Mutagenetix > Incidental Mutation

Incidental Mutation 'R0409:Nacad'

36530

Institutional Source

Beutler Lab

Gene Symbol

Nacad

Ensembl Gene

ENSMUSG00000041073

Gene Name

NAC alpha domain containing

Synonyms

mKIAA0363

MMRRC Submission

038611-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0409 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

6547823-6556053 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 6549810 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 1127 (D1127G)

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: D1127G

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000049490
Gene: ENSMUSG00000041073
AA Change: D1127G

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

unknown
Transcript: ENSMUST00000177391
AA Change: D43G

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.3%
3x: 98.6%
10x: 96.9%
20x: 94.8%

Validation Efficiency

100% (55/55)

Allele List at MGI

Other mutations in this stock

Total: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700113H08Rik	G	T	10: 87,061,816 (GRCm39)	A89S	probably damaging	Het
Alkbh3	T	A	2: 93,831,793 (GRCm39)	I146F	possibly damaging	Het
Aox1	A	T	1: 58,375,783 (GRCm39)	I871F	possibly damaging	Het
Birc2	A	C	9: 7,819,385 (GRCm39)	V509G	possibly damaging	Het
Car7	G	A	8: 105,275,056 (GRCm39)	A165T	probably damaging	Het
Ccdc81	A	G	7: 89,535,423 (GRCm39)	V271A	probably benign	Het
Cdc40	G	T	10: 40,723,164 (GRCm39)	H302N	probably damaging	Het
Cep104	C	T	4: 154,067,510 (GRCm39)		probably benign	Het
Cfap54	C	A	10: 92,612,075 (GRCm39)	S3161I	probably benign	Het
Chil5	A	G	3: 105,942,282 (GRCm39)		probably benign	Het
Chil6	C	T	3: 106,311,492 (GRCm39)	G96D	probably benign	Het
Cnot1	T	C	8: 96,475,483 (GRCm39)	K531E	probably damaging	Het
Colgalt2	G	T	1: 152,384,312 (GRCm39)	A551S	possibly damaging	Het
Disp3	T	G	4: 148,356,416 (GRCm39)	E148A	probably damaging	Het
Eps8l2	A	G	7: 140,922,893 (GRCm39)	Y52C	probably damaging	Het
Exph5	C	A	9: 53,285,643 (GRCm39)	T908K	probably benign	Het
Fat4	C	T	3: 39,031,562 (GRCm39)	S2449F	probably damaging	Het
Faxc	T	A	4: 21,948,751 (GRCm39)	N154K	probably benign	Het
Fbxo43	C	T	15: 36,162,503 (GRCm39)	A235T	probably benign	Het
Fnip1	A	G	11: 54,371,180 (GRCm39)		probably null	Het
Fsd1l	T	C	4: 53,679,932 (GRCm39)	L210P	probably benign	Het
Gm6420	A	C	1: 23,295,119 (GRCm39)	S123R	unknown	Het
Gm8801	T	G	17: 36,258,268 (GRCm39)		noncoding transcript	Het
Gmfb	T	C	14: 47,053,679 (GRCm39)	I36V	probably benign	Het
Gsap	G	A	5: 21,427,443 (GRCm39)		probably benign	Het
Hectd1	T	A	12: 51,829,339 (GRCm39)	I969L	possibly damaging	Het
Il21r	G	T	7: 125,229,012 (GRCm39)		probably benign	Het
Lrrc7	A	G	3: 157,867,063 (GRCm39)	F893L	possibly damaging	Het
Map2	A	G	1: 66,472,739 (GRCm39)	I1715V	probably damaging	Het
Mlh3	A	G	12: 85,287,628 (GRCm39)	I1339T	possibly damaging	Het
Noc3l	A	G	19: 38,806,371 (GRCm39)		probably benign	Het
Nup93	A	G	8: 95,030,293 (GRCm39)	D384G	probably damaging	Het
Or5m9b	T	A	2: 85,905,646 (GRCm39)	C187*	probably null	Het
Or5p54	T	C	7: 107,554,433 (GRCm39)	I195T	probably benign	Het
Or8b40	C	T	9: 38,027,547 (GRCm39)	L152F	probably benign	Het
Pls1	A	T	9: 95,668,972 (GRCm39)		probably benign	Het
Prkcb	A	T	7: 122,024,200 (GRCm39)	H75L	probably damaging	Het
Rev1	A	T	1: 38,113,449 (GRCm39)	Y539*	probably null	Het
Rnf10	A	T	5: 115,393,506 (GRCm39)		probably benign	Het
Rnpepl1	A	G	1: 92,843,582 (GRCm39)	Y234C	probably damaging	Het
Sdk2	T	C	11: 113,741,717 (GRCm39)		probably benign	Het
Sec23b	T	A	2: 144,409,832 (GRCm39)	M240K	probably benign	Het
Sema5a	A	T	15: 32,681,755 (GRCm39)	N945Y	probably damaging	Het
Snapc4	C	A	2: 26,257,228 (GRCm39)	R799L	probably benign	Het
Spata31g1	A	C	4: 42,972,203 (GRCm39)	K512T	probably damaging	Het
Tctn3	T	C	19: 40,599,860 (GRCm39)		probably benign	Het
Tex56	A	T	13: 35,108,532 (GRCm39)	I5L	probably benign	Het
Tfpt	G	A	7: 3,623,898 (GRCm39)	Q50*	probably null	Het
Trim80	T	C	11: 115,332,039 (GRCm39)	V77A	probably damaging	Het
Trp73	T	A	4: 154,148,841 (GRCm39)	D256V	possibly damaging	Het
Utrn	G	T	10: 12,519,345 (GRCm39)	N2202K	probably benign	Het
Vps13c	T	A	9: 67,858,926 (GRCm39)	F2792Y	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
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
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'- GCTTGAGATGATGCAAGCCAGGTC -3'
(R):5'- GTGGTAGAGGCACCAAATCACCAG -3'

Sequencing Primer
(F):5'- TGAGAGGCTGACACGCTG -3'
(R):5'- TGTACAAGCCAGGCTAGGTTC -3'

Posted On

2013-05-09