Incidental Mutation 'R1709:Fabp3'
ID |
190298 |
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 |
039742-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R1709 (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: 99.1%
- 3x: 98.4%
- 10x: 96.4%
- 20x: 92.9%
|
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: 94 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aacs |
A |
G |
5: 125,566,942 (GRCm39) |
K152E |
probably benign |
Het |
Adgrd1 |
T |
C |
5: 129,256,292 (GRCm39) |
V641A |
possibly damaging |
Het |
Adgrv1 |
A |
T |
13: 81,741,179 (GRCm39) |
V95E |
probably damaging |
Het |
Agbl5 |
G |
A |
5: 31,063,585 (GRCm39) |
C872Y |
probably damaging |
Het |
Aldh1a7 |
G |
T |
19: 20,693,316 (GRCm39) |
T201K |
probably damaging |
Het |
Aox1 |
C |
T |
1: 58,116,633 (GRCm39) |
A788V |
probably benign |
Het |
Apob |
T |
C |
12: 8,059,306 (GRCm39) |
V2563A |
probably damaging |
Het |
Atcay |
G |
A |
10: 81,049,065 (GRCm39) |
T179I |
probably damaging |
Het |
Atf5 |
A |
T |
7: 44,462,707 (GRCm39) |
L139Q |
probably benign |
Het |
Atp13a3 |
T |
C |
16: 30,134,659 (GRCm39) |
T1205A |
probably benign |
Het |
Atr |
C |
T |
9: 95,753,129 (GRCm39) |
T656I |
probably benign |
Het |
Bloc1s3 |
T |
C |
7: 19,241,453 (GRCm39) |
E25G |
possibly damaging |
Het |
Brap |
T |
C |
5: 121,803,353 (GRCm39) |
|
probably null |
Het |
C6 |
G |
T |
15: 4,820,452 (GRCm39) |
A488S |
probably benign |
Het |
Ccin |
T |
C |
4: 43,984,133 (GRCm39) |
F180S |
probably damaging |
Het |
Cd207 |
T |
C |
6: 83,649,818 (GRCm39) |
I256V |
possibly damaging |
Het |
Cdc42bpa |
G |
T |
1: 179,894,789 (GRCm39) |
C323F |
probably damaging |
Het |
Cfap57 |
T |
C |
4: 118,428,901 (GRCm39) |
T1022A |
probably benign |
Het |
Cmtr2 |
A |
T |
8: 110,948,581 (GRCm39) |
Q297L |
probably benign |
Het |
Coro7 |
A |
T |
16: 4,452,305 (GRCm39) |
|
probably null |
Het |
Cpsf2 |
T |
A |
12: 101,965,801 (GRCm39) |
Y589N |
probably damaging |
Het |
Cpxm2 |
T |
C |
7: 131,661,563 (GRCm39) |
Y408C |
probably damaging |
Het |
Crocc |
A |
G |
4: 140,753,410 (GRCm39) |
|
probably null |
Het |
Cryzl1 |
A |
C |
16: 91,509,124 (GRCm39) |
F59C |
probably damaging |
Het |
Csmd2 |
T |
C |
4: 128,389,988 (GRCm39) |
V2241A |
probably damaging |
Het |
Cxcl15 |
C |
A |
5: 90,949,275 (GRCm39) |
H147N |
unknown |
Het |
Dennd4a |
A |
G |
9: 64,796,887 (GRCm39) |
T860A |
possibly damaging |
Het |
Dnah10 |
C |
T |
5: 124,837,155 (GRCm39) |
P966L |
probably damaging |
Het |
Dpp9 |
T |
A |
17: 56,501,431 (GRCm39) |
M594L |
probably benign |
Het |
Dspp |
C |
A |
5: 104,323,590 (GRCm39) |
N244K |
probably damaging |
Het |
Efcab8 |
T |
A |
2: 153,656,290 (GRCm39) |
|
probably null |
Het |
Elapor2 |
C |
T |
5: 9,490,726 (GRCm39) |
R579* |
probably null |
Het |
Fbxw17 |
A |
G |
13: 50,585,693 (GRCm39) |
M299V |
probably benign |
Het |
Fbxw7 |
T |
A |
3: 84,883,659 (GRCm39) |
I530N |
probably damaging |
Het |
Gp2 |
C |
A |
7: 119,050,808 (GRCm39) |
D308Y |
probably null |
Het |
Gpd2 |
G |
A |
2: 57,247,667 (GRCm39) |
V537M |
probably damaging |
Het |
Gpr18 |
T |
A |
14: 122,149,404 (GRCm39) |
Y207F |
probably damaging |
Het |
Grip1 |
A |
T |
10: 119,733,620 (GRCm39) |
D20V |
probably damaging |
Het |
Gzmf |
A |
C |
14: 56,444,397 (GRCm39) |
F59V |
probably damaging |
Het |
H3c1 |
T |
A |
13: 23,945,964 (GRCm39) |
I125F |
probably damaging |
Het |
Igfn1 |
T |
C |
1: 135,883,311 (GRCm39) |
I2732V |
probably benign |
Het |
Ipo8 |
A |
T |
6: 148,684,226 (GRCm39) |
D855E |
probably benign |
Het |
Klrk1 |
A |
T |
6: 129,591,682 (GRCm39) |
|
probably null |
Het |
Megf11 |
A |
G |
9: 64,602,694 (GRCm39) |
Y876C |
probably damaging |
Het |
Mettl8 |
G |
T |
2: 70,812,495 (GRCm39) |
Q12K |
probably benign |
Het |
Mrgprf |
T |
C |
7: 144,861,954 (GRCm39) |
F172S |
probably benign |
Het |
Mycbp2 |
G |
A |
14: 103,461,852 (GRCm39) |
T1432I |
probably damaging |
Het |
Nek11 |
A |
C |
9: 105,225,260 (GRCm39) |
L84R |
probably damaging |
Het |
Nlrp1b |
T |
C |
11: 71,092,099 (GRCm39) |
E9G |
probably benign |
Het |
Nrxn1 |
T |
C |
17: 90,344,615 (GRCm39) |
I433V |
probably damaging |
Het |
Nup153 |
A |
G |
13: 46,847,450 (GRCm39) |
C660R |
probably damaging |
Het |
Or1o11 |
T |
A |
17: 37,757,091 (GRCm39) |
Y226* |
probably null |
Het |
Or2a25 |
T |
C |
6: 42,889,078 (GRCm39) |
V207A |
possibly damaging |
Het |
Or4z4 |
G |
T |
19: 12,076,245 (GRCm39) |
P253T |
probably damaging |
Het |
Or5h26 |
T |
A |
16: 58,988,264 (GRCm39) |
M81L |
probably benign |
Het |
P2rx7 |
T |
A |
5: 122,808,528 (GRCm39) |
N303K |
possibly damaging |
Het |
Pank4 |
T |
C |
4: 155,054,504 (GRCm39) |
L159P |
probably damaging |
Het |
Pcdhb22 |
A |
T |
18: 37,651,553 (GRCm39) |
H7L |
probably benign |
Het |
Pdzd8 |
A |
T |
19: 59,289,771 (GRCm39) |
I543N |
probably benign |
Het |
Pramel25 |
T |
C |
4: 143,520,116 (GRCm39) |
V120A |
possibly damaging |
Het |
Prrc2b |
C |
A |
2: 32,084,473 (GRCm39) |
R313S |
probably damaging |
Het |
Rbm12b1 |
T |
C |
4: 12,145,827 (GRCm39) |
C600R |
probably benign |
Het |
Rem1 |
G |
A |
2: 152,476,455 (GRCm39) |
V238M |
probably damaging |
Het |
Rfx6 |
T |
A |
10: 51,554,498 (GRCm39) |
M113K |
possibly damaging |
Het |
Rlf |
A |
T |
4: 121,007,020 (GRCm39) |
D653E |
probably benign |
Het |
Rnf130 |
A |
G |
11: 49,978,213 (GRCm39) |
D258G |
possibly damaging |
Het |
Robo2 |
A |
G |
16: 73,753,411 (GRCm39) |
V822A |
possibly damaging |
Het |
Rps6kc1 |
G |
T |
1: 190,532,533 (GRCm39) |
Q490K |
possibly damaging |
Het |
Scn9a |
T |
C |
2: 66,313,850 (GRCm39) |
Y1945C |
probably damaging |
Het |
Setd2 |
T |
A |
9: 110,378,925 (GRCm39) |
D913E |
probably benign |
Het |
Sfr1 |
G |
T |
19: 47,723,442 (GRCm39) |
E315D |
possibly damaging |
Het |
Smarca5 |
G |
A |
8: 81,435,849 (GRCm39) |
R763* |
probably null |
Het |
Sugct |
A |
C |
13: 17,847,151 (GRCm39) |
I44S |
probably damaging |
Het |
Syce1l |
A |
G |
8: 114,380,662 (GRCm39) |
|
probably null |
Het |
Tbc1d8b |
A |
G |
X: 138,634,829 (GRCm39) |
I654V |
probably benign |
Het |
Tcf23 |
T |
A |
5: 31,130,852 (GRCm39) |
Y163* |
probably null |
Het |
Terf2ip |
TG |
T |
8: 112,738,238 (GRCm39) |
|
probably null |
Het |
Tmem158 |
T |
C |
9: 123,088,950 (GRCm39) |
S221G |
possibly damaging |
Het |
Tnrc6a |
A |
G |
7: 122,769,205 (GRCm39) |
T332A |
probably benign |
Het |
Trappc4 |
T |
C |
9: 44,318,508 (GRCm39) |
T31A |
probably benign |
Het |
Trim27 |
T |
C |
13: 21,372,235 (GRCm39) |
|
probably null |
Het |
Ttyh2 |
T |
A |
11: 114,599,301 (GRCm39) |
L330Q |
probably damaging |
Het |
Tubgcp3 |
A |
T |
8: 12,689,532 (GRCm39) |
L578* |
probably null |
Het |
Txndc11 |
C |
A |
16: 10,946,565 (GRCm39) |
E83* |
probably null |
Het |
Utp20 |
T |
C |
10: 88,585,159 (GRCm39) |
K2635R |
probably benign |
Het |
V1ra8 |
C |
T |
6: 90,180,304 (GRCm39) |
T169I |
probably damaging |
Het |
Vcl |
G |
A |
14: 21,069,441 (GRCm39) |
V706I |
probably benign |
Het |
Vmn2r106 |
A |
T |
17: 20,499,373 (GRCm39) |
D179E |
probably benign |
Het |
Vmn2r80 |
T |
C |
10: 79,030,223 (GRCm39) |
M683T |
probably benign |
Het |
Xirp2 |
A |
G |
2: 67,340,215 (GRCm39) |
I819V |
probably benign |
Het |
Zfp735 |
T |
C |
11: 73,602,589 (GRCm39) |
F511S |
probably benign |
Het |
Zfp831 |
T |
C |
2: 174,487,683 (GRCm39) |
V786A |
probably benign |
Het |
Zfp992 |
T |
A |
4: 146,550,949 (GRCm39) |
H223Q |
probably benign |
Het |
Zfyve19 |
A |
C |
2: 119,041,300 (GRCm39) |
Q72P |
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 |
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 |
2014-05-14 |