Mutagenetix > Incidental Mutation

Incidental Mutation 'R2979:Fabp3'

257035

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) question?

Stock #

R2979 (G1)

Quality Score

225

Status

Not 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: 97.1%
20x: 94.4%

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: 19 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Afm	A	G	5: 90,670,022 (GRCm39)	I48V	probably benign	Het
Arhgef1	A	G	7: 24,607,176 (GRCm39)	E16G	unknown	Het
Cps1	T	C	1: 67,243,863 (GRCm39)		probably null	Het
Dnah9	T	C	11: 66,008,414 (GRCm39)	K804E	possibly damaging	Het
Gm18025	G	T	12: 34,340,970 (GRCm39)	P41Q	probably damaging	Het
Kdm4c	A	T	4: 74,291,965 (GRCm39)	R861*	probably null	Het
Klhl2	C	T	8: 65,275,730 (GRCm39)	V58I	probably damaging	Het
Msl1	G	A	11: 98,691,050 (GRCm39)	G178E	possibly damaging	Het
Nacad	T	A	11: 6,551,424 (GRCm39)	Q589L	probably benign	Het
Pros1	A	G	16: 62,734,229 (GRCm39)	D345G	probably damaging	Het
Sh3tc2	A	G	18: 62,122,556 (GRCm39)	Y439C	probably damaging	Het
Smarcad1	T	A	6: 65,051,995 (GRCm39)	M376K	probably benign	Het
Srd5a1	T	C	13: 69,748,418 (GRCm39)	Q127R	probably damaging	Het
Synm	T	G	7: 67,386,008 (GRCm39)	R551S	probably damaging	Het
Trmt1	A	G	8: 85,423,511 (GRCm39)	Y301C	probably damaging	Het
Ttc23l	G	A	15: 10,537,652 (GRCm39)	S206L	probably benign	Het
Txnl1	T	C	18: 63,804,691 (GRCm39)	T268A	probably benign	Het
Zbbx	C	A	3: 74,985,793 (GRCm39)	E420*	probably null	Het
Zc3h7a	A	T	16: 10,976,837 (GRCm39)	V153E	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
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'- GGCCACAAACTTCTCTTTGG -3'
(R):5'- AGCTTATACTTAGTCCCTGGGC -3'

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

Posted On

2015-01-11