Mutagenetix > Incidental Mutation

Incidental Mutation 'R7531:Naa35'

583333

Institutional Source

Beutler Lab

Gene Symbol

Naa35

Ensembl Gene

ENSMUSG00000021555

Gene Name

N(alpha)-acetyltransferase 35, NatC auxiliary subunit

Synonyms

Mak10, A330027C19Rik, C030004C14Rik, A330021G12Rik

MMRRC Submission

045603-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.962) question?

Stock #

R7531 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

59733147-59782612 bp(+) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

A to T at 59765755 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Stop codon at position 380 (K380*)

Ref Sequence

ENSEMBL: ENSMUSP00000022038 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000022038] [ENSMUST00000164011] [ENSMUST00000165253] [ENSMUST00000172419]

AlphaFold

Q6PHQ8

Predicted Effect

probably null
Transcript: ENSMUST00000022038
AA Change: K380*

SMART Domains

Protein: ENSMUSP00000022038
Gene: ENSMUSG00000021555
AA Change: K380*

Domain	Start	End	E-Value	Type
Pfam:Mak10	45	145	2.2e-29	PFAM
Pfam:Mak10	141	194	3.7e-10	PFAM
low complexity region	561	568	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000164011

SMART Domains

Protein: ENSMUSP00000127270
Gene: ENSMUSG00000021555

Domain	Start	End	E-Value	Type
Pfam:Mak10	1	119	1.9e-37	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000165253

Predicted Effect

probably null
Transcript: ENSMUST00000172166
AA Change: K118*

Predicted Effect

probably null
Transcript: ENSMUST00000172419
AA Change: K348*

SMART Domains

Protein: ENSMUSP00000126079
Gene: ENSMUSG00000021555
AA Change: K348*

Domain	Start	End	E-Value	Type
Pfam:Mak10	40	193	1.2e-55	PFAM

Meta Mutation Damage Score

0.9755

Coding Region Coverage

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

Validation Efficiency

100% (54/54)

Allele List at MGI

Other mutations in this stock

Total: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca12	T	A	1: 71,286,332 (GRCm39)	T2501S	probably damaging	Het
Abcg3	A	G	5: 105,125,507 (GRCm39)	Y59H	probably benign	Het
Acsf2	G	T	11: 94,464,057 (GRCm39)		probably null	Het
Adam25	T	A	8: 41,206,914 (GRCm39)	I60K	probably damaging	Het
Agrn	A	T	4: 156,254,261 (GRCm39)	V1729E	probably damaging	Het
Aldh9a1	G	A	1: 167,177,895 (GRCm39)	V31I	probably benign	Het
Aqp5	T	C	15: 99,489,180 (GRCm39)	F10L	possibly damaging	Het
Arfgap2	T	A	2: 91,104,089 (GRCm39)		probably null	Het
Asb7	T	C	7: 66,328,884 (GRCm39)	H52R	probably damaging	Het
Aspa	G	A	11: 73,204,351 (GRCm39)	Q206*	probably null	Het
Bpgm	A	G	6: 34,481,223 (GRCm39)	I207V	possibly damaging	Het
Brinp2	A	G	1: 158,094,142 (GRCm39)	S187P	possibly damaging	Het
Clec4e	A	G	6: 123,262,533 (GRCm39)	F128S	probably benign	Het
Crisp3	A	G	17: 40,545,629 (GRCm39)	F82L	probably benign	Het
Cry2	A	G	2: 92,243,350 (GRCm39)	L497P	probably damaging	Het
Dcxr	A	G	11: 120,617,832 (GRCm39)	V48A	probably benign	Het
Ddx11	A	T	17: 66,445,214 (GRCm39)	T379S	probably benign	Het
Depdc1a	A	C	3: 159,228,276 (GRCm39)	T343P	probably damaging	Het
Dhx36	T	C	3: 62,392,389 (GRCm39)	I546V	probably damaging	Het
Fam114a2	A	G	11: 57,404,542 (GRCm39)	V74A	probably benign	Het
Fcgbpl1	T	C	7: 27,839,656 (GRCm39)	F490L	probably benign	Het
Flg2	A	T	3: 93,108,177 (GRCm39)	R68S	probably damaging	Het
Glb1l3	T	C	9: 26,764,950 (GRCm39)	I154V	possibly damaging	Het
Gm45844	T	C	7: 7,243,185 (GRCm39)	T22A	probably benign	Het
Gramd2a	A	T	9: 59,617,193 (GRCm39)	I83F	probably damaging	Het
Hcn4	A	G	9: 58,767,420 (GRCm39)	T994A	unknown	Het
Hectd1	C	T	12: 51,853,150 (GRCm39)	V124I	probably benign	Het
Hmcn1	A	T	1: 150,562,531 (GRCm39)	D2342E	probably benign	Het
Hyal6	A	T	6: 24,740,786 (GRCm39)	H313L	possibly damaging	Het
Ifnab	T	A	4: 88,609,523 (GRCm39)		probably benign	Het
Keap1	A	G	9: 21,148,623 (GRCm39)	I128T	probably benign	Het
Kit	T	C	5: 75,767,700 (GRCm39)	S28P	probably damaging	Het
Krtap5-3	T	A	7: 141,755,942 (GRCm39)	C260S	unknown	Het
Lepr	T	A	4: 101,609,372 (GRCm39)	W320R	probably damaging	Het
Lmod3	A	T	6: 97,225,403 (GRCm39)	N139K	probably benign	Het
Marchf1	C	G	8: 66,838,989 (GRCm39)	S10R	probably benign	Het
Npy1r	C	A	8: 67,157,546 (GRCm39)	F285L	probably damaging	Het
Nr1h3	C	T	2: 91,014,739 (GRCm39)	R427H	probably damaging	Het
Or5p79	T	A	7: 108,221,269 (GRCm39)	N83K	probably benign	Het
Pate2	A	G	9: 35,582,008 (GRCm39)		probably null	Het
Pcmt1	A	G	10: 7,556,369 (GRCm39)		probably null	Het
Prg4	T	G	1: 150,330,786 (GRCm39)	E629A	unknown	Het
Rin2	T	G	2: 145,700,419 (GRCm39)	S199A	probably benign	Het
Ror1	T	A	4: 100,298,388 (GRCm39)	L587Q	probably damaging	Het
Rsl1	T	A	13: 67,324,566 (GRCm39)	C31S	possibly damaging	Het
Scn4a	A	G	11: 106,239,523 (GRCm39)		probably null	Het
Sema3a	T	C	5: 13,615,805 (GRCm39)	Y410H	probably damaging	Het
Smpd5	T	C	15: 76,180,539 (GRCm39)	V447A	probably benign	Het
Tax1bp1	A	T	6: 52,723,682 (GRCm39)	D524V	probably benign	Het
Tesc	A	T	5: 118,197,523 (GRCm39)	Y179F	probably damaging	Het
Tm9sf2	T	C	14: 122,379,824 (GRCm39)	S292P	possibly damaging	Het
Unc45b	A	G	11: 82,819,838 (GRCm39)	D543G	probably damaging	Het
Usp4	T	A	9: 108,249,879 (GRCm39)	V469E	probably damaging	Het
Vmn1r10	T	A	6: 57,090,924 (GRCm39)	I172N	possibly damaging	Het
Zfyve16	A	G	13: 92,659,473 (GRCm39)	L146S	probably damaging	Het

Other mutations in Naa35

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00476:Naa35	APN	13	59,777,869 (GRCm39)	missense	probably damaging	1.00
IGL00743:Naa35	APN	13	59,778,485 (GRCm39)	missense	probably benign	0.33
IGL01335:Naa35	APN	13	59,764,610 (GRCm39)	missense	probably damaging	1.00
IGL01385:Naa35	APN	13	59,748,880 (GRCm39)	missense	probably damaging	1.00
IGL01541:Naa35	APN	13	59,748,777 (GRCm39)	missense	probably damaging	1.00
IGL02129:Naa35	APN	13	59,757,339 (GRCm39)	missense	probably damaging	0.99
IGL02867:Naa35	APN	13	59,756,668 (GRCm39)	intron	probably benign
IGL02966:Naa35	APN	13	59,734,085 (GRCm39)	missense	probably benign
IGL03260:Naa35	APN	13	59,775,699 (GRCm39)	missense	probably benign	0.05
R0312:Naa35	UTSW	13	59,757,395 (GRCm39)	missense	probably benign	0.01
R0557:Naa35	UTSW	13	59,775,778 (GRCm39)	missense	probably damaging	0.99
R1553:Naa35	UTSW	13	59,766,093 (GRCm39)	critical splice donor site	probably null
R1611:Naa35	UTSW	13	59,776,747 (GRCm39)	missense	probably benign	0.01
R1676:Naa35	UTSW	13	59,760,490 (GRCm39)	missense	probably damaging	1.00
R3709:Naa35	UTSW	13	59,765,846 (GRCm39)	splice site	probably benign
R3896:Naa35	UTSW	13	59,755,109 (GRCm39)	missense	probably damaging	1.00
R5001:Naa35	UTSW	13	59,773,345 (GRCm39)	missense	possibly damaging	0.75
R5647:Naa35	UTSW	13	59,770,680 (GRCm39)	unclassified	probably benign
R5649:Naa35	UTSW	13	59,770,680 (GRCm39)	unclassified	probably benign
R5650:Naa35	UTSW	13	59,770,680 (GRCm39)	unclassified	probably benign
R5656:Naa35	UTSW	13	59,770,680 (GRCm39)	unclassified	probably benign
R6734:Naa35	UTSW	13	59,756,005 (GRCm39)	missense	possibly damaging	0.83
R6735:Naa35	UTSW	13	59,773,378 (GRCm39)	missense	probably damaging	1.00
R6985:Naa35	UTSW	13	59,775,757 (GRCm39)	missense	probably benign	0.03
R7165:Naa35	UTSW	13	59,733,997 (GRCm39)	missense	probably benign	0.05
R7713:Naa35	UTSW	13	59,745,919 (GRCm39)	missense	probably benign	0.01
R7739:Naa35	UTSW	13	59,747,598 (GRCm39)	missense	probably damaging	1.00
R8685:Naa35	UTSW	13	59,734,036 (GRCm39)	missense	probably benign	0.43
R8818:Naa35	UTSW	13	59,748,761 (GRCm39)	missense	probably damaging	1.00
R8838:Naa35	UTSW	13	59,775,775 (GRCm39)	missense	probably benign
R9006:Naa35	UTSW	13	59,748,842 (GRCm39)	missense	possibly damaging	0.68
R9132:Naa35	UTSW	13	59,772,341 (GRCm39)	missense	possibly damaging	0.84
R9403:Naa35	UTSW	13	59,748,817 (GRCm39)	missense	possibly damaging	0.74

Predicted Primers

PCR Primer
(F):5'- GGCAAATTTATGAACAAGCGAC -3'
(R):5'- ACTGGTCCTGAGAGGTCTTC -3'

Sequencing Primer
(F):5'- GTGTGGTGCACAGACATACATTC -3'
(R):5'- CCTGAGAGGTCTTCATCTACAGAG -3'

Posted On

2019-10-17