Mutagenetix > Incidental Mutation

Incidental Mutation 'R5296:Nacad'

405428

Institutional Source

Beutler Lab

Gene Symbol

Nacad

Ensembl Gene

ENSMUSG00000041073

Gene Name

NAC alpha domain containing

Synonyms

mKIAA0363

MMRRC Submission

042879-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5296 (G1)

Quality Score

202

Status

Validated

Chromosome

Chromosomal Location

6547823-6556053 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 6555745 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Glycine at position 2 (S2G)

Ref Sequence

ENSEMBL: ENSMUSP00000049490 (fasta)

Gene Model

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

AlphaFold

Q5SWP3

Predicted Effect

unknown
Transcript: ENSMUST00000045713
AA Change: S2G

SMART Domains

Protein: ENSMUSP00000049490
Gene: ENSMUSG00000041073
AA Change: S2G

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

Meta Mutation Damage Score

0.0869

Coding Region Coverage

1x: 99.5%
3x: 98.9%
10x: 97.9%
20x: 96.6%

Validation Efficiency

100% (65/65)

Allele List at MGI

Other mutations in this stock

Total: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Apobr	A	C	7: 126,187,196 (GRCm39)	D89A	probably damaging	Het
Bhlhe41	C	T	6: 145,808,694 (GRCm39)		probably benign	Het
Cacna1s	G	A	1: 136,023,523 (GRCm39)	V674M	probably benign	Het
Cavin2	T	C	1: 51,329,029 (GRCm39)		probably null	Het
Cd300lb	T	C	11: 114,815,763 (GRCm39)	S106G	possibly damaging	Het
Ceacam15	A	G	7: 16,407,121 (GRCm39)	V132A	probably benign	Het
Ddi2	G	T	4: 141,412,076 (GRCm39)	Q279K	probably benign	Het
Dnah11	A	G	12: 117,847,151 (GRCm39)	V4304A	probably damaging	Het
Dnah2	C	T	11: 69,349,746 (GRCm39)	R2399Q	probably benign	Het
Dnase1l1	C	T	X: 73,320,644 (GRCm39)		probably null	Het
Epsti1	T	A	14: 78,142,090 (GRCm39)	H55Q	probably benign	Het
Flad1	T	C	3: 89,318,503 (GRCm39)	T17A	probably damaging	Het
Fzd2	C	T	11: 102,496,981 (GRCm39)	T475M	probably damaging	Het
Gemin5	C	A	11: 58,020,887 (GRCm39)	W1099L	probably damaging	Het
Gm9892	T	C	8: 52,649,964 (GRCm39)		noncoding transcript	Het
Gmeb2	A	G	2: 180,897,779 (GRCm39)		probably benign	Het
Grip1	A	G	10: 119,765,833 (GRCm39)	E55G	probably damaging	Het
Gvin-ps3	A	T	7: 105,681,055 (GRCm39)		noncoding transcript	Het
Hltf	T	C	3: 20,162,276 (GRCm39)	S825P	probably damaging	Het
Kcnh3	A	T	15: 99,139,820 (GRCm39)	Q902L	probably null	Het
Kcnt2	C	T	1: 140,537,353 (GRCm39)	P1037L	probably damaging	Het
Klhl18	G	C	9: 110,265,195 (GRCm39)	N335K	possibly damaging	Het
Lama5	A	C	2: 179,835,594 (GRCm39)	L1253R	probably damaging	Het
Lancl2	T	G	6: 57,701,567 (GRCm39)	S230A	probably benign	Het
Lmcd1	A	G	6: 112,292,549 (GRCm39)	M134V	probably damaging	Het
Lrrc23	C	A	6: 124,751,445 (GRCm39)	A205S	probably damaging	Het
Mfsd13b	T	A	7: 120,590,961 (GRCm39)	I234N	probably damaging	Het
Mroh3	A	G	1: 136,124,061 (GRCm39)	S386P	probably damaging	Het
Mylk3	A	C	8: 86,082,060 (GRCm39)	F313V	possibly damaging	Het
Myo9b	A	T	8: 71,786,032 (GRCm39)	Q643L	possibly damaging	Het
Olfr908	T	C	9: 38,427,412 (GRCm39)	F28S	probably damaging	Het
Or10z1	G	T	1: 174,078,322 (GRCm39)	T57K	possibly damaging	Het
Or2n1d	C	T	17: 38,646,347 (GRCm39)	Q100*	probably null	Het
Or4x6	A	T	2: 89,949,043 (GRCm39)	W300R	probably damaging	Het
Pkd1	T	C	17: 24,795,048 (GRCm39)	V2245A	probably damaging	Het
Pkdrej	G	A	15: 85,701,319 (GRCm39)	T1539I	possibly damaging	Het
Plch2	G	T	4: 155,074,456 (GRCm39)		probably null	Het
Pygm	G	A	19: 6,434,609 (GRCm39)	R34H	probably damaging	Het
Rgs12	T	C	5: 35,178,448 (GRCm39)		probably benign	Het
Ruvbl1	T	C	6: 88,462,890 (GRCm39)	I338T	probably damaging	Het
Sapcd1	T	A	17: 35,245,707 (GRCm39)	Q104L	probably damaging	Het
Satb2	T	C	1: 56,836,066 (GRCm39)	E575G	probably damaging	Het
Sema6b	T	A	17: 56,434,091 (GRCm39)		probably null	Het
Slc25a11	T	C	11: 70,537,011 (GRCm39)	N15D	probably damaging	Het
Slc26a6	C	T	9: 108,737,845 (GRCm39)	T526M	probably damaging	Het
Tcaf3	G	T	6: 42,564,444 (GRCm39)	T906K	possibly damaging	Het
Thbd	A	T	2: 148,248,903 (GRCm39)	C322S	probably damaging	Het
Traf2	A	G	2: 25,410,452 (GRCm39)	L399P	probably damaging	Het
Troap	T	A	15: 98,976,698 (GRCm39)	V274D	probably damaging	Het
Utrn	G	A	10: 12,277,099 (GRCm39)	T3406M	probably damaging	Het
Uts2	G	T	4: 151,083,508 (GRCm39)	A40S	possibly damaging	Het
Vmn2r109	T	A	17: 20,774,603 (GRCm39)	I251F	possibly damaging	Het
Vmn2r67	A	G	7: 84,786,230 (GRCm39)	S592P	probably damaging	Het
Vps13b	T	G	15: 35,876,559 (GRCm39)	W2797G	probably damaging	Het
Ythdf1	A	T	2: 180,553,981 (GRCm39)	M51K	probably damaging	Het
Zfp60	T	A	7: 27,437,955 (GRCm39)		probably benign	Het
Zfp882	T	A	8: 72,668,204 (GRCm39)	F344I	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
R0829:Nacad	UTSW	11	6,551,158 (GRCm39)	missense	probably benign	0.18
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
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'- TCACGAAATCCTGGGGCTTG -3'
(R):5'- ATATTAACCCGCACCCCTGG -3'

Sequencing Primer
(F):5'- ACGTGTGCCTGCCGATAC -3'
(R):5'- ACCCCTGGTTCTGGAGACAC -3'

Posted On

2016-07-22