Mutagenetix > Incidental Mutation

Incidental Mutation 'FR4589:Nacad'

511380

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 #

FR4589 ()

Quality Score

217.468

Status

Not validated

Chromosome

Chromosomal Location

6597823-6606053 bp(-) (GRCm38)

Type of Mutation

small insertion (2 aa in frame mutation)

DNA Base Change (assembly)

GGGTCA to GGGTCATGGTCA at 6599753 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

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

SMART Domains

Protein: ENSMUSP00000049490
Gene: ENSMUSG00000041073

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: 99.8%
3x: 99.5%
10x: 98.4%
20x: 96.1%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 126 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930402H24Rik	TCC	TCCCCC	2: 130,770,745		probably benign	Het
4930402H24Rik	CC	CCTGC	2: 130,770,752		probably benign	Het
4930548H24Rik	GAGAAG	GAG	5: 31,487,373		probably benign	Het
7530416G11Rik	T	A	15: 85,494,307	E45V	unknown	Homo
A530064D06Rik	GTAGGAAGCTTAG	GTAG	17: 48,163,381		probably benign	Homo
Anxa2	C	CCCA	9: 69,480,210		probably benign	Het
Apol6	GTTT	GTTTTTTT	15: 77,051,438		probably null	Het
Arrb2	C	T	11: 70,438,671	T269M	probably damaging	Homo
AY761185	CACTGTGGG	C	8: 20,943,903		probably null	Het
BC051142	GCA	GCACCA	17: 34,460,053		probably benign	Het
BC051142	AGC	AGCCGC	17: 34,460,073		probably benign	Het
Bcas3	G	A	11: 85,509,497	V431I	probably benign	Homo
Blm	TACC	TACCGACC	7: 80,463,770		probably null	Het
Btnl10	AGA	AGAGGA	11: 58,923,929		probably benign	Homo
Btnl4	T	A	17: 34,472,636	K293M	probably benign	Het
Catsper2	TGTC	TGTCGTC	2: 121,397,779		probably benign	Het
Cd109	ATTTAT	ATTTATTTATTTCTTTAT	9: 78,712,529		probably benign	Het
Cd164	G	T	10: 41,521,926	A59S	probably benign	Homo
Cd22	C	T	7: 30,878,082	R2H	possibly damaging	Homo
Chd4	C	T	6: 125,122,133	P1597L	probably benign	Homo
Chd4	CCCCTGCCCCTGCCACTGCCCCTGCC	CCCCTGCCCCTGCCCCTGCCACTGCCCCTGCC	6: 125,122,139		probably benign	Homo
Chga	AGC	AGCTGC	12: 102,561,402		probably benign	Het
Cluh	AGCC	AGCCTGGGCC	11: 74,669,531		probably benign	Het
Cnpy3	ACCC	ACCCCCC	17: 46,736,739		probably benign	Het
Cntnap1	CCCAGC	CCCAGCTCCAGC	11: 101,189,566		probably benign	Het
Cntnap1	AGCCCC	AGCCCCCGCCCC	11: 101,189,575		probably benign	Het
Cntnap1	CAGCCC	CAGCCCGAGCCC	11: 101,189,580		probably benign	Het
Cntnap1	AGCCCC	AGCCCCCGCCCC	11: 101,189,581		probably benign	Het
Col2a1	C	A	15: 97,988,981		probably null	Het
Col6a5	A	T	9: 105,934,174	N715K	unknown	Homo
Cttnbp2	ATT	ATTTCTGTT	6: 18,367,458		probably benign	Het
D230025D16Rik	G	A	8: 105,241,098	G207E	probably benign	Homo
Dbr1	AGGAGG	AGGAGGGGGAGG	9: 99,583,677		probably benign	Het
Dbr1	AGGAGG	AGGAGGGGGAGG	9: 99,583,680		probably benign	Het
Dbr1	AGGAGG	AGGAGGCGGAGG	9: 99,583,683		probably benign	Het
Dbr1	GGAGGA	GGAGGAAGAGGA	9: 99,583,696		probably benign	Het
Dclre1a	AGGCTTTG	AG	19: 56,544,123		probably benign	Het
Dcpp1	A	C	17: 23,881,454	K53Q	probably benign	Het
Dhx8	CGAGAC	CGAGACAGAGAC	11: 101,738,188		probably benign	Homo
Dnah12	G	T	14: 26,849,385	G2817V	probably damaging	Homo
Dthd1	C	CTT	5: 62,843,026		probably null	Homo
Efhd2	GCCGCC	GCCGCCTCCGCC	4: 141,874,764		probably benign	Het
Eps8	AC	ACTCGC	6: 137,517,069		probably null	Het
Ermn	TTC	TTCATC	2: 58,048,069		probably benign	Het
Fam81b	TC	TCTCC	13: 76,271,323		probably benign	Het
Fbrsl1	TG	TGCGTGTGCTGGCG	5: 110,378,150		probably benign	Het
Fbxo43	GCCTGT	GCCTGTTCCTGT	15: 36,152,100		probably benign	Het
Fbxo43	CCTGTG	CCTGTGTCTGTG	15: 36,152,101		probably benign	Het
Fmn1	CTCCTC	CTCCTCTTCCTC	2: 113,525,773		probably benign	Het
Fmn1	TCCTCC	TCCTCCCCCTCC	2: 113,525,774		probably benign	Het
Frmpd2	G	T	14: 33,511,021	L399F	probably damaging	Homo
Gabre	GCTCCGACTCCGACTCCG	GCTCCGACTCCGACTCCGACTCCG	X: 72,270,030		probably benign	Homo
Gabre	ACTCCGGCTCCGGCTCAGGCTCAGGCTCCGGCTCAGGCTCCGGCTCCGGCTCCGGCTC	ACTCCGGCTCCGGCTCCGGCTCAGGCTCAGGCTCCGGCTCAGGCTCCGGCTCCGGCTCCGGCTC	X: 72,270,042		probably benign	Homo
Gbp2b	A	G	3: 142,603,652	I175V	probably benign	Het
Gm10324	G	A	13: 66,122,208	S396N	probably benign	Het
Gm4340	CAG	CAGTAG	10: 104,196,078		probably null	Het
Gm4340	AGC	AGCCGC	10: 104,196,079		probably benign	Het
Gm4340	AG	AGCCG	10: 104,196,100		probably benign	Het
H2-Q4	G	A	17: 35,380,405	D155N	probably damaging	Het
Ighv5-9	C	T	12: 113,661,877	S82N	probably benign	Homo
Ipo9	CCATC	CCATCATC	1: 135,386,266		probably benign	Het
Ipo9	TCC	TCCCCC	1: 135,386,281		probably benign	Het
Isg20l2	GAAA	GAAAAAA	3: 87,931,717		probably benign	Homo
Klra9	C	G	6: 130,182,403	D216H	probably benign	Het
Kmt2b	TCC	TCCTCCGCC	7: 30,586,381		probably benign	Het
Kmt2b	CCTCCT	CCTCCTGCTCCT	7: 30,586,361		probably benign	Het
Kmt2b	CCTCCT	CCTCCTACTCCT	7: 30,586,364		probably null	Het
Krt10	TCC	TCCGCCGCC	11: 99,389,276		probably benign	Het
Las1l	TCTTCC	TCTTCCGCTTCC	X: 95,940,619		probably benign	Het
Las1l	TTCCTCCTCCTC	TTCCTC	X: 95,940,621		probably benign	Het
Las1l	TC	TCTTCCAC	X: 95,940,625		probably benign	Het
Lce1m	TGCTGCCACC	TGCTGCCACCACGGCTGCCACC	3: 93,018,268		probably benign	Homo
Lor	GCCGCCGCC	GC	3: 92,081,894		probably null	Het
Lrit3	AC	ACATCC	3: 129,803,913		probably null	Het
Lrrc63	CGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGG	CGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGG	14: 75,125,182		probably benign	Homo
Mapk7	GG	GGTGCTAG	11: 61,490,222		probably benign	Het
Med12l	GCAACA	GCAACAACA	3: 59,275,956		probably benign	Het
Ndufc2	G	C	7: 97,400,290	M34I	probably benign	Het
Nphp3	CACG	C	9: 104,025,939		probably benign	Het
Nrg3	AG	AGCCTTTG	14: 38,397,266		probably benign	Het
Pdik1l	TTTTTGTTTT	TTTTTGTTTTGATTTTGTTTT	4: 134,279,368		probably null	Homo
Pdik1l	TTTTGTTTT	TTTTGTTTTGTGTTTGTTTT	4: 134,279,369		probably null	Homo
Plekhs1	AC	ACCTCCCCCGAGGC	19: 56,479,863		probably benign	Het
Prag1	CCGC	CCGCCGC	8: 36,103,883		probably benign	Homo
Prtg	G	A	9: 72,856,865	R540Q	probably damaging	Het
Raet1d	T	TCCTCTCTGGTAG	10: 22,370,918		probably null	Homo
Rhbdf1	A	ATTTT	11: 32,214,391		probably benign	Het
Rps19	AAAATT	AAAATTGAAATT	7: 24,889,182		probably benign	Het
Rtbdn	GGCAGC	GGCAGCCGCAGC	8: 84,956,171		probably benign	Het
Scaf4	TGCGGC	TGC	16: 90,229,854		probably benign	Homo
Serac1	T	A	17: 6,070,808	K70N	probably damaging	Homo
Setd1a	CTGGTGGTGGTGGTGGTGGTAGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGG	CTGGTGGTGGTGGTGGTGGTGGTGGTGGTAGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGG	7: 127,785,297		probably benign	Het
Shf	TCT	TCTGCT	2: 122,354,177		probably benign	Homo
Shroom4	TGCAGCAGCAGCAGCAGCA	TGCAGCAGCAGCAGCA	X: 6,624,061		probably benign	Homo
Six3	CGG	CGGAGG	17: 85,621,365		probably benign	Het
Snx1	TCT	TCTCCT	9: 66,104,926		probably benign	Homo
Spag17	AGG	AGGGGG	3: 100,056,245		probably benign	Het
Spag17	GGA	GGATGA	3: 100,056,258		probably benign	Het
Speer4a	C	A	5: 26,036,748	E127*	probably null	Het
Sry	ACTG	ACTGCTG	Y: 2,662,818		probably benign	Het
Supt20	GCAGCA	GCAGCATCAGCA	3: 54,727,651		probably benign	Het
Supt20	CAGCAG	CAGCAGGAGCAG	3: 54,727,655		probably benign	Het
Supt20	A	AGCAGCT	3: 54,727,671		probably benign	Het
Tcof1	GGGTA	G	18: 60,828,650		probably benign	Homo
Tert	C	CAAGGGTGCG	13: 73,648,304		probably benign	Het
Tmbim7	C	T	5: 3,670,064	R100C	possibly damaging	Het
Tmed6	C	CTAGA	8: 107,061,598		probably null	Homo
Tob1	CA	CAGCAA	11: 94,214,477		probably null	Het
Tob1	CACA	CACAACA	11: 94,214,451		probably benign	Het
Trcg1	AGCTCCTGTGTCTGT	A	9: 57,242,202		probably null	Homo
Trim16	A	AAGC	11: 62,820,695		probably benign	Homo
Tubgcp4	GTGA	G	2: 121,175,463		probably benign	Het
Tusc1	ACCGCC	ACCGCCCCCGCC	4: 93,335,307		probably benign	Het
Ubtf	CTCTTC	CTCTTCTTC	11: 102,306,943		probably benign	Het
Ubtf	CTTC	CTTCTTC	11: 102,306,945		probably benign	Het
Vars	GTGG	GTGGAGTCCTGGTTGG	17: 35,015,988		probably benign	Homo
Vmn2r52	C	T	7: 10,159,020	E731K	probably damaging	Het
Vmn2r87	C	T	10: 130,478,714	M334I	probably benign	Homo
Zc3h13	CGGGATGTGCG	CGGGATGTGCGGGATGTGCG	14: 75,323,592		probably benign	Homo
Zc3h13	TGTGCGAG	TGTGCGAGGAGTGCGAG	14: 75,323,597		probably benign	Het
Zc3h13	GTGCGAGAT	GTGCGAGATTTGCGAGAT	14: 75,323,598		probably benign	Het
Zfhx3	CAGCA	CAGCAACAGAAGCA	8: 108,956,101		probably benign	Het
Zfp282	GGC	GGCAGC	6: 47,904,791		probably benign	Het
Zfp459	GA	GAGTTA	13: 67,408,275		probably null	Homo
Zfp598	ACCACC	ACCACCCCCACC	17: 24,680,779		probably benign	Het
Zfp831	TCC	TCCCCC	2: 174,645,468		probably benign	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
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
R7841:Nacad	UTSW	11	6601031	missense	probably benign	0.00
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'- GCAAGCCAGGTCTTTGGTATC -3'
(R):5'- GGTCTACGCTGAAGAGACTAGC -3'

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

Posted On

2018-04-05