Mutagenetix > Incidental Mutation

Incidental Mutation 'R1855:Fabp3'

206014

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

039879-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1855 (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: 97.4%
3x: 96.9%
10x: 95.3%
20x: 92.4%

Validation Efficiency

97% (72/74)

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: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A830018L16Rik	T	A	1: 11,747,971	L285Q	probably damaging	Het
Acaca	T	C	11: 84,371,554	L1994P	probably damaging	Het
Adamts9	A	G	6: 92,901,369		probably benign	Het
Aff3	T	C	1: 38,210,304	E574G	probably benign	Het
Ankrd1	T	C	19: 36,119,235	K64R	probably damaging	Het
Arhgap23	T	C	11: 97,448,697	I163T	probably damaging	Het
Ascc3	A	T	10: 50,617,922	Q151L	probably benign	Het
Atad2	G	A	15: 58,097,289	P971L	possibly damaging	Het
C1s1	A	C	6: 124,534,356		probably null	Het
Ccdc150	T	C	1: 54,367,910		probably benign	Het
Cdhr3	A	T	12: 33,060,352	I311N	probably damaging	Het
Chad	T	A	11: 94,565,477	L127H	probably damaging	Het
Clasp1	G	A	1: 118,508,894	A303T	probably damaging	Het
Clptm1	A	G	7: 19,638,209	V234A	probably benign	Het
Cnih3	C	A	1: 181,454,621	S140*	probably null	Het
Col24a1	G	A	3: 145,459,140	G1033D	probably damaging	Het
Csnk1a1	T	A	18: 61,575,427		probably null	Het
Cttnbp2	T	A	6: 18,378,413	I1475L	probably benign	Het
Dnah5	T	C	15: 28,411,669	V3728A	possibly damaging	Het
Dock9	C	A	14: 121,640,159	V391F	probably damaging	Het
Ehmt2	A	T	17: 34,910,776	I949F	probably damaging	Het
Eif4g1	C	A	16: 20,687,161	T1025K	possibly damaging	Het
Enpp2	C	T	15: 54,845,823	E803K	probably damaging	Het
Esrrg	A	T	1: 188,211,098	M423L	probably damaging	Het
Etnppl	A	T	3: 130,620,722	I89F	probably benign	Het
Fam122b	T	A	X: 53,254,056	Q201H	probably benign	Het
Fbln7	A	G	2: 128,893,835	T248A	possibly damaging	Het
Galnt9	C	T	5: 110,615,524	T465M	probably damaging	Het
Grcc10	A	G	6: 124,740,578	V57A	probably benign	Het
Herc1	T	A	9: 66,391,426	M614K	possibly damaging	Het
Itch	C	T	2: 155,172,454		probably benign	Het
Kdm6b	C	A	11: 69,407,286	A167S	probably damaging	Het
Kidins220	C	T	12: 25,056,591	R1348C	probably damaging	Het
Kif17	T	C	4: 138,288,271	L577P	probably benign	Het
Krt25	A	T	11: 99,318,315	L258Q	probably damaging	Het
March10	T	C	11: 105,390,392	T356A	probably benign	Het
Mical2	G	A	7: 112,345,282	A940T	probably benign	Het
Mrpl4	A	G	9: 21,003,371	E81G	possibly damaging	Het
Mtcl1	A	G	17: 66,379,514	V447A	probably benign	Het
Mtor	C	A	4: 148,553,089	N2502K	probably benign	Het
Notch4	G	A	17: 34,580,962	D966N	probably benign	Het
Oip5	C	A	2: 119,611,790	K214N	probably benign	Het
Olfr160	A	T	9: 37,711,970	F103Y	possibly damaging	Het
Pak7	A	T	2: 136,087,509	S585T	probably benign	Het
Pard3	T	A	8: 127,447,812		probably null	Het
Pcnx2	A	T	8: 125,807,996		probably benign	Het
Pcsk5	T	C	19: 17,515,192	Y939C	possibly damaging	Het
Pde1a	A	G	2: 79,898,064		probably null	Het
Pde9a	C	T	17: 31,455,120	P60S	probably damaging	Het
Pikfyve	C	A	1: 65,258,798	T1562K	probably benign	Het
Plekhg6	A	T	6: 125,375,839	M115K	probably damaging	Het
Pogz	C	T	3: 94,878,849	T863I	probably benign	Het
Ppp1r3a	A	T	6: 14,754,994	W85R	probably damaging	Het
Rnf123	C	A	9: 108,061,791	R826L	probably damaging	Het
Slc1a6	T	A	10: 78,812,924	V493E	probably damaging	Het
Slc22a2	A	G	17: 12,586,812	D150G	probably damaging	Het
Snap47	C	T	11: 59,428,333		probably benign	Het
Spata22	A	G	11: 73,340,559	D213G	probably benign	Het
St6galnac2	T	A	11: 116,690,315	R60S	probably benign	Het
Stk32c	A	G	7: 139,121,447	F263S	probably damaging	Het
Supt6	T	C	11: 78,232,540	I104V	possibly damaging	Het
Tex2	T	C	11: 106,546,876	E158G	possibly damaging	Het
Tiam2	C	T	17: 3,415,135	R380C	probably damaging	Het
Trim25	C	T	11: 89,015,581	T410I	probably benign	Het
Usp18	T	A	6: 121,262,117	C212S	probably benign	Het
Vmn1r2	A	G	4: 3,172,588	Y169C	probably damaging	Het
Wdr33	A	T	18: 31,906,856		probably benign	Het
Xpr1	A	G	1: 155,283,256	Y597H	probably benign	Het
Yy1	CGGG	CGGGGGGGGG	12: 108,793,990		probably benign	Het
Zfp54	T	A	17: 21,434,142	Y299*	probably null	Het
Zfp566	T	G	7: 30,078,502	S85R	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
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'- GCCACAAACTTCTCTTTGGGTC -3'
(R):5'- GCTTATACTTAGTCCCTGGGCC -3'

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

Posted On

2014-06-23