Mutagenetix > Incidental Mutation

Incidental Mutation 'R7841:Nacad'

606317

Institutional Source

Beutler Lab

Gene Symbol

Nacad

Ensembl Gene

ENSMUSG00000041073

Gene Name

NAC alpha domain containing

Synonyms

mKIAA0363

MMRRC Submission

045895-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7841 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

6597823-6606053 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 6601031 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Glutamic Acid at position 720 (V720E)

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: V720E

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000049490
Gene: ENSMUSG00000041073
AA Change: V720E

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: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.0%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 76 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700016H13Rik	T	C	5: 103,654,940	K16R	possibly damaging	Het
2810408A11Rik	A	G	11: 69,899,286	F210L	probably benign	Het
A930017K11Rik	A	T	17: 25,948,484	Y26*	probably null	Het
Adam6a	G	T	12: 113,545,458	D484Y	probably damaging	Het
AU019823	A	C	9: 50,610,416	S68R	probably damaging	Het
B9d1	A	G	11: 61,506,366	Y29C	possibly damaging	Het
Cald1	T	C	6: 34,745,761	F115L	unknown	Het
Ccnd1	A	T	7: 144,937,981	M107K	probably damaging	Het
Ccnh	G	A	13: 85,189,593	A20T	probably benign	Het
Cep162	T	C	9: 87,244,316	D181G	probably benign	Het
Cep44	AACGC	A	8: 56,540,983		probably null	Het
Ces2b	A	G	8: 104,835,060	D262G	probably benign	Het
Cic	A	G	7: 25,285,767	Y1146C	probably damaging	Het
Cmtm1	G	A	8: 104,309,476	R174C	possibly damaging	Het
Cobl	G	T	11: 12,253,324	P1126H	probably damaging	Het
Col14a1	T	A	15: 55,382,480	M460K	unknown	Het
Cst11	G	A	2: 148,771,307	R33W	possibly damaging	Het
Cyp19a1	A	T	9: 54,171,805	V340E	probably benign	Het
Dbt	A	T	3: 116,546,097	Q378L	possibly damaging	Het
Dchs1	A	G	7: 105,762,973	V1312A	probably benign	Het
Eif3l	T	C	15: 79,089,579	M398T	probably benign	Het
Faxc	A	G	4: 21,958,584	H247R	probably benign	Het
Fbxl17	T	C	17: 63,487,825	R421G	probably damaging	Het
Fbxo3	T	A	2: 104,059,992	D450E	unknown	Het
Fmn1	T	C	2: 113,529,465		probably null	Het
Foxs1	T	A	2: 152,932,987	M49L	possibly damaging	Het
Gucy1a2	A	G	9: 3,634,766	E270G	probably benign	Het
Helz2	T	C	2: 181,232,902	D1933G	probably damaging	Het
Hspa4	G	A	11: 53,267,060	A572V	possibly damaging	Het
Ica1	T	A	6: 8,737,072	D174V	probably damaging	Het
Igfbp6	A	T	15: 102,147,917	Q137L	possibly damaging	Het
Il1r2	T	C	1: 40,105,468	L105P	probably damaging	Het
Iqca	A	T	1: 90,059,615	C72S		Het
Itgbl1	T	C	14: 123,972,233		probably null	Het
Ivl	T	A	3: 92,572,392	Q122L	possibly damaging	Het
Kdsr	T	C	1: 106,743,685	E198G	probably damaging	Het
Lama2	T	C	10: 27,155,533	T1510A	probably benign	Het
Lrrc37a	A	T	11: 103,501,105	Y1165N	probably benign	Het
Mycbp2	A	G	14: 103,146,831		probably null	Het
Myh3	A	G	11: 67,098,692	E1546G	probably damaging	Het
Napa	A	G	7: 16,115,634	D257G	possibly damaging	Het
Nif3l1	T	C	1: 58,447,883	V76A	probably damaging	Het
Nphp4	G	A	4: 152,496,683	S108N	probably benign	Het
Npr1	A	T	3: 90,454,868	L990H	probably damaging	Het
Nup205	A	G	6: 35,247,437	R322G	unknown	Het
Olfr1252	C	A	2: 89,721,965	A49S	probably benign	Het
Olfr668	T	A	7: 104,924,859	I302F	possibly damaging	Het
Olfr735	G	T	14: 50,345,828	Q174K	probably benign	Het
Olfr892-ps1	T	G	9: 38,190,481	M252R	unknown	Het
Olfr897-ps1	T	A	9: 38,309,521	V242E	unknown	Het
Ovch2	G	T	7: 107,794,091	Q192K	probably benign	Het
Pcca	T	A	14: 122,562,972	D91E	probably benign	Het
Pole2	T	C	12: 69,204,258	T444A	probably damaging	Het
Ppip5k1	T	C	2: 121,342,795	K466E	probably benign	Het
Ptgfrn	A	T	3: 101,060,810	I489N	probably damaging	Het
Rassf1	A	G	9: 107,561,545	*341W	probably null	Het
Ret	G	A	6: 118,155,360	P1040S	probably damaging	Het
Rictor	C	T	15: 6,772,154	S441L	probably benign	Het
Rsf1	A	AAGGCGACGG	7: 97,579,904		probably null	Het
Slc6a17	A	T	3: 107,476,898	Y377N	possibly damaging	Het
Snrnp200	C	A	2: 127,236,834	D1806E	probably benign	Het
Synj2	G	A	17: 6,044,144	R1215H	unknown	Het
Tbc1d5	TTGCTGCTGGTGTTGCTGCTGCTGCTGCTG	TTGCTGCTG	17: 50,799,922		probably benign	Het
Top2a	A	T	11: 99,022,350	D85E	probably damaging	Het
Tram1l1	A	T	3: 124,321,704	Q171L	probably damaging	Het
Tram1l1	G	T	3: 124,321,705	Q171H	probably damaging	Het
Tspyl4	A	G	10: 34,298,271	H253R	probably damaging	Het
Ttn	T	C	2: 76,832,146	I23V		Het
Ubr5	T	C	15: 37,980,906	N2376D		Het
Ugt2b37	T	C	5: 87,250,630	N316D	probably benign	Het
Usp31	A	T	7: 121,677,312	V334E	probably damaging	Het
Usp31	A	C	7: 121,648,456	S1255A	probably benign	Het
Vmn2r108	A	G	17: 20,470,043		probably null	Het
Vmn2r87	T	A	10: 130,497,226	T52S	probably benign	Het
Vrk2	C	A	11: 26,471,457	L500F	probably damaging	Het
Zan	T	A	5: 137,436,802	I2110F	unknown	Het

Other mutations in Nacad

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00597:Nacad	APN	11	6600921	missense	probably benign	0.24
IGL00903:Nacad	APN	11	6600632	missense	probably damaging	0.99
IGL01303:Nacad	APN	11	6598279	missense	possibly damaging	0.81
IGL01353:Nacad	APN	11	6600530	missense	possibly damaging	0.70
IGL01833:Nacad	APN	11	6605700	missense	unknown
IGL02267:Nacad	APN	11	6602649	missense	probably benign	0.14
IGL02531:Nacad	APN	11	6598580	missense	possibly damaging	0.90
IGL02994:Nacad	APN	11	6599528	missense	possibly damaging	0.83
IGL03121:Nacad	APN	11	6600933	missense	probably damaging	0.98
IGL03161:Nacad	APN	11	6600378	nonsense	probably null
Locusta	UTSW	11	6602387	missense	possibly damaging	0.88
migratoria	UTSW	11	6601196	missense	probably benign	0.30
FR4340:Nacad	UTSW	11	6599761	small insertion	probably benign
FR4342:Nacad	UTSW	11	6599762	small insertion	probably benign
FR4548:Nacad	UTSW	11	6599752	small insertion	probably benign
FR4548:Nacad	UTSW	11	6599760	small insertion	probably benign
FR4589:Nacad	UTSW	11	6599753	small insertion	probably benign
FR4976:Nacad	UTSW	11	6599749	small insertion	probably benign
FR4976:Nacad	UTSW	11	6599756	small insertion	probably benign
FR4976:Nacad	UTSW	11	6599763	small insertion	probably benign
PIT4402001:Nacad	UTSW	11	6598621	missense	probably benign	0.19
R0330:Nacad	UTSW	11	6600903	missense	probably benign
R0331:Nacad	UTSW	11	6599441	missense	possibly damaging	0.84
R0409:Nacad	UTSW	11	6599810	missense	probably benign	0.00
R0612:Nacad	UTSW	11	6601382	missense	possibly damaging	0.90
R0644:Nacad	UTSW	11	6599486	missense	possibly damaging	0.69
R0829:Nacad	UTSW	11	6601158	missense	probably benign	0.18
R1483:Nacad	UTSW	11	6602217	missense	probably damaging	0.99
R1583:Nacad	UTSW	11	6601185	missense	probably benign	0.08
R1905:Nacad	UTSW	11	6602540	missense	probably benign	0.15
R1907:Nacad	UTSW	11	6602540	missense	probably benign	0.15
R2361:Nacad	UTSW	11	6600821	missense	probably benign
R2979:Nacad	UTSW	11	6601424	missense	probably benign	0.06
R4192:Nacad	UTSW	11	6605534	missense	probably benign	0.44
R4381:Nacad	UTSW	11	6600204	missense	probably benign	0.18
R4539:Nacad	UTSW	11	6600677	missense	possibly damaging	0.94
R4751:Nacad	UTSW	11	6605726	missense	unknown
R4944:Nacad	UTSW	11	6598507	missense	possibly damaging	0.95
R4962:Nacad	UTSW	11	6599169	missense	probably damaging	1.00
R5102:Nacad	UTSW	11	6598528	missense	probably damaging	1.00
R5189:Nacad	UTSW	11	6601611	missense	probably damaging	0.98
R5296:Nacad	UTSW	11	6605745	missense	unknown
R5566:Nacad	UTSW	11	6602136	missense	probably damaging	1.00
R5634:Nacad	UTSW	11	6602387	missense	possibly damaging	0.88
R5725:Nacad	UTSW	11	6601643	missense	probably benign	0.15
R5748:Nacad	UTSW	11	6598370	nonsense	probably null
R5864:Nacad	UTSW	11	6600581	missense	probably benign
R5882:Nacad	UTSW	11	6598568	missense	possibly damaging	0.95
R6089:Nacad	UTSW	11	6601331	missense	probably benign	0.03
R6117:Nacad	UTSW	11	6599810	missense	probably benign	0.00
R6161:Nacad	UTSW	11	6600902	missense	probably benign
R6351:Nacad	UTSW	11	6599235	missense	probably damaging	1.00
R6351:Nacad	UTSW	11	6600165	nonsense	probably null
R6366:Nacad	UTSW	11	6601196	missense	probably benign	0.30
R6525:Nacad	UTSW	11	6602255	missense	probably damaging	1.00
R6811:Nacad	UTSW	11	6599400	missense	possibly damaging	0.66
R6931:Nacad	UTSW	11	6601877	missense	probably benign	0.14
R6966:Nacad	UTSW	11	6602634	missense	possibly damaging	0.93
R7228:Nacad	UTSW	11	6598412	missense	probably benign	0.19
R7248:Nacad	UTSW	11	6598589	nonsense	probably null
R7556:Nacad	UTSW	11	6601272	missense	possibly damaging	0.90
R7594:Nacad	UTSW	11	6602457	missense	probably damaging	0.99
R7813:Nacad	UTSW	11	6599071	missense	probably benign	0.38
R8243:Nacad	UTSW	11	6602643	missense	probably damaging	0.96
R8810:Nacad	UTSW	11	6602853	missense	probably benign	0.15
R9042:Nacad	UTSW	11	6598948	missense	possibly damaging	0.95
R9057:Nacad	UTSW	11	6600876	missense	possibly damaging	0.53
R9114:Nacad	UTSW	11	6602252	missense	probably damaging	1.00
R9328:Nacad	UTSW	11	6602417	missense	possibly damaging	0.84
R9394:Nacad	UTSW	11	6599390	missense	probably damaging	1.00
R9595:Nacad	UTSW	11	6601790	missense	probably damaging	0.99
R9755:Nacad	UTSW	11	6599374	critical splice donor site	probably null
R9760:Nacad	UTSW	11	6601662	missense	probably benign	0.02
T0975:Nacad	UTSW	11	6599750	small insertion	probably benign
T0975:Nacad	UTSW	11	6601622	missense	probably benign	0.03
T0975:Nacad	UTSW	11	6601632	missense	probably benign	0.17
X0011:Nacad	UTSW	11	6601074	missense	probably benign	0.00
Z1176:Nacad	UTSW	11	6602297	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AGATGATGCTGTAGGAGACTCC -3'
(R):5'- GAGGTGTCACAATACCGCAG -3'

Sequencing Primer
(F):5'- ACTCCTGGGGTACTGTGACAATC -3'
(R):5'- GCAGGACCCCCTTATGACATTG -3'

Posted On

2019-12-20