Mutagenetix > Incidental Mutation

Incidental Mutation 'R0079:Nsun7'

19601

Institutional Source

Beutler Lab

Gene Symbol

Nsun7

Ensembl Gene

ENSMUSG00000029206

Gene Name

NOL1/NOP2/Sun domain family, member 7

Synonyms

4921525L17Rik

MMRRC Submission

038366-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0079 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

66259897-66298026 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 66295513 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Proline to Serine at position 558 (P558S)

Ref Sequence

ENSEMBL: ENSMUSP00000144520 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000031109] [ENSMUST00000159512] [ENSMUST00000159786] [ENSMUST00000160870] [ENSMUST00000162366] [ENSMUST00000201100] [ENSMUST00000202994]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000031109
AA Change: P558S

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)

SMART Domains

Protein: ENSMUSP00000031109
Gene: ENSMUSG00000029206
AA Change: P558S

Domain	Start	End	E-Value	Type
Pfam:Nol1_Nop2_Fmu	394	477	4.2e-7	PFAM
low complexity region	543	555	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000113720
AA Change: P558S

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)

SMART Domains

Protein: ENSMUSP00000109349
Gene: ENSMUSG00000029206
AA Change: P558S

Domain	Start	End	E-Value	Type
Pfam:Nol1_Nop2_Fmu	312	479	4.4e-9	PFAM
low complexity region	543	555	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000159512

SMART Domains

Protein: ENSMUSP00000124807
Gene: ENSMUSG00000029207

Domain	Start	End	E-Value	Type
WW	292	323	1.06e-7	SMART
PTB	394	538	2.87e-41	SMART
PTB	565	695	2.5e-41	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000159786

SMART Domains

Protein: ENSMUSP00000125211
Gene: ENSMUSG00000029207

Domain	Start	End	E-Value	Type
WW	291	322	1.06e-7	SMART
PTB	414	560	4.29e-40	SMART
PTB	587	717	2.5e-41	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000160870

SMART Domains

Protein: ENSMUSP00000123978
Gene: ENSMUSG00000029207

Domain	Start	End	E-Value	Type
WW	291	322	1.06e-7	SMART
PTB	393	537	2.87e-41	SMART
PTB	564	694	2.5e-41	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000162366

SMART Domains

Protein: ENSMUSP00000125116
Gene: ENSMUSG00000029207

Domain	Start	End	E-Value	Type
WW	291	322	1.06e-7	SMART
PTB	393	537	2.87e-41	SMART
PTB	563	693	2.5e-41	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000162955

Predicted Effect

probably benign
Transcript: ENSMUST00000201100
AA Change: P558S

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)

SMART Domains

Protein: ENSMUSP00000144520
Gene: ENSMUSG00000029206
AA Change: P558S

Domain	Start	End	E-Value	Type
Pfam:Nol1_Nop2_Fmu	312	479	4.3e-9	PFAM
low complexity region	543	555	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000202994
AA Change: P524S

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)

SMART Domains

Protein: ENSMUSP00000144498
Gene: ENSMUSG00000029206
AA Change: P524S

Domain	Start	End	E-Value	Type
PDB:2B9E\|A	205	479	5e-17	PDB
low complexity region	509	521	N/A	INTRINSIC

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 98.8%
3x: 97.8%
10x: 95.4%
20x: 90.7%

Validation Efficiency

78% (155/199)

MGI Phenotype

FUNCTION: This gene encodes a member of the NOL1/NOP2/sun domain RNA methyltransferase family. Mice with a mutation in this gene exhibit male sterility due to impaired sperm motility. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Nov 2014]
PHENOTYPE: Males homozygous for an ENU-induced mutation are either infertile or subfertile. Mutant sperm exhibit poor progressive motility linked to rigidity of the flagellar midpiece and abnormal electron density patterns in the mitochondrial sheath. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2410004P03Rik	T	A	12: 17,007,182	T105S	possibly damaging	Het
Abca13	G	A	11: 9,293,493	M1785I	probably benign	Het
Adamts3	G	C	5: 89,693,053	P804A	probably benign	Het
Ahrr	G	A	13: 74,283,024		probably benign	Het
Ank2	G	T	3: 126,934,615	D776E	probably benign	Het
Cep152	T	A	2: 125,618,453	K193M	possibly damaging	Het
Cep55	C	T	19: 38,060,321	L142F	probably benign	Het
Chd5	A	G	4: 152,385,749	Y1884C	probably damaging	Het
Clasp1	T	C	1: 118,543,304	L890P	probably damaging	Het
Cul9	C	A	17: 46,537,663	E716*	probably null	Het
Cytip	T	A	2: 58,159,994	D21V	probably benign	Het
Denr	T	G	5: 123,924,845	F137C	probably damaging	Het
Dhrs3	A	T	4: 144,920,048	S197C	probably damaging	Het
Egr4	A	T	6: 85,512,769	M103K	probably damaging	Het
Eif4enif1	C	T	11: 3,242,676	Q835*	probably null	Het
Gckr	A	G	5: 31,306,539	I268V	probably benign	Het
Glt6d1	C	A	2: 25,794,727		probably null	Het
Hpd	T	C	5: 123,181,481	Y8C	probably damaging	Het
Il12rb2	A	T	6: 67,361,905	F16I	probably benign	Het
Ildr2	A	T	1: 166,307,720	Y347F	probably damaging	Het
Kcnv1	T	C	15: 45,113,333	D186G	probably damaging	Het
Khdrbs2	A	G	1: 32,519,915		probably null	Het
L1cam	G	T	X: 73,869,758	P16H	probably damaging	Het
Lyn	A	G	4: 3,746,768	H161R	probably damaging	Het
Mctp2	T	A	7: 72,214,116		probably benign	Het
Miox	C	T	15: 89,336,274	L189F	possibly damaging	Het
Mitf	A	C	6: 97,996,440	M220L	probably benign	Het
Mrpl21	T	C	19: 3,284,807	Y50H	possibly damaging	Het
Myh1	T	A	11: 67,213,411	L968Q	probably damaging	Het
Myo3b	A	G	2: 70,095,158	K18E	possibly damaging	Het
Ncoa6	TGC	TGCGC	2: 155,408,291		probably null	Het
Nlrp2	T	A	7: 5,327,730	T556S	possibly damaging	Het
Nsmf	T	C	2: 25,059,084		probably benign	Het
Olfr1168	A	T	2: 88,185,354	Y159F	possibly damaging	Het
Olfr1564	G	A	17: 33,216,105	R80C	probably benign	Het
Olfr394	T	G	11: 73,887,737	I212L	probably benign	Het
Olfr679	T	C	7: 105,085,928	S71P	probably damaging	Het
Papd5	T	A	8: 88,200,003	Y14N	possibly damaging	Het
Phf19	T	C	2: 34,895,954	N501S	probably benign	Het
Ranbp17	A	C	11: 33,500,682	I85S	probably damaging	Het
Robo1	A	G	16: 72,933,342		probably benign	Het
Sntg1	A	G	1: 8,679,062		probably benign	Het
Snx15	A	G	19: 6,123,913	L58P	probably damaging	Het
Spink5	G	T	18: 43,977,764	C134F	probably damaging	Het
Strip2	T	C	6: 29,920,533		probably null	Het
Taf1d	C	T	9: 15,309,944	A182V	probably benign	Het
Tenm3	A	G	8: 48,343,345	V475A	possibly damaging	Het
Tgds	A	T	14: 118,116,235	H223Q	possibly damaging	Het
Thoc2	G	T	X: 41,864,108	S230Y	probably benign	Het
Tm9sf4	T	A	2: 153,191,145	V290E	probably damaging	Het
Trak2	A	T	1: 58,926,724	L97Q	probably damaging	Het
Trnau1ap	A	G	4: 132,314,345	Y145H	probably damaging	Het
Vars2	A	T	17: 35,659,156	D780E	probably damaging	Het
Vmn1r170	T	A	7: 23,606,310	S46T	possibly damaging	Het
Vmn1r20	A	T	6: 57,431,792	R34S	possibly damaging	Het
Vmn1r28	G	A	6: 58,265,717	A182T	probably benign	Het
Wdr64	T	C	1: 175,795,102	M805T	probably benign	Het
Xdh	G	A	17: 73,891,218	R1225C	probably damaging	Het
Zfp341	T	A	2: 154,624,994	Y94*	probably null	Het
Zfp641	T	C	15: 98,289,089	N218D	probably benign	Het
Zscan22	T	C	7: 12,904,087		probably null	Het

Other mutations in Nsun7

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00960:Nsun7	APN	5	66289503	missense	probably benign	0.00
IGL01013:Nsun7	APN	5	66283601	missense	possibly damaging	0.87
IGL01355:Nsun7	APN	5	66294868	missense	probably damaging	1.00
IGL01768:Nsun7	APN	5	66278700	missense	probably benign	0.11
IGL01914:Nsun7	APN	5	66276634	missense	probably damaging	1.00
IGL01990:Nsun7	APN	5	66261073	missense	probably damaging	1.00
IGL02477:Nsun7	APN	5	66276649	missense	probably damaging	0.99
R0071:Nsun7	UTSW	5	66264045	missense	probably benign	0.00
R0071:Nsun7	UTSW	5	66264045	missense	probably benign	0.00
R0255:Nsun7	UTSW	5	66289408	splice site	probably benign
R0503:Nsun7	UTSW	5	66283581	splice site	probably benign
R0540:Nsun7	UTSW	5	66283634	missense	probably damaging	0.98
R1416:Nsun7	UTSW	5	66261080	missense	probably damaging	0.98
R1471:Nsun7	UTSW	5	66284229	missense	probably benign	0.00
R1942:Nsun7	UTSW	5	66284245	missense	probably benign	0.00
R1981:Nsun7	UTSW	5	66261214	missense	probably damaging	0.99
R2037:Nsun7	UTSW	5	66261086	missense	probably benign	0.06
R2098:Nsun7	UTSW	5	66283712	missense	probably damaging	0.98
R2226:Nsun7	UTSW	5	66261219	nonsense	probably null
R2996:Nsun7	UTSW	5	66295554	missense	probably benign	0.01
R3882:Nsun7	UTSW	5	66278640	missense	probably damaging	0.99
R4678:Nsun7	UTSW	5	66261064	missense	probably benign	0.00
R4681:Nsun7	UTSW	5	66261199	missense	probably benign	0.00
R4997:Nsun7	UTSW	5	66295839	missense	probably benign	0.02
R6108:Nsun7	UTSW	5	66295799	missense	probably damaging	0.99
R6465:Nsun7	UTSW	5	66295586	missense	probably benign	0.35
R6500:Nsun7	UTSW	5	66295484	missense	probably benign	0.11
R6746:Nsun7	UTSW	5	66283737	critical splice donor site	probably null
R6925:Nsun7	UTSW	5	66277072	missense	probably damaging	1.00
R7032:Nsun7	UTSW	5	66264035	missense	probably benign	0.02
R7084:Nsun7	UTSW	5	66295421	missense	probably damaging	1.00
R7098:Nsun7	UTSW	5	66260983	missense	probably damaging	0.98
R7216:Nsun7	UTSW	5	66278657	missense	probably damaging	1.00
R7276:Nsun7	UTSW	5	66277141	missense	probably benign	0.03
R7803:Nsun7	UTSW	5	66276541	nonsense	probably null
R8877:Nsun7	UTSW	5	66295951	nonsense	probably null
R9167:Nsun7	UTSW	5	66278651	missense	possibly damaging	0.95
R9222:Nsun7	UTSW	5	66261023	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- ACGCGGTCTGTAAATGGGGAAC -3'
(R):5'- GCTTGAGACACAGTCTTTGCTGGG -3'

Sequencing Primer
(F):5'- GGAGCTAGGGCCTAAAAATCATTTAC -3'
(R):5'- TCTTTGCTGGGGCGGAC -3'

Posted On

2013-04-11