Incidental Mutation 'R1144:Fabp3'
| ID |
102243 |
| 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 |
039217-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R1144 (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: 99.0%
- 3x: 98.2%
- 10x: 95.9%
- 20x: 91.2%
|
| Validation Efficiency |
100% (64/64) |
| 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: 62 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca15 |
C |
T |
7: 119,960,083 (GRCm39) |
|
probably benign |
Het |
| Abcc5 |
A |
T |
16: 20,241,188 (GRCm39) |
|
probably benign |
Het |
| Acsl5 |
A |
C |
19: 55,280,275 (GRCm39) |
D516A |
probably damaging |
Het |
| Adcy1 |
G |
A |
11: 7,087,400 (GRCm39) |
A425T |
probably damaging |
Het |
| Aebp1 |
A |
G |
11: 5,818,475 (GRCm39) |
T107A |
probably benign |
Het |
| Arhgef33 |
T |
C |
17: 80,662,473 (GRCm39) |
S219P |
probably benign |
Het |
| Atm |
T |
G |
9: 53,422,998 (GRCm39) |
|
probably benign |
Het |
| C1ql2 |
A |
C |
1: 120,270,266 (GRCm39) |
Y276S |
probably damaging |
Het |
| Cacna2d1 |
T |
C |
5: 16,527,595 (GRCm39) |
|
probably null |
Het |
| Cmbl |
A |
G |
15: 31,582,020 (GRCm39) |
N6D |
probably benign |
Het |
| Cntn3 |
A |
G |
6: 102,219,087 (GRCm39) |
V511A |
possibly damaging |
Het |
| Coq9 |
C |
A |
8: 95,569,251 (GRCm39) |
R28S |
probably benign |
Het |
| Creld1 |
T |
C |
6: 113,460,922 (GRCm39) |
F20S |
probably benign |
Het |
| Dcstamp |
A |
G |
15: 39,623,764 (GRCm39) |
K404E |
possibly damaging |
Het |
| Dip2b |
T |
A |
15: 100,052,131 (GRCm39) |
I244K |
probably benign |
Het |
| Dnhd1 |
G |
A |
7: 105,362,238 (GRCm39) |
E3700K |
probably damaging |
Het |
| Dnmt3l |
T |
A |
10: 77,887,739 (GRCm39) |
C110S |
probably damaging |
Het |
| Fgfr1 |
T |
G |
8: 26,048,159 (GRCm39) |
V172G |
probably damaging |
Het |
| Frem3 |
C |
A |
8: 81,338,513 (GRCm39) |
Q269K |
probably benign |
Het |
| Frmd6 |
C |
A |
12: 70,923,942 (GRCm39) |
H67N |
probably damaging |
Het |
| Fry |
A |
G |
5: 150,341,929 (GRCm39) |
T1532A |
possibly damaging |
Het |
| Git2 |
G |
T |
5: 114,891,375 (GRCm39) |
S243R |
probably benign |
Het |
| Grid1 |
A |
G |
14: 35,284,633 (GRCm39) |
|
probably benign |
Het |
| Grp |
A |
G |
18: 66,013,041 (GRCm39) |
D69G |
probably damaging |
Het |
| Hmbox1 |
A |
T |
14: 65,063,132 (GRCm39) |
L347Q |
probably damaging |
Het |
| Hsh2d |
C |
T |
8: 72,947,436 (GRCm39) |
|
probably benign |
Het |
| Itpr3 |
G |
A |
17: 27,333,897 (GRCm39) |
S2018N |
probably benign |
Het |
| Kif13b |
T |
A |
14: 64,951,566 (GRCm39) |
V69D |
probably benign |
Het |
| Kirrel1 |
C |
T |
3: 86,996,458 (GRCm39) |
M380I |
probably null |
Het |
| Lmcd1 |
T |
A |
6: 112,287,712 (GRCm39) |
|
probably benign |
Het |
| Megf9 |
C |
A |
4: 70,452,861 (GRCm39) |
A67S |
probably benign |
Het |
| Myo5b |
G |
A |
18: 74,758,658 (GRCm39) |
R213H |
probably damaging |
Het |
| Myo5c |
T |
A |
9: 75,193,730 (GRCm39) |
Y1162N |
probably damaging |
Het |
| Nphs1 |
A |
G |
7: 30,181,103 (GRCm39) |
|
probably benign |
Het |
| Ntrk1 |
G |
A |
3: 87,688,849 (GRCm39) |
T568I |
probably damaging |
Het |
| Pcmtd1 |
A |
G |
1: 7,190,705 (GRCm39) |
H58R |
probably damaging |
Het |
| Plaat5 |
A |
G |
19: 7,590,695 (GRCm39) |
D74G |
probably benign |
Het |
| Plxna4 |
A |
T |
6: 32,174,091 (GRCm39) |
I1168N |
possibly damaging |
Het |
| Ppm1h |
A |
G |
10: 122,777,183 (GRCm39) |
D483G |
probably benign |
Het |
| Prdm15 |
G |
A |
16: 97,609,908 (GRCm39) |
R579C |
probably damaging |
Het |
| Prickle1 |
T |
A |
15: 93,410,342 (GRCm39) |
R41W |
probably damaging |
Het |
| Rbm19 |
A |
G |
5: 120,261,081 (GRCm39) |
D235G |
possibly damaging |
Het |
| Smco2 |
A |
G |
6: 146,772,638 (GRCm39) |
|
probably benign |
Het |
| Sned1 |
G |
C |
1: 93,208,298 (GRCm39) |
G785R |
probably damaging |
Het |
| Stat4 |
A |
G |
1: 52,123,288 (GRCm39) |
|
probably benign |
Het |
| Syne2 |
T |
A |
12: 76,013,298 (GRCm39) |
F2830I |
probably benign |
Het |
| Tbc1d9 |
A |
G |
8: 83,963,200 (GRCm39) |
D304G |
possibly damaging |
Het |
| Thsd7a |
G |
A |
6: 12,471,026 (GRCm39) |
|
probably benign |
Het |
| Tmem63b |
T |
A |
17: 45,977,353 (GRCm39) |
K383N |
probably benign |
Het |
| Trp53rka |
C |
A |
2: 165,334,961 (GRCm39) |
|
probably benign |
Het |
| Trub1 |
G |
A |
19: 57,473,563 (GRCm39) |
V207M |
probably benign |
Het |
| Ulk2 |
A |
T |
11: 61,690,886 (GRCm39) |
C551S |
possibly damaging |
Het |
| Urb1 |
A |
T |
16: 90,573,206 (GRCm39) |
|
probably null |
Het |
| Vmn1r219 |
C |
A |
13: 23,347,383 (GRCm39) |
Q191K |
probably damaging |
Het |
| Vmn2r1 |
A |
T |
3: 63,997,541 (GRCm39) |
D399V |
probably damaging |
Het |
| Vmn2r87 |
A |
G |
10: 130,312,098 (GRCm39) |
|
probably benign |
Het |
| Wars1 |
A |
T |
12: 108,854,291 (GRCm39) |
L41* |
probably null |
Het |
| Washc2 |
G |
A |
6: 116,201,495 (GRCm39) |
E64K |
probably damaging |
Het |
| Washc4 |
G |
A |
10: 83,416,194 (GRCm39) |
R828Q |
probably damaging |
Het |
| Wdr59 |
A |
T |
8: 112,213,576 (GRCm39) |
M313K |
probably benign |
Het |
| Wscd2 |
G |
A |
5: 113,699,151 (GRCm39) |
|
probably null |
Het |
| Zdhhc20 |
A |
C |
14: 58,094,135 (GRCm39) |
L176V |
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 |
|
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 |
|
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 |
|
| Posted On |
2014-01-15 |
Incidental Mutation