Mutagenetix > Incidental Mutation

Incidental Mutation 'R4381:Nacad'

325339

Institutional Source

Beutler Lab

Gene Symbol

Nacad

Ensembl Gene

ENSMUSG00000041073

Gene Name

NAC alpha domain containing

Synonyms

mKIAA0363

MMRRC Submission

041122-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4381 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

6547823-6556053 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 6550204 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Serine at position 996 (T996S)

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

probably benign
Transcript: ENSMUST00000045713
AA Change: T996S

PolyPhen 2 Score 0.178 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000049490
Gene: ENSMUSG00000041073
AA Change: T996S

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

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.9%
20x: 94.1%

Validation Efficiency

95% (41/43)

Allele List at MGI

Other mutations in this stock

Total: 33 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Alpk1	C	T	3: 127,523,022 (GRCm39)	V7M	probably damaging	Het
Dlgap2	A	G	8: 14,896,502 (GRCm39)	I993V	probably benign	Het
Dst	T	C	1: 34,202,316 (GRCm39)	S215P	probably damaging	Het
Eml5	A	G	12: 98,782,214 (GRCm39)	I1359T	possibly damaging	Het
Eps15	G	A	4: 109,223,727 (GRCm39)		probably benign	Het
Gpr158	T	A	2: 21,832,403 (GRCm39)	W1168R	probably damaging	Het
Ighv1-62-1	T	A	12: 115,350,613 (GRCm39)	H18L	probably benign	Het
Il18r1	A	G	1: 40,510,950 (GRCm39)	I12V	probably benign	Het
Klk14	G	A	7: 43,341,501 (GRCm39)	C51Y	probably damaging	Het
Mib2	G	C	4: 155,742,069 (GRCm39)	A234G	possibly damaging	Het
Mtpap	T	C	18: 4,383,223 (GRCm39)	F200S	probably benign	Het
Nek9	T	A	12: 85,376,632 (GRCm39)	T250S	probably damaging	Het
Nif3l1	A	C	1: 58,494,738 (GRCm39)		probably benign	Het
Nipbl	A	G	15: 8,388,690 (GRCm39)	V310A	probably benign	Het
Or10al3	G	T	17: 38,011,790 (GRCm39)	E76D	probably damaging	Het
Or7g34	A	G	9: 19,478,038 (GRCm39)	L211P	probably benign	Het
Pbrm1	T	C	14: 30,747,513 (GRCm39)	V33A	probably benign	Het
Pcdha4	A	G	18: 37,085,928 (GRCm39)	E37G	probably damaging	Het
Pdgfc	A	G	3: 81,116,558 (GRCm39)	K304R	probably damaging	Het
Peak1	G	T	9: 56,165,711 (GRCm39)	A739E	probably benign	Het
Pla2g4c	A	T	7: 13,079,990 (GRCm39)	N433Y	probably damaging	Het
Polrmt	A	C	10: 79,577,642 (GRCm39)	L319R	possibly damaging	Het
Prkaa1	A	T	15: 5,206,289 (GRCm39)	T373S	probably benign	Het
Qars1	G	A	9: 108,387,382 (GRCm39)		probably benign	Het
Ranbp1	G	A	16: 18,065,208 (GRCm39)	L33F	probably damaging	Het
Rpgrip1	C	T	14: 52,387,906 (GRCm39)	P1094L	possibly damaging	Het
Taf1d	T	A	9: 15,223,277 (GRCm39)		probably benign	Het
Tstd2	T	C	4: 46,119,933 (GRCm39)	K340E	probably benign	Het
Vmn2r45	A	T	7: 8,474,912 (GRCm39)	C705*	probably null	Het
Vrk3	C	T	7: 44,424,866 (GRCm39)	T427M	probably benign	Het
Zdhhc16	A	G	19: 41,929,093 (GRCm39)	Y232C	possibly damaging	Het
Zfp1	T	A	8: 112,397,083 (GRCm39)	L354Q	probably damaging	Het
Zyg11a	G	A	4: 108,058,517 (GRCm39)	A341V	possibly damaging	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
R4539:Nacad	UTSW	11	6,550,677 (GRCm39)	missense	possibly damaging	0.94
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'- GCTTGTACAGATACAGCCACAG -3'
(R):5'- CCCAACAGAATGGCTCAGAG -3'

Sequencing Primer
(F):5'- AGGTGTCCTCGTTGCTTCTCAG -3'
(R):5'- GCTCAGAGCCAGGTTACAAG -3'

Posted On

2015-07-06