Mutagenetix > Incidental Mutation

Incidental Mutation 'R5662:Acsm4'

444133

Institutional Source

Beutler Lab

Gene Symbol

Acsm4

Ensembl Gene

ENSMUSG00000047026

Gene Name

acyl-CoA synthetase medium-chain family member 4

Synonyms

OMACS, O-MACS

MMRRC Submission

043305-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.061) question?

Stock #

R5662 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

119289249-119313788 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 119294023 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Lysine at position 131 (N131K)

Ref Sequence

ENSEMBL: ENSMUSP00000045160 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000047045]

AlphaFold

Q80W40

Predicted Effect

possibly damaging
Transcript: ENSMUST00000047045
AA Change: N131K

PolyPhen 2 Score 0.494 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000045160
Gene: ENSMUSG00000047026
AA Change: N131K

Domain	Start	End	E-Value	Type
Pfam:AMP-binding	64	478	5.8e-83	PFAM
Pfam:AMP-binding_C	486	566	1.4e-22	PFAM

Coding Region Coverage

1x: 99.4%
3x: 98.8%
10x: 97.5%
20x: 95.8%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acan	T	A	7: 78,749,855 (GRCm39)	V1542D	possibly damaging	Het
Ankrd54	A	G	15: 78,946,814 (GRCm39)	S62P	possibly damaging	Het
Ccdc186	A	G	19: 56,781,920 (GRCm39)	I753T	probably benign	Het
Cers2	C	T	3: 95,228,295 (GRCm39)	R112C	probably damaging	Het
Col6a4	C	G	9: 105,945,200 (GRCm39)	R971S	probably damaging	Het
Ctsf	T	C	19: 4,906,606 (GRCm39)	S178P	probably damaging	Het
Dennd4c	C	T	4: 86,713,525 (GRCm39)	T492I	probably benign	Het
Dhx8	A	G	11: 101,657,584 (GRCm39)	K1212E	possibly damaging	Het
Dnah8	A	G	17: 30,956,307 (GRCm39)	T2096A	probably damaging	Het
Ephb4	A	T	5: 137,370,457 (GRCm39)	I886F	probably damaging	Het
Eprs1	T	G	1: 185,126,622 (GRCm39)	N519K	possibly damaging	Het
Fam3c	T	C	6: 22,355,061 (GRCm39)		probably benign	Het
Galnt17	G	A	5: 131,114,844 (GRCm39)	R219C	probably damaging	Het
Gm10645	A	G	8: 83,892,486 (GRCm39)		probably benign	Het
Gpr132	G	A	12: 112,816,416 (GRCm39)	R137C	probably damaging	Het
Hydin	T	G	8: 111,307,341 (GRCm39)	S3907A	probably benign	Het
Ighv1-49	A	T	12: 115,019,027 (GRCm39)	V56E	probably damaging	Het
Igtp	A	G	11: 58,097,105 (GRCm39)	D92G	probably damaging	Het
Itga1	C	T	13: 115,122,707 (GRCm39)	V750I	probably benign	Het
Katnip	A	G	7: 125,441,875 (GRCm39)	R595G	probably benign	Het
Kif3c	T	A	12: 3,417,031 (GRCm39)	Y351N	probably damaging	Het
Klhdc1	T	A	12: 69,329,939 (GRCm39)	I356N	probably benign	Het
Lrrc34	T	C	3: 30,685,473 (GRCm39)	Y292C	probably benign	Het
Ly75	G	A	2: 60,182,725 (GRCm39)	T526M	probably damaging	Het
Mroh4	A	T	15: 74,497,277 (GRCm39)	D181E	possibly damaging	Het
Nutm1	T	C	2: 112,079,645 (GRCm39)	N757D	probably benign	Het
Or1e25	T	C	11: 73,494,005 (GRCm39)	F200L	probably benign	Het
Or1m1	A	G	9: 18,666,896 (GRCm39)	F12L	probably damaging	Het
Or6c215	T	C	10: 129,638,176 (GRCm39)	T73A	possibly damaging	Het
Or9s18	T	C	13: 65,300,067 (GRCm39)	F10L	possibly damaging	Het
Paxbp1	G	A	16: 90,834,285 (GRCm39)	T167M	probably benign	Het
Pnpla7	A	G	2: 24,942,396 (GRCm39)	D1238G	probably damaging	Het
Pom121l2	T	C	13: 22,166,358 (GRCm39)	S210P	probably benign	Het
Ripor3	T	G	2: 167,835,476 (GRCm39)	N165T	probably benign	Het
Serpine3	T	G	14: 62,908,291 (GRCm39)	S106R	probably benign	Het
Slc25a11	G	A	11: 70,536,245 (GRCm39)	R158*	probably null	Het
Slc26a6	G	A	9: 108,736,538 (GRCm39)	V506M	possibly damaging	Het
Slc45a2	A	G	15: 11,022,169 (GRCm39)	K304E	probably benign	Het
Slc4a4	C	T	5: 89,176,103 (GRCm39)	L25F	probably damaging	Het
Smarcb1	T	C	10: 75,740,404 (GRCm39)	N267S	possibly damaging	Het
Spink6	C	A	18: 44,207,481 (GRCm39)	Q24K	possibly damaging	Het
Srebf2	T	C	15: 82,079,204 (GRCm39)	S811P	probably benign	Het
Ssc4d	A	G	5: 135,989,748 (GRCm39)	*587R	probably null	Het
Sult2a8	C	T	7: 14,161,765 (GRCm39)	R27H	probably benign	Het
Sun2	C	T	15: 79,623,069 (GRCm39)	A90T	probably benign	Het
Ubr7	T	C	12: 102,734,526 (GRCm39)	S267P	probably benign	Het
Wdr55	G	A	18: 36,893,448 (GRCm39)	V37M	possibly damaging	Het
Xdh	C	T	17: 74,248,110 (GRCm39)	G45S	probably damaging	Het
Zfp638	T	A	6: 83,920,111 (GRCm39)	S570T	probably damaging	Het

Other mutations in Acsm4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01373:Acsm4	APN	7	119,310,642 (GRCm39)	nonsense	probably null
IGL01676:Acsm4	APN	7	119,307,866 (GRCm39)	missense	probably benign	0.00
IGL01801:Acsm4	APN	7	119,306,486 (GRCm39)	missense	possibly damaging	0.80
IGL02183:Acsm4	APN	7	119,293,075 (GRCm39)	splice site	probably null
IGL02220:Acsm4	APN	7	119,310,395 (GRCm39)	missense	probably damaging	1.00
IGL02637:Acsm4	APN	7	119,309,907 (GRCm39)	missense	probably damaging	1.00
IGL03290:Acsm4	APN	7	119,302,646 (GRCm39)	splice site	probably benign
I0000:Acsm4	UTSW	7	119,310,415 (GRCm39)	missense	probably damaging	1.00
PIT4382001:Acsm4	UTSW	7	119,297,798 (GRCm39)	missense	probably damaging	1.00
R1068:Acsm4	UTSW	7	119,307,933 (GRCm39)	missense	probably benign	0.00
R1386:Acsm4	UTSW	7	119,297,801 (GRCm39)	missense	probably benign
R1433:Acsm4	UTSW	7	119,293,042 (GRCm39)	missense	probably damaging	0.99
R1961:Acsm4	UTSW	7	119,307,963 (GRCm39)	missense	probably benign	0.04
R3957:Acsm4	UTSW	7	119,302,588 (GRCm39)	missense	possibly damaging	0.93
R4029:Acsm4	UTSW	7	119,293,008 (GRCm39)	missense	probably benign
R4072:Acsm4	UTSW	7	119,297,981 (GRCm39)	missense	probably benign	0.14
R4075:Acsm4	UTSW	7	119,297,981 (GRCm39)	missense	probably benign	0.14
R4076:Acsm4	UTSW	7	119,297,981 (GRCm39)	missense	probably benign	0.14
R4432:Acsm4	UTSW	7	119,310,610 (GRCm39)	missense	probably damaging	1.00
R4452:Acsm4	UTSW	7	119,297,797 (GRCm39)	missense	possibly damaging	0.92
R4757:Acsm4	UTSW	7	119,297,900 (GRCm39)	missense	probably benign
R4992:Acsm4	UTSW	7	119,310,640 (GRCm39)	missense	probably benign	0.43
R5046:Acsm4	UTSW	7	119,302,597 (GRCm39)	missense	probably damaging	0.99
R5473:Acsm4	UTSW	7	119,312,173 (GRCm39)	missense	probably damaging	1.00
R5780:Acsm4	UTSW	7	119,293,068 (GRCm39)	missense	possibly damaging	0.66
R6957:Acsm4	UTSW	7	119,310,622 (GRCm39)	missense	probably damaging	1.00
R7579:Acsm4	UTSW	7	119,292,933 (GRCm39)	missense	probably benign	0.01
R7892:Acsm4	UTSW	7	119,293,889 (GRCm39)	missense	possibly damaging	0.48
R8716:Acsm4	UTSW	7	119,307,883 (GRCm39)	missense	probably damaging	1.00
R8738:Acsm4	UTSW	7	119,304,264 (GRCm39)	missense	probably benign	0.00
R9616:Acsm4	UTSW	7	119,293,872 (GRCm39)	missense	probably benign	0.01
Z1177:Acsm4	UTSW	7	119,310,594 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- ATGTGTTCCTGGCCAGTCTG -3'
(R):5'- CAACTCTGAATAGTGCAACTCTC -3'

Sequencing Primer
(F):5'- TTCCTGGCCAGTCTGGAGAG -3'
(R):5'- TGCTGGGATCATAGAAACCTGTCC -3'

Posted On

2016-11-09