Mutagenetix > Incidental Mutation

Incidental Mutation 'R7216:Nsun7'

561451

Institutional Source

Beutler Lab

Gene Symbol

Nsun7

Ensembl Gene

ENSMUSG00000029206

Gene Name

NOL1/NOP2/Sun domain family, member 7

Synonyms

4921525L17Rik

MMRRC Submission

045288-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7216 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

66417240-66455369 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 66436000 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 291 (S291P)

Ref Sequence

ENSEMBL: ENSMUSP00000144498 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000031109] [ENSMUST00000201100] [ENSMUST00000202994]

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000031109
AA Change: S291P

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000031109
Gene: ENSMUSG00000029206
AA Change: S291P

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 damaging
Transcript: ENSMUST00000201100
AA Change: S291P

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000144520
Gene: ENSMUSG00000029206
AA Change: S291P

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 damaging
Transcript: ENSMUST00000202994
AA Change: S291P

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000144498
Gene: ENSMUSG00000029206
AA Change: S291P

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: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

Validation Efficiency

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: 88 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Akap6	T	A	12: 53,187,240 (GRCm39)	N1551K	probably benign	Het
Amy2a1	T	C	3: 113,324,090 (GRCm39)	D150G	possibly damaging	Het
Atp2b1	T	A	10: 98,822,839 (GRCm39)	C165S	probably benign	Het
Atp2c1	A	T	9: 105,344,930 (GRCm39)	D102E	probably benign	Het
Capn8	C	A	1: 182,426,363 (GRCm39)	R233S	possibly damaging	Het
Cd48	T	C	1: 171,523,390 (GRCm39)	S78P	probably damaging	Het
Clasp1	T	A	1: 118,475,648 (GRCm39)	D944E	probably benign	Het
Clip2	A	G	5: 134,531,771 (GRCm39)	M678T	probably benign	Het
Clmp	T	C	9: 40,672,205 (GRCm39)	Y12H	possibly damaging	Het
Col22a1	A	T	15: 71,845,694 (GRCm39)	V356D	probably damaging	Het
Copg2	A	T	6: 30,862,535 (GRCm39)	D101E	probably damaging	Het
Cpsf6	G	A	10: 117,197,928 (GRCm39)	P229S	unknown	Het
Dgke	T	C	11: 88,941,163 (GRCm39)	D340G	probably benign	Het
Dlg1	TAAA	TAA	16: 31,615,736 (GRCm39)		probably null	Het
Dlg5	G	A	14: 24,186,706 (GRCm39)	Q1865*	probably null	Het
Dnajc2	C	T	5: 21,981,777 (GRCm39)	R123Q	probably damaging	Het
Efcab3	A	T	11: 104,771,375 (GRCm39)	K2633N	possibly damaging	Het
Egln2	T	C	7: 26,859,254 (GRCm39)	D365G	probably damaging	Het
Epha4	T	C	1: 77,421,621 (GRCm39)	D287G	probably damaging	Het
Fat4	A	G	3: 38,945,192 (GRCm39)	T1362A	probably damaging	Het
Flt4	A	G	11: 49,525,508 (GRCm39)	T685A	possibly damaging	Het
Fras1	T	C	5: 96,887,173 (GRCm39)	Y2652H	probably damaging	Het
Gas2	A	G	7: 51,547,005 (GRCm39)	E52G	possibly damaging	Het
Gm5093	A	T	17: 46,751,014 (GRCm39)	D4E	not run	Het
Gm6370	A	T	5: 146,430,723 (GRCm39)	T303S	probably benign	Het
Gpr161	A	G	1: 165,134,115 (GRCm39)	I126V	probably benign	Het
Gpr63	T	C	4: 25,008,038 (GRCm39)	L254P	probably damaging	Het
H2-M9	C	T	17: 36,951,594 (GRCm39)	V294I	probably benign	Het
Insr	T	A	8: 3,253,034 (GRCm39)	N375I	possibly damaging	Het
Ints1	T	C	5: 139,754,739 (GRCm39)	N600S	possibly damaging	Het
Ints10	A	G	8: 69,274,809 (GRCm39)	N628S	probably damaging	Het
Irf2	A	G	8: 47,246,591 (GRCm39)	T20A	probably benign	Het
Irs1	T	A	1: 82,267,476 (GRCm39)	T247S	probably damaging	Het
Islr	C	T	9: 58,064,250 (GRCm39)	S419N	unknown	Het
Kcna2	T	A	3: 107,012,109 (GRCm39)	I230N	probably damaging	Het
Kif3c	C	A	12: 3,416,126 (GRCm39)	A49E	probably benign	Het
Kifap3	A	T	1: 163,623,558 (GRCm39)	K108N	probably damaging	Het
Lama3	T	A	18: 12,563,057 (GRCm39)	F527I	probably damaging	Het
Layn	A	G	9: 50,988,352 (GRCm39)		probably benign	Het
Lims2	G	T	18: 32,090,315 (GRCm39)	W276L	probably damaging	Het
Lsp1	T	C	7: 142,042,179 (GRCm39)	L133S	probably damaging	Het
Map3k6	T	G	4: 132,974,211 (GRCm39)	V536G	probably damaging	Het
Med7	T	A	11: 46,331,681 (GRCm39)	L92H	probably damaging	Het
Mllt1	A	G	17: 57,234,042 (GRCm39)	V48A	probably damaging	Het
Mtcl2	T	C	2: 156,860,290 (GRCm39)	R1650G	possibly damaging	Het
Neurl4	T	A	11: 69,801,088 (GRCm39)	V1153E	probably damaging	Het
Nkx2-1	A	C	12: 56,581,587 (GRCm39)	C87G	probably damaging	Het
Or10n1	A	T	9: 39,525,790 (GRCm39)	Q309L	probably benign	Het
Or13a18	A	T	7: 140,190,373 (GRCm39)	N90I	possibly damaging	Het
Or1p1c	A	T	11: 74,160,550 (GRCm39)	I112F	probably damaging	Het
Or4e1	G	A	14: 52,700,945 (GRCm39)	P174S	probably damaging	Het
Or7g17	T	A	9: 18,768,632 (GRCm39)	M237K	probably benign	Het
Pals1	G	A	12: 78,844,006 (GRCm39)	R70H	probably damaging	Het
Pbrm1	A	G	14: 30,767,379 (GRCm39)	Y331C	possibly damaging	Het
Pirb	T	A	7: 3,719,273 (GRCm39)	T539S	probably benign	Het
Plch2	T	G	4: 155,068,685 (GRCm39)	T1314P	probably benign	Het
Polk	T	C	13: 96,644,728 (GRCm39)	S133G	probably benign	Het
Pramel27	A	G	4: 143,578,399 (GRCm39)	I220V	probably damaging	Het
Prdm5	A	T	6: 65,904,967 (GRCm39)	K533*	probably null	Het
Prmt1	T	A	7: 44,632,997 (GRCm39)	Q35H	probably benign	Het
Pum3	A	T	19: 27,401,625 (GRCm39)	W142R	probably damaging	Het
Rest	G	A	5: 77,430,455 (GRCm39)	R958H	probably benign	Het
Rictor	C	T	15: 6,798,782 (GRCm39)	T343M	probably damaging	Het
Ripor2	G	A	13: 24,855,886 (GRCm39)	G109R	probably damaging	Het
Sec62	C	T	3: 30,872,978 (GRCm39)	Q354*	probably null	Het
Snx14	T	C	9: 88,263,844 (GRCm39)	Y847C	probably damaging	Het
Sox7	A	T	14: 64,185,438 (GRCm39)	D158V	probably benign	Het
Spag8	A	G	4: 43,652,034 (GRCm39)	V350A	possibly damaging	Het
Syngr1	A	T	15: 79,995,934 (GRCm39)	I158F	probably damaging	Het
Tacstd2	C	A	6: 67,511,979 (GRCm39)	V238L	probably benign	Het
Tex15	T	C	8: 34,063,014 (GRCm39)	S815P	possibly damaging	Het
Tmem117	A	T	15: 94,612,793 (GRCm39)	T110S	possibly damaging	Het
Tnrc6a	T	C	7: 122,770,718 (GRCm39)	I836T	probably benign	Het
Trim30b	C	A	7: 104,006,569 (GRCm39)	V96L	probably benign	Het
Tssk3	TGCTATCATGGGG	TG	4: 129,383,106 (GRCm39)		probably null	Het
Tyk2	G	T	9: 21,031,822 (GRCm39)	H418N	probably benign	Het
Uap1	G	T	1: 169,986,472 (GRCm39)	T170K	probably damaging	Het
Vmn1r40	T	C	6: 89,691,606 (GRCm39)	V141A	not run	Het
Vmn1r54	T	A	6: 90,246,647 (GRCm39)	I187K	probably damaging	Het
Vmp1	C	T	11: 86,492,859 (GRCm39)	V317M	probably damaging	Het
Wnt8b	A	G	19: 44,500,511 (GRCm39)	K366R	probably benign	Het
Zfp207	C	T	11: 80,286,004 (GRCm39)	P415L	unknown	Het
Zfp263	A	G	16: 3,562,435 (GRCm39)	E66G	probably damaging	Het
Zfp764l1	A	G	7: 126,990,695 (GRCm39)	S431P	probably benign	Het
Zfp985	T	A	4: 147,667,913 (GRCm39)	H260Q	probably damaging	Het
Zmiz1	GCC	GC	14: 25,576,624 (GRCm39)		probably null	Het
Zmiz1	A	G	14: 25,576,633 (GRCm39)	R47G	probably damaging	Het
Zmiz1	A	C	14: 25,576,631 (GRCm39)	Q46P	probably damaging	Het

Other mutations in Nsun7

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00960:Nsun7	APN	5	66,446,846 (GRCm39)	missense	probably benign	0.00
IGL01013:Nsun7	APN	5	66,440,944 (GRCm39)	missense	possibly damaging	0.87
IGL01355:Nsun7	APN	5	66,452,211 (GRCm39)	missense	probably damaging	1.00
IGL01768:Nsun7	APN	5	66,436,043 (GRCm39)	missense	probably benign	0.11
IGL01914:Nsun7	APN	5	66,433,977 (GRCm39)	missense	probably damaging	1.00
IGL01990:Nsun7	APN	5	66,418,416 (GRCm39)	missense	probably damaging	1.00
IGL02477:Nsun7	APN	5	66,433,992 (GRCm39)	missense	probably damaging	0.99
R0071:Nsun7	UTSW	5	66,421,388 (GRCm39)	missense	probably benign	0.00
R0071:Nsun7	UTSW	5	66,421,388 (GRCm39)	missense	probably benign	0.00
R0079:Nsun7	UTSW	5	66,452,856 (GRCm39)	missense	probably benign	0.00
R0255:Nsun7	UTSW	5	66,446,751 (GRCm39)	splice site	probably benign
R0503:Nsun7	UTSW	5	66,440,924 (GRCm39)	splice site	probably benign
R0540:Nsun7	UTSW	5	66,440,977 (GRCm39)	missense	probably damaging	0.98
R1416:Nsun7	UTSW	5	66,418,423 (GRCm39)	missense	probably damaging	0.98
R1471:Nsun7	UTSW	5	66,441,572 (GRCm39)	missense	probably benign	0.00
R1942:Nsun7	UTSW	5	66,441,588 (GRCm39)	missense	probably benign	0.00
R1981:Nsun7	UTSW	5	66,418,557 (GRCm39)	missense	probably damaging	0.99
R2037:Nsun7	UTSW	5	66,418,429 (GRCm39)	missense	probably benign	0.06
R2098:Nsun7	UTSW	5	66,441,055 (GRCm39)	missense	probably damaging	0.98
R2226:Nsun7	UTSW	5	66,418,562 (GRCm39)	nonsense	probably null
R2996:Nsun7	UTSW	5	66,452,897 (GRCm39)	missense	probably benign	0.01
R3882:Nsun7	UTSW	5	66,435,983 (GRCm39)	missense	probably damaging	0.99
R4678:Nsun7	UTSW	5	66,418,407 (GRCm39)	missense	probably benign	0.00
R4681:Nsun7	UTSW	5	66,418,542 (GRCm39)	missense	probably benign	0.00
R4997:Nsun7	UTSW	5	66,453,182 (GRCm39)	missense	probably benign	0.02
R6108:Nsun7	UTSW	5	66,453,142 (GRCm39)	missense	probably damaging	0.99
R6465:Nsun7	UTSW	5	66,452,929 (GRCm39)	missense	probably benign	0.35
R6500:Nsun7	UTSW	5	66,452,827 (GRCm39)	missense	probably benign	0.11
R6746:Nsun7	UTSW	5	66,441,080 (GRCm39)	critical splice donor site	probably null
R6925:Nsun7	UTSW	5	66,434,415 (GRCm39)	missense	probably damaging	1.00
R7032:Nsun7	UTSW	5	66,421,378 (GRCm39)	missense	probably benign	0.02
R7084:Nsun7	UTSW	5	66,452,764 (GRCm39)	missense	probably damaging	1.00
R7098:Nsun7	UTSW	5	66,418,326 (GRCm39)	missense	probably damaging	0.98
R7276:Nsun7	UTSW	5	66,434,484 (GRCm39)	missense	probably benign	0.03
R7803:Nsun7	UTSW	5	66,433,884 (GRCm39)	nonsense	probably null
R8877:Nsun7	UTSW	5	66,453,294 (GRCm39)	nonsense	probably null
R9167:Nsun7	UTSW	5	66,435,994 (GRCm39)	missense	possibly damaging	0.95
R9222:Nsun7	UTSW	5	66,418,366 (GRCm39)	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- ACTAAACCGTAGACATAATCGGGG -3'
(R):5'- GGCGCATACTTTGACATCCC -3'

Sequencing Primer
(F):5'- TTGTTGCCTTCCAGGTAGAC -3'
(R):5'- CATTCTTGTAAAAAGTTTCCTCGC -3'

Posted On

2019-06-26