Incidental Mutation 'R5399:Stard13'
| ID |
478339 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Stard13
|
| Ensembl Gene |
ENSMUSG00000016128 |
| Gene Name |
StAR related lipid transfer domain containing 13 |
| Synonyms |
GT650, DLC2 |
| MMRRC Submission |
042970-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R5399 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
5 |
| Chromosomal Location |
150960975-151157301 bp(-) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
A to T
at 150971266 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Stop codon
at position 643
(Y643*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000144056
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000062015]
[ENSMUST00000110483]
[ENSMUST00000202111]
|
| AlphaFold |
Q923Q2 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000062015
AA Change: Y780*
|
| SMART Domains |
Protein: ENSMUSP00000053232
Gene: ENSMUSG00000016128
AA Change: Y780*
| 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 null
Transcript: ENSMUST00000110483
AA Change: Y761*
|
| SMART Domains |
Protein: ENSMUSP00000106109
Gene: ENSMUSG00000016128
AA Change: Y761*
| 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 null
Transcript: ENSMUST00000202111
AA Change: Y643*
|
| SMART Domains |
Protein: ENSMUSP00000144056
Gene: ENSMUSG00000016128
AA Change: Y643*
| 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 |
|
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 95.3%
|
| 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: 70 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 6820408C15Rik |
G |
T |
2: 152,282,788 (GRCm39) |
L214F |
probably damaging |
Het |
| Abcb1b |
T |
C |
5: 8,877,410 (GRCm39) |
S657P |
probably benign |
Het |
| Abcb5 |
T |
A |
12: 118,875,234 (GRCm39) |
Y646F |
probably benign |
Het |
| Agl |
A |
T |
3: 116,575,277 (GRCm39) |
L620Q |
probably damaging |
Het |
| Anapc15 |
C |
T |
7: 101,547,810 (GRCm39) |
P68L |
probably damaging |
Het |
| Arhgap23 |
A |
G |
11: 97,391,743 (GRCm39) |
N1420S |
probably damaging |
Het |
| Barx2 |
A |
G |
9: 31,765,407 (GRCm39) |
|
probably null |
Het |
| Birc6 |
C |
A |
17: 74,911,573 (GRCm39) |
S28R |
possibly damaging |
Het |
| Bmal2 |
T |
G |
6: 146,724,159 (GRCm39) |
D350E |
probably damaging |
Het |
| Btbd19 |
G |
A |
4: 116,980,957 (GRCm39) |
A104V |
probably damaging |
Het |
| Casp4 |
A |
T |
9: 5,324,928 (GRCm39) |
K247* |
probably null |
Het |
| Ccdc196 |
A |
C |
12: 78,244,227 (GRCm39) |
N60T |
probably damaging |
Het |
| Clk4 |
T |
C |
11: 51,166,084 (GRCm39) |
Y17H |
probably damaging |
Het |
| Cntnap1 |
A |
G |
11: 101,074,142 (GRCm39) |
Q722R |
probably benign |
Het |
| Col6a6 |
A |
G |
9: 105,586,306 (GRCm39) |
V1905A |
possibly damaging |
Het |
| Csmd1 |
C |
A |
8: 16,760,613 (GRCm39) |
G174V |
probably damaging |
Het |
| Cul1 |
T |
A |
6: 47,462,018 (GRCm39) |
|
probably null |
Het |
| Cux1 |
T |
C |
5: 136,281,458 (GRCm39) |
E568G |
possibly damaging |
Het |
| Dnaaf2 |
A |
G |
12: 69,243,516 (GRCm39) |
I515T |
probably damaging |
Het |
| Fbn1 |
T |
C |
2: 125,174,253 (GRCm39) |
I1868V |
possibly damaging |
Het |
| Fcgbp |
G |
T |
7: 27,804,480 (GRCm39) |
V1863L |
probably benign |
Het |
| G2e3 |
T |
C |
12: 51,403,977 (GRCm39) |
|
probably null |
Het |
| Gabrr2 |
T |
C |
4: 33,071,458 (GRCm39) |
|
probably null |
Het |
| Gad1-ps |
G |
A |
10: 99,281,009 (GRCm39) |
|
noncoding transcript |
Het |
| Gbgt1 |
C |
T |
2: 28,393,230 (GRCm39) |
P106L |
probably damaging |
Het |
| Golga3 |
A |
G |
5: 110,352,890 (GRCm39) |
E927G |
probably damaging |
Het |
| Hfm1 |
T |
A |
5: 107,065,428 (GRCm39) |
I84F |
possibly damaging |
Het |
| Htt |
G |
T |
5: 35,034,495 (GRCm39) |
D1989Y |
probably damaging |
Het |
| Ihh |
C |
T |
1: 74,985,436 (GRCm39) |
A350T |
probably benign |
Het |
| Irx4 |
G |
C |
13: 73,413,658 (GRCm39) |
A43P |
probably benign |
Het |
| Itk |
A |
G |
11: 46,228,938 (GRCm39) |
V414A |
probably benign |
Het |
| Itsn2 |
A |
T |
12: 4,703,535 (GRCm39) |
I744L |
probably benign |
Het |
| Kdm5b |
G |
A |
1: 134,549,836 (GRCm39) |
|
probably null |
Het |
| Kif14 |
A |
G |
1: 136,431,062 (GRCm39) |
D1153G |
probably benign |
Het |
| Morc3 |
A |
G |
16: 93,659,427 (GRCm39) |
|
probably null |
Het |
| Mplkipl1 |
C |
T |
19: 61,164,364 (GRCm39) |
G24R |
unknown |
Het |
| Msc |
A |
T |
1: 14,825,780 (GRCm39) |
C65S |
probably benign |
Het |
| Mybpc1 |
A |
G |
10: 88,358,876 (GRCm39) |
V343A |
probably damaging |
Het |
| Myo5c |
T |
C |
9: 75,195,356 (GRCm39) |
I1218T |
possibly damaging |
Het |
| Mypn |
C |
T |
10: 62,955,965 (GRCm39) |
V1163I |
probably benign |
Het |
| Obox3 |
A |
T |
7: 15,360,213 (GRCm39) |
M152K |
probably benign |
Het |
| Or1e16 |
AGCGGTCGTAGGC |
AGC |
11: 73,286,480 (GRCm39) |
|
probably null |
Het |
| Or2t47 |
A |
G |
11: 58,442,969 (GRCm39) |
V32A |
probably benign |
Het |
| Or4c106 |
T |
A |
2: 88,682,999 (GRCm39) |
L235H |
probably damaging |
Het |
| Or4c3 |
T |
A |
2: 89,852,267 (GRCm39) |
T48S |
probably benign |
Het |
| Pcdhb21 |
G |
T |
18: 37,648,772 (GRCm39) |
V634L |
probably benign |
Het |
| Ppp1r9b |
G |
A |
11: 94,882,974 (GRCm39) |
A201T |
probably benign |
Het |
| Pramel25 |
T |
C |
4: 143,521,602 (GRCm39) |
F406S |
probably benign |
Het |
| Prss23 |
A |
T |
7: 89,159,174 (GRCm39) |
D298E |
probably benign |
Het |
| Rab4b |
A |
T |
7: 26,875,587 (GRCm39) |
N31K |
probably benign |
Het |
| Ros1 |
A |
G |
10: 51,967,040 (GRCm39) |
|
probably null |
Het |
| Rragb |
G |
A |
X: 151,923,550 (GRCm39) |
G24E |
probably damaging |
Het |
| Rtl1 |
A |
T |
12: 109,556,736 (GRCm39) |
L1701Q |
probably damaging |
Het |
| Sbno1 |
T |
A |
5: 124,530,804 (GRCm39) |
N831Y |
probably benign |
Het |
| Selp |
A |
G |
1: 163,954,155 (GRCm39) |
K152E |
possibly damaging |
Het |
| Sema4b |
A |
G |
7: 79,874,634 (GRCm39) |
T675A |
probably benign |
Het |
| Slc36a3 |
T |
C |
11: 55,037,006 (GRCm39) |
I100V |
possibly damaging |
Het |
| Slco1a4 |
T |
A |
6: 141,776,433 (GRCm39) |
I196F |
probably damaging |
Het |
| Spata13 |
G |
A |
14: 60,984,990 (GRCm39) |
S828N |
probably benign |
Het |
| Tll1 |
T |
C |
8: 64,538,522 (GRCm39) |
H374R |
probably damaging |
Het |
| Trmt10a |
T |
A |
3: 137,853,265 (GRCm39) |
I42K |
probably damaging |
Het |
| Trmu |
A |
T |
15: 85,780,609 (GRCm39) |
|
probably null |
Het |
| Trp53 |
T |
A |
11: 69,479,372 (GRCm39) |
D183E |
probably benign |
Het |
| Ttc22 |
T |
G |
4: 106,493,954 (GRCm39) |
F305V |
probably damaging |
Het |
| Unc13c |
A |
G |
9: 73,656,970 (GRCm39) |
F1077S |
possibly damaging |
Het |
| Utrn |
T |
A |
10: 12,516,727 (GRCm39) |
Q2289L |
probably damaging |
Het |
| Vmn1r65 |
C |
A |
7: 6,011,809 (GRCm39) |
E142* |
probably null |
Het |
| Vmn2r63 |
A |
T |
7: 42,577,701 (GRCm39) |
V279D |
probably benign |
Het |
| Zfp810 |
G |
A |
9: 22,190,125 (GRCm39) |
T261I |
possibly damaging |
Het |
| Zkscan17 |
A |
G |
11: 59,393,744 (GRCm39) |
|
probably null |
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 |
|
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'- GACAAGGAACACTCACTTTGGG -3'
(R):5'- GCAGCCACTTTGCTCTAAGTAC -3'
Sequencing Primer
(F):5'- GAACACTCACTTTGGGGAGCTTTC -3'
(R):5'- GTACCTCCAGGACACTCAGATGG -3'
|
| Posted On |
2017-06-23 |
Incidental Mutation