Mutagenetix > Incidental Mutation

Incidental Mutation 'R5510:Nsun4'

431133

Institutional Source

Beutler Lab

Gene Symbol

Nsun4

Ensembl Gene

ENSMUSG00000028706

Gene Name

NOL1/NOP2/Sun domain family, member 4

Synonyms

MMRRC Submission

043071-MU

Accession Numbers

Is this an essential gene?

Possibly non essential (E-score: 0.466) question?

Stock #

R5510 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

116032842-116053876 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 116051777 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Isoleucine at position 529 (V529I)

Ref Sequence

ENSEMBL: ENSMUSP00000130430 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000030474] [ENSMUST00000030475] [ENSMUST00000165493]

AlphaFold

C4P6S0

Predicted Effect

probably benign
Transcript: ENSMUST00000030474

SMART Domains

Protein: ENSMUSP00000030474
Gene: ENSMUSG00000028706

Domain	Start	End	E-Value	Type
Pfam:Nol1_Nop2_Fmu	28	199	3.9e-13	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000030475

SMART Domains

Protein: ENSMUSP00000030475
Gene: ENSMUSG00000028706

Domain	Start	End	E-Value	Type
low complexity region	5	16	N/A	INTRINSIC
Pfam:Nol1_Nop2_Fmu	163	356	9.7e-31	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000136655

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000151720

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000152712

Predicted Effect

possibly damaging
Transcript: ENSMUST00000165493
AA Change: V529I

PolyPhen 2 Score 0.455 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000130430
Gene: ENSMUSG00000028706
AA Change: V529I

Domain	Start	End	E-Value	Type
low complexity region	91	124	N/A	INTRINSIC
low complexity region	277	290	N/A	INTRINSIC
low complexity region	476	490	N/A	INTRINSIC
low complexity region	553	565	N/A	INTRINSIC
low complexity region	572	596	N/A	INTRINSIC
low complexity region	677	700	N/A	INTRINSIC
low complexity region	710	723	N/A	INTRINSIC
low complexity region	733	756	N/A	INTRINSIC

Meta Mutation Damage Score

0.1795

Coding Region Coverage

1x: 98.5%
3x: 97.3%
10x: 95.1%
20x: 90.1%

Validation Efficiency

99% (91/92)

Allele List at MGI

Other mutations in this stock

Total: 73 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700011I03Rik	G	A	18: 57,538,084		probably null	Het
1700014D04Rik	T	C	13: 59,742,420		probably null	Het
Adgrl4	T	G	3: 151,497,830	I59R	possibly damaging	Het
Adgrv1	T	A	13: 81,445,244	D4208V	probably damaging	Het
Aimp2	A	T	5: 143,906,529		probably benign	Het
Ank3	G	A	10: 70,002,565	R1566K	possibly damaging	Het
Ankib1	A	G	5: 3,729,693	V392A	probably benign	Het
Ap2b1	A	G	11: 83,336,737		probably null	Het
Arsg	A	G	11: 109,527,874	E232G	probably benign	Het
Axdnd1	A	G	1: 156,335,350	F144S	probably benign	Het
Bud13	T	A	9: 46,292,200	M111K	probably damaging	Het
Cav2	T	C	6: 17,287,013	F152S	possibly damaging	Het
Ccdc180	A	G	4: 45,928,046	T1194A	probably damaging	Het
Ccdc88c	T	C	12: 100,945,031	K848R	probably damaging	Het
Ceacam15	A	G	7: 16,672,099	W176R	probably damaging	Het
Cenpf	A	T	1: 189,682,903	D136E	probably benign	Het
Dclk2	T	C	3: 86,906,037	I201V	possibly damaging	Het
Defa24	T	A	8: 21,734,596	D20E	probably damaging	Het
Dgcr8	T	C	16: 18,277,175	N566D	probably damaging	Het
Dido1	C	A	2: 180,685,173	V386L	probably benign	Het
Dnah2	C	T	11: 69,458,920	R2399Q	probably benign	Het
Dtx3	G	A	10: 127,192,938	P141S	probably benign	Het
Fmn1	T	C	2: 113,596,369	Y1144H	probably damaging	Het
Gabbr2	A	G	4: 46,734,113	L535P	probably damaging	Het
Gimap3	T	A	6: 48,765,249	E249V	possibly damaging	Het
Git2	A	T	5: 114,743,774		probably null	Het
Gm4922	T	C	10: 18,783,997	T326A	probably benign	Het
Gsdmc2	T	G	15: 63,828,196	E242D	probably benign	Het
Hdgfl2	G	A	17: 56,082,118	G31S	possibly damaging	Het
Herc2	A	T	7: 56,206,771	I3956F	probably damaging	Het
Hsf2bp	G	A	17: 31,946,747	R134C	unknown	Het
Igf1r	G	C	7: 68,193,359	R739S	probably benign	Het
Igkv4-51	T	C	6: 69,681,459	E102G	probably damaging	Het
Kif1a	T	G	1: 93,041,692	I1156L	possibly damaging	Het
Kti12	T	C	4: 108,848,624	L245S	probably damaging	Het
Med17	A	G	9: 15,270,404	S17P	probably benign	Het
Mllt6	G	A	11: 97,669,500	S210N	possibly damaging	Het
Mrps18b	A	G	17: 35,914,323		probably benign	Het
Ms4a8a	A	G	19: 11,079,464	S85P	probably benign	Het
Msln	T	C	17: 25,749,873	Q487R	probably benign	Het
Myh13	A	G	11: 67,337,723	N363S	probably benign	Het
Myo6	T	C	9: 80,245,660	F192L	probably damaging	Het
Nfkbiz	T	C	16: 55,814,020	D688G	probably damaging	Het
Olfr105-ps	A	T	17: 37,383,301	M245L	probably benign	Het
Olfr345	G	A	2: 36,640,963	R308K	probably benign	Het
Olfr495	G	A	7: 108,395,125	A2T	probably benign	Het
Phf11a	C	A	14: 59,279,385	C208F	probably damaging	Het
Plekhh2	G	A	17: 84,566,847	C520Y	probably benign	Het
Plxna4	C	A	6: 32,178,358	M1550I	probably damaging	Het
Pnpla6	A	T	8: 3,521,397	Y140F	probably damaging	Het
Ppp1r12a	T	A	10: 108,249,627	S478T	possibly damaging	Het
Prkcz	C	A	4: 155,272,936		probably null	Het
Prss55	T	A	14: 64,077,125	M199L	probably damaging	Het
Qrich1	G	A	9: 108,556,460	V651I	possibly damaging	Het
Ralyl	T	C	3: 13,776,945	V47A	probably damaging	Het
Raph1	A	T	1: 60,522,946		probably benign	Het
Rgs12	T	C	5: 34,966,039	Y389H	probably damaging	Het
Sec24b	C	A	3: 130,040,895	G82V	probably damaging	Het
Sema4a	A	G	3: 88,449,986		probably null	Het
Slc25a11	A	T	11: 70,645,535	W149R	probably damaging	Het
Slc2a7	T	G	4: 150,160,094	S340A	probably benign	Het
Slc32a1	T	A	2: 158,614,796	M457K	probably damaging	Het
Spint4	C	T	2: 164,700,892	T135M	probably damaging	Het
Sult2a2	A	C	7: 13,738,303	N142H	probably damaging	Het
Tbc1d1	G	A	5: 64,333,395	G863D	probably damaging	Het
Tmem156	G	A	5: 65,075,574	T151M	probably benign	Het
Trip12	T	C	1: 84,768,680	Q459R	probably damaging	Het
Vmn2r116	G	A	17: 23,386,121	C136Y	probably damaging	Het
Vmn2r51	C	T	7: 10,102,618	V79M	possibly damaging	Het
Vmn2r67	A	T	7: 85,151,815	D304E	probably benign	Het
Wdr93	T	A	7: 79,750,031	F123I	probably damaging	Het
Zfp672	A	T	11: 58,316,630	C288*	probably null	Het
Zp1	T	C	19: 10,919,405	Y90C	probably damaging	Het

Other mutations in Nsun4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
BB009:Nsun4	UTSW	4	116044800	missense	probably damaging	1.00
BB019:Nsun4	UTSW	4	116044800	missense	probably damaging	1.00
R0089:Nsun4	UTSW	4	116035773	missense	probably benign	0.01
R0306:Nsun4	UTSW	4	116052822	nonsense	probably null
R0365:Nsun4	UTSW	4	116044738	missense	probably damaging	1.00
R1440:Nsun4	UTSW	4	116052950	missense	possibly damaging	0.83
R1624:Nsun4	UTSW	4	116034200	missense	probably benign	0.05
R2058:Nsun4	UTSW	4	116053680	splice site	probably null
R2262:Nsun4	UTSW	4	116052950	missense	probably benign	0.27
R2438:Nsun4	UTSW	4	116048597	missense	probably benign	0.01
R3029:Nsun4	UTSW	4	116052725	missense	possibly damaging	0.83
R4012:Nsun4	UTSW	4	116051062	missense	possibly damaging	0.66
R4162:Nsun4	UTSW	4	116034194	nonsense	probably null
R4166:Nsun4	UTSW	4	116034051	missense	probably damaging	0.98
R4277:Nsun4	UTSW	4	116034282	missense	probably damaging	1.00
R4433:Nsun4	UTSW	4	116040130	missense	possibly damaging	0.75
R4450:Nsun4	UTSW	4	116051256	nonsense	probably null
R5077:Nsun4	UTSW	4	116048584	missense	probably benign	0.00
R5307:Nsun4	UTSW	4	116034138	missense	probably damaging	0.98
R5509:Nsun4	UTSW	4	116051777	missense	possibly damaging	0.46
R6145:Nsun4	UTSW	4	116040206	missense	probably damaging	1.00
R6520:Nsun4	UTSW	4	116044738	missense	probably damaging	1.00
R6848:Nsun4	UTSW	4	116052934	missense	possibly damaging	0.90
R7346:Nsun4	UTSW	4	116051838	missense	probably benign	0.01
R7528:Nsun4	UTSW	4	116034194	nonsense	probably null
R7560:Nsun4	UTSW	4	116051494	missense	possibly damaging	0.92
R7719:Nsun4	UTSW	4	116052420	missense	possibly damaging	0.82
R7798:Nsun4	UTSW	4	116051174	missense	possibly damaging	0.83
R7868:Nsun4	UTSW	4	116034132	missense	probably benign
R7932:Nsun4	UTSW	4	116044800	missense	probably damaging	1.00
R8074:Nsun4	UTSW	4	116051434	missense	possibly damaging	0.92
R8109:Nsun4	UTSW	4	116051843	missense	probably benign	0.00
R9006:Nsun4	UTSW	4	116040119	missense	probably damaging	1.00
R9260:Nsun4	UTSW	4	116044810	missense	probably damaging	1.00
R9383:Nsun4	UTSW	4	116034276	missense	probably benign	0.02
R9592:Nsun4	UTSW	4	116051655	missense	possibly damaging	0.66

Predicted Primers

PCR Primer
(F):5'- CTGGGAGCAGAATAAGTGCC -3'
(R):5'- TGTCGGTCCCTAGACAATACAC -3'

Sequencing Primer
(F):5'- TGCCACAAGGGAGAACCGC -3'
(R):5'- GGTCCCTAGACAATACACCCCAC -3'

Posted On

2016-10-05