Mutagenetix > Incidental Mutations

Incidental Mutation 'R6108:Nsun7'

485598

Institutional Source

Beutler Lab

Gene Symbol

Nsun7

Ensembl Gene

ENSMUSG00000029206

Gene Name

NOL1/NOP2/Sun domain family, member 7

Synonyms

4921525L17Rik

MMRRC Submission

044258-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6108 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

66259897-66298026 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 66295799 bp

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Asparagine at position 619 (I619N)

Ref Sequence

ENSEMBL: ENSMUSP00000144498 (fasta)

Gene Model

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000031109
AA Change: I653N

PolyPhen 2 Score 0.974 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000031109
Gene: ENSMUSG00000029206
AA Change: I653N

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: 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 damaging
Transcript: ENSMUST00000201100
AA Change: I653N

PolyPhen 2 Score 0.974 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000144520
Gene: ENSMUSG00000029206
AA Change: I653N

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

noncoding transcript
Transcript: ENSMUST00000201776

Predicted Effect

probably damaging
Transcript: ENSMUST00000202994
AA Change: I619N

PolyPhen 2 Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000144498
Gene: ENSMUSG00000029206
AA Change: I619N

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

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 97.9%
20x: 93.8%

Validation Efficiency

96% (53/55)

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: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrv1	A	G	13: 81,391,695	F5702L	probably damaging	Het
Aptx	G	A	4: 40,694,986	Q117*	probably null	Het
Axin1	T	A	17: 26,143,240	M186K	probably damaging	Het
Btbd2	A	T	10: 80,645,531	L249Q	probably damaging	Het
Caprin1	C	T	2: 103,776,017	V293I	possibly damaging	Het
Ccdc136	C	A	6: 29,412,450	H334Q	probably benign	Het
Ccdc180	A	G	4: 45,911,389	N568S	possibly damaging	Het
Cenpf	A	T	1: 189,662,013	F515L	probably benign	Het
Chrm2	T	A	6: 36,523,295	V29E	probably damaging	Het
Cnot1	A	G	8: 95,730,420	L1956P	probably damaging	Het
Cyp2d22	T	C	15: 82,371,905	K176R	possibly damaging	Het
Dnah7a	A	T	1: 53,456,845	I3151N	probably damaging	Het
Dsg1a	T	A	18: 20,340,247	D792E	probably benign	Het
Fam167b	A	T	4: 129,578,308	L23*	probably null	Het
Fermt3	C	A	19: 7,014,414	R143L	probably benign	Het
Gfm2	A	G	13: 97,149,422	I140V	possibly damaging	Het
Gna14	A	G	19: 16,603,343	T182A	probably damaging	Het
Hmcn1	A	G	1: 150,631,227	V3738A	possibly damaging	Het
Hspa4	C	T	11: 53,261,712	G810D	probably damaging	Het
Igf2bp3	A	G	6: 49,117,374	I154T	probably damaging	Het
Il1rap	G	A	16: 26,722,707	S566N	probably damaging	Het
Kcnb1	G	A	2: 167,105,140	T596M	probably damaging	Het
Kcnn1	A	C	8: 70,855,156	S81A	probably benign	Het
Lmod1	G	A	1: 135,364,111	G235R	probably benign	Het
Mei1	A	T	15: 82,075,188	R185S	possibly damaging	Het
Mmrn1	G	A	6: 60,975,976	V414M	possibly damaging	Het
Mon2	C	A	10: 123,032,695	M484I	probably benign	Het
Nae1	A	T	8: 104,527,402	D99E	probably benign	Het
Nudt12	C	A	17: 59,007,749	R280L	probably damaging	Het
Olfr365	T	C	2: 37,201,766	V175A	possibly damaging	Het
P2ry1	T	A	3: 61,004,175	I245N	probably damaging	Het
Plch1	C	T	3: 63,702,023	R912H	probably damaging	Het
Plek	T	A	11: 16,990,058	Y217F	probably damaging	Het
Plpp1	A	T	13: 112,866,865	I208F	possibly damaging	Het
Ptges3-ps	C	T	6: 85,844,555		noncoding transcript	Het
Ptprf	A	G	4: 118,223,256	L1267P	probably benign	Het
Ptprz1	A	T	6: 23,045,659	S2143C	probably damaging	Het
Scn9a	T	C	2: 66,484,049	D1764G	probably damaging	Het
Serpinb5	T	A	1: 106,881,728	L288Q	probably damaging	Het
Slc6a20b	T	G	9: 123,596,186	M539L	probably benign	Het
Slfnl1	A	G	4: 120,533,361	T70A	probably benign	Het
Smtn	C	A	11: 3,529,608	L486F	probably damaging	Het
Sptbn2	G	A	19: 4,731,392		probably null	Het
Tas2r144	C	A	6: 42,215,757	L144I	possibly damaging	Het
Tjp3	C	T	10: 81,281,146	R183K	probably benign	Het
Tnip3	A	G	6: 65,525,411		probably null	Het
Tspan12	T	A	6: 21,772,771	M212L	probably benign	Het
Ttn	T	A	2: 76,878,041		probably benign	Het
Vmn1r71	T	C	7: 10,748,618	M48V	probably benign	Het
Vmn2r10	A	G	5: 108,995,801	F761S	probably damaging	Het
Vmn2r106	G	A	17: 20,268,376	P587L	probably benign	Het
Wdr72	A	G	9: 74,151,668	T348A	probably damaging	Het
Xrn1	A	T	9: 95,974,427	L333F	possibly damaging	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
R0079:Nsun7	UTSW	5	66295513	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
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

Predicted Primers

PCR Primer
(F):5'- CTCTTGCACCGAGAAAGCAAG -3'
(R):5'- ACAGTCAGAGCCATGGTCTAG -3'

Sequencing Primer
(F):5'- CTCTTGCACCGAGAAAGCAAGATAAG -3'
(R):5'- GAGGAAGTTGTGCTCTCCTTAACC -3'

Posted On

2017-08-16