Mutagenetix > Incidental Mutation

Incidental Mutation 'R7814:Mcat'

601401

Institutional Source

Beutler Lab

Gene Symbol

Mcat

Ensembl Gene

ENSMUSG00000048755

Gene Name

malonyl CoA:ACP acyltransferase (mitochondrial)

Synonyms

MMRRC Submission

045869-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.493) question?

Stock #

R7814 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

83430998-83439936 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 83432110 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Histidine at position 253 (Y253H)

Ref Sequence

ENSEMBL: ENSMUSP00000051569 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000016902] [ENSMUST00000061882] [ENSMUST00000229165] [ENSMUST00000229724] [ENSMUST00000229964] [ENSMUST00000230912]

AlphaFold

Q8R3F5

Predicted Effect

probably benign
Transcript: ENSMUST00000016902

SMART Domains

Protein: ENSMUSP00000016902
Gene: ENSMUSG00000016758

Domain	Start	End	E-Value	Type
Pfam:bcl-2I13	1	149	1.5e-72	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000061882
AA Change: Y253H

PolyPhen 2 Score 0.968 (Sensitivity: 0.77; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000051569
Gene: ENSMUSG00000048755
AA Change: Y253H

Domain	Start	End	E-Value	Type
low complexity region	2	24	N/A	INTRINSIC
Pfam:Acyl_transf_1	62	342	5.8e-25	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000229165

Predicted Effect

probably damaging
Transcript: ENSMUST00000229724
AA Change: Y90H

PolyPhen 2 Score 0.968 (Sensitivity: 0.77; Specificity: 0.95)

Predicted Effect

probably benign
Transcript: ENSMUST00000229964

Predicted Effect

probably benign
Transcript: ENSMUST00000230851

Predicted Effect

probably benign
Transcript: ENSMUST00000230912

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.2%

Validation Efficiency

100% (90/90)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is found exclusively in the mitochondrion, where it catalyzes the transfer of a malonyl group from malonyl-CoA to the mitochondrial acyl carrier protein. The encoded protein may be part of a fatty acid synthase complex that is more like the type II prokaryotic and plastid complexes rather than the type I human cytosolic complex. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Mar 2012]
PHENOTYPE: Mice homozygous for a conditional allele activated ubiquitously consume more food, fail to gain weight, are less physically active, and suffer from loss of white adipose tissue, reduced muscle strength, kyphosis, alopecia, hypothermia and shortened lifespan. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 93 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110065P20Rik	C	T	4: 124,744,395 (GRCm39)	G20R	not run	Het
Adamts13	A	T	2: 26,886,561 (GRCm39)	M927L	probably benign	Het
Akap6	T	A	12: 53,187,744 (GRCm39)	N1719K	probably benign	Het
Ank3	G	A	10: 69,822,734 (GRCm39)	V468M		Het
Aox1	A	G	1: 58,124,626 (GRCm39)	T956A	probably benign	Het
Ap4m1	T	C	5: 138,173,079 (GRCm39)	V140A	probably benign	Het
Apc	A	G	18: 34,405,592 (GRCm39)	T173A	probably damaging	Het
Bclaf1	A	G	10: 20,210,365 (GRCm39)	T839A	possibly damaging	Het
Btn2a2	T	A	13: 23,666,976 (GRCm39)	I210F	possibly damaging	Het
Cadps	A	G	14: 12,376,706 (GRCm38)	W1269R	probably damaging	Het
Capn2	G	C	1: 182,319,711 (GRCm39)	P159R	probably damaging	Het
Cblif	C	A	19: 11,727,551 (GRCm39)	P125Q	probably benign	Het
Ccdc134	T	G	15: 82,015,724 (GRCm39)	V68G	probably damaging	Het
Cdh26	A	G	2: 178,111,828 (GRCm39)	T463A	probably damaging	Het
Cfap206	C	T	4: 34,716,347 (GRCm39)	V373I	probably benign	Het
Clpx	T	C	9: 65,231,583 (GRCm39)		probably null	Het
Ctnnd2	A	T	15: 31,020,874 (GRCm39)	Y1145F	probably benign	Het
Ctr9	T	A	7: 110,633,134 (GRCm39)	D127E	probably benign	Het
Cyp2f2	G	A	7: 26,828,678 (GRCm39)	V183I	probably benign	Het
Cyp7b1	G	A	3: 18,151,466 (GRCm39)	S249L	probably benign	Het
D630023F18Rik	T	A	1: 65,155,850 (GRCm39)	D125V	possibly damaging	Het
Dbh	A	T	2: 27,064,860 (GRCm39)	Y357F	probably damaging	Het
Dbp	T	A	7: 45,356,414 (GRCm39)	L175Q	probably benign	Het
Dmwd	A	T	7: 18,814,768 (GRCm39)	T473S	probably benign	Het
Dnah9	T	A	11: 65,896,486 (GRCm39)	Q2446L	probably damaging	Het
Dnmbp	T	C	19: 43,842,615 (GRCm39)	K498R	probably benign	Het
Dop1b	T	A	16: 93,596,859 (GRCm39)	I1924N	probably damaging	Het
Dsg1a	T	A	18: 20,471,572 (GRCm39)		probably null	Het
Dzank1	T	C	2: 144,364,484 (GRCm39)	T38A	probably damaging	Het
Egfem1	A	G	3: 29,740,940 (GRCm39)	H538R	probably damaging	Het
Entpd1	T	C	19: 40,715,891 (GRCm39)	C353R	probably damaging	Het
Ephx2	C	A	14: 66,347,678 (GRCm39)	C78F	probably benign	Het
Faf2	A	T	13: 54,808,774 (GRCm39)	H388L	probably benign	Het
Fam186a	G	A	15: 99,842,545 (GRCm39)	T1233I	possibly damaging	Het
Gfra2	C	A	14: 71,133,410 (GRCm39)	A80E	probably damaging	Het
Gm17175	T	A	14: 51,811,492 (GRCm39)		probably benign	Het
Gm8180	T	C	14: 44,021,103 (GRCm39)	D35G	possibly damaging	Het
Gpr68	C	T	12: 100,845,302 (GRCm39)	V81M	probably damaging	Het
Hsd3b6	A	G	3: 98,718,259 (GRCm39)	L35P	probably damaging	Het
Hspd1	A	C	1: 55,117,803 (GRCm39)	V485G	possibly damaging	Het
Il16	A	G	7: 83,319,348 (GRCm39)	V381A	possibly damaging	Het
Il17rd	G	A	14: 26,822,074 (GRCm39)	C600Y	probably benign	Het
Ins2	C	A	7: 142,233,323 (GRCm39)		probably benign	Het
Iqca1l	G	T	5: 24,750,420 (GRCm39)	Q626K	possibly damaging	Het
Itsn2	T	C	12: 4,708,561 (GRCm39)	I872T	probably benign	Het
Jakmip3	A	T	7: 138,620,858 (GRCm39)	D219V	probably damaging	Het
Jph4	T	C	14: 55,347,192 (GRCm39)	T452A	probably damaging	Het
Kazn	T	C	4: 141,937,481 (GRCm39)	E12G	unknown	Het
Kif20b	A	C	19: 34,928,355 (GRCm39)	S1206R	possibly damaging	Het
Lca5l	A	G	16: 95,963,757 (GRCm39)		probably null	Het
Lgals2	A	T	15: 78,735,533 (GRCm39)	S60R	probably benign	Het
Lrrc37	T	A	11: 103,504,999 (GRCm39)	H2323L	possibly damaging	Het
Map10	A	G	8: 126,398,350 (GRCm39)	E581G	probably benign	Het
Map2k7	G	T	8: 4,293,744 (GRCm39)	R128L	probably benign	Het
Mapk8	G	C	14: 33,132,834 (GRCm39)	S34*	probably null	Het
Mmp2	T	C	8: 93,576,798 (GRCm39)	L607P	probably benign	Het
Ncor1	A	T	11: 62,224,752 (GRCm39)	V836E	probably damaging	Het
Neb	A	G	2: 52,027,392 (GRCm39)	S7113P	probably damaging	Het
Nphp4	T	C	4: 152,608,729 (GRCm39)	F446L	possibly damaging	Het
Nphp4	G	T	4: 152,628,860 (GRCm39)	D749Y	probably damaging	Het
Or14j4	T	A	17: 37,921,547 (GRCm39)	T32S	probably benign	Het
Or1j10	T	C	2: 36,266,821 (GRCm39)	I11T	possibly damaging	Het
Or4c99	A	G	2: 88,329,416 (GRCm39)		probably benign	Het
Or5k8	T	C	16: 58,644,365 (GRCm39)	K236E	probably damaging	Het
Osbpl11	A	T	16: 33,030,431 (GRCm39)	R220*	probably null	Het
Plrg1	G	A	3: 82,964,144 (GRCm39)	V26M	probably damaging	Het
Polr1b	C	A	2: 128,967,464 (GRCm39)	F952L	probably damaging	Het
Ppfia3	A	C	7: 45,001,686 (GRCm39)	S560A	probably benign	Het
Ppp3cc	T	A	14: 70,462,464 (GRCm39)	N391I	possibly damaging	Het
Prdx6b	T	C	2: 80,123,304 (GRCm39)	S38P	possibly damaging	Het
Psg23	A	T	7: 18,340,839 (GRCm39)	*472R	probably null	Het
Rapgef4	A	T	2: 72,053,461 (GRCm39)	M587L	probably benign	Het
Rfx3	T	A	19: 27,803,470 (GRCm39)	M247L	probably benign	Het
Rgs7	T	A	1: 174,903,635 (GRCm39)	H463L	probably benign	Het
Riiad1	G	T	3: 94,373,162 (GRCm39)	S106R	probably benign	Het
Rims4	A	C	2: 163,760,548 (GRCm39)	I19S	probably benign	Het
Ros1	A	T	10: 51,972,233 (GRCm39)	M1648K	probably benign	Het
Rrn3	T	C	16: 13,629,453 (GRCm39)	F590L	probably benign	Het
Samd9l	T	A	6: 3,374,793 (GRCm39)	T823S	possibly damaging	Het
Sfxn1	C	A	13: 54,245,250 (GRCm39)	P115Q	possibly damaging	Het
Slc10a7	T	C	8: 79,425,202 (GRCm39)		probably null	Het
Slc25a16	A	T	10: 62,773,199 (GRCm39)	M142L	probably benign	Het
Stat2	CGCTGGAGCCAGCCCCACAAGTCCTGCTGGAGCCAGCCCCACAAGTCCTGCTGGAGCCAGCCCCACAAGTCCTGCTGGAGCCAGCCCCACAAGTCCTGCTGGAGCCAGCCCCACAAGTCCAGCTGGAGCCAGCCCCACAAGTCCTGCTGGAGCTAGCCCCACAAGTCCTGCTGGAGCCAGCCCCACAAGTCCTGCTGGAGCTAGCCCCACAAGTCCAGCTGGAGCCAGC	CGCTGGAGCCAGCCCCACAAGTCCTGCTGGAGCCAGCCCCACAAGTCCTGCTGGAGCCAGCCCCACAAGTCCTGCTGGAGCCAGCCCCACAAGTCCAGCTGGAGCCAGCCCCACAAGTCCTGCTGGAGCTAGCCCCACAAGTCCTGCTGGAGCCAGCCCCACAAGTCCTGCTGGAGCTAGCCCCACAAGTCCAGCTGGAGCCAGC	10: 128,126,597 (GRCm39)		probably benign	Het
Stat5a	T	G	11: 100,765,853 (GRCm39)	L313R	probably damaging	Het
Strap	A	G	6: 137,718,976 (GRCm39)	E176G	possibly damaging	Het
Tlr4	T	G	4: 66,759,316 (GRCm39)	L703R	probably damaging	Het
Trim36	A	T	18: 46,300,691 (GRCm39)	V660D	possibly damaging	Het
Tspoap1	T	A	11: 87,666,350 (GRCm39)	D980E	probably damaging	Het
Usp28	T	C	9: 48,915,218 (GRCm39)	V157A	probably benign	Het
Vmn2r17	A	T	5: 109,575,739 (GRCm39)	R203S	probably benign	Het
Vmn2r66	T	C	7: 84,656,472 (GRCm39)	I181M	probably benign	Het
Zan	T	A	5: 137,461,841 (GRCm39)	T1113S	unknown	Het
Zfp442	C	T	2: 150,251,402 (GRCm39)	D167N	possibly damaging	Het

Other mutations in Mcat

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R0569:Mcat	UTSW	15	83,433,449 (GRCm39)	missense	probably benign	0.00
R1497:Mcat	UTSW	15	83,433,453 (GRCm39)	nonsense	probably null
R5518:Mcat	UTSW	15	83,431,875 (GRCm39)	splice site	probably null
R5909:Mcat	UTSW	15	83,432,116 (GRCm39)	missense	probably benign	0.20
R6508:Mcat	UTSW	15	83,433,452 (GRCm39)	missense	probably benign
R6582:Mcat	UTSW	15	83,433,383 (GRCm39)	missense	probably benign	0.00
R6964:Mcat	UTSW	15	83,432,132 (GRCm39)	unclassified	probably benign
R7599:Mcat	UTSW	15	83,431,872 (GRCm39)	missense	probably damaging	1.00
R8306:Mcat	UTSW	15	83,439,592 (GRCm39)	missense	probably damaging	0.99
R8825:Mcat	UTSW	15	83,436,812 (GRCm39)	missense	probably benign	0.00
R9064:Mcat	UTSW	15	83,432,134 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CCTAGCAGCTTTCGGATGTG -3'
(R):5'- AAGCATTTGCCACTGAAGC -3'

Sequencing Primer
(F):5'- CTAGCAGCTTTCGGATGTGTTGTG -3'
(R):5'- CTACATAGTGAGTTCCAAGCTGGC -3'

Posted On

2019-11-26