Incidental Mutation 'R1935:Fabp3'
| ID |
215894 |
| 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 |
039953-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R1935 (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: 97.3%
- 3x: 96.7%
- 10x: 94.9%
- 20x: 91.6%
|
| Validation Efficiency |
95% (95/100) |
| 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: 89 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca4 |
G |
A |
3: 121,846,572 (GRCm39) |
V30M |
probably benign |
Het |
| Abcg8 |
C |
T |
17: 85,002,417 (GRCm39) |
|
probably benign |
Het |
| Ablim1 |
T |
A |
19: 57,204,397 (GRCm39) |
|
probably null |
Het |
| Acvr1c |
A |
T |
2: 58,173,517 (GRCm39) |
N248K |
probably damaging |
Het |
| Adgrf3 |
A |
T |
5: 30,407,304 (GRCm39) |
N207K |
probably benign |
Het |
| Anapc4 |
T |
A |
5: 52,997,010 (GRCm39) |
D94E |
probably damaging |
Het |
| Arfgef2 |
A |
G |
2: 166,705,523 (GRCm39) |
N918S |
probably benign |
Het |
| Arhgap45 |
A |
G |
10: 79,866,788 (GRCm39) |
N1097S |
probably damaging |
Het |
| Atf2 |
G |
A |
2: 73,676,563 (GRCm39) |
P184S |
probably damaging |
Het |
| Atg2a |
A |
G |
19: 6,302,566 (GRCm39) |
Y963C |
probably damaging |
Het |
| Atp8a2 |
T |
C |
14: 60,097,719 (GRCm39) |
K770E |
probably benign |
Het |
| Atrn |
T |
C |
2: 130,799,955 (GRCm39) |
V444A |
probably damaging |
Het |
| Avpr1a |
G |
A |
10: 122,285,695 (GRCm39) |
|
probably null |
Het |
| Best3 |
A |
C |
10: 116,860,291 (GRCm39) |
Q517P |
probably benign |
Het |
| C3 |
A |
G |
17: 57,525,829 (GRCm39) |
L851P |
probably damaging |
Het |
| Cacna2d2 |
T |
C |
9: 107,386,455 (GRCm39) |
F194S |
probably damaging |
Het |
| Carns1 |
T |
C |
19: 4,215,473 (GRCm39) |
E903G |
probably damaging |
Het |
| Chn1 |
A |
G |
2: 73,455,245 (GRCm39) |
C39R |
probably damaging |
Het |
| Ciao1 |
A |
G |
2: 127,088,380 (GRCm39) |
S148P |
possibly damaging |
Het |
| Clrn3 |
A |
C |
7: 135,115,753 (GRCm39) |
I199S |
possibly damaging |
Het |
| Cngb1 |
C |
A |
8: 96,026,320 (GRCm39) |
G154W |
probably damaging |
Het |
| Cnot2 |
G |
C |
10: 116,334,320 (GRCm39) |
P274R |
possibly damaging |
Het |
| Cops7a |
G |
A |
6: 124,939,359 (GRCm39) |
R97* |
probably null |
Het |
| Coro7 |
T |
C |
16: 4,446,596 (GRCm39) |
E843G |
probably benign |
Het |
| Crocc |
T |
C |
4: 140,761,369 (GRCm39) |
R755G |
possibly damaging |
Het |
| Crtam |
G |
C |
9: 40,915,846 (GRCm39) |
P13A |
probably benign |
Het |
| Ddrgk1 |
G |
T |
2: 130,505,480 (GRCm39) |
|
probably benign |
Het |
| Defb26 |
T |
A |
2: 152,350,195 (GRCm39) |
K28N |
possibly damaging |
Het |
| Dnah8 |
G |
A |
17: 30,945,870 (GRCm39) |
|
probably benign |
Het |
| Dnah8 |
A |
G |
17: 30,854,479 (GRCm39) |
E47G |
unknown |
Het |
| Dnhd1 |
A |
T |
7: 105,323,183 (GRCm39) |
M564L |
probably benign |
Het |
| Dusp15 |
A |
G |
2: 152,787,341 (GRCm39) |
|
probably benign |
Het |
| Dync2h1 |
A |
G |
9: 7,139,159 (GRCm39) |
|
probably null |
Het |
| Eapp |
A |
T |
12: 54,720,513 (GRCm39) |
M234K |
probably benign |
Het |
| Gfi1b |
T |
C |
2: 28,500,125 (GRCm39) |
K302R |
possibly damaging |
Het |
| Gpatch1 |
A |
G |
7: 34,994,947 (GRCm39) |
S440P |
probably damaging |
Het |
| Gpr6 |
T |
C |
10: 40,947,477 (GRCm39) |
E35G |
probably benign |
Het |
| H2-Q1 |
A |
T |
17: 35,542,469 (GRCm39) |
M305L |
probably benign |
Het |
| Hoxa10 |
C |
A |
6: 52,211,350 (GRCm39) |
G189C |
possibly damaging |
Het |
| Kbtbd4 |
T |
C |
2: 90,737,895 (GRCm39) |
V215A |
probably damaging |
Het |
| Klf16 |
G |
A |
10: 80,412,739 (GRCm39) |
A99V |
probably benign |
Het |
| Lvrn |
A |
T |
18: 47,011,387 (GRCm39) |
Y448F |
probably benign |
Het |
| Med19 |
A |
G |
2: 84,516,002 (GRCm39) |
H177R |
possibly damaging |
Het |
| Mif |
G |
T |
10: 75,695,681 (GRCm39) |
H41N |
possibly damaging |
Het |
| Mpl |
A |
G |
4: 118,312,936 (GRCm39) |
M132T |
probably benign |
Het |
| Mtcl1 |
G |
T |
17: 66,686,409 (GRCm39) |
H480Q |
probably benign |
Het |
| Myo18b |
T |
C |
5: 112,908,222 (GRCm39) |
N2017S |
probably benign |
Het |
| Neurl4 |
C |
T |
11: 69,797,959 (GRCm39) |
R740C |
probably damaging |
Het |
| Nlgn1 |
G |
T |
3: 26,385,939 (GRCm39) |
|
probably benign |
Het |
| Or14j7 |
T |
A |
17: 38,234,993 (GRCm39) |
C179S |
probably damaging |
Het |
| Or2ak6 |
T |
A |
11: 58,593,172 (GRCm39) |
L215Q |
probably damaging |
Het |
| Or4c11 |
A |
C |
2: 88,695,524 (GRCm39) |
M192L |
probably benign |
Het |
| Or6c214 |
A |
G |
10: 129,590,584 (GRCm39) |
V245A |
probably damaging |
Het |
| Paip1 |
T |
A |
13: 119,593,550 (GRCm39) |
M463K |
probably damaging |
Het |
| Parp3 |
T |
A |
9: 106,351,931 (GRCm39) |
Y147F |
probably damaging |
Het |
| Pgrmc2 |
C |
A |
3: 41,037,473 (GRCm39) |
|
probably benign |
Het |
| Phldb3 |
G |
A |
7: 24,316,832 (GRCm39) |
A278T |
probably benign |
Het |
| Plxnb1 |
T |
C |
9: 108,924,715 (GRCm39) |
|
probably null |
Het |
| Pom121 |
G |
A |
5: 135,412,740 (GRCm39) |
R481C |
unknown |
Het |
| Psg22 |
A |
T |
7: 18,453,635 (GRCm39) |
N149I |
probably damaging |
Het |
| Recql5 |
T |
C |
11: 115,788,017 (GRCm39) |
Y434C |
probably benign |
Het |
| Rexo1 |
A |
G |
10: 80,386,303 (GRCm39) |
S252P |
probably benign |
Het |
| Rtl1 |
A |
G |
12: 109,558,354 (GRCm39) |
S1162P |
probably benign |
Het |
| Samd9l |
G |
T |
6: 3,376,269 (GRCm39) |
Q331K |
probably benign |
Het |
| Sipa1l1 |
T |
C |
12: 82,419,208 (GRCm39) |
Y629H |
probably damaging |
Het |
| Slc12a2 |
A |
T |
18: 58,037,425 (GRCm39) |
I512L |
possibly damaging |
Het |
| Slc17a8 |
T |
C |
10: 89,413,777 (GRCm39) |
M484V |
probably benign |
Het |
| Slc25a24 |
A |
T |
3: 109,043,581 (GRCm39) |
E79D |
probably damaging |
Het |
| Snw1 |
T |
A |
12: 87,506,247 (GRCm39) |
I218F |
probably damaging |
Het |
| Sorcs1 |
T |
C |
19: 50,221,082 (GRCm39) |
D545G |
probably damaging |
Het |
| Sorcs2 |
A |
G |
5: 36,228,731 (GRCm39) |
S104P |
possibly damaging |
Het |
| Spry4 |
A |
G |
18: 38,723,142 (GRCm39) |
I207T |
possibly damaging |
Het |
| Tex101 |
A |
G |
7: 24,367,650 (GRCm39) |
V234A |
probably benign |
Het |
| Thra |
T |
A |
11: 98,653,899 (GRCm39) |
|
probably benign |
Het |
| Tmem161b |
T |
A |
13: 84,441,585 (GRCm39) |
L210Q |
probably damaging |
Het |
| Tmem50a |
A |
G |
4: 134,630,953 (GRCm39) |
|
probably benign |
Het |
| Tmem63b |
A |
G |
17: 45,989,887 (GRCm39) |
|
probably null |
Het |
| Tnrc6c |
A |
G |
11: 117,646,849 (GRCm39) |
D1450G |
possibly damaging |
Het |
| Trdmt1 |
A |
G |
2: 13,516,420 (GRCm39) |
L386P |
probably damaging |
Het |
| Trip12 |
T |
C |
1: 84,771,822 (GRCm39) |
S109G |
possibly damaging |
Het |
| Trit1 |
T |
C |
4: 122,948,033 (GRCm39) |
I451T |
probably benign |
Het |
| Ttc34 |
G |
A |
4: 154,950,139 (GRCm39) |
A1031T |
possibly damaging |
Het |
| Ttn |
T |
A |
2: 76,577,522 (GRCm39) |
D24457V |
probably damaging |
Het |
| Ttn |
A |
C |
2: 76,715,834 (GRCm39) |
|
probably benign |
Het |
| Tubgcp4 |
A |
T |
2: 121,009,147 (GRCm39) |
|
probably benign |
Het |
| Ubiad1 |
A |
G |
4: 148,528,468 (GRCm39) |
L147P |
probably damaging |
Het |
| Vps72 |
T |
A |
3: 95,029,851 (GRCm39) |
V290D |
probably benign |
Het |
| Zfp408 |
A |
T |
2: 91,480,093 (GRCm39) |
M1K |
probably null |
Het |
| Zfy2 |
C |
A |
Y: 2,121,496 (GRCm39) |
M132I |
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 |
|
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'- GCCACAAACTTCTCTTTGGG -3'
(R):5'- AGCTTATACTTAGTCCCTGGGC -3'
Sequencing Primer
(F):5'- GGGTCTATATAACACGTCTCTACC -3'
(R):5'- CACTGAGCAGGCTTTATGAACCTG -3'
|
| Posted On |
2014-07-14 |
Incidental Mutation