Incidental Mutation 'R2964:Fabp3'
ID |
255961 |
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 |
040520-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R2964 (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: 98.6%
- 10x: 97.2%
- 20x: 94.9%
|
Validation Efficiency |
100% (43/43) |
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: 44 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
2610021A01Rik |
C |
T |
7: 41,275,829 (GRCm39) |
R511* |
probably null |
Het |
Acox3 |
T |
C |
5: 35,762,611 (GRCm39) |
I495T |
possibly damaging |
Het |
Acsl3 |
A |
G |
1: 78,672,011 (GRCm39) |
S302G |
probably benign |
Het |
Ap1s1 |
T |
C |
5: 137,066,357 (GRCm39) |
D148G |
probably damaging |
Het |
Asprv1 |
T |
A |
6: 86,605,348 (GRCm39) |
C65S |
probably damaging |
Het |
Cdkal1 |
A |
G |
13: 29,628,018 (GRCm39) |
S39P |
unknown |
Het |
Chrna2 |
T |
C |
14: 66,386,817 (GRCm39) |
V321A |
possibly damaging |
Het |
Chsy1 |
G |
A |
7: 65,821,912 (GRCm39) |
G716R |
probably damaging |
Het |
Col13a1 |
G |
A |
10: 61,797,110 (GRCm39) |
R106W |
probably damaging |
Het |
Cul9 |
A |
G |
17: 46,813,154 (GRCm39) |
V2355A |
probably damaging |
Het |
Cwh43 |
T |
C |
5: 73,565,679 (GRCm39) |
|
probably benign |
Het |
Dbi |
C |
T |
1: 120,047,846 (GRCm39) |
|
probably benign |
Het |
Dync1h1 |
G |
A |
12: 110,607,460 (GRCm39) |
|
probably null |
Het |
Fbxw21 |
A |
G |
9: 108,974,578 (GRCm39) |
I314T |
probably benign |
Het |
Fstl3 |
T |
C |
10: 79,617,057 (GRCm39) |
V200A |
probably benign |
Het |
Gpr45 |
G |
A |
1: 43,071,668 (GRCm39) |
D104N |
possibly damaging |
Het |
Gsdma2 |
T |
C |
11: 98,548,085 (GRCm39) |
S184P |
probably damaging |
Het |
Gtf2ird1 |
T |
C |
5: 134,386,538 (GRCm39) |
|
probably null |
Het |
H2-T22 |
A |
G |
17: 36,351,537 (GRCm39) |
L231S |
probably damaging |
Het |
Hrh4 |
T |
C |
18: 13,155,426 (GRCm39) |
C322R |
probably benign |
Het |
Ing1 |
T |
A |
8: 11,611,641 (GRCm39) |
S26R |
probably benign |
Het |
Kif3a |
A |
T |
11: 53,469,757 (GRCm39) |
I123F |
probably damaging |
Het |
Lrp6 |
T |
C |
6: 134,444,489 (GRCm39) |
E1127G |
probably damaging |
Het |
Ltf |
G |
T |
9: 110,857,540 (GRCm39) |
C443F |
possibly damaging |
Het |
Mdc1 |
A |
T |
17: 36,164,529 (GRCm39) |
Q1359L |
possibly damaging |
Het |
Mdga1 |
A |
T |
17: 30,071,442 (GRCm39) |
I393N |
probably damaging |
Het |
Mnd1 |
C |
A |
3: 84,041,416 (GRCm39) |
C62F |
probably benign |
Het |
Myo3a |
T |
C |
2: 22,345,067 (GRCm39) |
V509A |
possibly damaging |
Het |
Nav2 |
C |
T |
7: 49,206,780 (GRCm39) |
T1535I |
probably damaging |
Het |
Nlrp4d |
G |
T |
7: 10,112,256 (GRCm39) |
S626* |
probably null |
Het |
Nup188 |
T |
A |
2: 30,215,358 (GRCm39) |
I732K |
probably damaging |
Het |
Oprm1 |
T |
C |
10: 6,738,914 (GRCm39) |
S14P |
probably damaging |
Het |
Or1j12 |
T |
C |
2: 36,342,779 (GRCm39) |
F61L |
probably damaging |
Het |
Or1l8 |
G |
A |
2: 36,817,419 (GRCm39) |
R236C |
probably benign |
Het |
Or5b101 |
C |
T |
19: 13,005,412 (GRCm39) |
A94T |
probably benign |
Het |
Pigr |
G |
A |
1: 130,769,272 (GRCm39) |
V28M |
probably damaging |
Het |
Pnpla2 |
C |
T |
7: 141,038,391 (GRCm39) |
L215F |
probably damaging |
Het |
Pth |
T |
C |
7: 112,985,136 (GRCm39) |
H79R |
probably benign |
Het |
Rasal1 |
T |
A |
5: 120,809,685 (GRCm39) |
L530Q |
probably damaging |
Het |
Sdccag8 |
A |
T |
1: 176,775,937 (GRCm39) |
K616M |
possibly damaging |
Het |
Slc4a5 |
C |
T |
6: 83,273,651 (GRCm39) |
T997I |
probably damaging |
Het |
Sp110 |
A |
C |
1: 85,505,050 (GRCm39) |
F434C |
probably benign |
Het |
Trav7d-4 |
C |
T |
14: 53,007,584 (GRCm39) |
Q26* |
probably null |
Het |
Zcchc8 |
A |
G |
5: 123,858,930 (GRCm39) |
S22P |
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 |
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'- GCCACAAACTTCTCTTTGGGTC -3'
(R):5'- GCTTATACTTAGTCCCTGGGC -3'
Sequencing Primer
(F):5'- GGGTCTATATAACACGTCTCTACC -3'
(R):5'- CACTGAGCAGGCTTTATGAACCTG -3'
|
Posted On |
2014-12-29 |