Incidental Mutation 'R4850:Fabp3'
| ID |
373453 |
| 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 |
042462-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R4850 (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: 99.1%
- 3x: 98.4%
- 10x: 96.7%
- 20x: 93.8%
|
| Validation Efficiency |
99% (79/80) |
| 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: 67 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcb10 |
C |
T |
8: 124,709,429 (GRCm39) |
A42T |
probably benign |
Het |
| Acsf3 |
T |
C |
8: 123,544,175 (GRCm39) |
V551A |
probably damaging |
Het |
| Adgrl2 |
G |
A |
3: 148,564,656 (GRCm39) |
T304I |
probably damaging |
Het |
| Akr1d1 |
A |
G |
6: 37,531,522 (GRCm39) |
|
probably null |
Het |
| Ankrd17 |
A |
T |
5: 90,412,645 (GRCm39) |
H1226Q |
probably damaging |
Het |
| Arap1 |
T |
C |
7: 101,047,998 (GRCm39) |
I847T |
probably damaging |
Het |
| Atad2b |
G |
A |
12: 4,993,251 (GRCm39) |
G257S |
probably benign |
Het |
| Cand2 |
A |
T |
6: 115,778,909 (GRCm39) |
T1158S |
probably benign |
Het |
| Cic |
G |
A |
7: 24,972,327 (GRCm39) |
R686H |
probably damaging |
Het |
| Cldn1 |
T |
A |
16: 26,181,913 (GRCm39) |
T99S |
probably benign |
Het |
| Cnga3 |
G |
T |
1: 37,297,087 (GRCm39) |
E173* |
probably null |
Het |
| Cplane1 |
T |
C |
15: 8,292,422 (GRCm39) |
S3012P |
unknown |
Het |
| Cryge |
G |
T |
1: 65,090,211 (GRCm39) |
|
probably benign |
Het |
| Dsp |
T |
A |
13: 38,376,445 (GRCm39) |
L1410H |
probably damaging |
Het |
| Dync2h1 |
T |
C |
9: 7,134,364 (GRCm39) |
T1548A |
probably benign |
Het |
| Dysf |
C |
A |
6: 84,074,697 (GRCm39) |
D499E |
probably damaging |
Het |
| Eml5 |
T |
C |
12: 98,756,878 (GRCm39) |
D1917G |
probably damaging |
Het |
| Fn3krp |
A |
T |
11: 121,315,879 (GRCm39) |
H90L |
possibly damaging |
Het |
| Garin2 |
A |
G |
12: 78,761,927 (GRCm39) |
D197G |
probably damaging |
Het |
| Gm10718 |
A |
T |
9: 3,023,716 (GRCm39) |
T56S |
probably benign |
Het |
| Gm4847 |
A |
T |
1: 166,469,908 (GRCm39) |
I55K |
probably damaging |
Het |
| Gsn |
T |
A |
2: 35,173,912 (GRCm39) |
|
probably null |
Het |
| H2bc11 |
G |
T |
13: 22,227,421 (GRCm39) |
|
probably benign |
Het |
| Haghl |
T |
C |
17: 26,001,980 (GRCm39) |
|
probably benign |
Het |
| Hmg20b |
T |
A |
10: 81,182,761 (GRCm39) |
E139V |
probably damaging |
Het |
| Hsd3b6 |
G |
A |
3: 98,715,221 (GRCm39) |
T57I |
probably benign |
Het |
| Igkv5-48 |
A |
G |
6: 69,703,780 (GRCm39) |
S42P |
probably damaging |
Het |
| Igsf23 |
T |
C |
7: 19,687,859 (GRCm39) |
|
probably benign |
Het |
| Kcnt1 |
T |
C |
2: 25,798,112 (GRCm39) |
F874L |
probably damaging |
Het |
| Maf1 |
T |
C |
15: 76,237,162 (GRCm39) |
F110L |
possibly damaging |
Het |
| Mtpap |
C |
T |
18: 4,387,044 (GRCm39) |
R365W |
probably damaging |
Het |
| Mtus1 |
A |
C |
8: 41,537,507 (GRCm39) |
S70A |
possibly damaging |
Het |
| Nfatc1 |
T |
A |
18: 80,741,080 (GRCm39) |
T307S |
probably benign |
Het |
| Nphs1 |
T |
G |
7: 30,162,657 (GRCm39) |
S379A |
possibly damaging |
Het |
| Nup205 |
A |
G |
6: 35,207,465 (GRCm39) |
T1506A |
probably benign |
Het |
| Or13f5 |
T |
C |
4: 52,825,450 (GRCm39) |
S18P |
possibly damaging |
Het |
| Or8u9 |
T |
A |
2: 86,002,015 (GRCm39) |
I49F |
probably damaging |
Het |
| Pcdhga8 |
A |
T |
18: 37,860,762 (GRCm39) |
Y606F |
probably damaging |
Het |
| Pde7a |
A |
G |
3: 19,297,281 (GRCm39) |
V123A |
probably benign |
Het |
| Pex1 |
C |
T |
5: 3,674,426 (GRCm39) |
T809I |
probably benign |
Het |
| Prdm13 |
C |
A |
4: 21,678,243 (GRCm39) |
R749L |
possibly damaging |
Het |
| Prkcd |
A |
G |
14: 30,321,700 (GRCm39) |
L498P |
probably damaging |
Het |
| Pros1 |
A |
T |
16: 62,705,887 (GRCm39) |
E67V |
probably damaging |
Het |
| Rab44 |
A |
G |
17: 29,359,063 (GRCm39) |
E417G |
possibly damaging |
Het |
| Rangrf |
A |
G |
11: 68,864,466 (GRCm39) |
|
probably null |
Het |
| Rp1 |
T |
A |
1: 4,418,898 (GRCm39) |
K738M |
probably damaging |
Het |
| Ryr2 |
A |
T |
13: 11,683,706 (GRCm39) |
D3119E |
probably damaging |
Het |
| Ryr2 |
G |
A |
13: 11,760,638 (GRCm39) |
R1482C |
probably damaging |
Het |
| Sbspon |
T |
A |
1: 15,929,192 (GRCm39) |
T200S |
probably damaging |
Het |
| Sfxn5 |
T |
C |
6: 85,309,358 (GRCm39) |
|
probably benign |
Het |
| Slc26a8 |
T |
A |
17: 28,873,857 (GRCm39) |
I377F |
probably benign |
Het |
| Slc30a7 |
A |
G |
3: 115,786,657 (GRCm39) |
F72L |
probably damaging |
Het |
| Slc32a1 |
T |
C |
2: 158,456,112 (GRCm39) |
F256L |
possibly damaging |
Het |
| Slco6b1 |
T |
C |
1: 96,839,558 (GRCm39) |
|
noncoding transcript |
Het |
| Smpd1 |
A |
G |
7: 105,205,192 (GRCm39) |
H357R |
probably benign |
Het |
| Sncaip |
A |
T |
18: 53,004,456 (GRCm39) |
H361L |
probably damaging |
Het |
| Tenm2 |
A |
C |
11: 35,914,315 (GRCm39) |
Y2406* |
probably null |
Het |
| Terb1 |
T |
A |
8: 105,212,057 (GRCm39) |
H308L |
probably benign |
Het |
| Trim61 |
A |
T |
8: 65,466,070 (GRCm39) |
L397H |
probably damaging |
Het |
| Trp53bp1 |
T |
A |
2: 121,035,594 (GRCm39) |
|
probably null |
Het |
| Ttn |
T |
G |
2: 76,611,899 (GRCm39) |
E9007D |
possibly damaging |
Het |
| Urb1 |
A |
T |
16: 90,592,302 (GRCm39) |
C319* |
probably null |
Het |
| Vmn2r95 |
T |
C |
17: 18,671,915 (GRCm39) |
Y551H |
probably damaging |
Het |
| Vwde |
A |
T |
6: 13,196,047 (GRCm39) |
V326D |
possibly damaging |
Het |
| Xdh |
A |
G |
17: 74,205,330 (GRCm39) |
L1045P |
probably damaging |
Het |
| Zfp638 |
T |
C |
6: 83,956,457 (GRCm39) |
I1688T |
possibly damaging |
Het |
| Zwint |
T |
A |
10: 72,491,788 (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 |
|
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 |
|
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'- GGCCACAAACTTCTCTTTGG -3'
(R):5'- GCTTATACTTAGTCCCTGGGCC -3'
Sequencing Primer
(F):5'- GGGTCTATATAACACGTCTCTACC -3'
(R):5'- CACTGAGCAGGCTTTATGAACCTG -3'
|
| Posted On |
2016-03-01 |
Incidental Mutation