Incidental Mutation 'R1114:Fabp3'
| ID |
97018 |
| 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 |
039187-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R1114 (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: 98.7%
- 3x: 97.5%
- 10x: 93.5%
- 20x: 84.2%
|
| Validation Efficiency |
100% (47/47) |
| 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: 41 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700128F08Rik |
T |
A |
9: 8,222,179 (GRCm39) |
|
noncoding transcript |
Het |
| Acss3 |
T |
A |
10: 106,824,740 (GRCm39) |
R422S |
possibly damaging |
Het |
| Asb15 |
G |
A |
6: 24,567,176 (GRCm39) |
R499H |
probably damaging |
Het |
| Aspm |
C |
T |
1: 139,389,662 (GRCm39) |
|
probably benign |
Het |
| Camk2d |
G |
A |
3: 126,633,941 (GRCm39) |
V488M |
probably damaging |
Het |
| Cd247 |
A |
G |
1: 165,616,407 (GRCm39) |
K4E |
probably benign |
Het |
| Cdh20 |
A |
G |
1: 104,906,739 (GRCm39) |
D522G |
probably damaging |
Het |
| Cse1l |
T |
A |
2: 166,783,123 (GRCm39) |
|
probably benign |
Het |
| Dctn2 |
T |
A |
10: 127,114,011 (GRCm39) |
|
probably null |
Het |
| Dpy19l1 |
A |
T |
9: 24,336,072 (GRCm39) |
F545I |
probably benign |
Het |
| Dpy19l4 |
A |
G |
4: 11,287,643 (GRCm39) |
|
probably benign |
Het |
| Dsg4 |
A |
T |
18: 20,599,540 (GRCm39) |
T719S |
possibly damaging |
Het |
| Dusp12 |
A |
C |
1: 170,708,586 (GRCm39) |
V48G |
probably damaging |
Het |
| Efcab7 |
A |
T |
4: 99,735,452 (GRCm39) |
R159* |
probably null |
Het |
| Fbxw20 |
A |
G |
9: 109,052,550 (GRCm39) |
V261A |
probably damaging |
Het |
| Gtf3c3 |
C |
T |
1: 54,456,937 (GRCm39) |
A488T |
probably damaging |
Het |
| Inpp5j |
C |
A |
11: 3,444,814 (GRCm39) |
R953L |
possibly damaging |
Het |
| Itprid2 |
A |
G |
2: 79,487,873 (GRCm39) |
E652G |
probably damaging |
Het |
| Lrrk2 |
C |
T |
15: 91,584,671 (GRCm39) |
R363* |
probably null |
Het |
| Ltbp1 |
A |
G |
17: 75,667,770 (GRCm39) |
D1089G |
probably benign |
Het |
| Luc7l |
T |
C |
17: 26,494,832 (GRCm39) |
|
probably benign |
Het |
| Mdn1 |
G |
A |
4: 32,746,568 (GRCm39) |
|
probably null |
Het |
| Mgat4a |
A |
T |
1: 37,503,487 (GRCm39) |
|
probably benign |
Het |
| Mmp12 |
A |
G |
9: 7,358,289 (GRCm39) |
T392A |
possibly damaging |
Het |
| Nlrp12 |
A |
G |
7: 3,277,166 (GRCm39) |
V921A |
probably benign |
Het |
| Or5m5 |
A |
T |
2: 85,814,651 (GRCm39) |
I156F |
probably benign |
Het |
| Or5t7 |
G |
A |
2: 86,507,629 (GRCm39) |
T16I |
possibly damaging |
Het |
| Or6c8b |
T |
A |
10: 128,882,711 (GRCm39) |
I74F |
possibly damaging |
Het |
| Pkd2l1 |
T |
C |
19: 44,179,983 (GRCm39) |
|
probably benign |
Het |
| Pramel24 |
A |
G |
4: 143,453,425 (GRCm39) |
I178V |
probably benign |
Het |
| Rictor |
C |
A |
15: 6,823,486 (GRCm39) |
C1554* |
probably null |
Het |
| Ryr2 |
A |
G |
13: 11,960,867 (GRCm39) |
C24R |
probably damaging |
Het |
| Scamp2 |
T |
A |
9: 57,488,863 (GRCm39) |
I188N |
probably damaging |
Het |
| Smg1 |
A |
T |
7: 117,759,013 (GRCm39) |
|
probably benign |
Het |
| Sned1 |
G |
A |
1: 93,209,376 (GRCm39) |
V830M |
possibly damaging |
Het |
| Synrg |
C |
A |
11: 83,914,262 (GRCm39) |
|
probably benign |
Het |
| Syt9 |
G |
T |
7: 107,024,562 (GRCm39) |
V152F |
possibly damaging |
Het |
| Trmt2a |
A |
G |
16: 18,068,304 (GRCm39) |
|
probably benign |
Het |
| Vmn2r100 |
T |
C |
17: 19,752,261 (GRCm39) |
I831T |
probably damaging |
Het |
| Vps13a |
G |
T |
19: 16,727,515 (GRCm39) |
H196N |
probably benign |
Het |
| Xdh |
T |
C |
17: 74,248,144 (GRCm39) |
|
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 |
|
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 |
|
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 |
2014-01-05 |
Incidental Mutation