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 |
Incidental Mutation