Incidental Mutation 'R5015:Fabp3'
ID |
385486 |
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 |
042606-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R5015 (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: 98.3%
- 3x: 97.3%
- 10x: 95.2%
- 20x: 91.3%
|
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: 80 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adam25 |
T |
A |
8: 41,207,671 (GRCm39) |
F312L |
probably benign |
Het |
Adprm |
A |
G |
11: 66,932,856 (GRCm39) |
F18L |
possibly damaging |
Het |
Ampd1 |
T |
G |
3: 103,006,981 (GRCm39) |
N735K |
possibly damaging |
Het |
Arsi |
G |
A |
18: 61,049,723 (GRCm39) |
G202E |
probably benign |
Het |
Atp1a4 |
T |
C |
1: 172,081,649 (GRCm39) |
M168V |
probably damaging |
Het |
Bcl6 |
G |
A |
16: 23,793,600 (GRCm39) |
H116Y |
probably damaging |
Het |
Bmpr2 |
T |
A |
1: 59,890,383 (GRCm39) |
N338K |
probably damaging |
Het |
Bms1 |
A |
T |
6: 118,381,224 (GRCm39) |
Y697* |
probably null |
Het |
Ccdc33 |
A |
C |
9: 58,025,918 (GRCm39) |
F37C |
probably damaging |
Het |
Ccdc60 |
T |
A |
5: 116,426,507 (GRCm39) |
Q30L |
probably benign |
Het |
Cndp1 |
C |
A |
18: 84,650,036 (GRCm39) |
R219L |
probably damaging |
Het |
Cstdc4 |
T |
C |
16: 36,006,837 (GRCm39) |
|
probably null |
Het |
Daam2 |
C |
A |
17: 49,783,550 (GRCm39) |
D627Y |
probably damaging |
Het |
Dffb |
T |
C |
4: 154,057,416 (GRCm39) |
D87G |
possibly damaging |
Het |
Dnah2 |
T |
G |
11: 69,388,708 (GRCm39) |
T892P |
possibly damaging |
Het |
Dqx1 |
A |
G |
6: 83,043,092 (GRCm39) |
T610A |
probably benign |
Het |
Dspp |
A |
T |
5: 104,324,926 (GRCm39) |
I430L |
possibly damaging |
Het |
Dytn |
T |
A |
1: 63,672,854 (GRCm39) |
K516N |
probably benign |
Het |
Fmnl2 |
T |
A |
2: 52,993,773 (GRCm39) |
N389K |
possibly damaging |
Het |
Fn1 |
G |
A |
1: 71,665,336 (GRCm39) |
T927I |
probably damaging |
Het |
Foxn1 |
T |
C |
11: 78,261,989 (GRCm39) |
K127E |
probably damaging |
Het |
Fpr-rs6 |
A |
G |
17: 20,402,608 (GRCm39) |
F251S |
probably damaging |
Het |
Frrs1 |
A |
G |
3: 116,672,088 (GRCm39) |
D62G |
probably damaging |
Het |
Fut10 |
T |
A |
8: 31,726,148 (GRCm39) |
V301D |
probably damaging |
Het |
Gk5 |
A |
G |
9: 96,059,470 (GRCm39) |
|
probably null |
Het |
Glipr1l1 |
T |
A |
10: 111,914,279 (GRCm39) |
N213K |
probably benign |
Het |
Gm1110 |
A |
G |
9: 26,793,162 (GRCm39) |
F538S |
probably benign |
Het |
Gm7347 |
T |
A |
5: 26,262,366 (GRCm39) |
T52S |
probably benign |
Het |
Gsap |
T |
C |
5: 21,427,406 (GRCm39) |
I178T |
probably damaging |
Het |
H1f9 |
C |
A |
11: 94,858,928 (GRCm39) |
N74K |
probably damaging |
Het |
Hcn1 |
A |
T |
13: 117,739,556 (GRCm39) |
Q106L |
unknown |
Het |
Isg20l2 |
G |
T |
3: 87,839,288 (GRCm39) |
L166F |
possibly damaging |
Het |
Kcnq3 |
T |
A |
15: 65,876,612 (GRCm39) |
E510D |
probably damaging |
Het |
Kif26b |
G |
T |
1: 178,755,895 (GRCm39) |
R2003L |
probably damaging |
Het |
Kiss1r |
T |
C |
10: 79,754,641 (GRCm39) |
V45A |
probably damaging |
Het |
Krt14 |
G |
A |
11: 100,098,032 (GRCm39) |
R84* |
probably null |
Het |
Mbd5 |
T |
C |
2: 49,148,208 (GRCm39) |
M806T |
possibly damaging |
Het |
Mdga1 |
A |
T |
17: 30,058,847 (GRCm39) |
I13N |
possibly damaging |
Het |
Mfsd4b5 |
T |
C |
10: 39,850,758 (GRCm39) |
K73E |
probably benign |
Het |
Mterf2 |
C |
T |
10: 84,955,596 (GRCm39) |
G343R |
probably benign |
Het |
Mto1 |
T |
A |
9: 78,368,903 (GRCm39) |
F522I |
probably benign |
Het |
Myo18b |
T |
C |
5: 112,937,923 (GRCm39) |
E1734G |
probably damaging |
Het |
Myoz1 |
T |
C |
14: 20,703,787 (GRCm39) |
T53A |
probably benign |
Het |
Naxd |
T |
C |
8: 11,563,032 (GRCm39) |
L324P |
probably damaging |
Het |
Nos1 |
T |
A |
5: 118,005,334 (GRCm39) |
V18D |
probably damaging |
Het |
Nova1 |
T |
C |
12: 46,863,738 (GRCm39) |
T71A |
unknown |
Het |
Or10v5 |
T |
C |
19: 11,805,482 (GRCm39) |
R303G |
probably benign |
Het |
Or10z1 |
A |
G |
1: 174,078,448 (GRCm39) |
L15S |
possibly damaging |
Het |
Or1e29 |
C |
G |
11: 73,668,007 (GRCm39) |
V49L |
probably benign |
Het |
Or2j6 |
T |
C |
7: 139,980,083 (GRCm39) |
D292G |
probably damaging |
Het |
Or52b1 |
A |
G |
7: 104,978,811 (GRCm39) |
V196A |
possibly damaging |
Het |
Otof |
T |
A |
5: 30,540,238 (GRCm39) |
Y981F |
probably damaging |
Het |
Peg10 |
C |
CTCA |
6: 4,756,453 (GRCm39) |
|
probably benign |
Het |
Pex1 |
A |
G |
5: 3,670,597 (GRCm39) |
K7E |
probably damaging |
Het |
Pi4ka |
A |
G |
16: 17,120,946 (GRCm39) |
S73P |
possibly damaging |
Het |
Plxnb1 |
T |
A |
9: 108,929,498 (GRCm39) |
I118N |
possibly damaging |
Het |
Prcc |
T |
C |
3: 87,779,560 (GRCm39) |
D158G |
probably damaging |
Het |
Ptpn7 |
C |
A |
1: 135,066,877 (GRCm39) |
R245S |
possibly damaging |
Het |
Ptpre |
C |
T |
7: 135,270,861 (GRCm39) |
H346Y |
probably benign |
Het |
Pwp2 |
A |
G |
10: 78,018,527 (GRCm39) |
C86R |
probably benign |
Het |
Rfng |
T |
G |
11: 120,673,876 (GRCm39) |
D178A |
probably damaging |
Het |
Rhpn1 |
T |
C |
15: 75,580,090 (GRCm39) |
I51T |
probably damaging |
Het |
Rnasel |
G |
T |
1: 153,629,843 (GRCm39) |
E120* |
probably null |
Het |
Sall2 |
T |
G |
14: 52,553,112 (GRCm39) |
S26R |
possibly damaging |
Het |
Scn10a |
A |
G |
9: 119,451,987 (GRCm39) |
V1312A |
possibly damaging |
Het |
Sdk2 |
C |
A |
11: 113,684,587 (GRCm39) |
R1958L |
probably damaging |
Het |
Septin4 |
C |
T |
11: 87,458,043 (GRCm39) |
S139F |
possibly damaging |
Het |
Slc52a2 |
T |
A |
15: 76,424,751 (GRCm39) |
C330S |
probably damaging |
Het |
Smarca2 |
T |
A |
19: 26,668,788 (GRCm39) |
I987N |
possibly damaging |
Het |
Srrt |
A |
T |
5: 137,294,271 (GRCm39) |
Y486N |
probably damaging |
Het |
Stat5b |
A |
T |
11: 100,695,831 (GRCm39) |
N50K |
possibly damaging |
Het |
Strip2 |
T |
A |
6: 29,931,265 (GRCm39) |
D405E |
probably benign |
Het |
Tcstv6 |
T |
A |
13: 120,298,474 (GRCm39) |
|
probably null |
Het |
Tnc |
A |
T |
4: 63,924,739 (GRCm39) |
D986E |
probably damaging |
Het |
Tph2 |
T |
C |
10: 114,915,621 (GRCm39) |
N473S |
probably benign |
Het |
Tpp1 |
C |
T |
7: 105,401,232 (GRCm39) |
|
probably benign |
Het |
Trpm3 |
T |
C |
19: 22,689,076 (GRCm39) |
Y2H |
probably damaging |
Het |
Ttc21a |
A |
T |
9: 119,795,195 (GRCm39) |
E1072V |
probably damaging |
Het |
Zfat |
T |
C |
15: 68,050,762 (GRCm39) |
D753G |
probably damaging |
Het |
Zmym2 |
T |
A |
14: 57,159,051 (GRCm39) |
S609T |
probably 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 |
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 |
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'- GCCTAGGCCACAAACTTCTC -3'
(R):5'- ATACTTAGTCCCTGGGCCATCG -3'
Sequencing Primer
(F):5'- AGGCCACAAACTTCTCTTTGGG -3'
(R):5'- CACTGAGCAGGCTTTATGAACCTG -3'
|
Posted On |
2016-05-10 |