Incidental Mutation 'R6296:Stard13'
| ID |
508758 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Stard13
|
| Ensembl Gene |
ENSMUSG00000016128 |
| Gene Name |
StAR related lipid transfer domain containing 13 |
| Synonyms |
GT650, DLC2 |
| MMRRC Submission |
044407-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R6296 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
5 |
| Chromosomal Location |
150960975-151157301 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 150986138 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Arginine
at position 339
(S339R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000144056
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000062015]
[ENSMUST00000110483]
[ENSMUST00000129088]
[ENSMUST00000202111]
[ENSMUST00000202365]
|
| AlphaFold |
Q923Q2 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000062015
AA Change: S457R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000053232
Gene: ENSMUSG00000016128
AA Change: S457R
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:SAM_2
|
59 |
120 |
2.6e-6 |
PFAM |
|
low complexity region
|
197 |
216 |
N/A |
INTRINSIC |
|
low complexity region
|
322 |
340 |
N/A |
INTRINSIC |
|
low complexity region
|
473 |
486 |
N/A |
INTRINSIC |
|
low complexity region
|
612 |
624 |
N/A |
INTRINSIC |
|
RhoGAP
|
693 |
884 |
2.37e-50 |
SMART |
|
START
|
927 |
1129 |
2.08e-40 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000110483
AA Change: S457R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000106109
Gene: ENSMUSG00000016128
AA Change: S457R
| Domain | Start | End | E-Value | Type |
|---|
|
PDB:2JW2|A
|
50 |
120 |
1e-37 |
PDB |
|
low complexity region
|
197 |
216 |
N/A |
INTRINSIC |
|
low complexity region
|
322 |
340 |
N/A |
INTRINSIC |
|
low complexity region
|
473 |
486 |
N/A |
INTRINSIC |
|
low complexity region
|
612 |
624 |
N/A |
INTRINSIC |
|
RhoGAP
|
674 |
865 |
2.37e-50 |
SMART |
|
START
|
908 |
1110 |
2.08e-40 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000129088
|
| SMART Domains |
Protein: ENSMUSP00000116705
Gene: ENSMUSG00000016128
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:SAM
|
40 |
104 |
6e-32 |
BLAST |
|
PDB:2JW2|A
|
42 |
104 |
8e-33 |
PDB |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000141117
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000201680
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000202111
AA Change: S339R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000144056
Gene: ENSMUSG00000016128
AA Change: S339R
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
79 |
98 |
N/A |
INTRINSIC |
|
low complexity region
|
204 |
222 |
N/A |
INTRINSIC |
|
low complexity region
|
355 |
368 |
N/A |
INTRINSIC |
|
low complexity region
|
494 |
506 |
N/A |
INTRINSIC |
|
RhoGAP
|
556 |
747 |
1.4e-52 |
SMART |
|
START
|
790 |
992 |
1.4e-42 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000202365
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000202385
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 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 protein which contains an N-terminal sterile alpha motif (SAM) for protein-protein interactions, followed by an ATP/GTP-binding motif, a GTPase-activating protein (GAP) domain, and a C-terminal STAR-related lipid transfer (START) domain. It may be involved in regulation of cytoskeletal reorganization, cell proliferation, and cell motility, and acts as a tumor suppressor in hepatoma cells. The gene is located in a region of chromosome 13 that is associated with loss of heterozygosity in hepatocellular carcinomas. Alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Aug 2011]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit small body size, decreased weight, and reduced adipose tissue. Mice homozygous for another knock-out allele exhibit increased angiogenesis in matrigel plugs and implanted tumors. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 82 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4933427D14Rik |
T |
C |
11: 72,086,580 (GRCm39) |
K277R |
probably damaging |
Het |
| Aatf |
T |
C |
11: 84,363,926 (GRCm39) |
Y267C |
probably benign |
Het |
| Adcy5 |
A |
G |
16: 35,124,080 (GRCm39) |
Y1253C |
probably damaging |
Het |
| Adgra3 |
G |
A |
5: 50,118,189 (GRCm39) |
P1120S |
probably benign |
Het |
| Adm |
A |
G |
7: 110,227,561 (GRCm39) |
T26A |
probably benign |
Het |
| Ahnak |
T |
G |
19: 8,980,669 (GRCm39) |
V651G |
probably damaging |
Het |
| Akr7a5 |
G |
A |
4: 139,045,532 (GRCm39) |
V358I |
probably benign |
Het |
| Ankar |
T |
G |
1: 72,682,417 (GRCm39) |
T1383P |
probably damaging |
Het |
| Bpifb6 |
G |
C |
2: 153,748,812 (GRCm39) |
K269N |
possibly damaging |
Het |
| Cacna1c |
T |
C |
6: 118,575,684 (GRCm39) |
E1927G |
possibly damaging |
Het |
| Cacna1c |
T |
A |
6: 118,629,675 (GRCm39) |
T1249S |
probably benign |
Het |
| Cacna1h |
G |
A |
17: 25,602,053 (GRCm39) |
R1596C |
probably damaging |
Het |
| Cbll1 |
A |
G |
12: 31,537,507 (GRCm39) |
V415A |
probably benign |
Het |
| Cd300lf |
C |
T |
11: 115,015,195 (GRCm39) |
V132I |
probably benign |
Het |
| Cfap54 |
T |
C |
10: 92,902,708 (GRCm39) |
Y148C |
probably damaging |
Het |
| Coa5 |
A |
G |
1: 37,467,428 (GRCm39) |
S60P |
probably damaging |
Het |
| Col6a2 |
T |
C |
10: 76,446,883 (GRCm39) |
N342D |
probably damaging |
Het |
| Cyp2c29 |
T |
G |
19: 39,318,705 (GRCm39) |
I434S |
possibly damaging |
Het |
| Ddx11 |
G |
A |
17: 66,457,724 (GRCm39) |
|
probably null |
Het |
| Dgke |
C |
T |
11: 88,931,575 (GRCm39) |
V560I |
probably benign |
Het |
| Dusp16 |
C |
A |
6: 134,697,456 (GRCm39) |
|
probably null |
Het |
| Enpp4 |
G |
T |
17: 44,413,371 (GRCm39) |
N54K |
probably benign |
Het |
| Epn1 |
G |
A |
7: 5,093,122 (GRCm39) |
A145T |
probably damaging |
Het |
| Erc2 |
A |
T |
14: 27,802,112 (GRCm39) |
K764M |
probably damaging |
Het |
| Ercc6 |
G |
T |
14: 32,248,360 (GRCm39) |
E304* |
probably null |
Het |
| Fam117a |
T |
A |
11: 95,254,971 (GRCm39) |
C115S |
possibly damaging |
Het |
| Galntl5 |
T |
C |
5: 25,391,163 (GRCm39) |
S21P |
probably benign |
Het |
| Gm6358 |
T |
C |
16: 88,937,970 (GRCm39) |
S70P |
unknown |
Het |
| Grip1 |
C |
T |
10: 119,911,369 (GRCm39) |
Q696* |
probably null |
Het |
| Haus5 |
C |
T |
7: 30,358,401 (GRCm39) |
W298* |
probably null |
Het |
| Hsfy2 |
T |
A |
1: 56,676,351 (GRCm39) |
H62L |
probably benign |
Het |
| Ighm |
T |
C |
12: 113,385,187 (GRCm39) |
I258V |
unknown |
Het |
| Igkv13-71-1 |
G |
T |
6: 69,212,783 (GRCm39) |
|
noncoding transcript |
Het |
| Inava |
C |
T |
1: 136,148,809 (GRCm39) |
|
probably null |
Het |
| Irx1 |
A |
C |
13: 72,107,787 (GRCm39) |
S298R |
probably damaging |
Het |
| Jarid2 |
T |
A |
13: 45,056,539 (GRCm39) |
Y443N |
possibly damaging |
Het |
| Kcnc1 |
G |
A |
7: 46,084,740 (GRCm39) |
A555T |
probably benign |
Het |
| Krtap4-6 |
T |
A |
11: 99,556,245 (GRCm39) |
R161* |
probably null |
Het |
| Lipo3 |
T |
C |
19: 33,757,737 (GRCm39) |
D244G |
probably benign |
Het |
| Lmo2 |
T |
G |
2: 103,800,946 (GRCm39) |
V39G |
possibly damaging |
Het |
| Lrch2 |
C |
T |
X: 146,263,553 (GRCm39) |
A369T |
probably damaging |
Homo |
| Macf1 |
A |
T |
4: 123,326,668 (GRCm39) |
I4943N |
probably damaging |
Het |
| Mkx |
A |
T |
18: 7,000,591 (GRCm39) |
|
probably null |
Het |
| Nek1 |
C |
T |
8: 61,525,343 (GRCm39) |
Q594* |
probably null |
Het |
| Nipbl |
T |
C |
15: 8,330,379 (GRCm39) |
M2349V |
possibly damaging |
Het |
| Nup155 |
T |
A |
15: 8,182,639 (GRCm39) |
C1201S |
probably damaging |
Het |
| Or2y8 |
C |
A |
11: 52,035,423 (GRCm39) |
R311S |
probably benign |
Het |
| Or4a76 |
G |
A |
2: 89,460,975 (GRCm39) |
T89I |
probably damaging |
Het |
| Or5ac25 |
T |
C |
16: 59,181,769 (GRCm39) |
K271E |
probably benign |
Het |
| Osbpl1a |
A |
G |
18: 12,952,560 (GRCm39) |
|
probably null |
Het |
| Pbx1 |
T |
C |
1: 168,011,184 (GRCm39) |
D372G |
possibly damaging |
Het |
| Pikfyve |
T |
A |
1: 65,302,112 (GRCm39) |
S1668T |
probably damaging |
Het |
| Pitpnc1 |
T |
C |
11: 107,117,092 (GRCm39) |
H193R |
probably damaging |
Het |
| Plag1 |
G |
T |
4: 3,904,499 (GRCm39) |
H231N |
probably damaging |
Het |
| Prmt8 |
A |
G |
6: 127,688,767 (GRCm39) |
I201T |
probably damaging |
Het |
| Ptpn23 |
A |
T |
9: 110,222,894 (GRCm39) |
N54K |
probably damaging |
Het |
| Rab11fip4 |
T |
C |
11: 79,581,655 (GRCm39) |
|
probably null |
Het |
| Rassf9 |
T |
A |
10: 102,381,614 (GRCm39) |
I332N |
probably damaging |
Het |
| Rgs9 |
T |
C |
11: 109,159,813 (GRCm39) |
N173S |
probably benign |
Het |
| Rhbdl1 |
A |
G |
17: 26,053,943 (GRCm39) |
L309P |
probably damaging |
Het |
| Rnf214 |
A |
G |
9: 45,779,119 (GRCm39) |
S389P |
probably benign |
Het |
| Rxfp1 |
A |
C |
3: 79,575,155 (GRCm39) |
L181R |
probably damaging |
Het |
| Sfxn1 |
C |
T |
13: 54,247,899 (GRCm39) |
T208I |
probably benign |
Het |
| Sgo2b |
C |
T |
8: 64,380,827 (GRCm39) |
M668I |
probably benign |
Het |
| Sh3bp4 |
C |
A |
1: 89,073,211 (GRCm39) |
S686R |
probably damaging |
Het |
| Spata31d1d |
G |
A |
13: 59,876,278 (GRCm39) |
T419I |
possibly damaging |
Het |
| Spata31d1e |
T |
C |
13: 59,890,497 (GRCm39) |
D441G |
probably benign |
Het |
| Spink5 |
T |
C |
18: 44,147,824 (GRCm39) |
S857P |
probably damaging |
Het |
| Stk35 |
T |
A |
2: 129,652,808 (GRCm39) |
Y436* |
probably null |
Het |
| Supt6 |
C |
T |
11: 78,116,885 (GRCm39) |
R589Q |
possibly damaging |
Het |
| Tinag |
T |
A |
9: 76,904,217 (GRCm39) |
E402V |
possibly damaging |
Het |
| Tmem183a |
T |
C |
1: 134,289,349 (GRCm39) |
D27G |
probably damaging |
Het |
| Tnfrsf13c |
T |
C |
15: 82,108,103 (GRCm39) |
T56A |
probably damaging |
Het |
| Tnrc18 |
A |
C |
5: 142,719,331 (GRCm39) |
L1985R |
unknown |
Het |
| Ttn |
G |
A |
2: 76,579,673 (GRCm39) |
T23740M |
probably damaging |
Het |
| Ufl1 |
G |
T |
4: 25,270,572 (GRCm39) |
Q215K |
probably benign |
Het |
| Unkl |
T |
C |
17: 25,450,839 (GRCm39) |
*232R |
probably null |
Het |
| Wnk4 |
A |
T |
11: 101,164,824 (GRCm39) |
N718Y |
probably damaging |
Het |
| Xkr4 |
T |
C |
1: 3,286,793 (GRCm39) |
T466A |
probably benign |
Het |
| Zfp451 |
T |
A |
1: 33,808,898 (GRCm39) |
K988* |
probably null |
Het |
| Zfp503 |
G |
C |
14: 22,035,868 (GRCm39) |
Y349* |
probably null |
Het |
| Zfp990 |
T |
A |
4: 145,264,673 (GRCm39) |
F557Y |
possibly damaging |
Het |
|
| Other mutations in Stard13 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00639:Stard13
|
APN |
5 |
150,965,704 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01362:Stard13
|
APN |
5 |
151,113,417 (GRCm39) |
missense |
probably benign |
0.05 |
|
IGL01588:Stard13
|
APN |
5 |
150,968,702 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01947:Stard13
|
APN |
5 |
150,986,309 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02294:Stard13
|
APN |
5 |
150,986,580 (GRCm39) |
missense |
probably benign |
0.19 |
|
IGL02713:Stard13
|
APN |
5 |
150,965,651 (GRCm39) |
nonsense |
probably null |
|
|
IGL02746:Stard13
|
APN |
5 |
150,970,322 (GRCm39) |
splice site |
probably benign |
|
|
IGL02827:Stard13
|
APN |
5 |
150,986,591 (GRCm39) |
missense |
probably benign |
0.07 |
|
R0498:Stard13
|
UTSW |
5 |
150,975,942 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1427:Stard13
|
UTSW |
5 |
150,969,456 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1785:Stard13
|
UTSW |
5 |
150,968,633 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1857:Stard13
|
UTSW |
5 |
151,018,903 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1858:Stard13
|
UTSW |
5 |
151,018,903 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2130:Stard13
|
UTSW |
5 |
150,968,633 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2131:Stard13
|
UTSW |
5 |
150,968,633 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2132:Stard13
|
UTSW |
5 |
150,968,633 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2133:Stard13
|
UTSW |
5 |
150,968,633 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2258:Stard13
|
UTSW |
5 |
150,963,196 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3435:Stard13
|
UTSW |
5 |
150,965,644 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4080:Stard13
|
UTSW |
5 |
151,016,294 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R4081:Stard13
|
UTSW |
5 |
151,016,294 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R4082:Stard13
|
UTSW |
5 |
151,016,294 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R4233:Stard13
|
UTSW |
5 |
150,986,164 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4288:Stard13
|
UTSW |
5 |
150,968,642 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4303:Stard13
|
UTSW |
5 |
150,986,334 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R4659:Stard13
|
UTSW |
5 |
150,986,253 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4695:Stard13
|
UTSW |
5 |
150,984,280 (GRCm39) |
missense |
probably benign |
0.08 |
|
R4910:Stard13
|
UTSW |
5 |
150,985,992 (GRCm39) |
missense |
probably benign |
|
|
R5135:Stard13
|
UTSW |
5 |
150,986,232 (GRCm39) |
nonsense |
probably null |
|
|
R5338:Stard13
|
UTSW |
5 |
150,983,063 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5399:Stard13
|
UTSW |
5 |
150,971,266 (GRCm39) |
nonsense |
probably null |
|
|
R5546:Stard13
|
UTSW |
5 |
150,969,366 (GRCm39) |
missense |
probably benign |
0.03 |
|
R5685:Stard13
|
UTSW |
5 |
150,986,592 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
R5771:Stard13
|
UTSW |
5 |
151,113,476 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6034:Stard13
|
UTSW |
5 |
151,018,965 (GRCm39) |
splice site |
probably null |
|
|
R6034:Stard13
|
UTSW |
5 |
151,018,965 (GRCm39) |
splice site |
probably null |
|
|
R6141:Stard13
|
UTSW |
5 |
150,965,707 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6171:Stard13
|
UTSW |
5 |
151,016,227 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6326:Stard13
|
UTSW |
5 |
150,970,384 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R6508:Stard13
|
UTSW |
5 |
150,986,754 (GRCm39) |
missense |
probably benign |
0.06 |
|
R7252:Stard13
|
UTSW |
5 |
150,986,634 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7318:Stard13
|
UTSW |
5 |
150,986,038 (GRCm39) |
nonsense |
probably null |
|
|
R7459:Stard13
|
UTSW |
5 |
150,971,064 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7571:Stard13
|
UTSW |
5 |
150,982,967 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R7696:Stard13
|
UTSW |
5 |
150,984,267 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7809:Stard13
|
UTSW |
5 |
151,113,489 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7962:Stard13
|
UTSW |
5 |
150,975,838 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7970:Stard13
|
UTSW |
5 |
150,986,726 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R8103:Stard13
|
UTSW |
5 |
150,970,435 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R8113:Stard13
|
UTSW |
5 |
150,986,970 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8263:Stard13
|
UTSW |
5 |
151,157,106 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R8392:Stard13
|
UTSW |
5 |
150,965,627 (GRCm39) |
missense |
probably benign |
0.24 |
|
R8490:Stard13
|
UTSW |
5 |
150,987,090 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8726:Stard13
|
UTSW |
5 |
150,986,607 (GRCm39) |
missense |
probably benign |
0.28 |
|
R8896:Stard13
|
UTSW |
5 |
150,986,115 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8939:Stard13
|
UTSW |
5 |
150,968,574 (GRCm39) |
critical splice donor site |
probably null |
|
|
R8946:Stard13
|
UTSW |
5 |
150,984,267 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9157:Stard13
|
UTSW |
5 |
151,157,152 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9257:Stard13
|
UTSW |
5 |
150,985,956 (GRCm39) |
missense |
probably benign |
|
|
R9387:Stard13
|
UTSW |
5 |
151,113,483 (GRCm39) |
missense |
probably benign |
0.27 |
|
R9586:Stard13
|
UTSW |
5 |
150,985,832 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R9708:Stard13
|
UTSW |
5 |
150,986,961 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R9771:Stard13
|
UTSW |
5 |
150,983,048 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1177:Stard13
|
UTSW |
5 |
150,986,799 (GRCm39) |
missense |
probably benign |
0.18 |
|
| Predicted Primers |
PCR Primer
(F):5'- AATGTGCTGTGACTTTGCAG -3'
(R):5'- CATGCATGGGTTTCACTCCC -3'
Sequencing Primer
(F):5'- ACTTTGCAGTTCGGGTAAGATG -3'
(R):5'- GAAAACTTGGTGGTCCACATTCC -3'
|
| Posted On |
2018-04-02 |
Incidental Mutation