Mutagenetix > Incidental Mutation

Incidental Mutation 'R7276:Nsun7'

565569

Institutional Source

Beutler Lab

Gene Symbol

Nsun7

Ensembl Gene

ENSMUSG00000029206

Gene Name

NOL1/NOP2/Sun domain family, member 7

Synonyms

4921525L17Rik

MMRRC Submission

045359-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7276 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

66417240-66455369 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 66434484 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 275 (D275G)

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 benign
Transcript: ENSMUST00000031109
AA Change: D275G

PolyPhen 2 Score 0.015 (Sensitivity: 0.96; Specificity: 0.79)

SMART Domains

Protein: ENSMUSP00000031109
Gene: ENSMUSG00000029206
AA Change: D275G

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: ENSMUST00000201100
AA Change: D275G

PolyPhen 2 Score 0.015 (Sensitivity: 0.96; Specificity: 0.79)

SMART Domains

Protein: ENSMUSP00000144520
Gene: ENSMUSG00000029206
AA Change: D275G

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: D275G

PolyPhen 2 Score 0.026 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000144498
Gene: ENSMUSG00000029206
AA Change: D275G

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

0.0746

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.0%

Validation Efficiency

100% (74/74)

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: 72 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930455H04Rik	T	C	3: 116,762,227 (GRCm39)	V26A	unknown	Het
4930546C10Rik	C	T	18: 69,083,093 (GRCm39)	W40*	probably null	Het
Abcc5	T	C	16: 20,195,258 (GRCm39)		probably null	Het
Adamts18	T	A	8: 114,501,896 (GRCm39)	M322L	probably damaging	Het
Ankrd44	T	A	1: 54,774,239 (GRCm39)	N406I	probably benign	Het
Arhgap35	T	G	7: 16,298,493 (GRCm39)	T191P	probably damaging	Het
Atg3	G	A	16: 44,982,805 (GRCm39)	E37K	possibly damaging	Het
Bbs1	A	T	19: 4,947,738 (GRCm39)		probably null	Het
BC048562	A	G	9: 108,322,435 (GRCm39)	N60D	probably damaging	Het
Btnl9	T	A	11: 49,066,617 (GRCm39)	I335F	probably benign	Het
C7	A	T	15: 5,041,449 (GRCm39)	C486S	probably damaging	Het
Cchcr1	C	A	17: 35,840,031 (GRCm39)	Q634K	possibly damaging	Het
Cd93	A	T	2: 148,283,660 (GRCm39)	V562E	probably damaging	Het
Cemip2	A	G	19: 21,812,824 (GRCm39)	I1010V	probably benign	Het
Cript	T	A	17: 87,341,696 (GRCm39)	Y50*	probably null	Het
Dnah14	T	A	1: 181,513,372 (GRCm39)	F1908L	probably benign	Het
Dnah5	A	G	15: 28,367,984 (GRCm39)	N2790D	probably damaging	Het
Eif3h	C	A	15: 51,728,717 (GRCm39)		probably null	Het
Ffar3	C	G	7: 30,555,273 (GRCm39)	V16L	possibly damaging	Het
Gcn1	C	T	5: 115,749,119 (GRCm39)	R1884W	probably damaging	Het
Gpatch1	T	A	7: 34,996,921 (GRCm39)	M426L	probably benign	Het
Hcn2	T	A	10: 79,564,934 (GRCm39)	Y449N	possibly damaging	Het
Hdac10	T	C	15: 89,012,488 (GRCm39)	T32A	probably benign	Het
Hykk	T	C	9: 54,853,502 (GRCm39)	Y275H	probably damaging	Het
Igfn1	G	C	1: 135,926,376 (GRCm39)	P25A	possibly damaging	Het
Jph1	T	C	1: 17,162,266 (GRCm39)	Q132R	probably damaging	Het
Kat2b	T	A	17: 53,931,450 (GRCm39)	D149E	probably damaging	Het
Knl1	A	T	2: 118,902,167 (GRCm39)	K1289N	probably damaging	Het
Lrrc37a	G	A	11: 103,347,572 (GRCm39)	S3041L	unknown	Het
Mtrex	A	T	13: 113,050,973 (GRCm39)	Y201N	probably benign	Het
Mtus2	C	T	5: 148,013,368 (GRCm39)	R54C	probably benign	Het
Myo1d	A	T	11: 80,583,898 (GRCm39)	I38N	probably damaging	Het
Nasp	A	G	4: 116,471,546 (GRCm39)	S94P	probably damaging	Het
Nfat5	C	A	8: 108,093,731 (GRCm39)	N657K	probably benign	Het
Ngfr	A	G	11: 95,465,170 (GRCm39)	L226P	probably benign	Het
Nos1	T	C	5: 118,048,303 (GRCm39)	S703P	probably damaging	Het
Oas1d	A	G	5: 121,054,944 (GRCm39)	N172S	possibly damaging	Het
Or11h4	A	G	14: 50,974,187 (GRCm39)	V144A	possibly damaging	Het
Or2y17	T	A	11: 49,231,821 (GRCm39)	M154K	probably benign	Het
Or4c11b	T	A	2: 88,625,025 (GRCm39)	F100I	probably damaging	Het
Or52e8	T	A	7: 104,624,857 (GRCm39)	M116L	possibly damaging	Het
Papss1	A	G	3: 131,324,995 (GRCm39)	E484G	probably benign	Het
Pcdh15	A	G	10: 74,160,224 (GRCm39)	D447G	probably benign	Het
Phkg2	A	G	7: 127,181,558 (GRCm39)	E247G	possibly damaging	Het
Pramel30	A	G	4: 144,059,216 (GRCm39)	E309G	possibly damaging	Het
Prelid2	T	C	18: 42,045,487 (GRCm39)	N141S	possibly damaging	Het
Psg18	T	C	7: 18,079,909 (GRCm39)	M431V	probably damaging	Het
Psmd12	A	T	11: 107,394,471 (GRCm39)	R397*	probably null	Het
Ralgds	G	A	2: 28,435,884 (GRCm39)	R503Q	probably damaging	Het
Rb1cc1	G	A	1: 6,319,416 (GRCm39)	C945Y	probably benign	Het
Rgs12	A	G	5: 35,183,715 (GRCm39)	D1026G	probably benign	Het
Scn7a	G	A	2: 66,587,506 (GRCm39)	P66S	probably damaging	Het
Supt16	T	C	14: 52,414,458 (GRCm39)	E448G	probably benign	Het
Syt16	C	T	12: 74,313,483 (GRCm39)	R470C	probably damaging	Het
Tas2r114	T	C	6: 131,666,310 (GRCm39)	I239M	probably damaging	Het
Tecpr1	C	T	5: 144,153,838 (GRCm39)	W138*	probably null	Het
Tex101	T	C	7: 24,369,829 (GRCm39)	N45S	probably damaging	Het
Tmx1	C	A	12: 70,512,917 (GRCm39)	T275K	possibly damaging	Het
Trappc8	T	G	18: 20,951,148 (GRCm39)	I1434L	probably damaging	Het
Trappc9	G	T	15: 72,924,119 (GRCm39)	H208N	probably damaging	Het
Trcg1	T	A	9: 57,149,862 (GRCm39)	L478Q	probably damaging	Het
Trim42	G	T	9: 97,251,625 (GRCm39)	Y91*	probably null	Het
Vmn2r114	A	G	17: 23,509,934 (GRCm39)	S849P	probably damaging	Het
Vmn2r120	T	C	17: 57,831,881 (GRCm39)	T303A	probably benign	Het
Vmn2r13	A	G	5: 109,321,645 (GRCm39)	W351R	probably damaging	Het
Vmn2r53	T	C	7: 12,340,359 (GRCm39)	D38G	probably damaging	Het
Vsig8	C	A	1: 172,390,850 (GRCm39)	C411*	probably null	Het
Vwce	A	T	19: 10,641,538 (GRCm39)	T755S	possibly damaging	Het
Wwp1	T	C	4: 19,611,782 (GRCm39)	S897G	probably damaging	Het
Zfp111	C	A	7: 23,898,978 (GRCm39)	C212F	probably damaging	Het
Zfp385b	G	T	2: 77,280,624 (GRCm39)	H193N	probably damaging	Het
Zfp811	T	C	17: 33,017,755 (GRCm39)	E95G	probably benign	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
R7216:Nsun7	UTSW	5	66,436,000 (GRCm39)	missense	probably damaging	1.00
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'- GCACAGTGATGCATTGTAGC -3'
(R):5'- CTGGAGGCCTGATGGTAATG -3'

Sequencing Primer
(F):5'- TGTTAAATTCATTTGAGTGCACCC -3'
(R):5'- CCTGATGGTAATGAAAACGGTGGC -3'

Posted On

2019-06-26