Incidental Mutation 'R3430:Fabp3'
ID |
268056 |
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 |
040648-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R3430 (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: 99.3%
- 3x: 98.6%
- 10x: 97.4%
- 20x: 95.5%
|
Validation Efficiency |
100% (67/67) |
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: 61 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Afap1l2 |
C |
A |
19: 56,904,238 (GRCm39) |
R683L |
probably damaging |
Het |
Ahnak |
A |
G |
19: 8,984,322 (GRCm39) |
I1869V |
probably benign |
Het |
Aoc1 |
A |
T |
6: 48,883,010 (GRCm39) |
E295D |
probably benign |
Het |
Arhgef19 |
T |
C |
4: 140,984,111 (GRCm39) |
L777P |
probably benign |
Het |
Atf7ip |
A |
G |
6: 136,552,322 (GRCm39) |
|
probably benign |
Het |
Bhmt |
T |
C |
13: 93,763,855 (GRCm39) |
E62G |
probably damaging |
Het |
Bpifa6 |
A |
G |
2: 153,831,171 (GRCm39) |
I246V |
probably benign |
Het |
Btbd10 |
T |
A |
7: 112,951,016 (GRCm39) |
R25* |
probably null |
Het |
Ccdc88a |
T |
A |
11: 29,398,033 (GRCm39) |
D255E |
probably damaging |
Het |
Chd7 |
T |
C |
4: 8,844,517 (GRCm39) |
V1542A |
probably damaging |
Het |
Cimip1 |
T |
C |
2: 173,370,066 (GRCm39) |
Y114H |
possibly damaging |
Het |
Col12a1 |
T |
A |
9: 79,587,593 (GRCm39) |
T1183S |
probably benign |
Het |
Col20a1 |
T |
A |
2: 180,655,078 (GRCm39) |
L1145* |
probably null |
Het |
Dchs1 |
A |
G |
7: 105,405,711 (GRCm39) |
V2391A |
possibly damaging |
Het |
Dgat2 |
A |
G |
7: 98,806,300 (GRCm39) |
V299A |
probably benign |
Het |
Dmxl2 |
T |
A |
9: 54,384,745 (GRCm39) |
N94I |
possibly damaging |
Het |
Dnah6 |
G |
A |
6: 73,098,797 (GRCm39) |
S2034L |
possibly damaging |
Het |
Filip1 |
A |
T |
9: 79,760,952 (GRCm39) |
M194K |
probably damaging |
Het |
Fut1 |
T |
C |
7: 45,268,798 (GRCm39) |
F196L |
probably damaging |
Het |
Gm10323 |
A |
C |
13: 67,002,888 (GRCm39) |
W17G |
probably damaging |
Het |
Grin3a |
C |
A |
4: 49,792,534 (GRCm39) |
V400L |
probably benign |
Het |
Htr3a |
T |
C |
9: 48,818,688 (GRCm39) |
N82S |
probably benign |
Het |
Il23r |
A |
C |
6: 67,429,458 (GRCm39) |
S295A |
probably benign |
Het |
Klk14 |
G |
A |
7: 43,341,501 (GRCm39) |
C51Y |
probably damaging |
Het |
Lama5 |
T |
C |
2: 179,838,110 (GRCm39) |
K869E |
probably benign |
Het |
Lce1d |
A |
T |
3: 92,593,037 (GRCm39) |
|
probably benign |
Het |
Lkaaear1 |
T |
C |
2: 181,339,324 (GRCm39) |
D42G |
probably benign |
Het |
Mapk8ip2 |
A |
G |
15: 89,341,485 (GRCm39) |
E232G |
possibly damaging |
Het |
Marf1 |
A |
G |
16: 13,958,041 (GRCm39) |
|
probably benign |
Het |
Mpeg1 |
A |
T |
19: 12,440,492 (GRCm39) |
H650L |
probably benign |
Het |
Nfib |
T |
C |
4: 82,416,532 (GRCm39) |
I168V |
possibly damaging |
Het |
Or1e29 |
A |
T |
11: 73,667,365 (GRCm39) |
S263T |
probably damaging |
Het |
Or2b7 |
A |
T |
13: 21,739,975 (GRCm39) |
C72* |
probably null |
Het |
Or4c29 |
C |
T |
2: 88,739,810 (GRCm39) |
R309Q |
probably benign |
Het |
Or4e5 |
A |
G |
14: 52,727,882 (GRCm39) |
F180L |
possibly damaging |
Het |
Or8b3b |
A |
T |
9: 38,584,435 (GRCm39) |
F102I |
probably damaging |
Het |
Otx2 |
T |
A |
14: 48,896,254 (GRCm39) |
K260M |
probably damaging |
Het |
P2ry12 |
C |
T |
3: 59,125,448 (GRCm39) |
D76N |
probably damaging |
Het |
Parp3 |
A |
T |
9: 106,351,922 (GRCm39) |
I150K |
probably damaging |
Het |
Prex2 |
T |
G |
1: 11,220,078 (GRCm39) |
I683S |
possibly damaging |
Het |
Prss34 |
A |
T |
17: 25,518,078 (GRCm39) |
K86I |
probably benign |
Het |
Ptpn20 |
T |
A |
14: 33,336,485 (GRCm39) |
V108D |
possibly damaging |
Het |
Rlf |
A |
G |
4: 121,007,729 (GRCm39) |
L417P |
probably benign |
Het |
Rsad2 |
T |
C |
12: 26,506,418 (GRCm39) |
M1V |
probably null |
Het |
S1pr5 |
A |
G |
9: 21,156,378 (GRCm39) |
V16A |
probably benign |
Het |
Scn7a |
AT |
ATT |
2: 66,531,239 (GRCm39) |
|
probably null |
Het |
Serpinb3b |
A |
T |
1: 107,082,425 (GRCm39) |
S280T |
probably benign |
Het |
Sh3d21 |
A |
G |
4: 126,056,625 (GRCm39) |
S66P |
probably benign |
Het |
Sh3yl1 |
T |
C |
12: 31,009,841 (GRCm39) |
S253P |
probably benign |
Het |
Smarca2 |
A |
G |
19: 26,668,749 (GRCm39) |
E916G |
probably damaging |
Het |
Sptbn1 |
A |
G |
11: 30,169,686 (GRCm39) |
I14T |
possibly damaging |
Het |
Supt16 |
A |
T |
14: 52,412,816 (GRCm39) |
M559K |
probably benign |
Het |
Tas1r2 |
A |
G |
4: 139,396,886 (GRCm39) |
T742A |
probably damaging |
Het |
Tbc1d5 |
T |
C |
17: 51,107,156 (GRCm39) |
K467E |
probably damaging |
Het |
Tet3 |
A |
G |
6: 83,380,401 (GRCm39) |
V589A |
probably damaging |
Het |
Tmem131 |
A |
G |
1: 36,847,902 (GRCm39) |
|
probably benign |
Het |
Tmtc3 |
A |
G |
10: 100,283,437 (GRCm39) |
F706S |
probably benign |
Het |
Tsku |
T |
C |
7: 98,001,746 (GRCm39) |
N195S |
probably damaging |
Het |
Vmn2r129 |
G |
T |
4: 156,686,692 (GRCm39) |
|
noncoding transcript |
Het |
Vmn2r85 |
T |
A |
10: 130,254,758 (GRCm39) |
H642L |
probably damaging |
Het |
Zfc3h1 |
A |
G |
10: 115,246,428 (GRCm39) |
|
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 |
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'- GGCCACAAACTTCTCTTTGGG -3'
(R):5'- GCTTATACTTAGTCCCTGGGCC -3'
Sequencing Primer
(F):5'- GGGTCTATATAACACGTCTCTACC -3'
(R):5'- CACTGAGCAGGCTTTATGAACCTG -3'
|
Posted On |
2015-02-18 |