Mutagenetix > Incidental Mutation

Incidental Mutation 'R0829:Nacad'

78432

Institutional Source

Beutler Lab

Gene Symbol

Nacad

Ensembl Gene

ENSMUSG00000041073

Gene Name

NAC alpha domain containing

Synonyms

mKIAA0363

MMRRC Submission

039009-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0829 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

6547823-6556053 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 6551158 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Leucine at position 678 (V678L)

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: V678L

PolyPhen 2 Score 0.178 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000049490
Gene: ENSMUSG00000041073
AA Change: V678L

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

Meta Mutation Damage Score

0.0845

Coding Region Coverage

1x: 99.4%
3x: 98.8%
10x: 97.4%
20x: 94.7%

Validation Efficiency

95% (37/39)

Allele List at MGI

Other mutations in this stock

Total: 38 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adprh	C	A	16: 38,266,150 (GRCm39)	A331S	probably benign	Het
Atp4b	T	G	8: 13,440,098 (GRCm39)	T83P	probably damaging	Het
Ccdc177	T	C	12: 80,806,253 (GRCm39)	E7G	probably damaging	Het
Cercam	G	T	2: 29,761,079 (GRCm39)	R126L	probably damaging	Het
Cpb1	C	T	3: 20,306,107 (GRCm39)		probably benign	Het
Dnah7a	T	C	1: 53,543,238 (GRCm39)	M2311V	probably benign	Het
Dnah9	C	A	11: 65,896,002 (GRCm39)	V2458L	probably benign	Het
Dnajb6	T	C	5: 29,990,020 (GRCm39)		probably benign	Het
Dst	A	G	1: 34,202,301 (GRCm39)	T210A	probably damaging	Het
Gfpt1	T	C	6: 87,030,847 (GRCm39)		probably benign	Het
Grin1	C	T	2: 25,188,460 (GRCm39)	D429N	probably benign	Het
Iqck	T	C	7: 118,499,111 (GRCm39)		probably null	Het
Itgb5	A	G	16: 33,764,571 (GRCm39)	I359V	probably benign	Het
Lemd3	T	C	10: 120,814,988 (GRCm39)	T82A	probably benign	Het
Lrrc74b	A	G	16: 17,376,254 (GRCm39)		probably benign	Het
Mitf	A	T	6: 97,980,869 (GRCm39)	I246F	possibly damaging	Het
Msgn1	C	T	12: 11,258,525 (GRCm39)	R142Q	probably damaging	Het
Myh8	C	A	11: 67,174,326 (GRCm39)		probably benign	Het
Nomo1	A	G	7: 45,725,596 (GRCm39)		probably benign	Het
Ofcc1	C	T	13: 40,362,305 (GRCm39)	G206R	probably benign	Het
Or1s2	T	A	19: 13,758,556 (GRCm39)	D191E	probably damaging	Het
Or4c100	A	T	2: 88,356,572 (GRCm39)	Y215F	probably damaging	Het
Or4l15	C	A	14: 50,198,503 (GRCm39)	V9L	probably benign	Het
Or6d13	A	G	6: 116,518,226 (GRCm39)	T271A	probably benign	Het
Pcdh15	T	A	10: 74,338,598 (GRCm39)	V1068E	probably damaging	Het
Plat	A	G	8: 23,262,273 (GRCm39)	Y99C	probably damaging	Het
Potefam1	G	A	2: 111,028,450 (GRCm39)	T42I	possibly damaging	Het
Rasl10b	G	A	11: 83,308,665 (GRCm39)		probably null	Het
Rbm25	T	C	12: 83,707,150 (GRCm39)		probably benign	Het
Scaf11	T	C	15: 96,316,570 (GRCm39)	D998G	probably damaging	Het
Serpinb6a	A	G	13: 34,119,684 (GRCm39)		probably benign	Het
Spef2	T	C	15: 9,687,899 (GRCm39)	I507M	probably benign	Het
Srebf2	T	A	15: 82,061,790 (GRCm39)		probably null	Het
Stimate	C	T	14: 30,584,842 (GRCm39)	R56C	probably damaging	Het
Tert	T	C	13: 73,792,504 (GRCm39)	C924R	probably damaging	Het
Usp19	T	C	9: 108,371,000 (GRCm39)	S221P	probably benign	Het
Xkr4	C	T	1: 3,741,469 (GRCm39)	A35T	possibly damaging	Het
Zbtb14	C	A	17: 69,695,497 (GRCm39)	F398L	probably damaging	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
R0409:Nacad	UTSW	11	6,549,810 (GRCm39)	missense	probably benign	0.00
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
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'- TGAAGGTGATGCTACTGGGGCAAC -3'
(R):5'- AGCTTGTGTCCAGTCCTTCCTGAG -3'

Sequencing Primer
(F):5'- GGTGACCACAACTTCAGGTTC -3'
(R):5'- TTCCTGAGAAGAAGGAAGAAGGC -3'

Posted On

2013-10-16