Incidental Mutation 'RF063:Stard8'
| ID |
605473 |
| Institutional Source |
Beutler Lab
|
| 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 # |
RF063 (G1)
|
| Quality Score |
163.468 |
|
Status
|
Not validated
|
| Chromosome |
X |
| Chromosomal Location |
98046854-98118334 bp(+) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
GAG to GAGTAG
at 98110130 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000044491
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000036606]
[ENSMUST00000149999]
|
| AlphaFold |
Q8K031 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000036606
|
| SMART Domains |
Protein: ENSMUSP00000044491
Gene: ENSMUSG00000031216
| 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 |
probably benign
Transcript: ENSMUST00000149999
|
| Coding Region Coverage |
- 1x: 99.8%
- 3x: 99.7%
- 10x: 99.3%
- 20x: 98.6%
|
| 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: 26 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 5430401F13Rik |
CAGAAAGGAAAAGGTGGCCAG |
CAGAAAGGAAAAGGTGGCCAGCAAAAACAGAAAGGAAAAGGTGGCCAG |
6: 131,529,846 (GRCm39) |
|
probably benign |
Het |
| 5430401F13Rik |
AGAAAGGAAAAGGTGGCCAG |
AGAAAGGAAAAGGTGGCCAGCAAAAACAGAAAGGAAAAGGTGGCCAG |
6: 131,529,847 (GRCm39) |
|
probably benign |
Het |
| Abca2 |
G |
T |
2: 25,337,409 (GRCm39) |
E2421D |
probably damaging |
Het |
| Apc |
A |
AATAAAGCCC |
18: 34,415,062 (GRCm39) |
|
probably benign |
Het |
| Calhm1 |
TGGCTGTGGCTG |
TGGCTGTGGCTGCGGCTGTGGCTG |
19: 47,129,695 (GRCm39) |
|
probably benign |
Het |
| Casz1 |
CACA |
C |
4: 149,036,761 (GRCm39) |
|
probably benign |
Het |
| Dock4 |
GTGCCGGTGCCCGT |
G |
12: 40,894,398 (GRCm39) |
|
probably null |
Het |
| F11r |
CCCCCCCCC |
CCCCCCCCCCC |
1: 171,288,758 (GRCm39) |
|
probably benign |
Het |
| Fam171b |
C |
CAGCAGA |
2: 83,643,240 (GRCm39) |
|
probably benign |
Het |
| Fbrsl1 |
GCGTGTGCTGGT |
GCGTGTGCTGGTACGTGTGCTGGT |
5: 110,526,005 (GRCm39) |
|
probably benign |
Het |
| Fbrsl1 |
GTGCTGGTG |
GTGCTGGTGCGTCTGCTGGTG |
5: 110,526,009 (GRCm39) |
|
probably benign |
Het |
| Iqcf4 |
TCCTTTT |
TCCTTTTCCTTTTCCTTGTCCTTTTCCTTTTCCTTTGCCTTTT |
9: 106,447,816 (GRCm39) |
|
probably benign |
Het |
| Iqgap1 |
AGGCCACCACTGCTCACAGGTGCTGTACCT |
A |
7: 80,373,499 (GRCm39) |
|
probably null |
Het |
| Kmt2c |
GCT |
GCTCCT |
5: 25,520,762 (GRCm39) |
|
probably benign |
Het |
| Lrtm1 |
TAGCCTCAGTGGCC |
T |
14: 28,743,400 (GRCm39) |
|
probably null |
Het |
| Med12l |
AACA |
AACAACA |
3: 59,183,379 (GRCm39) |
|
probably benign |
Het |
| Med12l |
AGC |
AGCCGC |
3: 59,183,394 (GRCm39) |
|
probably benign |
Het |
| Rassf6 |
C |
CTGCCTCACTCATGGTCCTGTAGAGCAATGGGGATTA |
5: 90,756,801 (GRCm39) |
|
probably null |
Het |
| Sh3pxd2b |
TGTGCC |
TGTGCCCGTGCC |
11: 32,373,051 (GRCm39) |
|
probably benign |
Het |
| Sorcs2 |
ATACATACATACCT |
AT |
5: 36,311,155 (GRCm39) |
|
probably null |
Het |
| Spmap2l |
CCAG |
CCAGCGATCCTCCCCAGTCCCGCAAGGTCAG |
5: 77,164,273 (GRCm39) |
|
probably benign |
Het |
| Sry |
TGCTGCTGCTGCTGCTG |
T |
Y: 2,662,595 (GRCm39) |
|
probably null |
Het |
| Tcof1 |
GATCCCCTTGGC |
GATCCCCTTGGCTGCTGAGATGGGCACTTTCCCAGATATCCCCTTGGC |
18: 60,966,645 (GRCm39) |
|
probably benign |
Het |
| Trappc9 |
GCTGCTGCTGCT |
GCTGCTGCTGCTGCTTCTGCTGCTGCT |
15: 72,673,169 (GRCm39) |
|
probably benign |
Het |
| Trappc9 |
CTGCTGCT |
CTGCTGCTGCTGCTGTTGCTGCT |
15: 72,673,173 (GRCm39) |
|
probably benign |
Het |
| Vmn1r74 |
CAGAGCCACCAAGTACCT |
C |
7: 11,581,067 (GRCm39) |
|
probably null |
Het |
|
| Other mutations in Stard8 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00507:Stard8
|
APN |
X |
98,112,941 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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 |
|
|
RF064:Stard8
|
UTSW |
X |
98,110,133 (GRCm39) |
nonsense |
probably null |
|
|
X0004:Stard8
|
UTSW |
X |
98,110,289 (GRCm39) |
missense |
possibly damaging |
0.58 |
|
| Predicted Primers |
PCR Primer
(F):5'- CTATACAGGCTGAAGCTGAGGC -3'
(R):5'- CTGCAGTCGAGTTAGCTTCTTG -3'
Sequencing Primer
(F):5'- GCTGAGGCTGAAGCTGAG -3'
(R):5'- AGCCTGTACCAATGGTTCGAC -3'
|
| Posted On |
2019-12-04 |
Incidental Mutation