Mutagenetix > Incidental Mutation

Incidental Mutation 'R4514:Nat8f5'

332792

Institutional Source

Beutler Lab

Gene Symbol

Nat8f5

Ensembl Gene

ENSMUSG00000079494

Gene Name

N-acetyltransferase 8 (GCN5-related) family member 5

Synonyms

1810018F03Rik, Cml5

MMRRC Submission

041588-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4514 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

85794200-85797954 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 85794405 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Isoleucine at position 185 (T185I)

Ref Sequence

ENSEMBL: ENSMUSP00000032074 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000032074] [ENSMUST00000174143]

AlphaFold

Q9QXS8

Predicted Effect

possibly damaging
Transcript: ENSMUST00000032074
AA Change: T185I

PolyPhen 2 Score 0.527 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000032074
Gene: ENSMUSG00000079494
AA Change: T185I

Domain	Start	End	E-Value	Type
transmembrane domain	31	53	N/A	INTRINSIC
Pfam:Acetyltransf_10	73	192	2.7e-12	PFAM
Pfam:Acetyltransf_9	79	195	9.1e-10	PFAM
Pfam:Acetyltransf_8	84	201	9.2e-10	PFAM
Pfam:Acetyltransf_4	84	205	9.2e-9	PFAM
Pfam:Acetyltransf_7	104	194	3.1e-11	PFAM
Pfam:Acetyltransf_1	111	193	1.6e-15	PFAM
Pfam:Acetyltransf_CG	121	184	1.6e-11	PFAM
Pfam:FR47	131	201	4.3e-8	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000174143

SMART Domains

Protein: ENSMUSP00000133846
Gene: ENSMUSG00000079495

Domain	Start	End	E-Value	Type
transmembrane domain	37	56	N/A	INTRINSIC
Pfam:Acetyltransf_10	71	193	5.5e-11	PFAM
Pfam:Acetyltransf_4	75	202	1.1e-9	PFAM
Pfam:Acetyltransf_7	105	195	1.2e-10	PFAM
Pfam:Acetyltransf_1	112	194	2.6e-14	PFAM

Coding Region Coverage

1x: 99.4%
3x: 98.6%
10x: 96.9%
20x: 94.1%

Validation Efficiency

MGI Phenotype

PHENOTYPE: Mice homozygous for an ENU-induced mutation exhibit complex congenital heart disease associated with heterotaxy, abdominal organ situs anomalies, omphalocele and gastroschisis. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam5	T	G	8: 25,308,152 (GRCm39)	T51P	probably damaging	Het
Akr1c20	A	C	13: 4,557,843 (GRCm39)	V201G	probably damaging	Het
Alg9	C	T	9: 50,716,654 (GRCm39)	T409M	possibly damaging	Het
Arpp21	T	A	9: 112,006,745 (GRCm39)	T155S	probably damaging	Het
Atm	T	A	9: 53,404,339 (GRCm39)	Q1334L	probably damaging	Het
Bptf	G	A	11: 106,968,518 (GRCm39)	T1055M	probably damaging	Het
Cd3g	C	A	9: 44,884,882 (GRCm39)	A121S	possibly damaging	Het
Cenpn	A	G	8: 117,660,135 (GRCm39)	Y68C	probably damaging	Het
Clock	A	G	5: 76,378,046 (GRCm39)	I618T	probably benign	Het
Cp	A	G	3: 20,042,177 (GRCm39)	M982V	probably damaging	Het
Csf3r	T	A	4: 125,933,653 (GRCm39)	S611T	possibly damaging	Het
Csn3	A	G	5: 88,077,997 (GRCm39)	T168A	unknown	Het
Cylc2	C	G	4: 51,229,651 (GRCm39)	T331R	unknown	Het
D630003M21Rik	T	C	2: 158,046,722 (GRCm39)	T752A	probably benign	Het
Defb34	A	T	8: 19,176,522 (GRCm39)	D71V	probably damaging	Het
Dync1h1	T	A	12: 110,623,573 (GRCm39)	D3615E	possibly damaging	Het
Etl4	A	T	2: 20,666,709 (GRCm39)	T167S	probably damaging	Het
F5	T	A	1: 163,979,566 (GRCm39)		probably benign	Het
Got1l1	C	T	8: 27,688,513 (GRCm39)	M279I	probably benign	Het
Grm7	A	G	6: 111,335,265 (GRCm39)	T559A	possibly damaging	Het
Ifit1	A	T	19: 34,625,913 (GRCm39)	R350*	probably null	Het
Ighv2-5	T	C	12: 113,649,216 (GRCm39)	N79S	possibly damaging	Het
Igkv17-127	A	G	6: 67,838,498 (GRCm39)	I70V	possibly damaging	Het
Itga8	T	C	2: 12,187,547 (GRCm39)	S711G	probably benign	Het
Kndc1	A	G	7: 139,490,202 (GRCm39)	T235A	probably benign	Het
Lct	T	C	1: 128,228,251 (GRCm39)	I1081V	probably benign	Het
Lrrc8b	G	T	5: 105,627,819 (GRCm39)	C55F	probably damaging	Het
Lrwd1	T	C	5: 136,160,402 (GRCm39)	T311A	probably benign	Het
Mapk14	T	C	17: 28,943,798 (GRCm39)	F129S	probably damaging	Het
Mdga2	A	G	12: 66,763,496 (GRCm39)	I200T	probably damaging	Het
Mocos	T	A	18: 24,816,269 (GRCm39)	S615R	probably damaging	Het
Myh4	T	C	11: 67,146,395 (GRCm39)	V1456A	probably benign	Het
Myh9	T	C	15: 77,648,200 (GRCm39)	I1759V	probably benign	Het
Nav3	T	C	10: 109,529,943 (GRCm39)	I2133V	possibly damaging	Het
Ncam2	T	A	16: 81,309,884 (GRCm39)	M458K	probably benign	Het
Nphp1	T	C	2: 127,590,007 (GRCm39)	S532G	probably benign	Het
Oplah	A	G	15: 76,182,155 (GRCm39)	L1035P	probably damaging	Het
Or4p22	T	C	2: 88,317,709 (GRCm39)	V211A	probably benign	Het
Or52h2	C	T	7: 103,838,598 (GRCm39)	R272H	probably benign	Het
Pask	T	A	1: 93,249,855 (GRCm39)	Q515L	probably benign	Het
Poglut1	A	T	16: 38,369,778 (GRCm39)	F35I	probably benign	Het
Ppp1ca	T	G	19: 4,245,054 (GRCm39)	I319S	probably benign	Het
Psg25	T	A	7: 18,263,533 (GRCm39)	R97*	probably null	Het
Sars2	T	C	7: 28,441,709 (GRCm39)		probably null	Het
Slc15a4	A	G	5: 127,681,600 (GRCm39)		probably null	Het
Slc16a7	T	G	10: 125,069,308 (GRCm39)		probably null	Het
Slc7a8	C	G	14: 54,973,247 (GRCm39)	G240A	possibly damaging	Het
St6gal2	A	T	17: 55,790,018 (GRCm39)	N351Y	probably benign	Het
Susd5	T	C	9: 113,924,992 (GRCm39)	F292L	probably benign	Het
Tmco5	T	A	2: 116,710,795 (GRCm39)	D38E	probably damaging	Het
Tubgcp2	G	A	7: 139,575,984 (GRCm39)	P893L	possibly damaging	Het
Uncx	A	G	5: 139,532,522 (GRCm39)	I196V	possibly damaging	Het
Zeb1	G	A	18: 5,759,007 (GRCm39)	C138Y	probably damaging	Het
Zfp609	A	G	9: 65,610,977 (GRCm39)	I662T	possibly damaging	Het
Zfp985	G	A	4: 147,668,020 (GRCm39)	C296Y	probably damaging	Het

Other mutations in Nat8f5

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00824:Nat8f5	APN	6	85,794,279 (GRCm39)	missense	probably damaging	1.00
IGL01348:Nat8f5	APN	6	85,794,862 (GRCm39)	missense	probably damaging	0.98
IGL01672:Nat8f5	APN	6	85,794,934 (GRCm39)	missense	probably damaging	1.00
IGL01769:Nat8f5	APN	6	85,794,859 (GRCm39)	missense	probably benign	0.01
IGL02009:Nat8f5	APN	6	85,794,408 (GRCm39)	missense	probably benign	0.01
IGL02493:Nat8f5	APN	6	85,794,544 (GRCm39)	missense	probably benign	0.01
IGL03346:Nat8f5	APN	6	85,794,640 (GRCm39)	missense	probably damaging	1.00
IGL03373:Nat8f5	APN	6	85,794,529 (GRCm39)	missense	probably benign	0.02
E7848:Nat8f5	UTSW	6	85,794,601 (GRCm39)	missense	probably damaging	0.99
R0034:Nat8f5	UTSW	6	85,794,868 (GRCm39)	missense	probably benign	0.05
R0670:Nat8f5	UTSW	6	85,794,957 (GRCm39)	start codon destroyed	probably null	1.00
R1939:Nat8f5	UTSW	6	85,794,801 (GRCm39)	missense	possibly damaging	0.93
R5502:Nat8f5	UTSW	6	85,794,635 (GRCm39)	missense	probably damaging	1.00
R5770:Nat8f5	UTSW	6	85,794,657 (GRCm39)	missense	probably damaging	1.00
R8038:Nat8f5	UTSW	6	85,794,667 (GRCm39)	missense	possibly damaging	0.69
Z1176:Nat8f5	UTSW	6	85,794,667 (GRCm39)	missense	probably benign	0.43

Predicted Primers

PCR Primer
(F):5'- AGTAGTAATCCGGTGAGCATG -3'
(R):5'- CCAGTCAAGGATCCTCCATTAG -3'

Sequencing Primer
(F):5'- TCCGGTGAGCATGAAAAATATG -3'
(R):5'- TCCATTAGGGAGGAAGCAGATGC -3'

Posted On

2015-08-18