Mutagenetix > Incidental Mutation

Incidental Mutation 'R0312:Naa35'

25300

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

038522-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.962) question?

Stock #

R0312 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

59733147-59782612 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 59757395 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 257 (T257A)

Ref Sequence

ENSEMBL: ENSMUSP00000126079 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000022038] [ENSMUST00000164011] [ENSMUST00000166923] [ENSMUST00000172419]

AlphaFold

Q6PHQ8

Predicted Effect

probably benign
Transcript: ENSMUST00000022038
AA Change: T289A

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)

SMART Domains

Protein: ENSMUSP00000022038
Gene: ENSMUSG00000021555
AA Change: T289A

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

noncoding transcript
Transcript: ENSMUST00000163395

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: ENSMUST00000166923

SMART Domains

Protein: ENSMUSP00000128097
Gene: ENSMUSG00000021555

Domain	Start	End	E-Value	Type
Pfam:Mak10	44	188	1.1e-47	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000168242

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000171391

Predicted Effect

unknown
Transcript: ENSMUST00000172166
AA Change: T27A

Predicted Effect

probably benign
Transcript: ENSMUST00000172419
AA Change: T257A

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000126079
Gene: ENSMUSG00000021555
AA Change: T257A

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000225230

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000225670

Meta Mutation Damage Score

0.0907

Coding Region Coverage

1x: 98.9%
3x: 97.9%
10x: 95.3%
20x: 90.3%

Validation Efficiency

100% (60/60)

Allele List at MGI

Other mutations in this stock

Total: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb5	G	T	12: 118,836,572 (GRCm39)	A1113D	probably damaging	Het
Adcy1	G	T	11: 7,099,538 (GRCm39)	A673S	probably benign	Het
Apob	T	A	12: 8,059,034 (GRCm39)	H2505Q	probably benign	Het
Arhgap12	A	G	18: 6,061,982 (GRCm39)		probably benign	Het
Bcl9	C	T	3: 97,116,727 (GRCm39)	E656K	probably benign	Het
Bnc1	C	T	7: 81,627,072 (GRCm39)	R106H	possibly damaging	Het
Ccdc54	T	C	16: 50,411,165 (GRCm39)	K34E	possibly damaging	Het
Cfap65	G	A	1: 74,943,226 (GRCm39)	R1600W	probably damaging	Het
Csmd1	A	T	8: 16,034,760 (GRCm39)	N2470K	probably damaging	Het
Cspp1	T	C	1: 10,129,054 (GRCm39)		probably benign	Het
Dgkz	A	T	2: 91,768,684 (GRCm39)	I699N	probably damaging	Het
Dhx40	G	A	11: 86,662,775 (GRCm39)	T639I	probably damaging	Het
Dlg1	A	G	16: 31,609,085 (GRCm39)	T227A	probably benign	Het
Dnah10	G	A	5: 124,873,433 (GRCm39)		probably benign	Het
Dnah3	T	A	7: 119,644,882 (GRCm39)	K1133M	probably damaging	Het
Dock5	G	C	14: 68,033,440 (GRCm39)	F976L	possibly damaging	Het
Evc	C	T	5: 37,485,885 (GRCm39)	C97Y	possibly damaging	Het
Fbxw7	T	C	3: 84,874,876 (GRCm39)		probably benign	Het
Fggy	A	C	4: 95,732,422 (GRCm39)	D112A	probably damaging	Het
Fpgs	A	G	2: 32,574,813 (GRCm39)	Y435H	probably damaging	Het
Fryl	T	A	5: 73,230,231 (GRCm39)	H1642L	probably damaging	Het
G3bp1	T	C	11: 55,389,452 (GRCm39)	F383L	probably damaging	Het
Gda	T	A	19: 21,394,369 (GRCm39)	I237F	probably damaging	Het
Glt1d1	A	G	5: 127,768,134 (GRCm39)	N247S	probably damaging	Het
Gm7647	T	C	5: 95,110,839 (GRCm39)	S7P	probably benign	Het
Gpr31b	C	T	17: 13,270,498 (GRCm39)	V224I	probably damaging	Het
Hlf	G	A	11: 90,278,701 (GRCm39)	P121L	possibly damaging	Het
Hsh2d	G	A	8: 72,954,304 (GRCm39)	D229N	probably benign	Het
Ism1	G	T	2: 139,520,592 (GRCm39)	M1I	probably null	Het
Kansl1l	T	C	1: 66,817,265 (GRCm39)	N365S	probably null	Het
Lama1	T	C	17: 68,082,846 (GRCm39)	L1368P	possibly damaging	Het
Lima1	A	G	15: 99,678,968 (GRCm39)	V491A	possibly damaging	Het
Lrch1	G	T	14: 75,185,034 (GRCm39)	H23N	possibly damaging	Het
Lrp1b	A	G	2: 41,172,183 (GRCm39)	V1488A	probably damaging	Het
Lrp8	T	C	4: 107,664,052 (GRCm39)		probably benign	Het
Lrrc8e	A	G	8: 4,285,733 (GRCm39)	S653G	probably benign	Het
Mnat1	A	G	12: 73,228,558 (GRCm39)	T141A	possibly damaging	Het
Mpeg1	C	A	19: 12,439,767 (GRCm39)	N408K	probably damaging	Het
Myo7b	T	C	18: 32,147,390 (GRCm39)	E51G	possibly damaging	Het
Myrf	G	C	19: 10,195,526 (GRCm39)	T428S	probably benign	Het
Obox5	T	A	7: 15,491,485 (GRCm39)	H8Q	probably damaging	Het
Or1j4	A	T	2: 36,740,372 (GRCm39)	I105L	probably benign	Het
Or51q1c	T	C	7: 103,653,232 (GRCm39)	V250A	probably damaging	Het
Or5h26	A	T	16: 58,988,202 (GRCm39)	F101L	probably benign	Het
Phldb2	G	T	16: 45,609,410 (GRCm39)	T732N	probably damaging	Het
Phyhip	G	T	14: 70,704,410 (GRCm39)	A210S	possibly damaging	Het
Pik3r4	A	G	9: 105,563,409 (GRCm39)	D1262G	probably damaging	Het
Pip	G	A	6: 41,826,798 (GRCm39)	E48K	possibly damaging	Het
Plk4	C	T	3: 40,767,982 (GRCm39)	L74F	probably damaging	Het
Prdm14	G	A	1: 13,189,031 (GRCm39)	R438W	probably damaging	Het
Rab19	G	A	6: 39,361,023 (GRCm39)	R57H	probably benign	Het
Rtl1	G	T	12: 109,556,661 (GRCm39)	P1726Q	probably damaging	Het
Sema6a	G	A	18: 47,423,112 (GRCm39)		probably null	Het
Skint6	A	T	4: 112,666,297 (GRCm39)	V1176D	possibly damaging	Het
Slc12a1	A	G	2: 125,067,948 (GRCm39)	I1012V	probably damaging	Het
Slc1a3	C	T	15: 8,665,721 (GRCm39)	M509I	probably benign	Het
Spata18	G	A	5: 73,824,224 (GRCm39)	G35E	probably benign	Het
Spata31h1	A	T	10: 82,120,203 (GRCm39)	I4269N	probably damaging	Het
Sspo	C	T	6: 48,432,335 (GRCm39)	P801L	possibly damaging	Het
Ugt2b37	C	T	5: 87,398,524 (GRCm39)	G304D	probably damaging	Het
Vmn2r25	A	T	6: 123,805,539 (GRCm39)		probably benign	Het
Xrcc6	C	A	15: 81,911,423 (GRCm39)		probably null	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
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
R7531:Naa35	UTSW	13	59,765,755 (GRCm39)	nonsense	probably null
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'- CCTGTTGAGGATTTGAGCATCCTGC -3'
(R):5'- CATCTGCAAAGAAGGCTAAAGCACG -3'

Sequencing Primer
(F):5'- GCTGCATTAAGTGAACAATGTGTG -3'
(R):5'- GCTTAATATTCGGCGGAAACCTC -3'

Posted On

2013-04-16