Mutagenetix > Incidental Mutation

Incidental Mutation 'R6351:Nacad'

514269

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 #

R6351 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

6597823-6606053 bp(-) (GRCm38)

Type of Mutation

nonsense

DNA Base Change (assembly)

T to A at 6600165 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Stop codon at position 1009 (K1009*)

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 null
Transcript: ENSMUST00000045713
AA Change: K1009*

SMART Domains

Protein: ENSMUSP00000049490
Gene: ENSMUSG00000041073
AA Change: K1009*

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: 99.9%
3x: 99.6%
10x: 98.2%
20x: 94.9%

Validation Efficiency

99% (95/96)

Allele List at MGI

Other mutations in this stock

Total: 94 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700025F22Rik	C	T	19: 11,142,401 (GRCm38)	G14D	probably damaging	Het
4932438A13Rik	G	A	3: 36,908,228 (GRCm38)	A493T	probably damaging	Het
Acaa1a	C	A	9: 119,341,564 (GRCm38)	S17*	probably null	Het
Adamts16	T	A	13: 70,836,203 (GRCm38)	S114C	probably damaging	Het
Agpat5	T	C	8: 18,846,708 (GRCm38)	V50A	probably benign	Het
Agrn	T	C	4: 156,179,434 (GRCm38)	N124S	probably benign	Het
AI481877	T	C	4: 59,069,317 (GRCm38)	D703G	probably benign	Het
Ak8	T	C	2: 28,735,626 (GRCm38)	I227T	probably benign	Het
Akap6	A	G	12: 53,142,025 (GRCm38)	E2074G	probably damaging	Het
Apc	T	A	18: 34,312,212 (GRCm38)	S702R	probably damaging	Het
Ascc3	T	C	10: 50,720,673 (GRCm38)	I1233T	probably damaging	Het
Asphd2	A	T	5: 112,385,832 (GRCm38)	F318I	probably damaging	Het
Bnc2	T	C	4: 84,293,143 (GRCm38)	T397A	probably benign	Het
Bpifb4	C	T	2: 153,957,134 (GRCm38)	T528I	probably damaging	Het
Brinp3	A	G	1: 146,901,585 (GRCm38)	E590G	probably damaging	Het
Ccdc149	A	G	5: 52,385,135 (GRCm38)	S372P	probably benign	Het
Cdhr2	A	G	13: 54,726,776 (GRCm38)	H887R	probably benign	Het
Clcn6	C	T	4: 148,017,500 (GRCm38)	V376I	probably benign	Het
Cntln	T	G	4: 85,115,354 (GRCm38)	C1305W	probably damaging	Het
Cspg4	A	G	9: 56,892,644 (GRCm38)	D1564G	probably benign	Het
Cux1	A	T	5: 136,309,792 (GRCm38)	S582T	probably damaging	Het
Cwh43	G	A	5: 73,411,905 (GRCm38)	A97T	possibly damaging	Het
Dsc1	A	T	18: 20,086,769 (GRCm38)	F781L	probably damaging	Het
Dsc3	G	T	18: 19,966,291 (GRCm38)	H723N	probably benign	Het
Ear10	A	T	14: 43,923,055 (GRCm38)	V105D	probably damaging	Het
Ecel1	A	G	1: 87,149,509 (GRCm38)	V659A	possibly damaging	Het
Eogt	A	T	6: 97,120,194 (GRCm38)	F316I	probably damaging	Het
Etaa1	T	C	11: 17,947,188 (GRCm38)	N310D	possibly damaging	Het
Exoc3l2	G	A	7: 19,469,708 (GRCm38)	R75Q	possibly damaging	Het
Fam186a	A	C	15: 99,941,742 (GRCm38)	L2207R	probably damaging	Het
Fam187b	T	C	7: 30,977,599 (GRCm38)	Y178H	probably damaging	Het
Fat1	A	T	8: 45,033,495 (GRCm38)	Q3362L	probably damaging	Het
Fat3	A	T	9: 15,938,398 (GRCm38)	S3903T	probably damaging	Het
Fsip2	G	A	2: 82,992,684 (GRCm38)	V6254I	possibly damaging	Het
Gabra5	T	C	7: 57,413,780 (GRCm38)	T299A	probably damaging	Het
Gbp11	T	C	5: 105,327,598 (GRCm38)	T295A	probably benign	Het
Glcci1	C	T	6: 8,573,203 (GRCm38)	Q44*	probably null	Het
Gpc5	A	T	14: 115,399,200 (GRCm38)	T432S	probably benign	Het
Grhl1	G	A	12: 24,584,858 (GRCm38)	E228K	probably damaging	Het
Hyal5	T	C	6: 24,891,709 (GRCm38)		probably null	Het
Idh2	TCCCAGG	T	7: 80,098,331 (GRCm38)		probably benign	Het
Ints9	A	G	14: 64,993,007 (GRCm38)	I128V	probably damaging	Het
Kcnt2	A	T	1: 140,375,112 (GRCm38)	N130I	probably damaging	Het
Krba1	T	C	6: 48,414,128 (GRCm38)	V717A	probably benign	Het
Lrp12	T	A	15: 39,878,188 (GRCm38)	D377V	probably damaging	Het
Magi1	G	T	6: 93,943,229 (GRCm38)	D135E	possibly damaging	Het
Map10	T	A	8: 125,671,245 (GRCm38)	L459Q	probably damaging	Het
Mitf	A	G	6: 98,003,912 (GRCm38)	D238G	possibly damaging	Het
Mylk	G	T	16: 34,921,971 (GRCm38)	R951L	probably benign	Het
Ncor1	T	C	11: 62,373,298 (GRCm38)	D786G	probably benign	Het
Oas2	G	A	5: 120,748,538 (GRCm38)	R188C	probably benign	Het
Odf2l	A	G	3: 145,135,718 (GRCm38)	I300V	probably benign	Het
Olfr1502	A	G	19: 13,861,822 (GRCm38)	T10A	probably benign	Het
Olfr338	T	A	2: 36,377,196 (GRCm38)	V140D	possibly damaging	Het
Olfr484	A	G	7: 108,124,430 (GRCm38)	S278P	probably damaging	Het
Olfr624	A	G	7: 103,670,956 (GRCm38)	I25T	possibly damaging	Het
Olfr64	A	T	7: 103,893,135 (GRCm38)	L200*	probably null	Het
Pes1	T	A	11: 3,978,865 (GRCm38)	D574E	probably benign	Het
Phf20	C	T	2: 156,294,210 (GRCm38)	R650C	possibly damaging	Het
Pias4	G	A	10: 81,157,264 (GRCm38)	T248I	probably damaging	Het
Pkhd1	T	C	1: 20,211,951 (GRCm38)	T2889A	probably benign	Het
Plcxd1	C	A	5: 110,102,167 (GRCm38)		probably null	Het
Plekha7	A	G	7: 116,176,898 (GRCm38)	F194L	probably damaging	Het
Plxnb2	T	C	15: 89,157,770 (GRCm38)	N1642S	possibly damaging	Het
Pnpla7	A	T	2: 25,011,564 (GRCm38)	D534V	probably damaging	Het
Ppp2r5c	A	T	12: 110,554,879 (GRCm38)	S279C	probably damaging	Het
Ptprq	T	A	10: 107,708,668 (GRCm38)	T334S	probably damaging	Het
Rab39	T	C	9: 53,686,521 (GRCm38)	D148G	probably benign	Het
Reep3	A	T	10: 67,034,653 (GRCm38)	F121L	probably benign	Het
Reln	G	T	5: 21,901,663 (GRCm38)	C3236*	probably null	Het
Rrp8	C	T	7: 105,734,809 (GRCm38)	C162Y	probably damaging	Het
Scrib	C	A	15: 76,064,986 (GRCm38)	Q399H	possibly damaging	Het
Sertad1	T	A	7: 27,489,799 (GRCm38)	Y182N	possibly damaging	Het
Sfrp5	A	G	19: 42,201,824 (GRCm38)	V63A	possibly damaging	Het
Slc46a1	T	C	11: 78,467,159 (GRCm38)	M346T	probably benign	Het
Sycp2	A	G	2: 178,363,416 (GRCm38)	L886S	probably damaging	Het
Teddm1b	A	T	1: 153,874,759 (GRCm38)	I105F	probably benign	Het
Thumpd1	A	T	7: 119,720,605 (GRCm38)	I46N	possibly damaging	Het
Tmod4	A	G	3: 95,127,853 (GRCm38)	N223S	probably damaging	Het
Tnfrsf10b	G	C	14: 69,773,401 (GRCm38)	C85S	probably damaging	Het
Tox	T	C	4: 6,741,536 (GRCm38)	Q148R	probably benign	Het
Tox	T	C	4: 6,697,439 (GRCm38)	T455A	probably benign	Het
Trp53bp1	A	C	2: 121,269,945 (GRCm38)	S109R	probably damaging	Het
Tshz2	A	T	2: 169,884,968 (GRCm38)	T26S	probably benign	Het
Tubb4a	T	A	17: 57,081,016 (GRCm38)	N337Y	probably damaging	Het
Tubb6	T	A	18: 67,401,388 (GRCm38)	V119E	probably damaging	Het
Unk	C	T	11: 116,054,946 (GRCm38)	T481I	probably benign	Het
Vmn2r112	C	T	17: 22,601,278 (GRCm38)	T44I	probably benign	Het
Vstm5	G	A	9: 15,257,533 (GRCm38)	G131D	probably damaging	Het
Wscd1	T	C	11: 71,759,883 (GRCm38)	L12P	probably damaging	Het
Zfp369	T	A	13: 65,296,230 (GRCm38)	S396T	possibly damaging	Het
Zfp932	T	A	5: 110,009,343 (GRCm38)	C302*	probably null	Het
Zfp972	A	T	2: 177,906,935 (GRCm38)		probably null	Het
Zfyve21	C	A	12: 111,827,594 (GRCm38)	A212E	probably benign	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	6,599,235 (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
R8810:Nacad	UTSW	11	6,602,853 (GRCm38)	missense	probably benign	0.15
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'- AGGAACCTAGCCTGGCTTGTAC -3'
(R):5'- TCAGAGCCAGGTTACAAGAGTG -3'

Sequencing Primer
(F):5'- TGGCTTGTACAGATACAGCC -3'
(R):5'- CCAGGTTACAAGAGTGACAGCTTTG -3'

Posted On

2018-04-27