Mutagenetix > Incidental Mutation

Incidental Mutation 'R3612:Fabp3'

269251

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

040672-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R3612 (G1)

Quality Score

225

Status

Validated

Chromosome

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: 98.5%
10x: 97.0%
20x: 94.2%

Validation Efficiency

100% (31/31)

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: 29 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aacs	T	C	5: 125,580,251 (GRCm39)	V192A	probably damaging	Het
Acsm2	G	C	7: 119,190,553 (GRCm39)	V90L	probably damaging	Het
Adam5	T	C	8: 25,308,105 (GRCm39)		probably benign	Het
Ankrd12	A	T	17: 66,290,542 (GRCm39)	D1630E	probably benign	Het
Ccdc88c	A	T	12: 100,905,332 (GRCm39)	I1085N	probably damaging	Het
Cdc42bpb	A	G	12: 111,270,256 (GRCm39)		probably benign	Het
Cdh19	A	T	1: 110,821,026 (GRCm39)	C571S	probably damaging	Het
Cep290	T	A	10: 100,377,443 (GRCm39)	L1491*	probably null	Het
Cherp	G	A	8: 73,215,840 (GRCm39)		probably benign	Het
Diaph3	T	C	14: 87,274,893 (GRCm39)	S188G	probably null	Het
Ech1	C	T	7: 28,529,668 (GRCm39)	R34C	probably damaging	Het
Erc2	T	C	14: 27,499,134 (GRCm39)	S337P	possibly damaging	Het
Fah	A	G	7: 84,234,498 (GRCm39)	V412A	probably damaging	Het
Gatc	T	A	5: 115,473,545 (GRCm39)	E131D	probably benign	Het
Glrb	A	G	3: 80,769,337 (GRCm39)	V130A	possibly damaging	Het
Gm4782	T	A	6: 50,585,610 (GRCm39)		probably null	Het
Klhl1	C	T	14: 96,619,206 (GRCm39)		probably null	Het
Mslnl	G	A	17: 25,961,908 (GRCm39)	V128M	probably damaging	Het
Myo15a	G	C	11: 60,368,505 (GRCm39)	D422H	probably damaging	Het
Ncapd3	T	A	9: 26,961,653 (GRCm39)	H360Q	probably damaging	Het
Or1e22	T	C	11: 73,376,766 (GRCm39)	R295G	probably benign	Het
Ppargc1b	T	C	18: 61,443,627 (GRCm39)	N528S	probably benign	Het
Rprd2	G	A	3: 95,671,464 (GRCm39)	P1313L	probably damaging	Het
Slc12a7	C	A	13: 73,958,042 (GRCm39)	D955E	probably benign	Het
Slc9a2	G	A	1: 40,758,218 (GRCm39)		probably null	Het
Tex24	T	A	8: 27,835,201 (GRCm39)	V243D	probably benign	Het
Vmn2r17	A	G	5: 109,577,463 (GRCm39)	T505A	probably benign	Het
Vps37a	T	C	8: 40,997,977 (GRCm39)		probably benign	Het
Zmynd19	A	G	2: 24,841,492 (GRCm39)	Y20C	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
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
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'- GCCTAGGCCACAAACTTCTC -3'
(R):5'- ATACTTAGTCCCTGGGCCATC -3'

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

Posted On

2015-02-19