Incidental Mutation 'R2208:Fabp3'
ID |
236769 |
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 |
040210-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R2208 (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: 98.7%
- 10x: 97.6%
- 20x: 96.0%
|
Validation Efficiency |
98% (51/52) |
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: 52 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Ahnak |
T |
C |
19: 8,995,096 (GRCm39) |
V5460A |
probably benign |
Het |
Bco2 |
A |
G |
9: 50,444,755 (GRCm39) |
V517A |
probably damaging |
Het |
Brca2 |
T |
A |
5: 150,455,809 (GRCm39) |
D183E |
probably damaging |
Het |
Ccdc142 |
T |
C |
6: 83,084,941 (GRCm39) |
|
probably null |
Het |
Ccdc39 |
A |
G |
3: 33,895,327 (GRCm39) |
L34P |
probably damaging |
Het |
Cdc42bpb |
T |
A |
12: 111,302,463 (GRCm39) |
H198L |
probably damaging |
Het |
Cdc73 |
T |
A |
1: 143,485,120 (GRCm39) |
E516V |
probably damaging |
Het |
Cep170b |
T |
A |
12: 112,705,419 (GRCm39) |
L1059Q |
probably benign |
Het |
Chrm1 |
T |
C |
19: 8,655,463 (GRCm39) |
L56P |
probably damaging |
Het |
Clec4d |
T |
A |
6: 123,242,314 (GRCm39) |
V22D |
probably damaging |
Het |
Cplane1 |
T |
A |
15: 8,223,887 (GRCm39) |
N883K |
probably benign |
Het |
Cyp2c39 |
T |
C |
19: 39,549,405 (GRCm39) |
Y308H |
possibly damaging |
Het |
Cyp2d12 |
T |
C |
15: 82,441,137 (GRCm39) |
L141P |
probably damaging |
Het |
Cyp4x1 |
G |
T |
4: 114,983,791 (GRCm39) |
Q85K |
probably benign |
Het |
Dpysl5 |
G |
A |
5: 30,948,941 (GRCm39) |
D399N |
probably damaging |
Het |
Enpp7 |
T |
C |
11: 118,879,588 (GRCm39) |
|
probably benign |
Het |
Fitm2 |
T |
A |
2: 163,314,604 (GRCm39) |
|
probably benign |
Het |
Gng10 |
T |
A |
4: 59,035,314 (GRCm39) |
I26N |
possibly damaging |
Het |
Gpr33 |
C |
T |
12: 52,070,236 (GRCm39) |
V268I |
probably benign |
Het |
Hmcn2 |
G |
A |
2: 31,270,309 (GRCm39) |
C1182Y |
probably damaging |
Het |
Kcnh8 |
GAGACCAACGAGCAGCTGATGCTTCAGA |
GAGA |
17: 53,032,934 (GRCm39) |
74 |
probably benign |
Het |
Krt36 |
C |
T |
11: 99,993,765 (GRCm39) |
V358M |
probably damaging |
Het |
Lmod3 |
T |
C |
6: 97,224,838 (GRCm39) |
I328V |
probably benign |
Het |
Lrp8 |
T |
C |
4: 107,712,987 (GRCm39) |
V580A |
probably damaging |
Het |
Masp2 |
T |
C |
4: 148,698,872 (GRCm39) |
I651T |
probably damaging |
Het |
Mnd1 |
C |
A |
3: 84,041,416 (GRCm39) |
C62F |
probably benign |
Het |
Msi2 |
A |
T |
11: 88,480,934 (GRCm39) |
S118T |
probably damaging |
Het |
Muc19 |
T |
C |
15: 91,755,747 (GRCm39) |
|
noncoding transcript |
Het |
Nabp1 |
G |
A |
1: 51,516,773 (GRCm39) |
R32* |
probably null |
Het |
Nfix |
CAAAAA |
CAAAA |
8: 85,442,876 (GRCm39) |
|
probably null |
Het |
Nup88 |
T |
C |
11: 70,856,545 (GRCm39) |
D196G |
probably damaging |
Het |
Or11h4b |
T |
C |
14: 50,919,020 (GRCm39) |
I24V |
probably benign |
Het |
Pax1 |
T |
A |
2: 147,207,722 (GRCm39) |
I198N |
probably damaging |
Het |
Pde3a |
A |
G |
6: 141,196,073 (GRCm39) |
E253G |
probably damaging |
Het |
Phldb1 |
C |
T |
9: 44,607,428 (GRCm39) |
R1192Q |
probably damaging |
Het |
Pianp |
C |
A |
6: 124,976,602 (GRCm39) |
P137Q |
probably damaging |
Het |
Prdm15 |
A |
C |
16: 97,600,464 (GRCm39) |
|
probably null |
Het |
Ptprf |
A |
T |
4: 118,126,369 (GRCm39) |
|
probably benign |
Het |
Rfx7 |
A |
G |
9: 72,525,246 (GRCm39) |
D812G |
probably benign |
Het |
Rgs22 |
T |
C |
15: 36,050,378 (GRCm39) |
T691A |
probably benign |
Het |
Rundc3a |
A |
T |
11: 102,292,914 (GRCm39) |
S436C |
probably damaging |
Het |
Sntb1 |
T |
C |
15: 55,769,714 (GRCm39) |
T92A |
possibly damaging |
Het |
Tars3 |
T |
C |
7: 65,332,596 (GRCm39) |
S566P |
probably damaging |
Het |
Tbc1d32 |
A |
T |
10: 56,026,888 (GRCm39) |
|
probably null |
Het |
Tep1 |
T |
C |
14: 51,104,321 (GRCm39) |
Q191R |
probably benign |
Het |
Tmc2 |
C |
A |
2: 130,056,483 (GRCm39) |
|
probably null |
Het |
Tns1 |
A |
C |
1: 74,118,399 (GRCm39) |
I77S |
probably damaging |
Het |
Trpd52l3 |
T |
C |
19: 29,981,646 (GRCm39) |
W134R |
probably damaging |
Het |
Vmn2r15 |
A |
C |
5: 109,445,309 (GRCm39) |
N38K |
possibly damaging |
Het |
Wdr90 |
A |
T |
17: 26,079,362 (GRCm39) |
D257E |
probably damaging |
Het |
Zbtb9 |
T |
C |
17: 27,193,098 (GRCm39) |
C168R |
possibly damaging |
Het |
Zfp1004 |
T |
A |
2: 150,035,065 (GRCm39) |
V462E |
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 |
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'- GGCCACAAACTTCTCTTTGGG -3'
(R):5'- GCTTATACTTAGTCCCTGGGCC -3'
Sequencing Primer
(F):5'- GGGTCTATATAACACGTCTCTACC -3'
(R):5'- CACTGAGCAGGCTTTATGAACCTG -3'
|
Posted On |
2014-10-02 |