7 |
| Synonyms |
|
| MMRRC Submission |
041591-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.949)
|
| Stock # |
R4526 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
2 |
| Chromosomal Location |
127112138-127140852 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 127139128 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Glycine
at position 347
(S347G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000106004
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000110375]
|
| AlphaFold |
Q8R1R3 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000110375
AA Change: S347G
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000106004
Gene: ENSMUSG00000027367
AA Change: S347G
| 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 |
noncoding transcript
Transcript: ENSMUST00000123152
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000125049
AA Change: S382G
|
| SMART Domains |
Protein: ENSMUSP00000116374
Gene: ENSMUSG00000027367
AA Change: S382G
| 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: ENSMUST00000135616
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000144687
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000154549
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 97.0%
- 20x: 94.4%
|
| 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: 37 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930474N05Rik |
C |
T |
14: 35,818,535 (GRCm39) |
R178C |
probably damaging |
Het |
| Adamts16 |
G |
A |
13: 70,927,637 (GRCm39) |
|
probably benign |
Het |
| Adgre4 |
C |
A |
17: 56,092,016 (GRCm39) |
S92* |
probably null |
Het |
| Arl13b |
T |
C |
16: 62,632,374 (GRCm39) |
D73G |
probably damaging |
Het |
| Cd109 |
CATTTATTTATTTATTTATTTATTTATTTATTTAT |
CATTTATTTATTTATTTATTTATTTATTTATTTATTTAT |
9: 78,619,782 (GRCm39) |
|
probably benign |
Het |
| Crebzf |
A |
C |
7: 90,092,968 (GRCm39) |
E16A |
possibly damaging |
Het |
| D430041D05Rik |
A |
G |
2: 104,022,778 (GRCm39) |
|
probably null |
Het |
| Dnah1 |
C |
A |
14: 31,007,955 (GRCm39) |
D2151Y |
probably benign |
Het |
| Gli3 |
A |
G |
13: 15,888,216 (GRCm39) |
K544E |
probably damaging |
Het |
| Gm17542 |
T |
C |
10: 58,549,435 (GRCm39) |
D31G |
probably null |
Het |
| Lcn9 |
A |
C |
2: 25,714,520 (GRCm39) |
K128T |
possibly damaging |
Het |
| Lman2l |
T |
C |
1: 36,477,844 (GRCm39) |
E164G |
probably damaging |
Het |
| Lpin2 |
T |
A |
17: 71,544,373 (GRCm39) |
|
probably null |
Het |
| Ly75 |
G |
A |
2: 60,161,117 (GRCm39) |
T900M |
probably benign |
Het |
| Mapk15 |
A |
T |
15: 75,867,104 (GRCm39) |
I74F |
possibly damaging |
Het |
| Myh10 |
C |
T |
11: 68,705,875 (GRCm39) |
T2007I |
probably benign |
Het |
| Nek1 |
T |
C |
8: 61,559,978 (GRCm39) |
S937P |
probably damaging |
Het |
| Oas1b |
T |
A |
5: 120,960,167 (GRCm39) |
|
probably null |
Het |
| Or4x6 |
T |
C |
2: 89,949,016 (GRCm39) |
K309E |
probably benign |
Het |
| Or5l13 |
T |
C |
2: 87,779,753 (GRCm39) |
T275A |
probably benign |
Het |
| Or8h8 |
C |
T |
2: 86,753,339 (GRCm39) |
C179Y |
possibly damaging |
Het |
| Otogl |
G |
A |
10: 107,722,841 (GRCm39) |
P297S |
probably damaging |
Het |
| Plekhm1 |
A |
G |
11: 103,286,130 (GRCm39) |
S102P |
probably damaging |
Het |
| Plvap |
G |
A |
8: 71,960,415 (GRCm39) |
R334W |
probably damaging |
Het |
| Polr2b |
T |
G |
5: 77,474,561 (GRCm39) |
V466G |
probably damaging |
Het |
| Ptpn13 |
T |
C |
5: 103,649,335 (GRCm39) |
I246T |
probably benign |
Het |
| Rims2 |
A |
T |
15: 39,301,113 (GRCm39) |
K281N |
probably damaging |
Het |
| Scamp4 |
T |
C |
10: 80,446,891 (GRCm39) |
F108S |
probably damaging |
Het |
| Snrnp200 |
A |
G |
2: 127,071,022 (GRCm39) |
N1101S |
probably benign |
Het |
| Sntb2 |
C |
A |
8: 107,736,595 (GRCm39) |
L490M |
probably damaging |
Het |
| Ssu2 |
A |
G |
6: 112,359,383 (GRCm39) |
V79A |
possibly damaging |
Het |
| Usp5 |
C |
G |
6: 124,799,593 (GRCm39) |
K318N |
possibly damaging |
Het |
| Vmn2r6 |
A |
G |
3: 64,445,145 (GRCm39) |
V860A |
probably benign |
Het |
| Vmn2r60 |
A |
G |
7: 41,844,667 (GRCm39) |
T677A |
probably damaging |
Het |
| Zfp318 |
T |
A |
17: 46,723,284 (GRCm39) |
H1762Q |
probably benign |
Het |
| Zmynd8 |
TTGCTGCTGCTGCTGCTG |
TTGCTGCTGCTGCTG |
2: 165,649,527 (GRCm39) |
|
probably benign |
Het |
| Zng1 |
A |
G |
19: 24,935,328 (GRCm39) |
Y59H |
probably benign |
Het |
|
| Other mutations in Stard7 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01088:Stard7
|
APN |
2 |
127,112,746 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- TTTGGTTTTGAGCCTCTCACTG -3'
(R):5'- ACATGTGTGACTTGTCCCTGT -3'
Sequencing Primer
(F):5'- CTTGGAACTCATTCTGTAGACCAGG -3'
(R):5'- TCCCTGTCCTGCAGCAGAG -3'
|
| Posted On |
2015-08-18 |
Incidental Mutation