Mutagenetix > Incidental Mutations

Incidental Mutation 'R1601:Fabp3'

176138

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

039638-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1601 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

130308595-130315463 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 130308848 bp

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 24 (L24P)

Ref Sequence

ENSEMBL: ENSMUSP00000070709 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000070532] [ENSMUST00000097865]

Predicted Effect

probably benign
Transcript: ENSMUST00000070532
AA Change: L24P

PolyPhen 2 Score 0.239 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000070709
Gene: ENSMUSG00000028773
AA Change: L24P

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

Coding Region Coverage

1x: 98.9%
3x: 98.0%
10x: 95.1%
20x: 88.6%

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: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110032F04Rik	G	A	3: 68,870,213	S169N	probably benign	Het
4933416C03Rik	T	C	10: 116,113,616	S2G	probably damaging	Het
Adgra2	T	C	8: 27,110,018		probably null	Het
Adgrb2	T	C	4: 129,992,837	S257P	probably benign	Het
Adgre1	A	G	17: 57,441,353	K518E	probably benign	Het
Anxa7	A	T	14: 20,464,615	Y64*	probably null	Het
Arhgef7	A	G	8: 11,782,638		probably null	Het
Cdc42bpa	T	A	1: 180,065,001	Y243*	probably null	Het
Cdk14	C	T	5: 5,135,378	V176M	probably damaging	Het
Cnbd2	A	G	2: 156,333,631	E54G	probably damaging	Het
Crx	T	C	7: 15,867,811		probably null	Het
Cyp24a1	A	G	2: 170,485,691	F511L	possibly damaging	Het
Ddx11	A	G	17: 66,150,385	M810V	probably damaging	Het
Dock10	T	C	1: 80,549,802	T1077A	probably benign	Het
Dopey1	G	A	9: 86,536,250	D2011N	probably damaging	Het
Ehhadh	T	A	16: 21,766,408	H241L	probably benign	Het
Enah	A	T	1: 181,919,620	L523*	probably null	Het
Fat2	A	G	11: 55,282,010	S2626P	probably benign	Het
Fbxo4	A	G	15: 3,968,965	M337T	possibly damaging	Het
Gas6	G	T	8: 13,465,786	T662N	probably damaging	Het
Gm10608	CAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA	CAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA	9: 119,160,716		probably null	Het
Hrh4	G	A	18: 13,015,898	V106I	possibly damaging	Het
Ido2	G	T	8: 24,576,189	H20Q	possibly damaging	Het
Ikbkap	T	A	4: 56,774,756	K740*	probably null	Het
Itga10	G	T	3: 96,653,658	R613L	possibly damaging	Het
Itsn2	T	C	12: 4,658,452	S836P	probably benign	Het
Kcng3	A	T	17: 83,588,339	C233S	probably damaging	Het
Kdm3b	A	G	18: 34,808,731	Q625R	probably damaging	Het
Kidins220	A	G	12: 25,005,088	S553G	probably benign	Het
Krt82	A	T	15: 101,545,153	I266N	probably damaging	Het
Lama5	A	T	2: 180,197,745	L736Q	probably damaging	Het
Lnx2	A	G	5: 147,033,519	C138R	probably damaging	Het
Mcm5	T	C	8: 75,119,354	C397R	possibly damaging	Het
Me1	A	C	9: 86,678,012	Y52D	probably damaging	Het
Muc4	C	A	16: 32,755,501		probably benign	Het
Myo18b	G	T	5: 112,871,498	Q638K	possibly damaging	Het
Ncapd2	A	G	6: 125,185,772	L170P	probably damaging	Het
Neb	A	T	2: 52,287,252	L1359*	probably null	Het
Nomo1	C	A	7: 46,046,955	S299Y	probably damaging	Het
Olfr1359	C	A	13: 21,703,226	T75K	probably damaging	Het
Olfr1509	A	C	14: 52,450,442	T10P	probably benign	Het
Olfr322	A	T	11: 58,666,077	R173W	probably damaging	Het
Olfr57	A	T	10: 79,035,504	Y236F	possibly damaging	Het
Onecut1	A	T	9: 74,862,691	H132L	probably benign	Het
Paqr3	A	G	5: 97,111,389	Y19H	probably benign	Het
Prdx5	T	C	19: 6,907,558	H140R	possibly damaging	Het
Prox1	T	C	1: 190,161,006	D414G	probably damaging	Het
Ptprh	T	G	7: 4,552,638	E774A	probably damaging	Het
Rnpepl1	A	T	1: 92,917,222	D412V	possibly damaging	Het
Sars2	C	T	7: 28,748,971	T259M	probably benign	Het
Sbf2	T	C	7: 110,340,076		probably null	Het
Sbno2	C	T	10: 80,060,492	R898H	probably damaging	Het
Smox	C	A	2: 131,520,174	T172N	probably damaging	Het
Tdrd9	C	T	12: 112,023,253	R341*	probably null	Het
Thrap3	C	G	4: 126,180,101	G284A	probably damaging	Het
Tmtc4	A	G	14: 122,944,826	V271A	probably benign	Het
Trank1	A	G	9: 111,373,477	T1637A	probably damaging	Het
Tspan5	T	A	3: 138,896,835	I166N	probably damaging	Het
Vps13b	T	C	15: 35,642,436	V1398A	probably benign	Het
Xbp1	C	T	11: 5,521,975	R34W	probably damaging	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
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
R3430: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'- GCTCAAGGGCGAGTTTCCTTTCAG -3'
(R):5'- ACTGCTTCCTAGAAAGCCTCCCATC -3'

Sequencing Primer
(F):5'- TGGGTTAGATGGCACCAAC -3'
(R):5'- tggggtggggtggagtg -3'

Posted On

2014-04-24