Mutagenetix > Incidental Mutation

Incidental Mutation 'R4496:Nat14'

330971

Institutional Source

Beutler Lab

Gene Symbol

Nat14

Ensembl Gene

ENSMUSG00000035285

Gene Name

N-acetyltransferase 14

Synonyms

MMRRC Submission

041749-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.089) question?

Stock #

R4496 (G1)

Quality Score

212

Status

Validated

Chromosome

Chromosomal Location

4925027-4928005 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 4926918 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Methionine at position 30 (T30M)

Ref Sequence

ENSEMBL: ENSMUSP00000147229 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000047309] [ENSMUST00000057612] [ENSMUST00000116354] [ENSMUST00000207506] [ENSMUST00000207527] [ENSMUST00000207687] [ENSMUST00000208754]

AlphaFold

Q8BVG8

Predicted Effect

probably damaging
Transcript: ENSMUST00000047309
AA Change: T30M

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000045354
Gene: ENSMUSG00000035285
AA Change: T30M

Domain	Start	End	E-Value	Type
low complexity region	35	51	N/A	INTRINSIC
transmembrane domain	55	77	N/A	INTRINSIC
low complexity region	88	97	N/A	INTRINSIC
Pfam:Acetyltransf_1	101	186	4.1e-7	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000057612

SMART Domains

Protein: ENSMUSP00000052126
Gene: ENSMUSG00000035279

Domain	Start	End	E-Value	Type
signal peptide	1	16	N/A	INTRINSIC
SR	20	120	4.44e-49	SMART
low complexity region	141	155	N/A	INTRINSIC
low complexity region	167	182	N/A	INTRINSIC
SR	199	299	2.36e-53	SMART
SR	305	405	8.22e-53	SMART
low complexity region	437	462	N/A	INTRINSIC
SR	464	565	1.11e-49	SMART
low complexity region	741	755	N/A	INTRINSIC
SR	758	858	3.93e-50	SMART
low complexity region	936	957	N/A	INTRINSIC
low complexity region	981	1004	N/A	INTRINSIC
low complexity region	1018	1035	N/A	INTRINSIC
low complexity region	1218	1230	N/A	INTRINSIC
low complexity region	1357	1364	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000116354

SMART Domains

Protein: ENSMUSP00000112058
Gene: ENSMUSG00000074406

Domain	Start	End	E-Value	Type
low complexity region	13	32	N/A	INTRINSIC
ZnF_C2H2	34	56	1.04e-3	SMART
ZnF_C2H2	62	84	2.4e-3	SMART
ZnF_C2H2	90	112	2.09e-3	SMART
ZnF_C2H2	118	140	1.56e-2	SMART
ZnF_C2H2	146	168	3.69e-4	SMART
ZnF_C2H2	174	196	7.49e-5	SMART
ZnF_C2H2	202	224	1.69e-3	SMART
low complexity region	225	238	N/A	INTRINSIC
low complexity region	255	275	N/A	INTRINSIC
ZnF_C2H2	289	309	1.38e2	SMART
low complexity region	334	344	N/A	INTRINSIC
ZnF_C2H2	346	368	1.76e-1	SMART
ZnF_C2H2	376	398	9.3e-1	SMART
low complexity region	422	440	N/A	INTRINSIC
ZnF_C2H2	446	468	2.75e-3	SMART
ZnF_C2H2	474	496	1.69e-3	SMART
ZnF_C2H2	502	524	1.45e-2	SMART
ZnF_C2H2	530	552	1.03e-2	SMART
ZnF_C2H2	558	580	3.44e-4	SMART
ZnF_C2H2	586	608	2.61e-4	SMART
ZnF_C2H2	614	636	7.9e-4	SMART
low complexity region	685	703	N/A	INTRINSIC
low complexity region	716	756	N/A	INTRINSIC
low complexity region	770	792	N/A	INTRINSIC
low complexity region	981	1000	N/A	INTRINSIC
low complexity region	1001	1018	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000207506
AA Change: T30M

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

Predicted Effect

probably damaging
Transcript: ENSMUST00000207527
AA Change: T30M

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

Predicted Effect

probably damaging
Transcript: ENSMUST00000207687
AA Change: T30M

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

Predicted Effect

probably damaging
Transcript: ENSMUST00000208754
AA Change: T30M

PolyPhen 2 Score 0.974 (Sensitivity: 0.76; Specificity: 0.96)

Meta Mutation Damage Score

0.1248

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.1%
20x: 94.8%

Validation Efficiency

100% (50/50)

Allele List at MGI

Other mutations in this stock

Total: 46 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca3	T	A	17: 24,602,947 (GRCm39)	L514H	possibly damaging	Het
Abca7	T	C	10: 79,838,768 (GRCm39)	F647S	probably damaging	Het
Ahi1	A	G	10: 20,841,444 (GRCm39)	K244E	probably benign	Het
Ankhd1	G	A	18: 36,693,839 (GRCm39)	D17N	probably damaging	Het
Arvcf	G	T	16: 18,223,932 (GRCm39)	K890N	probably damaging	Het
Atosa	T	A	9: 74,938,813 (GRCm39)	S1038T	probably damaging	Het
Atp11c	T	C	X: 59,326,104 (GRCm39)	D478G	probably damaging	Het
Clasrp	C	A	7: 19,319,165 (GRCm39)		probably benign	Het
Clca3a2	C	T	3: 144,797,926 (GRCm39)	D180N	possibly damaging	Het
Comt	T	C	16: 18,230,437 (GRCm39)		probably null	Het
Cylc2	C	G	4: 51,229,651 (GRCm39)	T331R	unknown	Het
Cyp2d11	C	T	15: 82,276,149 (GRCm39)		probably benign	Het
Fam169b	G	T	7: 68,007,954 (GRCm39)	C289F	possibly damaging	Het
Fastkd5	T	C	2: 130,458,501 (GRCm39)	T30A	probably benign	Het
Fchsd2	A	C	7: 100,931,702 (GRCm39)	T753P	probably benign	Het
Gatd3a	T	C	10: 77,999,377 (GRCm39)	I145V	probably damaging	Het
Glis3	G	A	19: 28,643,527 (GRCm39)	S5L	possibly damaging	Het
Gpr158	T	A	2: 21,831,810 (GRCm39)	M970K	probably damaging	Het
Gpt	A	T	15: 76,582,663 (GRCm39)	Q276L	probably damaging	Het
Gtf3c3	G	T	1: 54,463,291 (GRCm39)	S302R	probably benign	Het
Hnrnpc	A	G	14: 52,312,888 (GRCm39)	S229P	probably benign	Het
Ikzf5	T	C	7: 130,998,393 (GRCm39)		probably null	Het
Mal2	T	C	15: 54,461,835 (GRCm39)	V110A	probably damaging	Het
Mideas	C	T	12: 84,203,245 (GRCm39)	G886S	probably benign	Het
Myo3b	A	G	2: 70,084,748 (GRCm39)	D702G	probably benign	Het
Myo9b	G	A	8: 71,786,981 (GRCm39)	R721Q	probably benign	Het
Nat10	T	A	2: 103,588,084 (GRCm39)	I14F	probably damaging	Het
Ndst4	C	A	3: 125,476,922 (GRCm39)	A49D	probably damaging	Het
Nnt	A	T	13: 119,518,301 (GRCm39)	M292K	probably damaging	Het
Obox7	C	T	7: 14,399,299 (GRCm39)	T175I	probably benign	Het
Or2t26	T	A	11: 49,039,214 (GRCm39)	N43K	possibly damaging	Het
Or6c5c	T	G	10: 129,299,430 (GRCm39)	V295G	possibly damaging	Het
Plekhm3	T	C	1: 64,900,395 (GRCm39)	E634G	probably damaging	Het
Plxdc2	T	A	2: 16,517,040 (GRCm39)	I107K	probably damaging	Het
Psmb10	T	A	8: 106,662,660 (GRCm39)	R226S	probably damaging	Het
Ptprr	T	A	10: 116,065,407 (GRCm39)	V160E	possibly damaging	Het
Sema5a	T	A	15: 32,641,133 (GRCm39)	L649H	probably damaging	Het
Sephs1	T	A	2: 4,911,494 (GRCm39)	I356K	probably benign	Het
Serpinb3d	C	T	1: 107,007,022 (GRCm39)	V229M	probably damaging	Het
Slc7a4	T	C	16: 17,393,676 (GRCm39)	D41G	probably damaging	Het
Sort1	T	C	3: 108,217,461 (GRCm39)	V121A	probably benign	Het
Tcf20	C	A	15: 82,739,185 (GRCm39)	Q755H	probably damaging	Het
Tmem181a	T	A	17: 6,346,061 (GRCm39)	L185H	probably damaging	Het
Ttll13	A	T	7: 79,906,667 (GRCm39)	Y445F	probably benign	Het
Usp40	T	C	1: 87,923,459 (GRCm39)	I271V	possibly damaging	Het
Vmn1r72	A	G	7: 11,403,791 (GRCm39)	I219T	probably damaging	Het

Other mutations in Nat14

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02513:Nat14	APN	7	4,927,050 (GRCm39)	missense	possibly damaging	0.94
IGL02983:Nat14	APN	7	4,927,127 (GRCm39)	missense	probably damaging	1.00
R0611:Nat14	UTSW	7	4,926,275 (GRCm39)	missense	probably damaging	0.98
R2113:Nat14	UTSW	7	4,927,038 (GRCm39)	missense	possibly damaging	0.94
R4663:Nat14	UTSW	7	4,927,446 (GRCm39)	missense	probably damaging	0.99
R6294:Nat14	UTSW	7	4,927,073 (GRCm39)	nonsense	probably null
R7084:Nat14	UTSW	7	4,927,329 (GRCm39)	missense	possibly damaging	0.75

Predicted Primers

PCR Primer
(F):5'- GCAAACCGCATTCATTCGC -3'
(R):5'- TTGCTGAATTCCCTAACCAGC -3'

Sequencing Primer
(F):5'- AACCGCATTCATTCGCTCAGC -3'
(R):5'- ACGGTGCCATCGAGAGAC -3'

Posted On

2015-07-21