Mutagenetix > Incidental Mutation

Incidental Mutation 'R3430:Fabp3'

268056

Institutional Source

Beutler Lab

Gene Symbol

Fabp3

Ensembl Gene

ENSMUSG00000028773

Gene Name

fatty acid binding protein 3, muscle and heart

Synonyms

Fabph4, Mdgi, H-FABP, Fabp3, Fabph1, Fabph-4, Fabph-1

MMRRC Submission

040648-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R3430 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

130308595-130315463 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 130312387 bp (GRCm38)

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: 99.3%
3x: 98.6%
10x: 97.4%
20x: 95.5%

Validation Efficiency

100% (67/67)

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: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700021F07Rik	T	C	2: 173,528,273	Y114H	possibly damaging	Het
Afap1l2	C	A	19: 56,915,806	R683L	probably damaging	Het
Ahnak	A	G	19: 9,006,958	I1869V	probably benign	Het
Aoc1	A	T	6: 48,906,076	E295D	probably benign	Het
Arhgef19	T	C	4: 141,256,800	L777P	probably benign	Het
Atf7ip	A	G	6: 136,575,324		probably benign	Het
Bhmt	T	C	13: 93,627,347	E62G	probably damaging	Het
Bpifa6	A	G	2: 153,989,251	I246V	probably benign	Het
Btbd10	T	A	7: 113,351,809	R25*	probably null	Het
Ccdc88a	T	A	11: 29,448,033	D255E	probably damaging	Het
Chd7	T	C	4: 8,844,517	V1542A	probably damaging	Het
Col12a1	T	A	9: 79,680,311	T1183S	probably benign	Het
Col20a1	T	A	2: 181,013,285	L1145*	probably null	Het
Dchs1	A	G	7: 105,756,504	V2391A	possibly damaging	Het
Dgat2	A	G	7: 99,157,093	V299A	probably benign	Het
Dmxl2	T	A	9: 54,477,461	N94I	possibly damaging	Het
Dnah6	G	A	6: 73,121,814	S2034L	possibly damaging	Het
Filip1	A	T	9: 79,853,670	M194K	probably damaging	Het
Fut1	T	C	7: 45,619,374	F196L	probably damaging	Het
Gm10323	A	C	13: 66,854,824	W17G	probably damaging	Het
Grin3a	C	A	4: 49,792,534	V400L	probably benign	Het
Htr3a	T	C	9: 48,907,388	N82S	probably benign	Het
Il23r	A	C	6: 67,452,474	S295A	probably benign	Het
Klk14	G	A	7: 43,692,077	C51Y	probably damaging	Het
Lama5	T	C	2: 180,196,317	K869E	probably benign	Het
Lce1d	A	T	3: 92,685,730		probably benign	Het
Lkaaear1	T	C	2: 181,697,531	D42G	probably benign	Het
Mapk8ip2	A	G	15: 89,457,282	E232G	possibly damaging	Het
Marf1	A	G	16: 14,140,177		probably benign	Het
Mpeg1	A	T	19: 12,463,128	H650L	probably benign	Het
Nfib	T	C	4: 82,498,295	I168V	possibly damaging	Het
Olfr1209	C	T	2: 88,909,466	R309Q	probably benign	Het
Olfr1507	A	G	14: 52,490,425	F180L	possibly damaging	Het
Olfr1535	A	T	13: 21,555,805	C72*	probably null	Het
Olfr389	A	T	11: 73,776,539	S263T	probably damaging	Het
Olfr918	A	T	9: 38,673,139	F102I	probably damaging	Het
Otx2	T	A	14: 48,658,797	K260M	probably damaging	Het
P2ry12	C	T	3: 59,218,027	D76N	probably damaging	Het
Parp3	A	T	9: 106,474,723	I150K	probably damaging	Het
Prex2	T	G	1: 11,149,854	I683S	possibly damaging	Het
Prss34	A	T	17: 25,299,104	K86I	probably benign	Het
Ptpn20	T	A	14: 33,614,528	V108D	possibly damaging	Het
Rlf	A	G	4: 121,150,532	L417P	probably benign	Het
Rsad2	T	C	12: 26,456,419	M1V	probably null	Het
S1pr5	A	G	9: 21,245,082	V16A	probably benign	Het
Scn7a	AT	ATT	2: 66,700,895		probably null	Het
Serpinb3b	A	T	1: 107,154,695	S280T	probably benign	Het
Sh3d21	A	G	4: 126,162,832	S66P	probably benign	Het
Sh3yl1	T	C	12: 30,959,842	S253P	probably benign	Het
Smarca2	A	G	19: 26,691,349	E916G	probably damaging	Het
Sptbn1	A	G	11: 30,219,686	I14T	possibly damaging	Het
Supt16	A	T	14: 52,175,359	M559K	probably benign	Het
Tas1r2	A	G	4: 139,669,575	T742A	probably damaging	Het
Tbc1d5	T	C	17: 50,800,128	K467E	probably damaging	Het
Tet3	A	G	6: 83,403,419	V589A	probably damaging	Het
Tmem131	A	G	1: 36,808,821		probably benign	Het
Tmtc3	A	G	10: 100,447,575	F706S	probably benign	Het
Tsku	T	C	7: 98,352,539	N195S	probably damaging	Het
Vmn2r85	T	A	10: 130,418,889	H642L	probably damaging	Het
Vmn2r-ps159	G	T	4: 156,334,397		noncoding transcript	Het
Zfc3h1	A	G	10: 115,410,523		probably benign	Het

Other mutations in Fabp3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
cardio	UTSW	4	130312387	missense	probably benign	0.21
R1111:Fabp3	UTSW	4	130312387	missense	probably benign	0.21
R1112:Fabp3	UTSW	4	130312387	missense	probably benign	0.21
R1114:Fabp3	UTSW	4	130312387	missense	probably benign	0.21
R1116:Fabp3	UTSW	4	130312387	missense	probably benign	0.21
R1144:Fabp3	UTSW	4	130312387	missense	probably benign	0.21
R1146:Fabp3	UTSW	4	130312387	missense	probably benign	0.21
R1146:Fabp3	UTSW	4	130312387	missense	probably benign	0.21
R1147:Fabp3	UTSW	4	130312387	missense	probably benign	0.21
R1147:Fabp3	UTSW	4	130312387	missense	probably benign	0.21
R1460:Fabp3	UTSW	4	130312387	missense	probably benign	0.21
R1505:Fabp3	UTSW	4	130312387	missense	probably benign	0.21
R1506:Fabp3	UTSW	4	130312387	missense	probably benign	0.21
R1508:Fabp3	UTSW	4	130312387	missense	probably benign	0.21
R1509:Fabp3	UTSW	4	130312387	missense	probably benign	0.21
R1582:Fabp3	UTSW	4	130312387	missense	probably benign	0.21
R1601:Fabp3	UTSW	4	130308848	missense	probably benign	0.24
R1612:Fabp3	UTSW	4	130312387	missense	probably benign	0.21
R1641:Fabp3	UTSW	4	130312387	missense	probably benign	0.21
R1664:Fabp3	UTSW	4	130312387	missense	probably benign	0.21
R1670:Fabp3	UTSW	4	130312387	missense	probably benign	0.21
R1686:Fabp3	UTSW	4	130312387	missense	probably benign	0.21
R1690:Fabp3	UTSW	4	130312387	missense	probably benign	0.21
R1709:Fabp3	UTSW	4	130312387	missense	probably benign	0.21
R1854:Fabp3	UTSW	4	130312387	missense	probably benign	0.21
R1855:Fabp3	UTSW	4	130312387	missense	probably benign	0.21
R1935:Fabp3	UTSW	4	130312387	missense	probably benign	0.21
R2107:Fabp3	UTSW	4	130312387	missense	probably benign	0.21
R2208:Fabp3	UTSW	4	130312387	missense	probably benign	0.21
R2211:Fabp3	UTSW	4	130312387	missense	probably benign	0.21
R2392:Fabp3	UTSW	4	130312387	missense	probably benign	0.21
R2393:Fabp3	UTSW	4	130312387	missense	probably benign	0.21
R2829:Fabp3	UTSW	4	130312387	missense	probably benign	0.21
R2830:Fabp3	UTSW	4	130312387	missense	probably benign	0.21
R2831:Fabp3	UTSW	4	130312387	missense	probably benign	0.21
R2901:Fabp3	UTSW	4	130312387	missense	probably benign	0.21
R2964:Fabp3	UTSW	4	130312387	missense	probably benign	0.21
R2975:Fabp3	UTSW	4	130312387	missense	probably benign	0.21
R2979:Fabp3	UTSW	4	130312387	missense	probably benign	0.21
R2980:Fabp3	UTSW	4	130312387	missense	probably benign	0.21
R2981:Fabp3	UTSW	4	130312387	missense	probably benign	0.21
R2982:Fabp3	UTSW	4	130312387	missense	probably benign	0.21
R2983:Fabp3	UTSW	4	130312387	missense	probably benign	0.21
R3612:Fabp3	UTSW	4	130312387	missense	probably benign	0.21
R3613:Fabp3	UTSW	4	130312387	missense	probably benign	0.21
R3614:Fabp3	UTSW	4	130312387	missense	probably benign	0.21
R3755:Fabp3	UTSW	4	130312387	missense	probably benign	0.21
R3756:Fabp3	UTSW	4	130312387	missense	probably benign	0.21
R3825:Fabp3	UTSW	4	130312452	splice site	probably null
R3842:Fabp3	UTSW	4	130312387	missense	probably benign	0.21
R4012:Fabp3	UTSW	4	130312387	missense	probably benign	0.21
R4280:Fabp3	UTSW	4	130312452	splice site	probably null
R4282:Fabp3	UTSW	4	130312452	splice site	probably null
R4405:Fabp3	UTSW	4	130312387	missense	probably benign	0.21
R4406:Fabp3	UTSW	4	130312387	missense	probably benign	0.21
R4466:Fabp3	UTSW	4	130312387	missense	probably benign	0.21
R4503:Fabp3	UTSW	4	130312452	splice site	probably null
R4547:Fabp3	UTSW	4	130312452	splice site	probably null
R4548:Fabp3	UTSW	4	130312452	splice site	probably null
R4671:Fabp3	UTSW	4	130312387	missense	probably benign	0.21
R4681:Fabp3	UTSW	4	130312387	missense	probably benign	0.21
R4710:Fabp3	UTSW	4	130312387	missense	probably benign	0.21
R4743:Fabp3	UTSW	4	130312387	missense	probably benign	0.21
R4850:Fabp3	UTSW	4	130312387	missense	probably benign	0.21
R4989:Fabp3	UTSW	4	130312387	missense	probably benign	0.21
R5015:Fabp3	UTSW	4	130312387	missense	probably benign	0.21
R5133:Fabp3	UTSW	4	130312387	missense	probably benign	0.21
R5134:Fabp3	UTSW	4	130312387	missense	probably benign	0.21
R5549:Fabp3	UTSW	4	130315225	makesense	probably null
R5884:Fabp3	UTSW	4	130312338	missense	probably benign	0.01
R7170:Fabp3	UTSW	4	130313970	missense	probably benign	0.06
R7967:Fabp3	UTSW	4	130313988	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GGCCACAAACTTCTCTTTGGG -3'
(R):5'- GCTTATACTTAGTCCCTGGGCC -3'

Sequencing Primer
(F):5'- GGGTCTATATAACACGTCTCTACC -3'
(R):5'- CACTGAGCAGGCTTTATGAACCTG -3'

Posted On

2015-02-18