Mutagenetix > Incidental Mutation

Incidental Mutation 'R6931:Nacad'

540039

Institutional Source

Beutler Lab

Gene Symbol

Nacad

Ensembl Gene

ENSMUSG00000041073

Gene Name

NAC alpha domain containing

Synonyms

mKIAA0363

MMRRC Submission

045326-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6931 (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 6601877 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Serine at position 438 (F438S)

Ref Sequence

ENSEMBL: ENSMUSP00000049490 (fasta)

Gene Model

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

AlphaFold

Q5SWP3

Predicted Effect

probably benign
Transcript: ENSMUST00000045713
AA Change: F438S

PolyPhen 2 Score 0.136 (Sensitivity: 0.92; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000049490
Gene: ENSMUSG00000041073
AA Change: F438S

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: 99.4%
20x: 98.0%

Validation Efficiency

99% (77/78)

Allele List at MGI

Other mutations in this stock

Total: 79 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700123L14Rik	T	C	6: 96,165,548	T172A	possibly damaging	Het
2310003L06Rik	T	A	5: 87,970,702	I15N	probably damaging	Het
2900092C05Rik	T	A	7: 12,512,596	S6R	unknown	Het
Abca6	T	A	11: 110,244,328	L210F	probably benign	Het
Abcc4	T	C	14: 118,527,988	Q919R	probably damaging	Het
Adcy1	A	G	11: 7,150,884	D811G	possibly damaging	Het
Akna	A	G	4: 63,387,102	S476P	probably benign	Het
Ankrd49	T	C	9: 14,782,826	N15S	probably benign	Het
Apcdd1	A	G	18: 62,933,908	D31G	probably damaging	Het
Aplp1	G	T	7: 30,443,200	R106S	probably damaging	Het
Arhgap40	T	C	2: 158,531,218	L132S	probably benign	Het
Atp8b5	G	T	4: 43,364,108		probably null	Het
Axl	T	C	7: 25,761,433	D717G	probably damaging	Het
Bub1	T	A	2: 127,801,382	D1014V	probably damaging	Het
Cacna2d4	T	A	6: 119,282,234	V603E	possibly damaging	Het
Cnot11	G	C	1: 39,539,921	C289S	probably damaging	Het
Coasy	A	G	11: 101,083,581	H191R	probably benign	Het
Cyp11a1	A	T	9: 58,025,120	N341Y	possibly damaging	Het
Cyp1a2	T	C	9: 57,682,156	N125S	probably benign	Het
Cyp2j8	A	T	4: 96,444,781		probably null	Het
Dnah9	A	T	11: 66,117,626	I791K	possibly damaging	Het
Ecm2	A	T	13: 49,529,011	Q505H	probably benign	Het
Fam135a	T	A	1: 24,085,487	M1L	probably damaging	Het
Fam171a2	A	G	11: 102,438,434	S500P	possibly damaging	Het
Fat3	A	G	9: 15,959,942	S3718P	possibly damaging	Het
Frem1	G	A	4: 82,970,677	P1085S	probably damaging	Het
Gcfc2	A	G	6: 81,942,985	I390V	probably benign	Het
Gemin4	A	G	11: 76,210,956	L993P	probably damaging	Het
Ggnbp2	T	A	11: 84,833,167	D647V	probably damaging	Het
Gm7534	A	T	4: 134,193,153	M567K	probably benign	Het
Gpr84	A	C	15: 103,309,014	L212R	probably damaging	Het
Hnrnpu	T	C	1: 178,331,432		probably benign	Het
Hspg2	G	T	4: 137,540,720	C2116F	probably damaging	Het
Icam4	T	A	9: 21,030,451	V249E	probably damaging	Het
Itga1	T	C	13: 115,001,563	N429D	probably benign	Het
Kcns1	T	C	2: 164,164,838	T402A	probably damaging	Het
Ky	T	A	9: 102,537,627	V246E	probably damaging	Het
March1	A	G	8: 66,468,492	T529A	probably benign	Het
Med18	C	G	4: 132,459,883	V102L	probably damaging	Het
Mlst8	T	C	17: 24,477,275	D160G	probably damaging	Het
Mthfd1	T	C	12: 76,303,698	I470T	probably benign	Het
Muc1	C	T	3: 89,229,159		probably benign	Het
Mup8	G	A	4: 60,220,322	L137F	probably damaging	Het
Mybpc1	A	T	10: 88,542,330	L341*	probably null	Het
Necap2	C	A	4: 141,078,212		probably null	Het
Nifk	T	C	1: 118,332,348	L163S	possibly damaging	Het
Npsr1	A	G	9: 24,289,997	I73V	probably benign	Het
Olfr1179	G	A	2: 88,402,064	T290I	probably benign	Het
Olfr1186	T	A	2: 88,526,194	C204S	possibly damaging	Het
Olfr142	A	T	2: 90,252,777	C70*	probably null	Het
Olfr715	A	G	7: 107,128,901	L164P	probably damaging	Het
Oog3	C	T	4: 144,159,353	C225Y	probably benign	Het
Plagl2	C	A	2: 153,235,943	K39N	probably benign	Het
Plcg2	T	A	8: 117,557,319	D118E	probably benign	Het
Ppp4r3b	A	T	11: 29,211,786	K720I	possibly damaging	Het
Prmt3	A	T	7: 49,829,016	T442S	probably benign	Het
Prr14l	G	A	5: 32,830,691	H487Y	probably damaging	Het
Psmb3	G	A	11: 97,703,971	V63I	probably benign	Het
Psmc6	T	A	14: 45,343,725	I326K	possibly damaging	Het
Ptcd1	T	C	5: 145,155,075	T405A	probably benign	Het
Rbm33	G	A	5: 28,410,745	V29M	probably damaging	Het
Rsrc1	C	T	3: 66,994,649	P44L	unknown	Het
Scarb1	T	A	5: 125,284,719	I107F	probably damaging	Het
Slc39a12	A	G	2: 14,389,375	S19G	probably benign	Het
Slc44a5	T	C	3: 154,258,506	V503A	probably benign	Het
Slc9a9	T	C	9: 94,670,086	S9P	possibly damaging	Het
Snrnp35	A	C	5: 124,490,701	R192S	possibly damaging	Het
Tbx15	T	C	3: 99,352,151	L446P	probably damaging	Het
Tlnrd1	A	G	7: 83,882,597	F209L	probably benign	Het
Tmprss12	C	T	15: 100,285,268	R164C	probably damaging	Het
Tnfsf4	T	A	1: 161,417,073	F111Y	possibly damaging	Het
Trib2	A	T	12: 15,793,639	M198K	probably benign	Het
Ttll8	A	G	15: 88,914,304	S743P	possibly damaging	Het
Ush2a	A	T	1: 188,728,383	N2614Y	probably benign	Het
Usp6nl	G	A	2: 6,430,458	V343I	possibly damaging	Het
Vrtn	C	A	12: 84,650,242	Q589K	probably benign	Het
Zbed5	T	A	5: 129,903,329	Y706*	probably null	Het
Zc3h10	A	G	10: 128,544,684	V268A	probably damaging	Het
Zfp442	C	T	2: 150,410,940		probably null	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
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'- TCTGTATTCTGAGCACTGGGC -3'
(R):5'- TTTGACCCAAACTTCCTGGC -3'

Sequencing Primer
(F):5'- CACTGGGCTGGGCATGG -3'
(R):5'- TGGCCAACGACCCGATGATC -3'

Posted On

2018-11-06