Mutagenetix > Incidental Mutation

Incidental Mutation 'R4539:Nacad'

333460

Institutional Source

Beutler Lab

Gene Symbol

Nacad

Ensembl Gene

ENSMUSG00000041073

Gene Name

NAC alpha domain containing

Synonyms

mKIAA0363

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4539 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

6547823-6556053 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 6550677 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Glutamic Acid at position 838 (V838E)

Ref Sequence

ENSEMBL: ENSMUSP00000049490 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000000388] [ENSMUST00000045713] [ENSMUST00000109721] [ENSMUST00000109722]

AlphaFold

Q5SWP3

Predicted Effect

probably benign
Transcript: ENSMUST00000000388

SMART Domains

Protein: ENSMUSP00000000388
Gene: ENSMUSG00000000378

Domain	Start	End	E-Value	Type
low complexity region	2	12	N/A	INTRINSIC
Blast:PTB	60	230	2e-35	BLAST
low complexity region	242	252	N/A	INTRINSIC
Pfam:CCM2_C	296	396	8.9e-50	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000045713
AA Change: V838E

PolyPhen 2 Score 0.944 (Sensitivity: 0.80; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000049490
Gene: ENSMUSG00000041073
AA Change: V838E

Domain	Start	End	E-Value	Type
low complexity region	2	28	N/A	INTRINSIC
low complexity region	70	87	N/A	INTRINSIC
low complexity region	228	235	N/A	INTRINSIC
low complexity region	266	277	N/A	INTRINSIC
low complexity region	294	306	N/A	INTRINSIC
low complexity region	328	354	N/A	INTRINSIC
low complexity region	391	422	N/A	INTRINSIC
low complexity region	454	479	N/A	INTRINSIC
internal_repeat_1	537	689	6.19e-8	PROSPERO
low complexity region	692	713	N/A	INTRINSIC
internal_repeat_1	732	889	6.19e-8	PROSPERO
low complexity region	924	939	N/A	INTRINSIC
low complexity region	1159	1170	N/A	INTRINSIC
low complexity region	1308	1325	N/A	INTRINSIC
Pfam:NAC	1357	1413	2.9e-24	PFAM
low complexity region	1449	1466	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000109721

SMART Domains

Protein: ENSMUSP00000105343
Gene: ENSMUSG00000000378

Domain	Start	End	E-Value	Type
Blast:PTB	2	166	2e-32	BLAST
low complexity region	178	188	N/A	INTRINSIC
low complexity region	230	244	N/A	INTRINSIC
PDB:4FQN\|D	245	324	5e-52	PDB

Predicted Effect

probably benign
Transcript: ENSMUST00000109722

SMART Domains

Protein: ENSMUSP00000105344
Gene: ENSMUSG00000000378

Domain	Start	End	E-Value	Type
Blast:PTB	2	166	2e-32	BLAST
low complexity region	178	188	N/A	INTRINSIC
low complexity region	230	244	N/A	INTRINSIC
PDB:4FQN\|D	245	324	5e-52	PDB

Predicted Effect

probably benign
Transcript: ENSMUST00000177050

Predicted Effect

probably benign
Transcript: ENSMUST00000177391

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.5%
20x: 95.8%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 34 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb1a	A	G	5: 8,765,793 (GRCm39)	T702A	probably benign	Het
Alms1	C	T	6: 85,597,460 (GRCm39)	T762I	possibly damaging	Het
Arhgef18	T	C	8: 3,497,070 (GRCm39)	M465T	probably benign	Het
Bag4	C	T	8: 26,259,516 (GRCm39)	A228T	probably benign	Het
Camta1	T	C	4: 151,169,269 (GRCm39)	I161V	probably benign	Het
Cpeb4	G	A	11: 31,823,206 (GRCm39)	G307S	probably damaging	Het
Eps8l1	T	C	7: 4,481,623 (GRCm39)	V707A	probably damaging	Het
Espn	G	A	4: 152,218,665 (GRCm39)	Q473*	probably null	Het
Fut9	A	T	4: 25,619,793 (GRCm39)	H340Q	probably damaging	Het
Gm11554	A	T	11: 99,695,186 (GRCm39)		probably benign	Het
Hcar2	A	G	5: 124,002,793 (GRCm39)	F237L	probably damaging	Het
Hectd4	T	A	5: 121,452,970 (GRCm39)	C492*	probably null	Het
Lrrk2	C	T	15: 91,613,345 (GRCm39)	P823L	possibly damaging	Het
Luzp2	A	T	7: 54,713,037 (GRCm39)	Q91L	probably damaging	Het
Mapkapk5	T	A	5: 121,675,218 (GRCm39)	H117L	possibly damaging	Het
Myh14	A	G	7: 44,276,478 (GRCm39)	L1209P	probably damaging	Het
Myo3b	T	G	2: 69,869,491 (GRCm39)	M1R	probably null	Het
Neurl1a	T	A	19: 47,245,183 (GRCm39)	S458T	probably damaging	Het
Pdzrn4	A	G	15: 92,668,470 (GRCm39)	D874G	probably damaging	Het
Phykpl	A	G	11: 51,484,915 (GRCm39)	T292A	probably damaging	Het
Piezo2	A	G	18: 63,219,699 (GRCm39)	Y1003H	probably damaging	Het
Ppih	A	G	4: 119,177,656 (GRCm39)	S6P	probably benign	Het
Qrich1	A	G	9: 108,411,399 (GRCm39)	E308G	probably damaging	Het
Setx	A	G	2: 29,069,760 (GRCm39)	T2522A	probably benign	Het
Slc26a8	A	T	17: 28,878,591 (GRCm39)	M332K	probably benign	Het
Sost	G	A	11: 101,857,670 (GRCm39)	P44S	probably damaging	Het
Sphkap	A	G	1: 83,255,514 (GRCm39)	V745A	probably benign	Het
Swi5	T	C	2: 32,169,092 (GRCm39)	N118S	possibly damaging	Het
Tenm2	T	C	11: 35,937,607 (GRCm39)	T1689A	probably damaging	Het
Ttll9	C	T	2: 152,836,011 (GRCm39)	R252C	probably damaging	Het
Vars2	T	A	17: 35,977,780 (GRCm39)	E80V	probably damaging	Het
Zbtb39	G	A	10: 127,578,061 (GRCm39)	D212N	possibly damaging	Het
Zfp418	C	A	7: 7,184,276 (GRCm39)	Q80K	probably benign	Het
Zscan25	A	G	5: 145,225,201 (GRCm39)	D259G	probably benign	Het

Other mutations in Nacad

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00597:Nacad	APN	11	6,550,921 (GRCm39)	missense	probably benign	0.24
IGL00903:Nacad	APN	11	6,550,632 (GRCm39)	missense	probably damaging	0.99
IGL01303:Nacad	APN	11	6,548,279 (GRCm39)	missense	possibly damaging	0.81
IGL01353:Nacad	APN	11	6,550,530 (GRCm39)	missense	possibly damaging	0.70
IGL01833:Nacad	APN	11	6,555,700 (GRCm39)	missense	unknown
IGL02267:Nacad	APN	11	6,552,649 (GRCm39)	missense	probably benign	0.14
IGL02531:Nacad	APN	11	6,548,580 (GRCm39)	missense	possibly damaging	0.90
IGL02994:Nacad	APN	11	6,549,528 (GRCm39)	missense	possibly damaging	0.83
IGL03121:Nacad	APN	11	6,550,933 (GRCm39)	missense	probably damaging	0.98
IGL03161:Nacad	APN	11	6,550,378 (GRCm39)	nonsense	probably null
Locusta	UTSW	11	6,552,387 (GRCm39)	missense	possibly damaging	0.88
migratoria	UTSW	11	6,551,196 (GRCm39)	missense	probably benign	0.30
FR4340:Nacad	UTSW	11	6,549,761 (GRCm39)	small insertion	probably benign
FR4342:Nacad	UTSW	11	6,549,762 (GRCm39)	small insertion	probably benign
FR4548:Nacad	UTSW	11	6,549,760 (GRCm39)	small insertion	probably benign
FR4548:Nacad	UTSW	11	6,549,752 (GRCm39)	small insertion	probably benign
FR4589:Nacad	UTSW	11	6,549,753 (GRCm39)	small insertion	probably benign
FR4976:Nacad	UTSW	11	6,549,763 (GRCm39)	small insertion	probably benign
FR4976:Nacad	UTSW	11	6,549,756 (GRCm39)	small insertion	probably benign
FR4976:Nacad	UTSW	11	6,549,749 (GRCm39)	small insertion	probably benign
PIT4402001:Nacad	UTSW	11	6,548,621 (GRCm39)	missense	probably benign	0.19
R0330:Nacad	UTSW	11	6,550,903 (GRCm39)	missense	probably benign
R0331:Nacad	UTSW	11	6,549,441 (GRCm39)	missense	possibly damaging	0.84
R0409:Nacad	UTSW	11	6,549,810 (GRCm39)	missense	probably benign	0.00
R0612:Nacad	UTSW	11	6,551,382 (GRCm39)	missense	possibly damaging	0.90
R0644:Nacad	UTSW	11	6,549,486 (GRCm39)	missense	possibly damaging	0.69
R0829:Nacad	UTSW	11	6,551,158 (GRCm39)	missense	probably benign	0.18
R1483:Nacad	UTSW	11	6,552,217 (GRCm39)	missense	probably damaging	0.99
R1583:Nacad	UTSW	11	6,551,185 (GRCm39)	missense	probably benign	0.08
R1905:Nacad	UTSW	11	6,552,540 (GRCm39)	missense	probably benign	0.15
R1907:Nacad	UTSW	11	6,552,540 (GRCm39)	missense	probably benign	0.15
R2361:Nacad	UTSW	11	6,550,821 (GRCm39)	missense	probably benign
R2979:Nacad	UTSW	11	6,551,424 (GRCm39)	missense	probably benign	0.06
R4192:Nacad	UTSW	11	6,555,534 (GRCm39)	missense	probably benign	0.44
R4381:Nacad	UTSW	11	6,550,204 (GRCm39)	missense	probably benign	0.18
R4751:Nacad	UTSW	11	6,555,726 (GRCm39)	missense	unknown
R4944:Nacad	UTSW	11	6,548,507 (GRCm39)	missense	possibly damaging	0.95
R4962:Nacad	UTSW	11	6,549,169 (GRCm39)	missense	probably damaging	1.00
R5102:Nacad	UTSW	11	6,548,528 (GRCm39)	missense	probably damaging	1.00
R5189:Nacad	UTSW	11	6,551,611 (GRCm39)	missense	probably damaging	0.98
R5296:Nacad	UTSW	11	6,555,745 (GRCm39)	missense	unknown
R5566:Nacad	UTSW	11	6,552,136 (GRCm39)	missense	probably damaging	1.00
R5634:Nacad	UTSW	11	6,552,387 (GRCm39)	missense	possibly damaging	0.88
R5725:Nacad	UTSW	11	6,551,643 (GRCm39)	missense	probably benign	0.15
R5748:Nacad	UTSW	11	6,548,370 (GRCm39)	nonsense	probably null
R5864:Nacad	UTSW	11	6,550,581 (GRCm39)	missense	probably benign
R5882:Nacad	UTSW	11	6,548,568 (GRCm39)	missense	possibly damaging	0.95
R6089:Nacad	UTSW	11	6,551,331 (GRCm39)	missense	probably benign	0.03
R6117:Nacad	UTSW	11	6,549,810 (GRCm39)	missense	probably benign	0.00
R6161:Nacad	UTSW	11	6,550,902 (GRCm39)	missense	probably benign
R6351:Nacad	UTSW	11	6,550,165 (GRCm39)	nonsense	probably null
R6351:Nacad	UTSW	11	6,549,235 (GRCm39)	missense	probably damaging	1.00
R6366:Nacad	UTSW	11	6,551,196 (GRCm39)	missense	probably benign	0.30
R6525:Nacad	UTSW	11	6,552,255 (GRCm39)	missense	probably damaging	1.00
R6811:Nacad	UTSW	11	6,549,400 (GRCm39)	missense	possibly damaging	0.66
R6931:Nacad	UTSW	11	6,551,877 (GRCm39)	missense	probably benign	0.14
R6966:Nacad	UTSW	11	6,552,634 (GRCm39)	missense	possibly damaging	0.93
R7228:Nacad	UTSW	11	6,548,412 (GRCm39)	missense	probably benign	0.19
R7248:Nacad	UTSW	11	6,548,589 (GRCm39)	nonsense	probably null
R7556:Nacad	UTSW	11	6,551,272 (GRCm39)	missense	possibly damaging	0.90
R7594:Nacad	UTSW	11	6,552,457 (GRCm39)	missense	probably damaging	0.99
R7813:Nacad	UTSW	11	6,549,071 (GRCm39)	missense	probably benign	0.38
R7841:Nacad	UTSW	11	6,551,031 (GRCm39)	missense	probably benign	0.00
R8243:Nacad	UTSW	11	6,552,643 (GRCm39)	missense	probably damaging	0.96
R8810:Nacad	UTSW	11	6,552,853 (GRCm39)	missense	probably benign	0.15
R9042:Nacad	UTSW	11	6,548,948 (GRCm39)	missense	possibly damaging	0.95
R9057:Nacad	UTSW	11	6,550,876 (GRCm39)	missense	possibly damaging	0.53
R9114:Nacad	UTSW	11	6,552,252 (GRCm39)	missense	probably damaging	1.00
R9328:Nacad	UTSW	11	6,552,417 (GRCm39)	missense	possibly damaging	0.84
R9394:Nacad	UTSW	11	6,549,390 (GRCm39)	missense	probably damaging	1.00
R9595:Nacad	UTSW	11	6,551,790 (GRCm39)	missense	probably damaging	0.99
R9755:Nacad	UTSW	11	6,549,374 (GRCm39)	critical splice donor site	probably null
R9760:Nacad	UTSW	11	6,551,662 (GRCm39)	missense	probably benign	0.02
T0975:Nacad	UTSW	11	6,551,632 (GRCm39)	missense	probably benign	0.17
T0975:Nacad	UTSW	11	6,551,622 (GRCm39)	missense	probably benign	0.03
T0975:Nacad	UTSW	11	6,549,750 (GRCm39)	small insertion	probably benign
X0011:Nacad	UTSW	11	6,551,074 (GRCm39)	missense	probably benign	0.00
Z1176:Nacad	UTSW	11	6,552,297 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CCACACCCAATTCCTGATGG -3'
(R):5'- GAGTCTCCTACAGCATCATCTC -3'

Sequencing Primer
(F):5'- AATTCCTGATGGGCCTCAGAGAC -3'
(R):5'- AGTCTCCTACAGCATCATCTCTAACC -3'

Posted On

2015-08-18