Incidental Mutation 'R7170:Fabp3'
ID |
558177 |
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 |
045332-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R7170 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
4 |
Chromosomal Location |
130202531-130209256 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 130207763 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Glycine
at position 88
(D88G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000070709
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000070532]
[ENSMUST00000134159]
|
AlphaFold |
P11404 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000070532
AA Change: D88G
PolyPhen 2
Score 0.056 (Sensitivity: 0.94; Specificity: 0.84)
|
SMART Domains |
Protein: ENSMUSP00000070709 Gene: ENSMUSG00000028773 AA Change: D88G
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: 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 |
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.0%
|
Validation Efficiency |
100% (81/81) |
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: 79 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca8b |
T |
C |
11: 109,836,654 (GRCm39) |
T1214A |
probably benign |
Het |
Acte1 |
T |
C |
7: 143,450,102 (GRCm39) |
S285P |
probably damaging |
Het |
Adgrf5 |
G |
A |
17: 43,757,029 (GRCm39) |
V708M |
possibly damaging |
Het |
Akap9 |
C |
G |
5: 4,018,745 (GRCm39) |
H1109D |
probably benign |
Het |
Ankrd7 |
T |
A |
6: 18,868,389 (GRCm39) |
Y170* |
probably null |
Het |
Aplp2 |
T |
C |
9: 31,081,739 (GRCm39) |
D236G |
probably benign |
Het |
Apoa5 |
T |
C |
9: 46,181,437 (GRCm39) |
M171T |
probably benign |
Het |
Bcas3 |
T |
C |
11: 85,386,744 (GRCm39) |
V393A |
probably damaging |
Het |
Ccdc47 |
T |
C |
11: 106,093,304 (GRCm39) |
N370S |
probably benign |
Het |
Cfap77 |
A |
T |
2: 28,875,854 (GRCm39) |
Y85* |
probably null |
Het |
Col4a3 |
G |
A |
1: 82,693,630 (GRCm39) |
|
probably null |
Het |
Crnn |
T |
A |
3: 93,056,020 (GRCm39) |
S269T |
possibly damaging |
Het |
Crocc2 |
G |
A |
1: 93,121,704 (GRCm39) |
A618T |
possibly damaging |
Het |
D030056L22Rik |
A |
G |
19: 18,690,737 (GRCm39) |
K17R |
possibly damaging |
Het |
Emx1 |
G |
A |
6: 85,164,983 (GRCm39) |
G20D |
probably benign |
Het |
Fam124a |
A |
C |
14: 62,824,629 (GRCm39) |
D41A |
probably damaging |
Het |
Fanca |
T |
C |
8: 123,997,945 (GRCm39) |
E1247G |
probably damaging |
Het |
Fat3 |
T |
C |
9: 15,917,870 (GRCm39) |
R1518G |
probably damaging |
Het |
Fgf12 |
T |
C |
16: 28,263,931 (GRCm39) |
I5V |
probably benign |
Het |
Fscn2 |
C |
A |
11: 120,253,335 (GRCm39) |
N267K |
probably damaging |
Het |
Ftdc1 |
G |
T |
16: 58,436,091 (GRCm39) |
C77* |
probably null |
Het |
Fubp3 |
A |
G |
2: 31,488,632 (GRCm39) |
T163A |
probably benign |
Het |
Gask1a |
G |
T |
9: 121,807,301 (GRCm39) |
A482S |
probably damaging |
Het |
Gne |
A |
G |
4: 44,040,361 (GRCm39) |
L601P |
possibly damaging |
Het |
Gphn |
T |
C |
12: 78,730,663 (GRCm39) |
V766A |
possibly damaging |
Het |
Hsf1 |
G |
T |
15: 76,384,221 (GRCm39) |
G402C |
probably damaging |
Het |
Ift81 |
A |
T |
5: 122,693,596 (GRCm39) |
Y604* |
probably null |
Het |
Iqgap3 |
T |
A |
3: 88,009,370 (GRCm39) |
I768N |
probably damaging |
Het |
Kazald1 |
A |
T |
19: 45,066,855 (GRCm39) |
D218V |
probably benign |
Het |
Kmt2a |
T |
C |
9: 44,722,018 (GRCm39) |
N3776D |
unknown |
Het |
Ktn1 |
T |
C |
14: 47,943,867 (GRCm39) |
L872S |
probably damaging |
Het |
Lama3 |
T |
G |
18: 12,537,133 (GRCm39) |
F259L |
probably benign |
Het |
Mfsd6 |
A |
G |
1: 52,701,547 (GRCm39) |
|
probably null |
Het |
Mical3 |
A |
T |
6: 120,950,694 (GRCm39) |
|
probably null |
Het |
Mob3b |
A |
G |
4: 35,083,839 (GRCm39) |
Y117H |
probably damaging |
Het |
Mrpl2 |
G |
A |
17: 46,959,181 (GRCm39) |
G95D |
probably damaging |
Het |
Mstn |
A |
T |
1: 53,105,554 (GRCm39) |
I299F |
probably damaging |
Het |
Mta3 |
C |
T |
17: 84,022,091 (GRCm39) |
R49W |
probably damaging |
Het |
Mylk3 |
A |
G |
8: 86,077,114 (GRCm39) |
F574L |
probably damaging |
Het |
Naca |
T |
A |
10: 127,875,990 (GRCm39) |
S341T |
unknown |
Het |
Ncoa1 |
T |
C |
12: 4,299,722 (GRCm39) |
D1401G |
probably benign |
Het |
Nedd4 |
T |
A |
9: 72,577,381 (GRCm39) |
Y69N |
probably benign |
Het |
Nin |
T |
C |
12: 70,091,013 (GRCm39) |
T801A |
|
Het |
Nsd1 |
T |
A |
13: 55,409,439 (GRCm39) |
L1336* |
probably null |
Het |
Nudt16l2 |
C |
A |
9: 105,020,600 (GRCm39) |
|
probably null |
Het |
Oprk1 |
G |
A |
1: 5,672,619 (GRCm39) |
R252H |
probably damaging |
Het |
Or4c10b |
A |
T |
2: 89,711,397 (GRCm39) |
T76S |
possibly damaging |
Het |
Or4c10b |
A |
G |
2: 89,711,185 (GRCm39) |
N5S |
probably benign |
Het |
Or5w15 |
C |
T |
2: 87,568,056 (GRCm39) |
G204D |
probably damaging |
Het |
Pcdhga11 |
T |
C |
18: 37,889,717 (GRCm39) |
F242L |
probably damaging |
Het |
Pof1b |
A |
G |
X: 111,554,042 (GRCm39) |
I544T |
probably benign |
Het |
Pold1 |
T |
C |
7: 44,191,572 (GRCm39) |
H138R |
possibly damaging |
Het |
Ptprd |
A |
T |
4: 75,990,199 (GRCm39) |
D504E |
probably benign |
Het |
Rabgap1l |
A |
G |
1: 160,472,935 (GRCm39) |
V501A |
probably damaging |
Het |
Rimklb |
T |
C |
6: 122,429,697 (GRCm39) |
N233S |
probably benign |
Het |
Rnf213 |
A |
G |
11: 119,343,401 (GRCm39) |
I3589V |
|
Het |
Rora |
T |
A |
9: 69,280,472 (GRCm39) |
C348* |
probably null |
Het |
Sdhaf3 |
T |
C |
6: 6,956,043 (GRCm39) |
V6A |
probably benign |
Het |
Serpina3m |
T |
A |
12: 104,355,777 (GRCm39) |
L148Q |
probably damaging |
Het |
Sik1 |
T |
C |
17: 32,067,746 (GRCm39) |
D443G |
possibly damaging |
Het |
Sim2 |
A |
G |
16: 93,923,559 (GRCm39) |
T366A |
probably benign |
Het |
Slc32a1 |
T |
C |
2: 158,453,243 (GRCm39) |
F28L |
probably damaging |
Het |
Sorbs1 |
A |
T |
19: 40,314,573 (GRCm39) |
Y746* |
probably null |
Het |
Speer4b |
T |
A |
5: 27,703,821 (GRCm39) |
N106I |
possibly damaging |
Het |
Sphkap |
A |
G |
1: 83,243,706 (GRCm39) |
S1269P |
probably damaging |
Het |
Tcf4 |
T |
C |
18: 69,766,649 (GRCm39) |
V205A |
probably damaging |
Het |
Thsd7a |
C |
T |
6: 12,352,090 (GRCm39) |
R1035H |
|
Het |
Tmprss11c |
A |
T |
5: 86,385,478 (GRCm39) |
|
probably null |
Het |
Trim50 |
A |
G |
5: 135,396,365 (GRCm39) |
T438A |
probably benign |
Het |
Ttc21a |
C |
T |
9: 119,774,607 (GRCm39) |
P287L |
probably damaging |
Het |
Ttc41 |
C |
T |
10: 86,549,367 (GRCm39) |
S187L |
probably benign |
Het |
Ttll3 |
C |
T |
6: 113,390,839 (GRCm39) |
P807L |
probably benign |
Het |
Ttn |
A |
C |
2: 76,597,696 (GRCm39) |
V19739G |
probably benign |
Het |
Usp15 |
C |
A |
10: 123,007,100 (GRCm39) |
C127F |
probably damaging |
Het |
Vmn2r100 |
G |
T |
17: 19,752,233 (GRCm39) |
A822S |
probably benign |
Het |
Zan |
A |
T |
5: 137,461,756 (GRCm39) |
V1141D |
unknown |
Het |
Zfp457 |
A |
T |
13: 67,442,241 (GRCm39) |
C111* |
probably null |
Het |
Zfp758 |
C |
T |
17: 22,594,116 (GRCm39) |
Q201* |
probably null |
Het |
Zkscan2 |
T |
C |
7: 123,099,030 (GRCm39) |
E54G |
possibly damaging |
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 |
R5134: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 |
R7967:Fabp3
|
UTSW |
4 |
130,207,781 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Predicted Primers |
PCR Primer
(F):5'- CAATATATCAAGGCTGAGCTGC -3'
(R):5'- ATGCTTGAACCAAGACCTGTG -3'
Sequencing Primer
(F):5'- TGAGCTGCCTGCCATGC -3'
(R):5'- TGTGTAAATCCACAGCCAGG -3'
|
Posted On |
2019-06-26 |