Mutagenetix > Incidental Mutation

Incidental Mutation 'R7594:Nacad'

587636

Institutional Source

Beutler Lab

Gene Symbol

Nacad

Ensembl Gene

ENSMUSG00000041073

Gene Name

NAC alpha domain containing

Synonyms

mKIAA0363

MMRRC Submission

045670-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7594 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

6597823-6606053 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 6602457 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 245 (S245P)

Ref Sequence

ENSEMBL: ENSMUSP00000049490 (fasta)

Gene Model

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

AlphaFold

Q5SWP3

Predicted Effect

probably damaging
Transcript: ENSMUST00000045713
AA Change: S245P

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000049490
Gene: ENSMUSG00000041073
AA Change: S245P

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: ENSMUST00000177050

Predicted Effect

probably benign
Transcript: ENSMUST00000177391

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.9%

Validation Efficiency

98% (62/63)

Allele List at MGI

Other mutations in this stock

Total: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930516K23Rik	T	C	7: 104,059,263	E113G	probably damaging	Het
9530053A07Rik	T	C	7: 28,131,460	C33R	probably damaging	Het
Acsm3	A	G	7: 119,784,990		probably null	Het
Acvr2a	T	A	2: 48,894,737	L345*	probably null	Het
App	T	C	16: 85,080,002	D167G	unknown	Het
Arhgef33	A	G	17: 80,370,305	D427G	probably damaging	Het
Arid2	T	C	15: 96,390,994	S1675P	probably damaging	Het
Atp8a1	T	C	5: 67,651,592	Y985C		Het
AW209491	A	G	13: 14,637,246	D228G	probably benign	Het
Casc3	G	A	11: 98,821,485	A117T	probably benign	Het
Cass4	C	T	2: 172,429,648	P645S	probably benign	Het
Ccar2	A	T	14: 70,141,794	Y553*	probably null	Het
Cox16	A	T	12: 81,474,578		probably null	Het
Cpeb3	A	T	19: 37,174,151	V275E	possibly damaging	Het
Dido1	A	G	2: 180,675,112	V634A	probably benign	Het
Dnajb1	G	A	8: 83,609,844	S81N	probably benign	Het
Dst	A	G	1: 34,213,013	K2262E	probably damaging	Het
Eya3	T	C	4: 132,694,825	V237A	probably benign	Het
Fbxo31	T	A	8: 121,552,368	D460V	probably damaging	Het
Gabrg3	A	T	7: 56,982,695	N168K	possibly damaging	Het
Ggh	C	G	4: 20,049,833	S88C	probably damaging	Het
Gm10134	T	C	2: 28,506,360	M89T	unknown	Het
Gm13084	A	T	4: 143,812,716	I69N	probably damaging	Het
Kif17	T	C	4: 138,277,925	L267P	probably damaging	Het
Ksr2	C	A	5: 117,555,066	T193N	possibly damaging	Het
Lmtk2	T	C	5: 144,173,746	L428P	probably damaging	Het
Mdn1	G	T	4: 32,696,359	L1247F	probably benign	Het
Med24	T	C	11: 98,715,097	Y323C	probably damaging	Het
Mthfd2	A	G	6: 83,306,683	V339A	probably benign	Het
Mtus2	G	T	5: 148,077,406	R336S	probably benign	Het
Muc16	T	C	9: 18,645,062	T3312A	unknown	Het
Nacc1	T	C	8: 84,675,002	D394G	probably damaging	Het
Nfatc2	A	G	2: 168,523,348	V582A	probably damaging	Het
Nid2	T	A	14: 19,768,723	D428E	probably benign	Het
Olfr1122	A	G	2: 87,388,269	H188R	probably damaging	Het
Olfr1253	T	A	2: 89,752,562	T89S	probably benign	Het
Olfr684	A	G	7: 105,157,673	L3S	probably benign	Het
Osbpl5	A	T	7: 143,693,797	L768Q	probably benign	Het
Plch2	C	T	4: 155,007,027	V210I	probably damaging	Het
Plekhh1	C	T	12: 79,076,503	T1153I	possibly damaging	Het
Ppp1r14c	T	C	10: 3,366,670	S2P	possibly damaging	Het
Psmd5	G	T	2: 34,860,729	H239Q	probably benign	Het
Ptcd2	C	A	13: 99,320,282	A345S	possibly damaging	Het
Sap30l	G	A	11: 57,810,121		probably null	Het
Sec14l2	A	G	11: 4,111,213	Y83H	probably damaging	Het
Slc2a9	A	G	5: 38,351,291	I470T	probably benign	Het
Sp110	G	A	1: 85,579,092	R417C	probably benign	Het
Syne1	A	G	10: 5,215,190		probably null	Het
Tg	T	A	15: 66,729,583	D1766E	probably benign	Het
Tlr12	T	C	4: 128,617,680	E259G	probably benign	Het
Tlr6	T	C	5: 64,953,251	Y771C	probably damaging	Het
Tnrc6b	T	A	15: 80,880,307	V670E	possibly damaging	Het
Top2b	A	G	14: 16,428,587	T1522A	probably benign	Het
Tpcn1	A	G	5: 120,556,530	M158T	possibly damaging	Het
Ttn	T	C	2: 76,726,842	I29940V	probably benign	Het
Ttn	G	A	2: 76,751,354	T23065I	probably damaging	Het
Umodl1	A	G	17: 30,954,805	S20G	probably benign	Het
Uts2r	G	T	11: 121,161,365	V352F	possibly damaging	Het
Vmn1r67	T	A	7: 10,447,415	M202K	possibly damaging	Het
Vmn2r107	T	C	17: 20,360,373	V524A	probably benign	Het
Zc3h12d	C	A	10: 7,862,618	D229E	probably damaging	Het
Zfp541	A	G	7: 16,076,386	D116G	probably damaging	Het
Zfp971	A	G	2: 178,034,000	E464G	possibly damaging	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
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'- TAGGTCATCTGCCACTGACC -3'
(R):5'- TCACGTTCCTGTCCAGCAAG -3'

Sequencing Primer
(F):5'- ATCTGCCACTGACCCTGATGG -3'
(R):5'- TTCCTGTCCAGCAAGCCAGG -3'

Posted On

2019-10-24