Incidental Mutation 'R1641:Fabp3'
ID |
173526 |
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 |
039677-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R1641 (G1)
|
Quality Score |
225 |
Status
|
Not 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: 98.0%
- 10x: 95.3%
- 20x: 89.3%
|
Validation Efficiency |
|
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: 56 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aasdh |
T |
A |
5: 77,039,626 (GRCm39) |
T228S |
probably benign |
Het |
Adamts2 |
C |
T |
11: 50,683,612 (GRCm39) |
P965S |
probably damaging |
Het |
Ankrd11 |
A |
G |
8: 123,618,485 (GRCm39) |
I1768T |
probably benign |
Het |
Arsi |
G |
A |
18: 61,049,723 (GRCm39) |
G202E |
probably benign |
Het |
Baz2b |
A |
T |
2: 59,743,234 (GRCm39) |
L1579Q |
probably damaging |
Het |
Btbd7 |
A |
G |
12: 102,757,034 (GRCm39) |
V684A |
probably damaging |
Het |
Camk1g |
T |
A |
1: 193,038,665 (GRCm39) |
I86F |
probably benign |
Het |
Capn13 |
A |
T |
17: 73,689,889 (GRCm39) |
S41T |
possibly damaging |
Het |
Cep192 |
C |
A |
18: 67,980,504 (GRCm39) |
L1422I |
probably damaging |
Het |
Chaf1a |
T |
C |
17: 56,354,380 (GRCm39) |
F217L |
unknown |
Het |
Clca3b |
A |
T |
3: 144,529,274 (GRCm39) |
M800K |
possibly damaging |
Het |
Cplane1 |
A |
G |
15: 8,258,443 (GRCm39) |
T2230A |
probably benign |
Het |
Crocc |
A |
G |
4: 140,744,388 (GRCm39) |
V1836A |
probably benign |
Het |
Csmd2 |
G |
A |
4: 128,377,188 (GRCm39) |
V2023M |
possibly damaging |
Het |
Cul9 |
A |
G |
17: 46,854,486 (GRCm39) |
V72A |
possibly damaging |
Het |
Ddx52 |
T |
C |
11: 83,834,269 (GRCm39) |
|
probably null |
Het |
Dennd5b |
A |
C |
6: 148,969,703 (GRCm39) |
V250G |
probably damaging |
Het |
Gtpbp4 |
A |
T |
13: 9,023,285 (GRCm39) |
M593K |
probably benign |
Het |
Il21 |
A |
G |
3: 37,286,681 (GRCm39) |
F12L |
probably benign |
Het |
Lrit2 |
T |
A |
14: 36,791,105 (GRCm39) |
N261K |
probably benign |
Het |
Lrrc39 |
G |
T |
3: 116,364,562 (GRCm39) |
C151F |
probably damaging |
Het |
Lsm14a |
C |
A |
7: 34,050,799 (GRCm39) |
R426L |
probably damaging |
Het |
Maml1 |
G |
A |
11: 50,157,774 (GRCm39) |
P134S |
probably benign |
Het |
Map3k13 |
T |
C |
16: 21,722,542 (GRCm39) |
C235R |
probably damaging |
Het |
Naip2 |
C |
T |
13: 100,298,489 (GRCm39) |
A516T |
possibly damaging |
Het |
Nsmaf |
T |
C |
4: 6,409,884 (GRCm39) |
E663G |
probably benign |
Het |
Ntrk3 |
T |
C |
7: 78,005,822 (GRCm39) |
N513S |
probably damaging |
Het |
Nufip1 |
T |
G |
14: 76,363,692 (GRCm39) |
N305K |
possibly damaging |
Het |
Or10al5 |
C |
T |
17: 38,062,916 (GRCm39) |
T57I |
possibly damaging |
Het |
Or2ag1b |
T |
A |
7: 106,288,918 (GRCm39) |
T7S |
probably benign |
Het |
Or4c10b |
A |
T |
2: 89,711,745 (GRCm39) |
T192S |
probably benign |
Het |
Or51a6 |
T |
A |
7: 102,604,175 (GRCm39) |
D218V |
probably benign |
Het |
Or9r3 |
A |
T |
10: 129,947,872 (GRCm39) |
Y262* |
probably null |
Het |
Pi4ka |
A |
G |
16: 17,194,894 (GRCm39) |
V168A |
probably benign |
Het |
Prex2 |
T |
C |
1: 11,301,996 (GRCm39) |
V1433A |
probably damaging |
Het |
Prl7a1 |
A |
T |
13: 27,817,612 (GRCm39) |
D217E |
probably damaging |
Het |
Prr3 |
G |
A |
17: 36,285,484 (GRCm39) |
R86* |
probably null |
Het |
Ptprz1 |
T |
C |
6: 23,049,605 (GRCm39) |
F1350L |
probably damaging |
Het |
R3hcc1l |
T |
C |
19: 42,552,046 (GRCm39) |
S348P |
possibly damaging |
Het |
Rag2 |
A |
T |
2: 101,459,960 (GRCm39) |
Q90L |
probably benign |
Het |
Scel |
T |
C |
14: 103,770,752 (GRCm39) |
L62P |
probably damaging |
Het |
Serpini1 |
A |
T |
3: 75,521,977 (GRCm39) |
E156V |
possibly damaging |
Het |
Skint4 |
T |
A |
4: 111,993,240 (GRCm39) |
I321K |
possibly damaging |
Het |
Slc28a2 |
A |
G |
2: 122,286,098 (GRCm39) |
D478G |
probably damaging |
Het |
Sppl2b |
G |
T |
10: 80,700,965 (GRCm39) |
V164F |
probably damaging |
Het |
Traf5 |
T |
A |
1: 191,729,470 (GRCm39) |
N527I |
probably benign |
Het |
Ttc3 |
T |
A |
16: 94,244,176 (GRCm39) |
D17E |
probably benign |
Het |
Txlnb |
G |
A |
10: 17,682,521 (GRCm39) |
A148T |
possibly damaging |
Het |
Ubtf |
A |
G |
11: 102,201,757 (GRCm39) |
Y256H |
probably damaging |
Het |
Usp25 |
T |
C |
16: 76,868,559 (GRCm39) |
F320S |
possibly damaging |
Het |
Utp14b |
T |
C |
1: 78,643,656 (GRCm39) |
V518A |
probably benign |
Het |
Utp20 |
A |
G |
10: 88,593,834 (GRCm39) |
V2192A |
possibly damaging |
Het |
Vmn1r173 |
T |
A |
7: 23,402,533 (GRCm39) |
M256K |
probably benign |
Het |
Vmn2r114 |
T |
A |
17: 23,515,962 (GRCm39) |
M510L |
probably benign |
Het |
Xdh |
T |
A |
17: 74,233,547 (GRCm39) |
Q189L |
probably benign |
Het |
Zfat |
C |
T |
15: 68,051,959 (GRCm39) |
A605T |
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 |
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 |
2014-04-24 |