Incidental Mutation 'R4671:Fabp3'
ID |
348416 |
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 |
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R4671 (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: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.4%
|
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: 68 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcc2 |
T |
C |
19: 43,789,157 (GRCm39) |
S271P |
probably benign |
Het |
Acod1 |
T |
G |
14: 103,284,508 (GRCm39) |
M2R |
probably benign |
Het |
Adamts20 |
T |
C |
15: 94,301,206 (GRCm39) |
E106G |
possibly damaging |
Het |
Adgra3 |
G |
A |
5: 50,136,710 (GRCm39) |
T661M |
probably damaging |
Het |
Akap13 |
T |
A |
7: 75,229,312 (GRCm39) |
C161* |
probably null |
Het |
Akr1c12 |
A |
C |
13: 4,323,816 (GRCm39) |
S162A |
possibly damaging |
Het |
Anks1 |
C |
A |
17: 28,270,552 (GRCm39) |
H805N |
probably benign |
Het |
Arhgap22 |
T |
C |
14: 33,084,500 (GRCm39) |
C260R |
probably damaging |
Het |
Banf1 |
T |
C |
19: 5,415,872 (GRCm39) |
R33G |
probably benign |
Het |
Bcas1 |
T |
C |
2: 170,226,245 (GRCm39) |
K310R |
probably damaging |
Het |
Cacna1c |
G |
T |
6: 118,629,019 (GRCm39) |
H1240N |
probably damaging |
Het |
Cartpt |
C |
T |
13: 100,036,588 (GRCm39) |
|
probably null |
Het |
Ccdc127 |
T |
A |
13: 74,505,164 (GRCm39) |
Y237* |
probably null |
Het |
Ccnb1ip1 |
A |
T |
14: 51,029,734 (GRCm39) |
Y109* |
probably null |
Het |
Cenpj |
A |
T |
14: 56,790,840 (GRCm39) |
V403E |
possibly damaging |
Het |
Cps1 |
A |
G |
1: 67,235,719 (GRCm39) |
Y951C |
probably damaging |
Het |
Dcakd |
T |
C |
11: 102,890,634 (GRCm39) |
E51G |
possibly damaging |
Het |
Dennd4a |
A |
T |
9: 64,801,689 (GRCm39) |
N944I |
probably benign |
Het |
Dus3l |
C |
T |
17: 57,075,566 (GRCm39) |
R430C |
probably benign |
Het |
Dync2h1 |
A |
G |
9: 7,169,640 (GRCm39) |
L279P |
possibly damaging |
Het |
Dzip3 |
G |
A |
16: 48,799,953 (GRCm39) |
Q112* |
probably null |
Het |
Eif1ad |
T |
A |
19: 5,418,219 (GRCm39) |
M1K |
probably null |
Het |
Fancg |
T |
C |
4: 43,005,272 (GRCm39) |
E366G |
probably benign |
Het |
Gin1 |
C |
T |
1: 97,712,565 (GRCm39) |
P154S |
probably damaging |
Het |
Gm11938 |
A |
T |
11: 99,493,832 (GRCm39) |
C88S |
possibly damaging |
Het |
Gpr183 |
T |
C |
14: 122,192,149 (GRCm39) |
D124G |
probably damaging |
Het |
Gucy2g |
T |
A |
19: 55,226,500 (GRCm39) |
I139F |
probably damaging |
Het |
Iqub |
A |
T |
6: 24,479,183 (GRCm39) |
M453K |
probably benign |
Het |
Jcad |
A |
G |
18: 4,674,175 (GRCm39) |
T646A |
probably benign |
Het |
Kif23 |
A |
T |
9: 61,852,641 (GRCm39) |
D24E |
probably benign |
Het |
Kmt2c |
T |
C |
5: 25,571,175 (GRCm39) |
N845S |
probably damaging |
Het |
Lhx5 |
G |
A |
5: 120,578,032 (GRCm39) |
S284N |
probably benign |
Het |
Lipf |
T |
G |
19: 33,954,076 (GRCm39) |
V389G |
possibly damaging |
Het |
Lrrc7 |
C |
T |
3: 157,908,132 (GRCm39) |
|
probably null |
Het |
Magi1 |
A |
G |
6: 93,657,768 (GRCm39) |
|
probably null |
Het |
Mast2 |
A |
G |
4: 116,165,847 (GRCm39) |
S1287P |
probably damaging |
Het |
Mepce |
C |
T |
5: 137,784,905 (GRCm39) |
|
probably benign |
Het |
Mkrn1 |
A |
G |
6: 39,382,691 (GRCm39) |
V173A |
probably damaging |
Het |
Myo1c |
C |
T |
11: 75,560,856 (GRCm39) |
R770* |
probably null |
Het |
Naip6 |
A |
G |
13: 100,431,239 (GRCm39) |
|
probably null |
Het |
Nsmce3 |
A |
T |
7: 64,522,530 (GRCm39) |
L46Q |
probably benign |
Het |
Or1n2 |
G |
A |
2: 36,797,405 (GRCm39) |
C149Y |
probably benign |
Het |
Or2j6 |
T |
G |
7: 139,980,218 (GRCm39) |
Y247S |
probably damaging |
Het |
Or4k44 |
A |
T |
2: 111,368,280 (GRCm39) |
M118K |
probably damaging |
Het |
Or51e2 |
A |
G |
7: 102,391,808 (GRCm39) |
V134A |
probably damaging |
Het |
Or56a3b |
T |
C |
7: 104,771,513 (GRCm39) |
L283P |
probably damaging |
Het |
Parp14 |
A |
G |
16: 35,678,691 (GRCm39) |
F426L |
probably benign |
Het |
Pcf11 |
A |
T |
7: 92,306,737 (GRCm39) |
S1144T |
possibly damaging |
Het |
Prpf3 |
T |
A |
3: 95,758,976 (GRCm39) |
T59S |
possibly damaging |
Het |
Ptgir |
A |
G |
7: 16,640,794 (GRCm39) |
M29V |
possibly damaging |
Het |
Ptk7 |
A |
G |
17: 46,885,392 (GRCm39) |
V678A |
probably benign |
Het |
Rb1 |
A |
G |
14: 73,511,116 (GRCm39) |
L331S |
probably damaging |
Het |
Relch |
A |
G |
1: 105,646,584 (GRCm39) |
I637V |
probably benign |
Het |
Sell |
A |
G |
1: 163,893,042 (GRCm39) |
Y86C |
probably damaging |
Het |
Serpina1e |
G |
A |
12: 103,914,341 (GRCm39) |
R328W |
probably damaging |
Het |
Sertad3 |
T |
G |
7: 27,176,091 (GRCm39) |
L175R |
possibly damaging |
Het |
Stard9 |
G |
T |
2: 120,529,121 (GRCm39) |
G1793W |
probably damaging |
Het |
Stra6 |
T |
C |
9: 58,056,517 (GRCm39) |
I383T |
probably benign |
Het |
Tcf7l1 |
A |
G |
6: 72,626,161 (GRCm39) |
L154P |
probably damaging |
Het |
Tent5c |
C |
A |
3: 100,380,515 (GRCm39) |
L80F |
probably benign |
Het |
Tonsl |
A |
T |
15: 76,507,610 (GRCm39) |
D55E |
probably benign |
Het |
Ttc21b |
A |
G |
2: 66,057,257 (GRCm39) |
S572P |
possibly damaging |
Het |
Ttc7 |
T |
A |
17: 87,654,048 (GRCm39) |
L575Q |
probably damaging |
Het |
Ubl4b |
C |
T |
3: 107,462,194 (GRCm39) |
S22N |
probably damaging |
Het |
Ubr4 |
T |
C |
4: 139,163,502 (GRCm39) |
V2634A |
possibly damaging |
Het |
Zbed6 |
A |
G |
1: 133,584,778 (GRCm39) |
V853A |
probably benign |
Het |
Zfp46 |
A |
C |
4: 136,017,484 (GRCm39) |
D106A |
probably damaging |
Het |
Zfp951 |
A |
C |
5: 104,962,567 (GRCm39) |
I333S |
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 |
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 |
|
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'- CTAGGCCACAAACTTCTCTTTGG -3'
(R):5'- ATACTTAGTCCCTGGGCCATC -3'
Sequencing Primer
(F):5'- GGGTCTATATAACACGTCTCTACC -3'
(R):5'- CACTGAGCAGGCTTTATGAACCTG -3'
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Posted On |
2015-10-08 |