Incidental Mutation 'R5134:Fabp3'
ID |
396030 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Fabp3
|
Ensembl Gene |
ENSMUSG00000028773 |
Gene Name |
fatty acid binding protein 3, muscle and heart |
Synonyms |
Fabph-1, Fabp3, Fabph4, H-FABP, Mdgi, Fabph1, Fabph-4 |
MMRRC Submission |
042722-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R5134 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
4 |
Chromosomal Location |
130202531-130209256 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 130206180 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Isoleucine
at position 57
(T57I)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000070709
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000070532]
[ENSMUST00000097865]
[ENSMUST00000134159]
|
AlphaFold |
P11404 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000070532
AA Change: T57I
PolyPhen 2
Score 0.208 (Sensitivity: 0.92; Specificity: 0.88)
|
SMART Domains |
Protein: ENSMUSP00000070709 Gene: ENSMUSG00000028773 AA Change: T57I
Domain | Start | End | E-Value | Type |
Pfam:Lipocalin_7
|
3 |
133 |
3.2e-13 |
PFAM |
Pfam:Lipocalin
|
6 |
132 |
4.5e-32 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000097865
|
SMART Domains |
Protein: ENSMUSP00000095477 Gene: ENSMUSG00000073752
Domain | Start | End | E-Value | Type |
low complexity region
|
20 |
34 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000134159
|
SMART Domains |
Protein: ENSMUSP00000120807 Gene: ENSMUSG00000028772
Domain | Start | End | E-Value | Type |
S1
|
14 |
86 |
4.47e-11 |
SMART |
ZnF_C2HC
|
132 |
148 |
4.56e-1 |
SMART |
low complexity region
|
160 |
171 |
N/A |
INTRINSIC |
low complexity region
|
182 |
211 |
N/A |
INTRINSIC |
low complexity region
|
227 |
240 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000141615
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000149755
|
Meta Mutation Damage Score |
0.7568 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.7%
- 20x: 93.5%
|
Validation Efficiency |
96% (100/104) |
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The intracellular fatty acid-binding proteins (FABPs) belongs to a multigene family. FABPs are divided into at least three distinct types, namely the hepatic-, intestinal- and cardiac-type. They form 14-15 kDa proteins and are thought to participate in the uptake, intracellular metabolism and/or transport of long-chain fatty acids. They may also be responsible in the modulation of cell growth and proliferation. Fatty acid-binding protein 3 gene contains four exons and its function is to arrest growth of mammary epithelial cells. This gene is a candidate tumor suppressor gene for human breast cancer. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2016] PHENOTYPE: Inactivation of this locus results in impaired fatty acid utilization. Homozygous null mice show exercise intolerance and cardiac hypertrophy. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 89 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adarb1 |
T |
A |
10: 77,161,679 (GRCm39) |
|
probably benign |
Het |
Adrb3 |
A |
C |
8: 27,717,798 (GRCm39) |
M217R |
probably damaging |
Het |
Ank2 |
A |
T |
3: 126,757,094 (GRCm39) |
N1054K |
possibly damaging |
Het |
Aox4 |
A |
T |
1: 58,275,835 (GRCm39) |
D389V |
probably benign |
Het |
Aph1a |
G |
T |
3: 95,802,843 (GRCm39) |
G148W |
probably damaging |
Het |
Arsj |
A |
G |
3: 126,231,803 (GRCm39) |
D183G |
probably benign |
Het |
Atg2b |
A |
G |
12: 105,641,209 (GRCm39) |
S76P |
probably damaging |
Het |
Atxn7l1 |
C |
A |
12: 33,422,875 (GRCm39) |
N815K |
probably damaging |
Het |
Cd3d |
A |
T |
9: 44,896,296 (GRCm39) |
E28D |
probably damaging |
Het |
Cir1 |
G |
A |
2: 73,114,847 (GRCm39) |
R404* |
probably null |
Het |
Cops8 |
A |
G |
1: 90,538,724 (GRCm39) |
D51G |
probably damaging |
Het |
Csgalnact1 |
T |
C |
8: 68,913,623 (GRCm39) |
E194G |
probably benign |
Het |
Cstf2t |
T |
A |
19: 31,061,494 (GRCm39) |
D343E |
probably damaging |
Het |
Ddx23 |
A |
T |
15: 98,548,651 (GRCm39) |
D352E |
possibly damaging |
Het |
Dhx34 |
G |
T |
7: 15,952,175 (GRCm39) |
A150D |
possibly damaging |
Het |
Dnal4 |
A |
T |
15: 79,647,766 (GRCm39) |
V32E |
possibly damaging |
Het |
Dvl3 |
G |
T |
16: 20,343,357 (GRCm39) |
|
probably benign |
Het |
Ehmt1 |
G |
T |
2: 24,767,509 (GRCm39) |
P135T |
probably damaging |
Het |
Enpp2 |
C |
T |
15: 54,762,726 (GRCm39) |
R174H |
probably damaging |
Het |
Eps15 |
G |
A |
4: 109,223,727 (GRCm39) |
|
probably benign |
Het |
F10 |
T |
C |
8: 13,105,698 (GRCm39) |
V421A |
probably damaging |
Het |
Fer1l6 |
A |
T |
15: 58,512,003 (GRCm39) |
D1490V |
probably damaging |
Het |
Fsd1l |
A |
G |
4: 53,647,766 (GRCm39) |
K70E |
probably benign |
Het |
Galnt12 |
G |
A |
4: 47,113,818 (GRCm39) |
A79T |
probably damaging |
Het |
Galnt17 |
A |
T |
5: 130,992,873 (GRCm39) |
M347K |
probably damaging |
Het |
Glyatl3 |
A |
G |
17: 41,215,921 (GRCm39) |
V195A |
probably benign |
Het |
Gm10770 |
A |
T |
2: 150,021,480 (GRCm39) |
|
probably null |
Het |
Gm5578 |
A |
T |
6: 112,583,046 (GRCm39) |
|
noncoding transcript |
Het |
Grn |
C |
A |
11: 102,321,380 (GRCm39) |
|
probably benign |
Het |
Gsk3b |
G |
A |
16: 38,060,882 (GRCm39) |
R418H |
probably damaging |
Het |
Hspa12b |
A |
G |
2: 130,981,428 (GRCm39) |
E221G |
possibly damaging |
Het |
Ighv1-50 |
T |
G |
12: 115,083,653 (GRCm39) |
Q22H |
probably benign |
Het |
Ipcef1 |
A |
G |
10: 6,869,950 (GRCm39) |
I150T |
probably benign |
Het |
Ipp |
T |
A |
4: 116,372,654 (GRCm39) |
F228I |
possibly damaging |
Het |
Itgb7 |
A |
G |
15: 102,125,842 (GRCm39) |
C596R |
probably damaging |
Het |
Kif27 |
T |
C |
13: 58,438,904 (GRCm39) |
D1219G |
possibly damaging |
Het |
Lats1 |
T |
A |
10: 7,567,575 (GRCm39) |
D115E |
probably benign |
Het |
Lpcat3 |
A |
G |
6: 124,679,493 (GRCm39) |
N331S |
probably benign |
Het |
Lrpprc |
A |
T |
17: 85,058,684 (GRCm39) |
N725K |
probably benign |
Het |
Lss |
T |
G |
10: 76,382,070 (GRCm39) |
|
probably benign |
Het |
Mfsd6 |
T |
C |
1: 52,747,515 (GRCm39) |
Y450C |
possibly damaging |
Het |
Mmp21 |
A |
T |
7: 133,280,742 (GRCm39) |
V76E |
probably benign |
Het |
Mtmr11 |
A |
T |
3: 96,077,223 (GRCm39) |
Y527F |
probably damaging |
Het |
Nat10 |
A |
T |
2: 103,573,638 (GRCm39) |
F327I |
probably benign |
Het |
Nfkbiz |
A |
T |
16: 55,638,863 (GRCm39) |
M199K |
probably damaging |
Het |
Nuak1 |
A |
G |
10: 84,210,214 (GRCm39) |
Y625H |
probably benign |
Het |
Odf1 |
A |
G |
15: 38,226,393 (GRCm39) |
T98A |
possibly damaging |
Het |
Oprl1 |
T |
A |
2: 181,360,403 (GRCm39) |
I153N |
probably damaging |
Het |
Or10g3b |
T |
C |
14: 52,587,248 (GRCm39) |
N85S |
probably benign |
Het |
Or1j4 |
A |
T |
2: 36,740,488 (GRCm39) |
L143F |
probably benign |
Het |
Or4x13 |
T |
A |
2: 90,231,107 (GRCm39) |
M34K |
probably benign |
Het |
Osbpl8 |
T |
A |
10: 111,124,554 (GRCm39) |
D705E |
probably benign |
Het |
Otud4 |
G |
A |
8: 80,382,318 (GRCm39) |
V176I |
probably damaging |
Het |
Paics |
T |
C |
5: 77,104,669 (GRCm39) |
|
probably benign |
Het |
Pax5 |
A |
G |
4: 44,710,407 (GRCm39) |
M1T |
probably null |
Het |
Pck1 |
A |
T |
2: 172,995,282 (GRCm39) |
N34I |
probably benign |
Het |
Pde8b |
T |
C |
13: 95,223,250 (GRCm39) |
I335V |
probably benign |
Het |
Piezo2 |
A |
G |
18: 63,207,691 (GRCm39) |
V1440A |
probably damaging |
Het |
Prr23a4 |
T |
C |
9: 98,785,793 (GRCm39) |
S153P |
probably benign |
Het |
Ptpre |
T |
A |
7: 135,253,821 (GRCm39) |
F83Y |
probably damaging |
Het |
Pwwp3a |
T |
C |
10: 80,068,702 (GRCm39) |
L282P |
probably benign |
Het |
Rassf6 |
T |
A |
5: 90,752,225 (GRCm39) |
|
probably null |
Het |
Rilp |
A |
T |
11: 75,403,534 (GRCm39) |
L325F |
probably damaging |
Het |
Rpf1 |
A |
G |
3: 146,212,293 (GRCm39) |
L349S |
probably damaging |
Het |
Rprd2 |
G |
C |
3: 95,672,632 (GRCm39) |
R924G |
probably benign |
Het |
Rps6kc1 |
T |
A |
1: 190,505,845 (GRCm39) |
D1039V |
probably damaging |
Het |
Rufy3 |
G |
A |
5: 88,793,426 (GRCm39) |
V579I |
probably benign |
Het |
Serpinc1 |
A |
G |
1: 160,825,140 (GRCm39) |
|
probably null |
Het |
Siae |
T |
G |
9: 37,557,816 (GRCm39) |
I541S |
possibly damaging |
Het |
St14 |
T |
G |
9: 31,006,879 (GRCm39) |
D649A |
probably benign |
Het |
Stab2 |
A |
G |
10: 86,707,674 (GRCm39) |
|
probably null |
Het |
Sun3 |
T |
C |
11: 8,988,287 (GRCm39) |
T12A |
probably benign |
Het |
Tdrd6 |
A |
G |
17: 43,937,101 (GRCm39) |
Y1316H |
probably damaging |
Het |
Thbs3 |
CAGAAG |
CAG |
3: 89,130,409 (GRCm39) |
|
probably benign |
Het |
Tmem161b |
C |
A |
13: 84,442,887 (GRCm39) |
T269K |
possibly damaging |
Het |
Trav14-3 |
T |
A |
14: 54,000,701 (GRCm39) |
S17T |
unknown |
Het |
Trmu |
T |
A |
15: 85,780,556 (GRCm39) |
|
probably null |
Het |
Ttn |
T |
A |
2: 76,537,586 (GRCm39) |
T26454S |
possibly damaging |
Het |
Ubr3 |
T |
C |
2: 69,850,790 (GRCm39) |
|
probably benign |
Het |
Unc5b |
A |
T |
10: 60,610,879 (GRCm39) |
V376E |
probably benign |
Het |
Usp3 |
T |
C |
9: 66,449,814 (GRCm39) |
S166G |
possibly damaging |
Het |
Vldlr |
C |
A |
19: 27,216,212 (GRCm39) |
C344* |
probably null |
Het |
Vmn1r17 |
A |
G |
6: 57,337,828 (GRCm39) |
V130A |
probably benign |
Het |
Wdfy3 |
A |
C |
5: 102,091,969 (GRCm39) |
Y457D |
probably damaging |
Het |
Zbtb2 |
T |
C |
10: 4,319,267 (GRCm39) |
Y253C |
possibly damaging |
Het |
Zfp687 |
A |
C |
3: 94,917,697 (GRCm39) |
F692V |
probably damaging |
Het |
Zfp758 |
A |
G |
17: 22,594,386 (GRCm39) |
K291E |
probably damaging |
Het |
Zfp799 |
A |
T |
17: 33,039,415 (GRCm39) |
C284S |
probably damaging |
Het |
Zp1 |
C |
A |
19: 10,897,926 (GRCm39) |
C5F |
probably benign |
Het |
|
Other mutations in Fabp3 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
cardio
|
UTSW |
4 |
130,206,180 (GRCm39) |
missense |
probably benign |
0.21 |
R1111:Fabp3
|
UTSW |
4 |
130,206,180 (GRCm39) |
missense |
probably benign |
0.21 |
R1112:Fabp3
|
UTSW |
4 |
130,206,180 (GRCm39) |
missense |
probably benign |
0.21 |
R1114:Fabp3
|
UTSW |
4 |
130,206,180 (GRCm39) |
missense |
probably benign |
0.21 |
R1116:Fabp3
|
UTSW |
4 |
130,206,180 (GRCm39) |
missense |
probably benign |
0.21 |
R1144:Fabp3
|
UTSW |
4 |
130,206,180 (GRCm39) |
missense |
probably benign |
0.21 |
R1146:Fabp3
|
UTSW |
4 |
130,206,180 (GRCm39) |
missense |
probably benign |
0.21 |
R1146:Fabp3
|
UTSW |
4 |
130,206,180 (GRCm39) |
missense |
probably benign |
0.21 |
R1147:Fabp3
|
UTSW |
4 |
130,206,180 (GRCm39) |
missense |
probably benign |
0.21 |
R1147:Fabp3
|
UTSW |
4 |
130,206,180 (GRCm39) |
missense |
probably benign |
0.21 |
R1460:Fabp3
|
UTSW |
4 |
130,206,180 (GRCm39) |
missense |
probably benign |
0.21 |
R1505:Fabp3
|
UTSW |
4 |
130,206,180 (GRCm39) |
missense |
probably benign |
0.21 |
R1506:Fabp3
|
UTSW |
4 |
130,206,180 (GRCm39) |
missense |
probably benign |
0.21 |
R1508:Fabp3
|
UTSW |
4 |
130,206,180 (GRCm39) |
missense |
probably benign |
0.21 |
R1509:Fabp3
|
UTSW |
4 |
130,206,180 (GRCm39) |
missense |
probably benign |
0.21 |
R1582:Fabp3
|
UTSW |
4 |
130,206,180 (GRCm39) |
missense |
probably benign |
0.21 |
R1601:Fabp3
|
UTSW |
4 |
130,202,641 (GRCm39) |
missense |
probably benign |
0.24 |
R1612:Fabp3
|
UTSW |
4 |
130,206,180 (GRCm39) |
missense |
probably benign |
0.21 |
R1641:Fabp3
|
UTSW |
4 |
130,206,180 (GRCm39) |
missense |
probably benign |
0.21 |
R1664:Fabp3
|
UTSW |
4 |
130,206,180 (GRCm39) |
missense |
probably benign |
0.21 |
R1670:Fabp3
|
UTSW |
4 |
130,206,180 (GRCm39) |
missense |
probably benign |
0.21 |
R1686:Fabp3
|
UTSW |
4 |
130,206,180 (GRCm39) |
missense |
probably benign |
0.21 |
R1690:Fabp3
|
UTSW |
4 |
130,206,180 (GRCm39) |
missense |
probably benign |
0.21 |
R1709:Fabp3
|
UTSW |
4 |
130,206,180 (GRCm39) |
missense |
probably benign |
0.21 |
R1854:Fabp3
|
UTSW |
4 |
130,206,180 (GRCm39) |
missense |
probably benign |
0.21 |
R1855:Fabp3
|
UTSW |
4 |
130,206,180 (GRCm39) |
missense |
probably benign |
0.21 |
R1935:Fabp3
|
UTSW |
4 |
130,206,180 (GRCm39) |
missense |
probably benign |
0.21 |
R2107:Fabp3
|
UTSW |
4 |
130,206,180 (GRCm39) |
missense |
probably benign |
0.21 |
R2208:Fabp3
|
UTSW |
4 |
130,206,180 (GRCm39) |
missense |
probably benign |
0.21 |
R2211:Fabp3
|
UTSW |
4 |
130,206,180 (GRCm39) |
missense |
probably benign |
0.21 |
R2392:Fabp3
|
UTSW |
4 |
130,206,180 (GRCm39) |
missense |
probably benign |
0.21 |
R2393:Fabp3
|
UTSW |
4 |
130,206,180 (GRCm39) |
missense |
probably benign |
0.21 |
R2829:Fabp3
|
UTSW |
4 |
130,206,180 (GRCm39) |
missense |
probably benign |
0.21 |
R2830:Fabp3
|
UTSW |
4 |
130,206,180 (GRCm39) |
missense |
probably benign |
0.21 |
R2831:Fabp3
|
UTSW |
4 |
130,206,180 (GRCm39) |
missense |
probably benign |
0.21 |
R2901:Fabp3
|
UTSW |
4 |
130,206,180 (GRCm39) |
missense |
probably benign |
0.21 |
R2964:Fabp3
|
UTSW |
4 |
130,206,180 (GRCm39) |
missense |
probably benign |
0.21 |
R2975:Fabp3
|
UTSW |
4 |
130,206,180 (GRCm39) |
missense |
probably benign |
0.21 |
R2979:Fabp3
|
UTSW |
4 |
130,206,180 (GRCm39) |
missense |
probably benign |
0.21 |
R2980:Fabp3
|
UTSW |
4 |
130,206,180 (GRCm39) |
missense |
probably benign |
0.21 |
R2981:Fabp3
|
UTSW |
4 |
130,206,180 (GRCm39) |
missense |
probably benign |
0.21 |
R2982:Fabp3
|
UTSW |
4 |
130,206,180 (GRCm39) |
missense |
probably benign |
0.21 |
R2983:Fabp3
|
UTSW |
4 |
130,206,180 (GRCm39) |
missense |
probably benign |
0.21 |
R3430:Fabp3
|
UTSW |
4 |
130,206,180 (GRCm39) |
missense |
probably benign |
0.21 |
R3612:Fabp3
|
UTSW |
4 |
130,206,180 (GRCm39) |
missense |
probably benign |
0.21 |
R3613:Fabp3
|
UTSW |
4 |
130,206,180 (GRCm39) |
missense |
probably benign |
0.21 |
R3614:Fabp3
|
UTSW |
4 |
130,206,180 (GRCm39) |
missense |
probably benign |
0.21 |
R3755:Fabp3
|
UTSW |
4 |
130,206,180 (GRCm39) |
missense |
probably benign |
0.21 |
R3756:Fabp3
|
UTSW |
4 |
130,206,180 (GRCm39) |
missense |
probably benign |
0.21 |
R3825:Fabp3
|
UTSW |
4 |
130,206,245 (GRCm39) |
splice site |
probably null |
|
R3842:Fabp3
|
UTSW |
4 |
130,206,180 (GRCm39) |
missense |
probably benign |
0.21 |
R4012:Fabp3
|
UTSW |
4 |
130,206,180 (GRCm39) |
missense |
probably benign |
0.21 |
R4280:Fabp3
|
UTSW |
4 |
130,206,245 (GRCm39) |
splice site |
probably null |
|
R4282:Fabp3
|
UTSW |
4 |
130,206,245 (GRCm39) |
splice site |
probably null |
|
R4405:Fabp3
|
UTSW |
4 |
130,206,180 (GRCm39) |
missense |
probably benign |
0.21 |
R4406:Fabp3
|
UTSW |
4 |
130,206,180 (GRCm39) |
missense |
probably benign |
0.21 |
R4466:Fabp3
|
UTSW |
4 |
130,206,180 (GRCm39) |
missense |
probably benign |
0.21 |
R4503:Fabp3
|
UTSW |
4 |
130,206,245 (GRCm39) |
splice site |
probably null |
|
R4547:Fabp3
|
UTSW |
4 |
130,206,245 (GRCm39) |
splice site |
probably null |
|
R4548:Fabp3
|
UTSW |
4 |
130,206,245 (GRCm39) |
splice site |
probably null |
|
R4671:Fabp3
|
UTSW |
4 |
130,206,180 (GRCm39) |
missense |
probably benign |
0.21 |
R4681:Fabp3
|
UTSW |
4 |
130,206,180 (GRCm39) |
missense |
probably benign |
0.21 |
R4710:Fabp3
|
UTSW |
4 |
130,206,180 (GRCm39) |
missense |
probably benign |
0.21 |
R4743:Fabp3
|
UTSW |
4 |
130,206,180 (GRCm39) |
missense |
probably benign |
0.21 |
R4850:Fabp3
|
UTSW |
4 |
130,206,180 (GRCm39) |
missense |
probably benign |
0.21 |
R4989:Fabp3
|
UTSW |
4 |
130,206,180 (GRCm39) |
missense |
probably benign |
0.21 |
R5015:Fabp3
|
UTSW |
4 |
130,206,180 (GRCm39) |
missense |
probably benign |
0.21 |
R5133:Fabp3
|
UTSW |
4 |
130,206,180 (GRCm39) |
missense |
probably benign |
0.21 |
R5549:Fabp3
|
UTSW |
4 |
130,209,018 (GRCm39) |
makesense |
probably null |
|
R5884:Fabp3
|
UTSW |
4 |
130,206,131 (GRCm39) |
missense |
probably benign |
0.01 |
R7170:Fabp3
|
UTSW |
4 |
130,207,763 (GRCm39) |
missense |
probably benign |
0.06 |
R7967:Fabp3
|
UTSW |
4 |
130,207,781 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Predicted Primers |
PCR Primer
(F):5'- GCCTAGGCCACAAACTTCTC -3'
(R):5'- ATACTTAGTCCCTGGGCCATCG -3'
Sequencing Primer
(F):5'- AGGCCACAAACTTCTCTTTGGG -3'
(R):5'- CACTGAGCAGGCTTTATGAACCTG -3'
|
Posted On |
2016-06-21 |