Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02047:Fabp12'

184983

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Fabp12

Ensembl Gene

ENSMUSG00000027530

Gene Name

fatty acid binding protein 12

Synonyms

1700008G05Rik

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.053) question?

Stock #

IGL02047

Quality Score

Status

Chromosome

Chromosomal Location

10309269-10366243 bp(-) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

T to C at 10312778 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000131101 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000029043] [ENSMUST00000117917] [ENSMUST00000119761] [ENSMUST00000172126]

AlphaFold

Q9DAK4

Predicted Effect

probably benign
Transcript: ENSMUST00000029043

SMART Domains

Protein: ENSMUSP00000029043
Gene: ENSMUSG00000027530

Domain	Start	End	E-Value	Type
Pfam:Lipocalin	6	132	1.4e-25	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000117917

SMART Domains

Protein: ENSMUSP00000112464
Gene: ENSMUSG00000027530

Domain	Start	End	E-Value	Type
Pfam:Lipocalin	6	132	1.4e-25	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000119761

SMART Domains

Protein: ENSMUSP00000112958
Gene: ENSMUSG00000027530

Domain	Start	End	E-Value	Type
Pfam:Lipocalin	6	132	1.4e-25	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000172126

SMART Domains

Protein: ENSMUSP00000131101
Gene: ENSMUSG00000027530

Domain	Start	End	E-Value	Type
Pfam:Lipocalin	6	132	1.4e-25	PFAM

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 33 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A730049H05Rik	G	T	6: 92,808,909 (GRCm39)		probably benign	Het
Ank3	A	G	10: 69,728,324 (GRCm39)	N681S	possibly damaging	Het
Arpp19	T	G	9: 74,964,058 (GRCm39)	S137A	probably damaging	Het
Bmp2	T	C	2: 133,402,896 (GRCm39)	L149P	probably damaging	Het
Bpifb1	T	C	2: 154,044,536 (GRCm39)	M1T	probably null	Het
Btbd7	T	C	12: 102,760,038 (GRCm39)	S637G	probably benign	Het
Cyp51	T	A	5: 4,149,244 (GRCm39)	H211L	possibly damaging	Het
Cyth1	C	A	11: 118,059,958 (GRCm39)	Q333H	probably damaging	Het
Dennd5a	G	A	7: 109,533,991 (GRCm39)	T67M	possibly damaging	Het
Dse	A	T	10: 34,038,841 (GRCm39)	Y51*	probably null	Het
Dynlt3	A	T	X: 9,522,665 (GRCm39)	Y76*	probably null	Het
Galr1	A	T	18: 82,424,118 (GRCm39)	L53Q	probably damaging	Het
Igkv4-70	A	T	6: 69,244,911 (GRCm39)	D103E	probably damaging	Het
Il2	T	C	3: 37,180,000 (GRCm39)	N19S	probably benign	Het
Jhy	T	C	9: 40,828,476 (GRCm39)	I477V	probably benign	Het
Kcnk4	A	G	19: 6,903,626 (GRCm39)	S308P	probably benign	Het
Lipo3	A	T	19: 33,534,562 (GRCm39)	I299K	probably benign	Het
Mark3	T	A	12: 111,584,797 (GRCm39)	I131N	probably damaging	Het
Msr1	A	G	8: 40,077,001 (GRCm39)	V137A	probably benign	Het
Nf1	T	A	11: 79,316,361 (GRCm39)	V482E	probably benign	Het
Pcsk1	T	C	13: 75,246,108 (GRCm39)	V162A	probably benign	Het
Phf8-ps	C	T	17: 33,286,275 (GRCm39)	V176M	probably damaging	Het
Plekhb1	A	G	7: 100,304,506 (GRCm39)	V47A	probably damaging	Het
R3hcc1l	G	A	19: 42,552,258 (GRCm39)	M418I	probably benign	Het
Slc24a4	T	C	12: 102,220,882 (GRCm39)	F438L	probably damaging	Het
Slc38a5	G	T	X: 8,139,879 (GRCm39)	V127L	possibly damaging	Het
Szt2	A	G	4: 118,233,834 (GRCm39)		probably benign	Het
Tdh	A	T	14: 63,734,407 (GRCm39)	H80Q	probably benign	Het
Tshz3	A	C	7: 36,469,893 (GRCm39)	K627N	probably damaging	Het
Usp28	C	T	9: 48,946,941 (GRCm39)	P791S	probably damaging	Het
Wdr81	A	G	11: 75,336,332 (GRCm39)	Y1686H	probably damaging	Het
Xpot	G	T	10: 121,437,267 (GRCm39)		probably benign	Het
Zfand4	G	A	6: 116,291,889 (GRCm39)	G627R	probably damaging	Het

Other mutations in Fabp12

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00551:Fabp12	APN	3	10,311,115 (GRCm39)	splice site	probably benign
IGL00957:Fabp12	APN	3	10,315,273 (GRCm39)	critical splice acceptor site	probably null
IGL01774:Fabp12	APN	3	10,312,754 (GRCm39)	missense	probably benign	0.00
IGL01822:Fabp12	APN	3	10,311,082 (GRCm39)	nonsense	probably null
IGL02164:Fabp12	APN	3	10,311,075 (GRCm39)	missense	probably damaging	0.99
IGL03108:Fabp12	APN	3	10,315,114 (GRCm39)	missense	probably benign	0.12
R0501:Fabp12	UTSW	3	10,315,203 (GRCm39)	missense	probably benign	0.00
R0647:Fabp12	UTSW	3	10,311,096 (GRCm39)	missense	possibly damaging	0.55
R1134:Fabp12	UTSW	3	10,312,731 (GRCm39)	missense	probably benign	0.17
R2020:Fabp12	UTSW	3	10,315,209 (GRCm39)	missense	probably benign	0.00
R5269:Fabp12	UTSW	3	10,315,167 (GRCm39)	missense	probably benign	0.12
R7434:Fabp12	UTSW	3	10,312,738 (GRCm39)	missense	probably benign	0.10
R9022:Fabp12	UTSW	3	10,317,333 (GRCm39)	missense	probably damaging	1.00

Posted On

2014-05-07