Incidental Mutation 'R1509:Fabp3'
| ID |
168122 |
| 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 |
039556-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R1509 (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: 98.3%
- 10x: 96.4%
- 20x: 93.1%
|
| Validation Efficiency |
99% (89/90) |
| 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: 86 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2210408I21Rik |
T |
C |
13: 77,340,766 (GRCm39) |
S132P |
probably benign |
Het |
| AC153895.1 |
T |
C |
6: 50,020,451 (GRCm39) |
R54G |
unknown |
Het |
| Acot12 |
G |
A |
13: 91,919,994 (GRCm39) |
|
probably null |
Het |
| Adhfe1 |
T |
A |
1: 9,623,671 (GRCm39) |
D98E |
probably benign |
Het |
| Ago2 |
A |
G |
15: 72,988,213 (GRCm39) |
F594S |
probably damaging |
Het |
| Aldh18a1 |
A |
G |
19: 40,545,927 (GRCm39) |
I620T |
probably damaging |
Het |
| Aspscr1 |
C |
A |
11: 120,592,342 (GRCm39) |
A294D |
probably damaging |
Het |
| Bod1l |
C |
G |
5: 41,976,883 (GRCm39) |
R1477T |
probably damaging |
Het |
| Ccdc18 |
C |
A |
5: 108,336,844 (GRCm39) |
A741D |
possibly damaging |
Het |
| Ces4a |
G |
A |
8: 105,864,729 (GRCm39) |
G69S |
probably damaging |
Het |
| Cfap52 |
C |
T |
11: 67,829,819 (GRCm39) |
V317I |
probably benign |
Het |
| Cgn |
A |
T |
3: 94,681,568 (GRCm39) |
L509Q |
probably benign |
Het |
| Crb2 |
A |
G |
2: 37,676,631 (GRCm39) |
H204R |
probably benign |
Het |
| Cspg4b |
A |
G |
13: 113,504,790 (GRCm39) |
N431S |
probably damaging |
Het |
| Ddx39a |
G |
A |
8: 84,446,527 (GRCm39) |
V99M |
probably damaging |
Het |
| Dis3l2 |
T |
A |
1: 86,948,808 (GRCm39) |
C582S |
possibly damaging |
Het |
| Dmbt1 |
G |
A |
7: 130,676,061 (GRCm39) |
|
probably benign |
Het |
| Dnah6 |
T |
C |
6: 73,004,425 (GRCm39) |
E3846G |
probably damaging |
Het |
| Dstyk |
A |
G |
1: 132,384,084 (GRCm39) |
E655G |
probably damaging |
Het |
| Epha4 |
T |
C |
1: 77,357,523 (GRCm39) |
Y825C |
probably damaging |
Het |
| Esp36 |
T |
A |
17: 38,728,173 (GRCm39) |
N36I |
probably damaging |
Het |
| Fem1c |
A |
G |
18: 46,657,280 (GRCm39) |
S145P |
probably benign |
Het |
| Galnt13 |
T |
C |
2: 54,623,094 (GRCm39) |
I80T |
probably damaging |
Het |
| Gm5698 |
T |
C |
1: 31,016,728 (GRCm39) |
T108A |
probably benign |
Het |
| Hipk3 |
A |
G |
2: 104,271,607 (GRCm39) |
S442P |
probably benign |
Het |
| Hmcn2 |
T |
A |
2: 31,204,491 (GRCm39) |
V22D |
possibly damaging |
Het |
| Hspg2 |
C |
T |
4: 137,238,552 (GRCm39) |
|
probably benign |
Het |
| Ide |
A |
G |
19: 37,262,603 (GRCm39) |
|
probably null |
Het |
| Ifnar1 |
C |
A |
16: 91,300,384 (GRCm39) |
P462Q |
probably damaging |
Het |
| Itgb2l |
T |
A |
16: 96,228,049 (GRCm39) |
I485F |
probably benign |
Het |
| Jakmip3 |
C |
T |
7: 138,629,505 (GRCm39) |
R549W |
possibly damaging |
Het |
| Lrrc36 |
A |
G |
8: 106,187,761 (GRCm39) |
Q680R |
probably damaging |
Het |
| Lysmd3 |
T |
G |
13: 81,817,390 (GRCm39) |
H122Q |
probably benign |
Het |
| Macf1 |
C |
A |
4: 123,577,802 (GRCm39) |
V61L |
possibly damaging |
Het |
| Map1b |
T |
C |
13: 99,568,036 (GRCm39) |
T1562A |
unknown |
Het |
| Map3k20 |
A |
T |
2: 72,194,968 (GRCm39) |
|
probably benign |
Het |
| Mroh8 |
A |
G |
2: 157,075,125 (GRCm39) |
V457A |
probably benign |
Het |
| Mrpl40 |
T |
A |
16: 18,694,159 (GRCm39) |
|
probably null |
Het |
| Ms4a10 |
C |
T |
19: 10,941,472 (GRCm39) |
V166I |
probably benign |
Het |
| Mycl |
A |
G |
4: 122,894,100 (GRCm39) |
D300G |
probably damaging |
Het |
| Naca |
T |
A |
10: 127,879,266 (GRCm39) |
|
probably benign |
Het |
| Ncoa4 |
T |
C |
14: 31,895,391 (GRCm39) |
S172P |
probably damaging |
Het |
| Nfatc3 |
T |
C |
8: 106,810,486 (GRCm39) |
F421L |
possibly damaging |
Het |
| Nucb1 |
C |
A |
7: 45,144,649 (GRCm39) |
K301N |
probably benign |
Het |
| Or1af1 |
A |
G |
2: 37,109,966 (GRCm39) |
H155R |
probably damaging |
Het |
| Or52ae9 |
A |
T |
7: 103,390,243 (GRCm39) |
M68K |
probably benign |
Het |
| Or5b99 |
T |
A |
19: 12,976,815 (GRCm39) |
I155N |
possibly damaging |
Het |
| Panx1 |
A |
T |
9: 14,921,341 (GRCm39) |
V178E |
possibly damaging |
Het |
| Pkd1l3 |
G |
A |
8: 110,367,402 (GRCm39) |
V1210I |
probably damaging |
Het |
| Polr2a |
A |
T |
11: 69,638,039 (GRCm39) |
H143Q |
possibly damaging |
Het |
| Potefam1 |
A |
T |
2: 111,048,972 (GRCm39) |
M269K |
probably benign |
Het |
| Prdm12 |
G |
A |
2: 31,544,186 (GRCm39) |
R263H |
probably damaging |
Het |
| Prkdc |
A |
C |
16: 15,549,430 (GRCm39) |
K1998T |
probably damaging |
Het |
| Rab11fip1 |
A |
T |
8: 27,643,051 (GRCm39) |
S583T |
probably damaging |
Het |
| Rnf157 |
T |
A |
11: 116,237,921 (GRCm39) |
T567S |
probably benign |
Het |
| Rp1 |
T |
C |
1: 4,417,917 (GRCm39) |
K1065R |
probably damaging |
Het |
| Rp1 |
A |
G |
1: 4,418,760 (GRCm39) |
I784T |
probably benign |
Het |
| Rps10 |
A |
C |
17: 27,850,182 (GRCm39) |
F150V |
probably benign |
Het |
| Rrp12 |
A |
T |
19: 41,870,639 (GRCm39) |
F499I |
probably damaging |
Het |
| Sez6l2 |
G |
A |
7: 126,562,535 (GRCm39) |
R604H |
probably damaging |
Het |
| Slc25a21 |
G |
T |
12: 56,904,864 (GRCm39) |
Q57K |
probably benign |
Het |
| Slc27a2 |
A |
G |
2: 126,395,234 (GRCm39) |
T54A |
possibly damaging |
Het |
| Slc9a9 |
T |
A |
9: 95,111,011 (GRCm39) |
S610T |
probably benign |
Het |
| Smc1b |
A |
T |
15: 84,970,335 (GRCm39) |
S973T |
probably benign |
Het |
| Smc6 |
G |
A |
12: 11,329,734 (GRCm39) |
S164N |
possibly damaging |
Het |
| Sp1 |
A |
G |
15: 102,316,314 (GRCm39) |
T32A |
possibly damaging |
Het |
| Spen |
T |
C |
4: 141,202,946 (GRCm39) |
I1894V |
probably benign |
Het |
| Spen |
T |
C |
4: 141,203,011 (GRCm39) |
K1872R |
possibly damaging |
Het |
| Stab1 |
C |
A |
14: 30,873,541 (GRCm39) |
|
probably benign |
Het |
| Taar7d |
T |
G |
10: 23,904,102 (GRCm39) |
F328C |
probably damaging |
Het |
| Ticam1 |
A |
T |
17: 56,578,113 (GRCm39) |
S327R |
probably benign |
Het |
| Tmem248 |
C |
T |
5: 130,258,295 (GRCm39) |
|
probably benign |
Het |
| Tom1 |
T |
C |
8: 75,781,259 (GRCm39) |
S83P |
probably damaging |
Het |
| Txk |
T |
A |
5: 72,856,453 (GRCm39) |
Y446F |
probably damaging |
Het |
| Ubap1l |
T |
A |
9: 65,279,237 (GRCm39) |
C179S |
probably benign |
Het |
| Utrn |
T |
C |
10: 12,331,185 (GRCm39) |
E474G |
possibly damaging |
Het |
| Vmn2r14 |
T |
C |
5: 109,363,862 (GRCm39) |
M685V |
probably benign |
Het |
| Vmn2r7 |
A |
T |
3: 64,623,881 (GRCm39) |
Y146* |
probably null |
Het |
| Wdr1 |
G |
A |
5: 38,697,905 (GRCm39) |
T220M |
probably damaging |
Het |
| Xpo7 |
T |
C |
14: 70,915,582 (GRCm39) |
D726G |
probably damaging |
Het |
| Zbtb14 |
C |
G |
17: 69,694,759 (GRCm39) |
I152M |
probably benign |
Het |
| Zbtb3 |
A |
G |
19: 8,780,771 (GRCm39) |
D128G |
probably damaging |
Het |
| Zeb1os1 |
A |
G |
18: 5,583,794 (GRCm39) |
|
noncoding transcript |
Het |
| Zfp462 |
T |
A |
4: 55,007,667 (GRCm39) |
D35E |
probably damaging |
Het |
| Zfp467 |
A |
G |
6: 48,415,621 (GRCm39) |
S344P |
possibly damaging |
Het |
| Zfpm1 |
A |
T |
8: 123,034,285 (GRCm39) |
D73V |
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 |
|
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 |
2014-04-13 |
Incidental Mutation