Mutagenetix > Incidental Mutation

Incidental Mutation 'R8810:Nacad'

672363

Institutional Source

Beutler Lab

Gene Symbol

Nacad

Ensembl Gene

ENSMUSG00000041073

Gene Name

NAC alpha domain containing

Synonyms

mKIAA0363

MMRRC Submission

068725-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8810 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

6597823-6606053 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 6602853 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 113 (T113A)

Ref Sequence

ENSEMBL: ENSMUSP00000049490 (fasta)

Gene Model

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

AlphaFold

Q5SWP3

Predicted Effect

probably benign
Transcript: ENSMUST00000045713
AA Change: T113A

PolyPhen 2 Score 0.146 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000049490
Gene: ENSMUSG00000041073
AA Change: T113A

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: 100.0%
10x: 99.9%
20x: 99.6%

Validation Efficiency

99% (82/83)

Allele List at MGI

Other mutations in this stock

Total: 86 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acan	T	C	7: 79,099,704 (GRCm38)	S1408P	probably damaging	Het
Acap3	T	C	4: 155,905,712 (GRCm38)	V783A	probably damaging	Het
Akap8	T	C	17: 32,306,530 (GRCm38)	N525S	probably damaging	Het
Aqp1	C	T	6: 55,336,621 (GRCm38)	T44M	probably damaging	Het
Arap1	T	C	7: 101,404,378 (GRCm38)	Y1305H	probably damaging	Het
Atg2a	T	G	19: 6,250,621 (GRCm38)	S743A	probably benign	Het
AW551984	G	T	9: 39,600,011 (GRCm38)	L133I	probably damaging	Het
Bahcc1	C	A	11: 120,273,761 (GRCm38)	P802T	possibly damaging	Het
Brd8	C	A	18: 34,609,949 (GRCm38)	V288L	probably benign	Het
Carmil2	T	C	8: 105,686,315 (GRCm38)		probably null	Het
Catspere2	G	A	1: 178,077,482 (GRCm38)	E153K	possibly damaging	Het
Ccdc162	C	T	10: 41,666,741 (GRCm38)	R379Q	probably benign	Het
Cdh16	A	G	8: 104,614,504 (GRCm38)	L116P	probably damaging	Het
Cenpj	A	T	14: 56,558,619 (GRCm38)	H260Q	possibly damaging	Het
Cenpq	A	G	17: 40,933,136 (GRCm38)	V17A	possibly damaging	Het
Cep350	T	C	1: 155,928,116 (GRCm38)	K1074E	probably damaging	Het
Chil4	C	A	3: 106,201,805 (GRCm38)	C394F	probably damaging	Het
Chst9	T	C	18: 15,717,926 (GRCm38)	I28V	probably benign	Het
Clasp2	C	A	9: 113,899,581 (GRCm38)	N873K	probably damaging	Het
Clec4b2	T	A	6: 123,181,310 (GRCm38)	M45K	probably benign	Het
Cmya5	T	A	13: 93,063,540 (GRCm38)	T3427S	possibly damaging	Het
Cnih4	A	G	1: 181,162,212 (GRCm38)	Y130C	probably damaging	Het
Cpne9	T	A	6: 113,304,545 (GRCm38)	M529K	probably damaging	Het
Ctsr	T	A	13: 61,161,825 (GRCm38)	Y190F	probably damaging	Het
Cyp2j13	G	A	4: 96,056,916 (GRCm38)	H351Y	probably benign	Het
Dixdc1	T	A	9: 50,701,965 (GRCm38)	Q230L	probably damaging	Het
Dpep1	A	T	8: 123,200,025 (GRCm38)	I226F	probably benign	Het
Ehd2	A	G	7: 15,957,678 (GRCm38)	V243A	probably benign	Het
Etnk2	T	A	1: 133,378,494 (GRCm38)	Y353N	probably benign	Het
Fgg	G	T	3: 83,013,015 (GRCm38)	G367V	probably damaging	Het
Gm11639	A	T	11: 104,914,895 (GRCm38)	N3076I	unknown	Het
Gm609	T	C	16: 45,443,836 (GRCm38)	T120A	probably benign	Het
Gm9772	T	C	17: 22,006,329 (GRCm38)	*61Q	probably null	Het
Grk5	T	G	19: 61,089,994 (GRCm38)	D496E	possibly damaging	Het
Hc	T	C	2: 35,019,523 (GRCm38)	N915S	probably benign	Het
Iah1	G	T	12: 21,317,387 (GRCm38)	Q31H	probably benign	Het
Insr	T	C	8: 3,169,714 (GRCm38)	D936G	probably benign	Het
Ints6	A	C	14: 62,702,453 (GRCm38)	V596G	probably benign	Het
Ispd	A	T	12: 36,390,482 (GRCm38)	N130Y	probably damaging	Het
Kcnj16	A	G	11: 111,024,851 (GRCm38)	D113G	possibly damaging	Het
Kdm4b	A	T	17: 56,399,771 (GRCm38)	I928F	probably damaging	Het
Lrrc41	C	T	4: 116,075,291 (GRCm38)		probably benign	Het
Lrrc8e	G	A	8: 4,235,070 (GRCm38)	V432I	probably benign	Het
Mamdc4	T	C	2: 25,568,489 (GRCm38)	E336G	probably benign	Het
Maml2	C	A	9: 13,621,622 (GRCm38)	Q711K		Het
Map3k14	T	C	11: 103,227,672 (GRCm38)	T563A	possibly damaging	Het
Mcu	T	A	10: 59,467,713 (GRCm38)	K101*	probably null	Het
Mettl22	T	A	16: 8,485,928 (GRCm38)	V286E	probably damaging	Het
Mon2	A	T	10: 123,009,611 (GRCm38)	N1396K	possibly damaging	Het
Mprip	T	C	11: 59,697,025 (GRCm38)		probably benign	Het
Mrpl51	C	T	6: 125,193,381 (GRCm38)	L117F	probably damaging	Het
Myo1d	C	A	11: 80,674,932 (GRCm38)	V356F	probably damaging	Het
Myo1d	T	A	11: 80,676,932 (GRCm38)	I241F	probably benign	Het
Naalad2	A	T	9: 18,385,934 (GRCm38)		probably benign	Het
Nrap	T	A	19: 56,364,411 (GRCm38)		probably benign	Het
Olfr1134	T	C	2: 87,656,247 (GRCm38)	I225V	possibly damaging	Het
Olfr1336	T	C	7: 6,460,764 (GRCm38)	L85P	probably damaging	Het
Olfr1358	G	A	10: 78,520,450 (GRCm38)	V281M	possibly damaging	Het
Olfr290	T	A	7: 84,916,418 (GRCm38)	I213N	possibly damaging	Het
Olfr30	T	C	11: 58,455,110 (GRCm38)	T280A	possibly damaging	Het
Olfr661	T	A	7: 104,688,180 (GRCm38)	I55N	probably damaging	Het
Osbpl3	T	C	6: 50,351,872 (GRCm38)	D117G	probably damaging	Het
Parp9	C	T	16: 35,953,611 (GRCm38)	R318*	probably null	Het
Pcdhb18	A	G	18: 37,490,321 (GRCm38)	I235V	probably benign	Het
Pex16	T	G	2: 92,379,021 (GRCm38)		probably benign	Het
Piezo2	T	A	18: 63,114,963 (GRCm38)	M489L	probably benign	Het
Pmepa1	C	A	2: 173,227,835 (GRCm38)	G271V	probably damaging	Het
Safb	A	G	17: 56,603,579 (GRCm38)	E659G	unknown	Het
Scn9a	T	C	2: 66,501,666 (GRCm38)	T1289A	probably damaging	Het
Secisbp2l	T	C	2: 125,775,676 (GRCm38)	D27G	possibly damaging	Het
Serpina1f	A	G	12: 103,693,981 (GRCm38)	V14A	probably benign	Het
Serpinb9b	C	A	13: 33,029,469 (GRCm38)	T3N	possibly damaging	Het
Sfxn5	C	T	6: 85,229,200 (GRCm38)	M315I	probably benign	Het
Slc9b2	A	G	3: 135,329,769 (GRCm38)	D333G	probably benign	Het
Sostdc1	A	G	12: 36,317,230 (GRCm38)	N135S	possibly damaging	Het
Spg11	T	G	2: 122,070,944 (GRCm38)	D1505A	probably damaging	Het
Taar7a	T	C	10: 23,993,381 (GRCm38)	N34S	probably benign	Het
Tcerg1l	C	A	7: 138,209,797 (GRCm38)	R556L	possibly damaging	Het
Tcp11l1	T	C	2: 104,688,418 (GRCm38)	K311R	probably benign	Het
Tepp	A	T	8: 95,321,255 (GRCm38)		probably benign	Het
Trbv16	T	G	6: 41,152,038 (GRCm38)	F52C	probably damaging	Het
Ttn	T	A	2: 76,895,672 (GRCm38)	R6073S	unknown	Het
Uba1y	T	C	Y: 828,818 (GRCm38)	I542T	possibly damaging	Het
Vmn1r214	T	C	13: 23,034,912 (GRCm38)	I192T	probably benign	Het
Vmn2r67	C	T	7: 85,137,138 (GRCm38)	C553Y	probably damaging	Het
Zdhhc17	G	T	10: 110,948,260 (GRCm38)	H452N	possibly damaging	Het

Other mutations in Nacad

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00597:Nacad	APN	11	6,600,921 (GRCm38)	missense	probably benign	0.24
IGL00903:Nacad	APN	11	6,600,632 (GRCm38)	missense	probably damaging	0.99
IGL01303:Nacad	APN	11	6,598,279 (GRCm38)	missense	possibly damaging	0.81
IGL01353:Nacad	APN	11	6,600,530 (GRCm38)	missense	possibly damaging	0.70
IGL01833:Nacad	APN	11	6,605,700 (GRCm38)	missense	unknown
IGL02267:Nacad	APN	11	6,602,649 (GRCm38)	missense	probably benign	0.14
IGL02531:Nacad	APN	11	6,598,580 (GRCm38)	missense	possibly damaging	0.90
IGL02994:Nacad	APN	11	6,599,528 (GRCm38)	missense	possibly damaging	0.83
IGL03121:Nacad	APN	11	6,600,933 (GRCm38)	missense	probably damaging	0.98
IGL03161:Nacad	APN	11	6,600,378 (GRCm38)	nonsense	probably null
Locusta	UTSW	11	6,602,387 (GRCm38)	missense	possibly damaging	0.88
migratoria	UTSW	11	6,601,196 (GRCm38)	missense	probably benign	0.30
FR4340:Nacad	UTSW	11	6,599,761 (GRCm38)	small insertion	probably benign
FR4342:Nacad	UTSW	11	6,599,762 (GRCm38)	small insertion	probably benign
FR4548:Nacad	UTSW	11	6,599,760 (GRCm38)	small insertion	probably benign
FR4548:Nacad	UTSW	11	6,599,752 (GRCm38)	small insertion	probably benign
FR4589:Nacad	UTSW	11	6,599,753 (GRCm38)	small insertion	probably benign
FR4976:Nacad	UTSW	11	6,599,763 (GRCm38)	small insertion	probably benign
FR4976:Nacad	UTSW	11	6,599,756 (GRCm38)	small insertion	probably benign
FR4976:Nacad	UTSW	11	6,599,749 (GRCm38)	small insertion	probably benign
PIT4402001:Nacad	UTSW	11	6,598,621 (GRCm38)	missense	probably benign	0.19
R0330:Nacad	UTSW	11	6,600,903 (GRCm38)	missense	probably benign
R0331:Nacad	UTSW	11	6,599,441 (GRCm38)	missense	possibly damaging	0.84
R0409:Nacad	UTSW	11	6,599,810 (GRCm38)	missense	probably benign	0.00
R0612:Nacad	UTSW	11	6,601,382 (GRCm38)	missense	possibly damaging	0.90
R0644:Nacad	UTSW	11	6,599,486 (GRCm38)	missense	possibly damaging	0.69
R0829:Nacad	UTSW	11	6,601,158 (GRCm38)	missense	probably benign	0.18
R1483:Nacad	UTSW	11	6,602,217 (GRCm38)	missense	probably damaging	0.99
R1583:Nacad	UTSW	11	6,601,185 (GRCm38)	missense	probably benign	0.08
R1905:Nacad	UTSW	11	6,602,540 (GRCm38)	missense	probably benign	0.15
R1907:Nacad	UTSW	11	6,602,540 (GRCm38)	missense	probably benign	0.15
R2361:Nacad	UTSW	11	6,600,821 (GRCm38)	missense	probably benign
R2979:Nacad	UTSW	11	6,601,424 (GRCm38)	missense	probably benign	0.06
R4192:Nacad	UTSW	11	6,605,534 (GRCm38)	missense	probably benign	0.44
R4381:Nacad	UTSW	11	6,600,204 (GRCm38)	missense	probably benign	0.18
R4539:Nacad	UTSW	11	6,600,677 (GRCm38)	missense	possibly damaging	0.94
R4751:Nacad	UTSW	11	6,605,726 (GRCm38)	missense	unknown
R4944:Nacad	UTSW	11	6,598,507 (GRCm38)	missense	possibly damaging	0.95
R4962:Nacad	UTSW	11	6,599,169 (GRCm38)	missense	probably damaging	1.00
R5102:Nacad	UTSW	11	6,598,528 (GRCm38)	missense	probably damaging	1.00
R5189:Nacad	UTSW	11	6,601,611 (GRCm38)	missense	probably damaging	0.98
R5296:Nacad	UTSW	11	6,605,745 (GRCm38)	missense	unknown
R5566:Nacad	UTSW	11	6,602,136 (GRCm38)	missense	probably damaging	1.00
R5634:Nacad	UTSW	11	6,602,387 (GRCm38)	missense	possibly damaging	0.88
R5725:Nacad	UTSW	11	6,601,643 (GRCm38)	missense	probably benign	0.15
R5748:Nacad	UTSW	11	6,598,370 (GRCm38)	nonsense	probably null
R5864:Nacad	UTSW	11	6,600,581 (GRCm38)	missense	probably benign
R5882:Nacad	UTSW	11	6,598,568 (GRCm38)	missense	possibly damaging	0.95
R6089:Nacad	UTSW	11	6,601,331 (GRCm38)	missense	probably benign	0.03
R6117:Nacad	UTSW	11	6,599,810 (GRCm38)	missense	probably benign	0.00
R6161:Nacad	UTSW	11	6,600,902 (GRCm38)	missense	probably benign
R6351:Nacad	UTSW	11	6,600,165 (GRCm38)	nonsense	probably null
R6351:Nacad	UTSW	11	6,599,235 (GRCm38)	missense	probably damaging	1.00
R6366:Nacad	UTSW	11	6,601,196 (GRCm38)	missense	probably benign	0.30
R6525:Nacad	UTSW	11	6,602,255 (GRCm38)	missense	probably damaging	1.00
R6811:Nacad	UTSW	11	6,599,400 (GRCm38)	missense	possibly damaging	0.66
R6931:Nacad	UTSW	11	6,601,877 (GRCm38)	missense	probably benign	0.14
R6966:Nacad	UTSW	11	6,602,634 (GRCm38)	missense	possibly damaging	0.93
R7228:Nacad	UTSW	11	6,598,412 (GRCm38)	missense	probably benign	0.19
R7248:Nacad	UTSW	11	6,598,589 (GRCm38)	nonsense	probably null
R7556:Nacad	UTSW	11	6,601,272 (GRCm38)	missense	possibly damaging	0.90
R7594:Nacad	UTSW	11	6,602,457 (GRCm38)	missense	probably damaging	0.99
R7813:Nacad	UTSW	11	6,599,071 (GRCm38)	missense	probably benign	0.38
R7841:Nacad	UTSW	11	6,601,031 (GRCm38)	missense	probably benign	0.00
R8243:Nacad	UTSW	11	6,602,643 (GRCm38)	missense	probably damaging	0.96
R9042:Nacad	UTSW	11	6,598,948 (GRCm38)	missense	possibly damaging	0.95
R9057:Nacad	UTSW	11	6,600,876 (GRCm38)	missense	possibly damaging	0.53
R9114:Nacad	UTSW	11	6,602,252 (GRCm38)	missense	probably damaging	1.00
R9328:Nacad	UTSW	11	6,602,417 (GRCm38)	missense	possibly damaging	0.84
R9394:Nacad	UTSW	11	6,599,390 (GRCm38)	missense	probably damaging	1.00
R9595:Nacad	UTSW	11	6,601,790 (GRCm38)	missense	probably damaging	0.99
R9755:Nacad	UTSW	11	6,599,374 (GRCm38)	critical splice donor site	probably null
R9760:Nacad	UTSW	11	6,601,662 (GRCm38)	missense	probably benign	0.02
T0975:Nacad	UTSW	11	6,601,632 (GRCm38)	missense	probably benign	0.17
T0975:Nacad	UTSW	11	6,601,622 (GRCm38)	missense	probably benign	0.03
T0975:Nacad	UTSW	11	6,599,750 (GRCm38)	small insertion	probably benign
X0011:Nacad	UTSW	11	6,601,074 (GRCm38)	missense	probably benign	0.00
Z1176:Nacad	UTSW	11	6,602,297 (GRCm38)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- ATGACCTGGCATGTCTCCTC -3'
(R):5'- GAATTGTATCCATGGAAACCCGC -3'

Sequencing Primer
(F):5'- TCACCCATCACGATGCGG -3'
(R):5'- TGTATCCATGGAAACCCGCTCATC -3'

Posted On

2021-04-30