Incidental Mutation 'R4681:Fabp3'
ID |
350021 |
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 |
042015-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R4681 (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: 99.2%
- 3x: 98.5%
- 10x: 96.8%
- 20x: 94.1%
|
Validation Efficiency |
100% (59/59) |
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: 51 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Ahctf1 |
G |
T |
1: 179,580,361 (GRCm39) |
T1947K |
probably benign |
Het |
Ak9 |
A |
C |
10: 41,303,234 (GRCm39) |
K1669T |
unknown |
Het |
Atp4b |
T |
C |
8: 13,439,700 (GRCm39) |
E174G |
probably benign |
Het |
Bcl6 |
A |
G |
16: 23,787,203 (GRCm39) |
|
probably benign |
Het |
Brca2 |
C |
G |
5: 150,475,863 (GRCm39) |
|
probably null |
Het |
Btnl4 |
A |
T |
17: 34,689,075 (GRCm39) |
|
probably null |
Het |
C4a |
G |
T |
17: 35,036,075 (GRCm39) |
|
noncoding transcript |
Het |
Cab39l |
A |
G |
14: 59,737,054 (GRCm39) |
D58G |
probably benign |
Het |
Cacna2d3 |
A |
T |
14: 29,015,092 (GRCm39) |
M100K |
probably damaging |
Het |
Car2 |
T |
A |
3: 14,960,624 (GRCm39) |
Y127* |
probably null |
Het |
Cdhr1 |
T |
C |
14: 36,818,194 (GRCm39) |
N86S |
probably benign |
Het |
Celsr3 |
A |
G |
9: 108,704,953 (GRCm39) |
I479V |
possibly damaging |
Het |
Cfhr1 |
A |
T |
1: 139,478,667 (GRCm39) |
Y53* |
probably null |
Het |
Cgrrf1 |
A |
G |
14: 47,091,283 (GRCm39) |
E269G |
probably benign |
Het |
Cimap3 |
C |
A |
3: 105,905,701 (GRCm39) |
G148C |
probably damaging |
Het |
Clcn7 |
A |
T |
17: 25,376,935 (GRCm39) |
H636L |
probably damaging |
Het |
Cox10 |
T |
G |
11: 63,867,277 (GRCm39) |
T240P |
possibly damaging |
Het |
Crybg2 |
CTTCCAGAGCCATGGACCCATCTTTTCCA |
CTTCCA |
4: 133,800,029 (GRCm39) |
|
probably null |
Het |
Dbt |
A |
G |
3: 116,326,963 (GRCm39) |
D104G |
probably damaging |
Het |
F730035P03Rik |
T |
C |
7: 99,429,425 (GRCm39) |
|
noncoding transcript |
Het |
Fam186b |
T |
C |
15: 99,178,771 (GRCm39) |
K185R |
probably benign |
Het |
Fat4 |
T |
C |
3: 38,941,491 (GRCm39) |
L128P |
probably damaging |
Het |
Gbf1 |
A |
T |
19: 46,268,989 (GRCm39) |
Q1381L |
probably benign |
Het |
Glp2r |
C |
T |
11: 67,621,453 (GRCm39) |
|
probably null |
Het |
Gm18025 |
A |
G |
12: 34,340,884 (GRCm39) |
S70P |
probably benign |
Het |
Gpr45 |
A |
G |
1: 43,072,068 (GRCm39) |
D237G |
probably benign |
Het |
Hectd4 |
A |
T |
5: 121,441,678 (GRCm39) |
L1213F |
possibly damaging |
Het |
Hydin |
T |
C |
8: 111,233,103 (GRCm39) |
V1734A |
possibly damaging |
Het |
Kcnh5 |
A |
T |
12: 75,054,397 (GRCm39) |
S516T |
probably benign |
Het |
Liph |
A |
C |
16: 21,802,777 (GRCm39) |
S97R |
probably benign |
Het |
Mtcl1 |
T |
C |
17: 66,756,139 (GRCm39) |
T68A |
unknown |
Het |
Nsun7 |
T |
A |
5: 66,418,542 (GRCm39) |
S91T |
probably benign |
Het |
Or5an10 |
T |
C |
19: 12,276,413 (GRCm39) |
T28A |
probably benign |
Het |
Or6c75 |
A |
G |
10: 129,337,433 (GRCm39) |
I227V |
probably damaging |
Het |
Pcdh20 |
A |
T |
14: 88,705,052 (GRCm39) |
N749K |
probably damaging |
Het |
Pot1b |
A |
T |
17: 55,961,831 (GRCm39) |
D582E |
probably benign |
Het |
Pxdn |
T |
C |
12: 30,062,325 (GRCm39) |
I1212T |
probably benign |
Het |
Ramp1 |
T |
C |
1: 91,124,511 (GRCm39) |
V24A |
probably benign |
Het |
S100a8 |
T |
A |
3: 90,576,890 (GRCm39) |
D14E |
probably benign |
Het |
Stk31 |
A |
G |
6: 49,414,369 (GRCm39) |
D501G |
probably benign |
Het |
Tbc1d19 |
G |
A |
5: 54,029,595 (GRCm39) |
V319M |
probably damaging |
Het |
Tbcel |
G |
T |
9: 42,361,268 (GRCm39) |
H93Q |
probably damaging |
Het |
Traf3ip2 |
C |
T |
10: 39,515,256 (GRCm39) |
P345S |
possibly damaging |
Het |
Trpm8 |
A |
T |
1: 88,312,427 (GRCm39) |
I1103F |
possibly damaging |
Het |
Ttc19 |
T |
A |
11: 62,199,917 (GRCm39) |
C112* |
probably null |
Het |
Unc5c |
T |
G |
3: 141,474,374 (GRCm39) |
|
probably null |
Het |
Urb1 |
A |
T |
16: 90,601,425 (GRCm39) |
H115Q |
probably damaging |
Het |
Vmn2r15 |
T |
A |
5: 109,434,488 (GRCm39) |
I739F |
probably damaging |
Het |
Zcchc14 |
G |
T |
8: 122,335,339 (GRCm39) |
|
probably benign |
Het |
Zfp408 |
G |
A |
2: 91,476,131 (GRCm39) |
P341L |
probably damaging |
Het |
Zfp638 |
G |
A |
6: 83,958,719 (GRCm39) |
V1166M |
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 |
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 |
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 |
2015-10-08 |