Mutagenetix > Incidental Mutation

Incidental Mutation 'R2975:Fabp3'

255340

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 #

R2975 (G1)

Quality Score

215

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: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.1%

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: 20 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abi1	T	C	2: 22,847,099 (GRCm39)	N251D	probably damaging	Het
Cdca3	A	T	6: 124,807,616 (GRCm39)		probably null	Het
Fut8	T	C	12: 77,411,787 (GRCm39)	V83A	probably benign	Het
Gnb1l	T	C	16: 18,383,016 (GRCm39)	S352P	probably damaging	Het
Hmgxb3	A	T	18: 61,296,038 (GRCm39)	Y323*	probably null	Het
Katna1	A	T	10: 7,619,473 (GRCm39)	K160N	probably benign	Het
Kif7	C	A	7: 79,360,008 (GRCm39)	A410S	probably damaging	Het
Mrpl43	T	C	19: 44,994,498 (GRCm39)		probably null	Het
Muc6	T	A	7: 141,216,951 (GRCm39)	E2574V	possibly damaging	Het
Naip6	A	G	13: 100,424,695 (GRCm39)	V1199A	probably damaging	Het
Ntn4	A	G	10: 93,480,753 (GRCm39)	Y122C	probably damaging	Het
Pon3	A	G	6: 5,232,345 (GRCm39)	I225T	probably damaging	Het
Rrp1b	T	A	17: 32,277,547 (GRCm39)	V609E	probably damaging	Het
Scube1	T	C	15: 83,543,299 (GRCm39)	T180A	probably damaging	Het
Tas2r136	C	A	6: 132,754,972 (GRCm39)	V52L	probably damaging	Het
Tas2r138	A	G	6: 40,590,198 (GRCm39)	I16T	probably benign	Het
Traf3ip2	A	C	10: 39,502,536 (GRCm39)	Q228P	probably benign	Het
Vmn2r54	A	G	7: 12,369,919 (GRCm39)	M48T	possibly damaging	Het
Washc5	T	C	15: 59,217,207 (GRCm39)	N787D	probably damaging	Het
Zbed6	T	C	1: 133,585,975 (GRCm39)	Y454C	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
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'- GCCACAAACTTCTCTTTGGGTC -3'
(R):5'- GCTTATACTTAGTCCCTGGGCC -3'

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

Posted On

2014-12-29