Mutagenetix > Incidental Mutation

Incidental Mutation 'R6925:Nsun7'

541074

Institutional Source

Beutler Lab

Gene Symbol

Nsun7

Ensembl Gene

ENSMUSG00000029206

Gene Name

NOL1/NOP2/Sun domain family, member 7

Synonyms

4921525L17Rik

MMRRC Submission

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6925 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

66259897-66298026 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 66277072 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Arginine at position 252 (H252R)

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: H252R

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000031109
Gene: ENSMUSG00000029206
AA Change: H252R

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: H252R

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000144520
Gene: ENSMUSG00000029206
AA Change: H252R

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: H252R

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

SMART Domains

Protein: ENSMUSP00000144498
Gene: ENSMUSG00000029206
AA Change: H252R

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

0.1473

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.4%
20x: 98.0%

Validation Efficiency

100% (91/91)

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: 90 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
5430419D17Rik	A	G	7: 131,222,707	Q177R	possibly damaging	Het
Acat1	A	T	9: 53,592,029	V170E	probably benign	Het
Atp2b2	T	A	6: 113,760,720	I902F	probably damaging	Het
Cacna1d	A	G	14: 30,051,637	V1697A	probably benign	Het
Ccdc14	T	A	16: 34,690,749	F31Y	probably benign	Het
Ccdc17	T	A	4: 116,598,210	V250E	probably damaging	Het
Cct7	A	G	6: 85,459,182	N25S	probably damaging	Het
Cep19	G	C	16: 32,103,942	G9R	probably damaging	Het
Ces5a	A	T	8: 93,523,057		probably null	Het
Chd1l	T	G	3: 97,582,826	E471A	probably damaging	Het
Chd6	A	G	2: 161,013,127	I787T	probably damaging	Het
Cntnap5c	A	C	17: 58,395,266	T1194P	probably benign	Het
Col6a3	T	A	1: 90,816,002	M208L	probably benign	Het
Coro7	A	T	16: 4,628,674		probably null	Het
Csrnp2	T	C	15: 100,481,958	K484R	probably benign	Het
Cyp2c39	T	A	19: 39,513,195	V64E	probably damaging	Het
Ddr2	T	C	1: 169,998,132	K300E	probably benign	Het
Ddx56	T	C	11: 6,263,980	E393G	probably damaging	Het
Diaph1	A	C	18: 37,853,679	Y1084*	probably null	Het
Disp1	A	T	1: 183,086,478	F1459L	probably benign	Het
Dnajc8	G	A	4: 132,544,113	A80T	probably damaging	Het
Elfn1	T	A	5: 139,971,685	M148K	probably benign	Het
Emcn	T	A	3: 137,419,002	I154N	probably damaging	Het
Enah	C	G	1: 181,905,898		probably null	Het
Enah	T	A	1: 181,905,899		probably null	Het
Ep300	C	A	15: 81,649,981	Q2080K	probably benign	Het
Epha2	T	A	4: 141,308,757	M168K	probably benign	Het
Ercc6	T	A	14: 32,562,608	I776N	probably damaging	Het
Fan1	T	A	7: 64,372,486	N340Y	probably damaging	Het
Fat4	G	T	3: 38,996,204		probably null	Het
G3bp1	A	G	11: 55,497,960	R333G	possibly damaging	Het
Gm3604	A	G	13: 62,369,390	F385L	probably benign	Het
Gm5800	T	C	14: 51,713,700	I147M	possibly damaging	Het
Hipk1	A	G	3: 103,778,245	F18S	unknown	Het
Ighv3-8	A	T	12: 114,322,330	C131S	probably benign	Het
Il23r	T	G	6: 67,423,493	T618P	probably damaging	Het
Il31ra	G	A	13: 112,527,529	T538I	possibly damaging	Het
Kcns2	A	G	15: 34,839,913	D474G	unknown	Het
Klc4	T	C	17: 46,636,229	T407A	possibly damaging	Het
Klra5	C	T	6: 129,911,457	S2N	probably benign	Het
Krt10	T	C	11: 99,388,851	Y161C	probably damaging	Het
Kxd1	A	T	8: 70,523,278	M1K	probably null	Het
Lgals1	A	C	15: 78,928,040	D27A	possibly damaging	Het
Lgr5	T	C	10: 115,466,346	S308G	probably benign	Het
Lrp1	G	A	10: 127,556,988	S2736L	probably benign	Het
Lrpap1	G	T	5: 35,102,536	H73N	probably benign	Het
Mcpt1	C	A	14: 56,019,065	T86K	probably damaging	Het
Megf6	A	T	4: 154,254,587	D527V	probably damaging	Het
Mical3	A	T	6: 120,959,390	S1392T	probably benign	Het
Mmp2	A	T	8: 92,839,382	D437V	probably damaging	Het
Mob4	T	A	1: 55,152,722	Y166*	probably null	Het
Mrap2	G	A	9: 87,182,474	M89I	possibly damaging	Het
Mug1	G	A	6: 121,881,787	A1155T	probably damaging	Het
Myh2	G	T	11: 67,193,218	A1556S	probably benign	Het
Nfatc3	A	G	8: 106,119,322	D1028G	probably benign	Het
Ngef	T	G	1: 87,503,263		probably null	Het
Nlrp1a	A	T	11: 71,092,513	L1209Q	probably null	Het
Npr2	C	T	4: 43,647,553	R819C	probably damaging	Het
Nsd2	A	T	5: 33,879,110	D646V	probably damaging	Het
Olfr267	A	T	4: 58,785,647	I25N	possibly damaging	Het
Olfr447	T	A	6: 42,911,857	C111*	probably null	Het
Olfr642	C	T	7: 104,049,740	V205I	probably benign	Het
Olfr951	A	T	9: 39,393,860	Q20L	probably benign	Het
Olfr951	G	T	9: 39,393,861	Q20H	probably benign	Het
Pcdhga2	A	T	18: 37,670,585	D494V	probably damaging	Het
Pcsk2	A	G	2: 143,813,747	E617G	probably damaging	Het
Pdc	T	C	1: 150,333,180	I138T	probably damaging	Het
Phc2	T	A	4: 128,748,134	S750T	probably damaging	Het
Pkd2l1	T	A	19: 44,191,508	N88Y	possibly damaging	Het
Plcl1	C	T	1: 55,406,598	R71*	probably null	Het
Prag1	C	A	8: 36,103,894	L544M	probably damaging	Het
Prkg2	A	G	5: 98,966,510		probably null	Het
Psd2	G	A	18: 35,979,711	S153N	probably damaging	Het
Rab11fip1	A	T	8: 27,152,972	S600T	probably damaging	Het
Rbms1	T	G	2: 60,762,304	T222P	probably benign	Het
Slfn8	A	T	11: 83,013,417	Y382*	probably null	Het
Socs4	T	A	14: 47,289,738	C43*	probably null	Het
Sorl1	T	A	9: 42,033,626	T868S	probably damaging	Het
St6gal1	A	G	16: 23,356,213	Y267C	probably damaging	Het
Syne1	A	G	10: 5,126,682	V6879A	probably benign	Het
Syne2	C	A	12: 75,854,132	H22N	possibly damaging	Het
Tmeff2	T	A	1: 50,928,021	L25Q	probably damaging	Het
Tmprss11g	G	T	5: 86,487,426	D396E	probably benign	Het
Tmprss11g	T	A	5: 86,487,436	H393L	probably benign	Het
Vmn2r23	A	G	6: 123,704,553	E140G	probably damaging	Het
Wapl	T	C	14: 34,677,363	S130P	probably benign	Het
Zeb2	T	A	2: 44,994,529	K982M	probably damaging	Het
Zfhx3	C	G	8: 108,956,821	H3631D	unknown	Het
Zfp719	T	C	7: 43,590,706	S573P	probably damaging	Het
Zfp979	A	T	4: 147,613,542	C237S	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
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
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'- TGCACAGTGATGCATTGTAGC -3'
(R):5'- ACGCACTTTATTCGAGGGGAC -3'

Sequencing Primer
(F):5'- ATTCATTTGAGTGCACCC -3'
(R):5'- GGGCTTTTAAATCCCCCTGAGG -3'

Posted On

2018-11-28