Incidental Mutation 'R0498:Stard13'
ID |
40599 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Stard13
|
Ensembl Gene |
ENSMUSG00000016128 |
Gene Name |
StAR related lipid transfer domain containing 13 |
Synonyms |
GT650, DLC2 |
MMRRC Submission |
038694-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R0498 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
5 |
Chromosomal Location |
150960975-151157301 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 150975942 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tyrosine to Phenylalanine
at position 742
(Y742F)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000053232
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000062015]
[ENSMUST00000110483]
[ENSMUST00000202111]
|
AlphaFold |
Q923Q2 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000062015
AA Change: Y742F
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
SMART Domains |
Protein: ENSMUSP00000053232 Gene: ENSMUSG00000016128 AA Change: Y742F
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: Y723F
PolyPhen 2
Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000106109 Gene: ENSMUSG00000016128 AA Change: Y723F
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 |
possibly damaging
Transcript: ENSMUST00000202111
AA Change: Y605F
PolyPhen 2
Score 0.678 (Sensitivity: 0.86; Specificity: 0.92)
|
SMART Domains |
Protein: ENSMUSP00000144056 Gene: ENSMUSG00000016128 AA Change: Y605F
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 |
|
Meta Mutation Damage Score |
0.3050 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 96.9%
- 20x: 94.4%
|
Validation Efficiency |
100% (68/68) |
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: 68 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4930433I11Rik |
A |
T |
7: 40,642,718 (GRCm39) |
D220V |
probably benign |
Het |
Adgrf2 |
A |
G |
17: 43,025,206 (GRCm39) |
|
probably benign |
Het |
Aldh18a1 |
A |
G |
19: 40,562,716 (GRCm39) |
V219A |
probably benign |
Het |
Anapc10 |
A |
G |
8: 80,501,610 (GRCm39) |
D126G |
probably benign |
Het |
Ap1m2 |
T |
C |
9: 21,207,129 (GRCm39) |
*426W |
probably null |
Het |
Arhgap21 |
A |
G |
2: 20,867,928 (GRCm39) |
I865T |
probably damaging |
Het |
Armc8 |
A |
G |
9: 99,379,345 (GRCm39) |
V527A |
probably damaging |
Het |
Asic5 |
A |
T |
3: 81,913,778 (GRCm39) |
|
probably benign |
Het |
Baz2b |
A |
C |
2: 59,732,340 (GRCm39) |
|
probably benign |
Het |
Bpifa5 |
T |
C |
2: 154,009,169 (GRCm39) |
V237A |
probably damaging |
Het |
Brip1 |
T |
A |
11: 86,088,745 (GRCm39) |
K52I |
possibly damaging |
Het |
Cacna1g |
T |
C |
11: 94,350,685 (GRCm39) |
I387V |
probably damaging |
Het |
Cbr4 |
A |
G |
8: 61,948,107 (GRCm39) |
I135V |
probably benign |
Het |
Ccdc66 |
C |
T |
14: 27,222,197 (GRCm39) |
|
probably null |
Het |
Cubn |
G |
A |
2: 13,449,078 (GRCm39) |
T999M |
probably damaging |
Het |
Dnai3 |
G |
T |
3: 145,787,119 (GRCm39) |
D305E |
possibly damaging |
Het |
Dpp8 |
C |
T |
9: 64,953,077 (GRCm39) |
|
probably benign |
Het |
Dsg1b |
T |
C |
18: 20,542,390 (GRCm39) |
S966P |
possibly damaging |
Het |
Erp27 |
T |
C |
6: 136,896,862 (GRCm39) |
|
probably benign |
Het |
Fat4 |
A |
T |
3: 39,034,786 (GRCm39) |
I2813L |
probably benign |
Het |
Fhod1 |
G |
A |
8: 106,056,488 (GRCm39) |
R1101C |
probably damaging |
Het |
Hoxc9 |
T |
C |
15: 102,892,359 (GRCm39) |
S191P |
probably damaging |
Het |
Izumo4 |
T |
C |
10: 80,540,030 (GRCm39) |
|
probably null |
Het |
Kalrn |
C |
T |
16: 33,875,261 (GRCm39) |
D104N |
possibly damaging |
Het |
Kank4 |
A |
T |
4: 98,667,873 (GRCm39) |
D191E |
probably benign |
Het |
Kbtbd11 |
A |
G |
8: 15,077,605 (GRCm39) |
E68G |
probably benign |
Het |
Kdr |
C |
T |
5: 76,119,798 (GRCm39) |
V654I |
probably benign |
Het |
Klra1 |
A |
T |
6: 130,349,782 (GRCm39) |
|
probably null |
Het |
Kmt2e |
T |
A |
5: 23,683,970 (GRCm39) |
Y373* |
probably null |
Het |
Lepr |
A |
T |
4: 101,602,889 (GRCm39) |
M226L |
probably benign |
Het |
Lrp1b |
T |
A |
2: 41,348,417 (GRCm39) |
I800F |
probably benign |
Het |
Lta4h |
T |
C |
10: 93,307,833 (GRCm39) |
|
probably benign |
Het |
Map3k7 |
T |
C |
4: 31,974,814 (GRCm39) |
|
probably benign |
Het |
Map4k4 |
G |
A |
1: 40,029,338 (GRCm39) |
R371Q |
probably benign |
Het |
Mgat4f |
A |
G |
1: 134,318,610 (GRCm39) |
I461V |
possibly damaging |
Het |
Mme |
A |
G |
3: 63,253,487 (GRCm39) |
I444V |
probably damaging |
Het |
Mms19 |
C |
T |
19: 41,938,212 (GRCm39) |
R582Q |
possibly damaging |
Het |
Mtss1 |
A |
G |
15: 58,817,286 (GRCm39) |
S502P |
probably damaging |
Het |
Myo3a |
G |
T |
2: 22,467,441 (GRCm39) |
A232S |
possibly damaging |
Het |
Nwd2 |
G |
T |
5: 63,963,686 (GRCm39) |
W1090L |
probably damaging |
Het |
Or4k15 |
A |
C |
14: 50,364,750 (GRCm39) |
T239P |
probably damaging |
Het |
Or8b12 |
G |
A |
9: 37,657,550 (GRCm39) |
G40E |
probably damaging |
Het |
Pcm1 |
G |
A |
8: 41,746,806 (GRCm39) |
S1335N |
probably benign |
Het |
Pdzph1 |
A |
G |
17: 59,280,825 (GRCm39) |
F486L |
probably benign |
Het |
Piezo2 |
T |
C |
18: 63,235,245 (GRCm39) |
K552R |
possibly damaging |
Het |
Plekhs1 |
T |
A |
19: 56,469,536 (GRCm39) |
|
probably null |
Het |
Pprc1 |
C |
T |
19: 46,060,007 (GRCm39) |
Q1514* |
probably null |
Het |
Ralgapa1 |
T |
C |
12: 55,736,576 (GRCm39) |
T1831A |
possibly damaging |
Het |
Rnpep |
G |
T |
1: 135,193,090 (GRCm39) |
D455E |
probably damaging |
Het |
Rpgrip1 |
T |
A |
14: 52,368,771 (GRCm39) |
|
probably benign |
Het |
Saxo1 |
A |
T |
4: 86,397,133 (GRCm39) |
M135K |
possibly damaging |
Het |
Serpina12 |
T |
C |
12: 104,002,048 (GRCm39) |
T223A |
probably damaging |
Het |
Serpinb3a |
A |
G |
1: 106,974,880 (GRCm39) |
F218L |
probably damaging |
Het |
Serpinb9f |
T |
G |
13: 33,509,990 (GRCm39) |
|
probably benign |
Het |
Spata33 |
A |
G |
8: 123,948,662 (GRCm39) |
D98G |
probably benign |
Het |
Tecta |
A |
G |
9: 42,288,910 (GRCm39) |
Y552H |
probably damaging |
Het |
Tie1 |
A |
T |
4: 118,336,358 (GRCm39) |
|
probably benign |
Het |
Tmem161a |
A |
G |
8: 70,633,623 (GRCm39) |
T254A |
probably benign |
Het |
Tmem30a |
G |
T |
9: 79,681,376 (GRCm39) |
Y264* |
probably null |
Het |
Tmem87a |
A |
T |
2: 120,224,946 (GRCm39) |
I105K |
probably benign |
Het |
Tnrc6b |
A |
T |
15: 80,742,920 (GRCm39) |
D51V |
probably damaging |
Het |
Trgc3 |
T |
A |
13: 19,445,262 (GRCm39) |
M70K |
probably damaging |
Het |
Trpc4 |
T |
C |
3: 54,198,632 (GRCm39) |
F519L |
probably damaging |
Het |
Ttn |
T |
C |
2: 76,539,925 (GRCm39) |
T26027A |
probably damaging |
Het |
Vmn1r198 |
A |
C |
13: 22,539,144 (GRCm39) |
H121P |
probably damaging |
Het |
Vps33a |
A |
G |
5: 123,709,024 (GRCm39) |
F64L |
probably benign |
Het |
Zfp1008 |
T |
C |
13: 62,755,201 (GRCm39) |
N39S |
probably damaging |
Het |
Zfp994 |
A |
T |
17: 22,419,882 (GRCm39) |
C356S |
probably 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 |
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 |
R6296:Stard13
|
UTSW |
5 |
150,986,138 (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'- TGACACAGAGATGTCCATAGCAAACTG -3'
(R):5'- TTGAGCTAGGATAGACTCCCAGCTCC -3'
Sequencing Primer
(F):5'- tcacagaggagcatagttcag -3'
(R):5'- AGCTCCCCAAGTCCTGG -3'
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Posted On |
2013-05-23 |