Incidental Mutation 'R1460:Fabp3'
ID |
162049 |
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 |
039515-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R1460 (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: 98.9%
- 3x: 98.0%
- 10x: 95.2%
- 20x: 89.1%
|
Validation Efficiency |
94% (93/99) |
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: 96 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4930522H14Rik |
A |
T |
4: 109,388,407 (GRCm39) |
|
probably null |
Het |
Abcb11 |
A |
G |
2: 69,087,718 (GRCm39) |
|
probably benign |
Het |
Abi3bp |
T |
C |
16: 56,382,780 (GRCm39) |
V130A |
probably damaging |
Het |
Adamts4 |
A |
G |
1: 171,084,009 (GRCm39) |
|
probably benign |
Het |
Adgrd1 |
A |
G |
5: 129,199,627 (GRCm39) |
T155A |
possibly damaging |
Het |
Ano3 |
A |
T |
2: 110,513,103 (GRCm39) |
S631T |
probably damaging |
Het |
Ass1 |
G |
A |
2: 31,404,753 (GRCm39) |
V345I |
probably benign |
Het |
Atg7 |
G |
A |
6: 114,680,325 (GRCm39) |
A384T |
probably damaging |
Het |
Atp6v0a1 |
T |
A |
11: 100,924,824 (GRCm39) |
I303N |
probably damaging |
Het |
B3gntl1 |
T |
G |
11: 121,530,624 (GRCm39) |
Y149S |
probably damaging |
Het |
Btnl2 |
A |
G |
17: 34,585,424 (GRCm39) |
D475G |
probably benign |
Het |
Cdcp1 |
A |
T |
9: 123,009,092 (GRCm39) |
S529T |
possibly damaging |
Het |
Cenpt |
A |
G |
8: 106,575,520 (GRCm39) |
L194P |
probably damaging |
Het |
Cfhr4 |
T |
A |
1: 139,625,934 (GRCm39) |
I788F |
probably damaging |
Het |
Chmp4b |
A |
G |
2: 154,534,515 (GRCm39) |
D177G |
possibly damaging |
Het |
Chmp7 |
C |
T |
14: 69,956,899 (GRCm39) |
M336I |
probably benign |
Het |
Cish |
G |
T |
9: 107,177,596 (GRCm39) |
E91* |
probably null |
Het |
Col22a1 |
T |
C |
15: 71,693,780 (GRCm39) |
D740G |
unknown |
Het |
Cplane2 |
T |
C |
4: 140,945,523 (GRCm39) |
F125L |
probably damaging |
Het |
Crocc |
G |
A |
4: 140,756,551 (GRCm39) |
Q1025* |
probably null |
Het |
Ctrc |
C |
A |
4: 141,566,120 (GRCm39) |
|
probably benign |
Het |
Cyb5r2 |
T |
A |
7: 107,356,450 (GRCm39) |
D7V |
probably benign |
Het |
Dhx29 |
T |
C |
13: 113,101,744 (GRCm39) |
|
probably benign |
Het |
Dhx9 |
A |
C |
1: 153,341,426 (GRCm39) |
D607E |
probably benign |
Het |
Dnajb7 |
C |
T |
15: 81,291,888 (GRCm39) |
G150R |
probably benign |
Het |
Dnase1l3 |
T |
A |
14: 7,974,050 (GRCm38) |
T214S |
probably benign |
Het |
Dpm1 |
A |
T |
2: 168,052,549 (GRCm39) |
I229N |
probably damaging |
Het |
Dstn |
T |
C |
2: 143,780,408 (GRCm39) |
V36A |
possibly damaging |
Het |
Entpd1 |
T |
C |
19: 40,714,632 (GRCm39) |
V247A |
probably damaging |
Het |
Ephb3 |
C |
A |
16: 21,037,672 (GRCm39) |
H277Q |
probably benign |
Het |
Etl4 |
A |
T |
2: 20,793,288 (GRCm39) |
N671I |
probably damaging |
Het |
Fancd2os |
G |
A |
6: 113,574,973 (GRCm39) |
T11I |
probably damaging |
Het |
Fcrlb |
G |
T |
1: 170,739,853 (GRCm39) |
|
probably benign |
Het |
Fhip1a |
T |
C |
3: 85,638,183 (GRCm39) |
I39V |
probably damaging |
Het |
Gm9991 |
T |
C |
1: 90,606,780 (GRCm39) |
|
noncoding transcript |
Het |
Gstk1 |
C |
T |
6: 42,223,529 (GRCm39) |
R40W |
probably damaging |
Het |
Gstt1 |
C |
T |
10: 75,620,004 (GRCm39) |
V190M |
probably damaging |
Het |
Hectd2 |
G |
A |
19: 36,592,908 (GRCm39) |
W691* |
probably null |
Het |
Hecw2 |
T |
C |
1: 53,852,404 (GRCm39) |
T1572A |
probably damaging |
Het |
Hoxa5 |
T |
C |
6: 52,180,928 (GRCm39) |
T135A |
probably benign |
Het |
Igfl3 |
T |
A |
7: 17,913,880 (GRCm39) |
C77S |
possibly damaging |
Het |
Itgb4 |
A |
G |
11: 115,874,990 (GRCm39) |
D449G |
probably damaging |
Het |
Larp1b |
T |
C |
3: 40,916,653 (GRCm39) |
V11A |
probably benign |
Het |
Lhx9 |
A |
G |
1: 138,766,447 (GRCm39) |
|
probably benign |
Het |
Lig3 |
G |
T |
11: 82,686,624 (GRCm39) |
|
probably benign |
Het |
Lipo4 |
A |
C |
19: 33,476,718 (GRCm39) |
F343L |
probably benign |
Het |
Lyn |
T |
A |
4: 3,789,908 (GRCm39) |
Y480* |
probably null |
Het |
Mib2 |
C |
T |
4: 155,743,917 (GRCm39) |
G42S |
probably damaging |
Het |
Mill1 |
C |
A |
7: 17,996,595 (GRCm39) |
A137D |
probably damaging |
Het |
Mmut |
T |
C |
17: 41,248,266 (GRCm39) |
Y98H |
probably damaging |
Het |
Morc2a |
A |
T |
11: 3,633,794 (GRCm39) |
R635S |
probably benign |
Het |
Mpped2 |
A |
G |
2: 106,575,237 (GRCm39) |
|
probably benign |
Het |
Mug2 |
T |
C |
6: 122,017,492 (GRCm39) |
|
probably benign |
Het |
Mynn |
C |
A |
3: 30,657,853 (GRCm39) |
S57Y |
probably damaging |
Het |
Myo3b |
G |
A |
2: 70,062,798 (GRCm39) |
E333K |
probably benign |
Het |
Myt1 |
A |
T |
2: 181,444,725 (GRCm39) |
I514F |
probably damaging |
Het |
Nlrp4f |
A |
G |
13: 65,338,082 (GRCm39) |
C708R |
probably benign |
Het |
Nod2 |
A |
G |
8: 89,390,440 (GRCm39) |
E249G |
probably damaging |
Het |
Npy2r |
T |
C |
3: 82,448,251 (GRCm39) |
I175V |
probably benign |
Het |
Obscn |
A |
T |
11: 58,946,792 (GRCm39) |
V4114D |
probably damaging |
Het |
Or1l8 |
A |
T |
2: 36,817,820 (GRCm39) |
M102K |
probably damaging |
Het |
Or2y12 |
T |
A |
11: 49,426,504 (GRCm39) |
M164K |
possibly damaging |
Het |
Or4a76 |
A |
G |
2: 89,460,282 (GRCm39) |
|
probably null |
Het |
Or52e7 |
T |
A |
7: 104,684,915 (GRCm39) |
I170N |
possibly damaging |
Het |
Or8g33 |
A |
G |
9: 39,337,503 (GRCm39) |
M288T |
probably benign |
Het |
Pbxip1 |
T |
A |
3: 89,352,921 (GRCm39) |
I196N |
probably damaging |
Het |
Piezo1 |
G |
A |
8: 123,228,890 (GRCm39) |
T209M |
possibly damaging |
Het |
Polr1a |
T |
C |
6: 71,918,368 (GRCm39) |
M642T |
probably damaging |
Het |
Prdm4 |
T |
C |
10: 85,743,686 (GRCm39) |
M190V |
probably benign |
Het |
Psmd7 |
G |
A |
8: 108,307,691 (GRCm39) |
S264L |
possibly damaging |
Het |
Qrich1 |
T |
G |
9: 108,410,846 (GRCm39) |
|
probably benign |
Het |
Rapgef4 |
G |
T |
2: 71,861,520 (GRCm39) |
|
probably null |
Het |
Rfx5 |
T |
C |
3: 94,863,636 (GRCm39) |
I95T |
probably damaging |
Het |
Rgr |
G |
A |
14: 36,767,683 (GRCm39) |
R113C |
probably damaging |
Het |
Rnf20 |
T |
C |
4: 49,645,873 (GRCm39) |
|
probably benign |
Het |
Rps3a1 |
G |
A |
3: 86,045,369 (GRCm39) |
A241V |
probably benign |
Het |
Rttn |
A |
T |
18: 89,127,481 (GRCm39) |
|
probably benign |
Het |
Scn2a |
A |
G |
2: 65,532,187 (GRCm39) |
T600A |
probably damaging |
Het |
Scyl2 |
T |
C |
10: 89,493,751 (GRCm39) |
D339G |
possibly damaging |
Het |
Sipa1 |
T |
A |
19: 5,701,475 (GRCm39) |
H1029L |
probably benign |
Het |
Slc49a4 |
T |
C |
16: 35,539,736 (GRCm39) |
T362A |
probably benign |
Het |
Snrnp48 |
A |
G |
13: 38,395,081 (GRCm39) |
T124A |
probably benign |
Het |
Sptbn1 |
A |
T |
11: 30,088,637 (GRCm39) |
M875K |
possibly damaging |
Het |
Supt6 |
A |
G |
11: 78,113,024 (GRCm39) |
V973A |
possibly damaging |
Het |
Supv3l1 |
T |
C |
10: 62,279,162 (GRCm39) |
|
probably benign |
Het |
Svep1 |
G |
T |
4: 58,068,740 (GRCm39) |
N3015K |
possibly damaging |
Het |
Tgfb3 |
A |
G |
12: 86,105,841 (GRCm39) |
|
probably benign |
Het |
Trerf1 |
A |
G |
17: 47,628,771 (GRCm39) |
|
noncoding transcript |
Het |
Trim24 |
T |
A |
6: 37,941,761 (GRCm39) |
F904I |
probably damaging |
Het |
Trim30d |
T |
A |
7: 104,121,311 (GRCm39) |
Y328F |
probably benign |
Het |
Ttn |
T |
C |
2: 76,698,717 (GRCm39) |
E6G |
probably damaging |
Het |
Ube2m |
T |
C |
7: 12,769,762 (GRCm39) |
|
probably benign |
Het |
Vmn2r-ps158 |
A |
T |
7: 42,672,639 (GRCm39) |
R91S |
probably benign |
Het |
Wdr90 |
A |
T |
17: 26,079,422 (GRCm39) |
S237R |
possibly damaging |
Het |
Zfp735 |
A |
T |
11: 73,603,159 (GRCm39) |
H701L |
possibly damaging |
Het |
Zp1 |
T |
C |
19: 10,896,242 (GRCm39) |
D161G |
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 |
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 |
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'- CTACAAAATCTTCCAGGGGCAGGAC -3'
(R):5'- GCAGCACTGAGCAGGCTTTATGAAC -3'
Sequencing Primer
(F):5'- CAAAGACGTGGGCCACTG -3'
(R):5'- AGGCTTTATGAACCTGCCC -3'
|
Posted On |
2014-03-14 |