Mutagenetix > Incidental Mutation

Incidental Mutation 'R1981:Nsun7'

222280

Institutional Source

Beutler Lab

Gene Symbol

Nsun7

Ensembl Gene

ENSMUSG00000029206

Gene Name

NOL1/NOP2/Sun domain family, member 7

Synonyms

4921525L17Rik

MMRRC Submission

039993-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1981 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

66259897-66298026 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 66261214 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 96 (S96P)

Ref Sequence

ENSEMBL: ENSMUSP00000144520 (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: S96P

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000031109
Gene: ENSMUSG00000029206
AA Change: S96P

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: ENSMUST00000113720
AA Change: S96P

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000109349
Gene: ENSMUSG00000029206
AA Change: S96P

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

noncoding transcript
Transcript: ENSMUST00000200891

Predicted Effect

probably damaging
Transcript: ENSMUST00000201100
AA Change: S96P

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000144520
Gene: ENSMUSG00000029206
AA Change: S96P

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: S96P

PolyPhen 2 Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000144498
Gene: ENSMUSG00000029206
AA Change: S96P

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

0.3043

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.9%
20x: 94.6%

Validation Efficiency

99% (80/81)

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: 80 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930415L06Rik	A	T	X: 89,931,445	V382E	probably damaging	Het
Anks1	T	C	17: 27,985,121	V181A	probably damaging	Het
Aqp4	T	C	18: 15,393,551	D291G	probably damaging	Het
Atad1	G	T	19: 32,695,810	D224E	probably benign	Het
Atp1a3	T	G	7: 25,000,975	E33A	probably benign	Het
Baz2b	A	G	2: 59,923,680	F1100L	possibly damaging	Het
Car7	C	T	8: 104,548,377		probably benign	Het
Casp8	C	A	1: 58,828,962		probably null	Het
Cdh23	A	T	10: 60,378,751	L1495H	probably damaging	Het
Ceacam9	T	G	7: 16,725,307	L177R	probably benign	Het
Col16a1	C	G	4: 130,065,443	P346A	unknown	Het
Cyp2c29	A	G	19: 39,307,772		probably null	Het
Cyp3a13	T	C	5: 137,911,856	S139G	probably damaging	Het
Dapk2	A	G	9: 66,268,898	H327R	probably benign	Het
Ddx19b	T	C	8: 111,009,343	T357A	possibly damaging	Het
Dnah2	A	G	11: 69,474,325	Y1944H	probably damaging	Het
Dnaic2	T	A	11: 114,732,929	V6E	probably damaging	Het
Eipr1	T	C	12: 28,863,025	Y242H	probably damaging	Het
Fam149a	T	G	8: 45,381,741	D7A	probably damaging	Het
Fam217a	T	A	13: 34,916,754	D140V	probably benign	Het
Fat4	G	A	3: 38,991,664	C3944Y	probably damaging	Het
Fezf2	G	T	14: 12,344,405	P261T	probably benign	Het
Gcsam	A	T	16: 45,619,974	T127S	probably damaging	Het
Git2	C	T	5: 114,749,559		probably benign	Het
Gm1527	T	C	3: 28,915,835		probably null	Het
Gm7030	T	A	17: 36,128,722	D122V	probably damaging	Het
Gtf3c1	A	G	7: 125,644,272	L1720P	possibly damaging	Het
Hat1	A	G	2: 71,389,977	T28A	probably benign	Het
Igf2r	G	A	17: 12,733,903	Q219*	probably null	Het
Impdh1	T	A	6: 29,206,451	D129V	possibly damaging	Het
Kcnh8	GAGACCAACGAGCAGCTGATGCTTCAGA	GAGA	17: 52,725,906	74	probably benign	Het
Ltbp3	A	G	19: 5,758,079	Q1250R	probably benign	Het
Mansc4	T	A	6: 147,075,675	I148F	probably benign	Het
Mast2	T	C	4: 116,314,840	Y569C	probably damaging	Het
Mcoln3	A	T	3: 146,140,590	K552*	probably null	Het
Mctp2	T	C	7: 72,164,698	Q601R	probably benign	Het
Mei1	A	G	15: 82,103,312	N859S	probably benign	Het
Myo19	A	T	11: 84,892,170	Q170L	possibly damaging	Het
Myo1h	T	C	5: 114,353,837	F676S	probably damaging	Het
Myo9a	A	G	9: 59,894,146	T1876A	probably benign	Het
Nav3	G	T	10: 109,719,090		probably benign	Het
Ndor1	T	C	2: 25,255,224	Y43C	probably damaging	Het
Nlrp1a	A	G	11: 71,098,938	V1102A	probably damaging	Het
Nmnat3	T	C	9: 98,410,299	I199T	possibly damaging	Het
Ntng1	A	G	3: 109,935,010	V149A	possibly damaging	Het
Oas3	T	C	5: 120,761,835		probably benign	Het
Olfr1055	A	T	2: 86,347,142	I208N	possibly damaging	Het
Olfr1297	T	A	2: 111,621,241	I278F	probably benign	Het
Olfr1350	A	G	7: 6,570,558	D189G	probably benign	Het
Olfr1418	T	G	19: 11,855,007	Q315H	possibly damaging	Het
Olfr147	T	C	9: 38,403,735	L287P	probably damaging	Het
Olfr5	T	C	7: 6,480,932	M75V	probably benign	Het
Pax2	G	A	19: 44,818,465	D301N	probably damaging	Het
Pcsk4	T	A	10: 80,325,779	E176V	probably damaging	Het
Pkhd1	G	A	1: 20,117,060	P3675S	probably benign	Het
Plekho2	A	T	9: 65,558,692	L138Q	probably damaging	Het
Prkcsh	A	G	9: 22,012,868	D458G	probably damaging	Het
Prr11	T	A	11: 87,103,290	D100V	probably damaging	Het
Qars	A	G	9: 108,515,028	N136D	probably damaging	Het
Rbm15b	A	G	9: 106,881,623		probably benign	Het
Rel	C	T	11: 23,742,761	G424D	probably benign	Het
Rsrc1	A	G	3: 67,350,005	D250G	probably benign	Het
Samt3	A	C	X: 86,047,134	M211L	probably benign	Het
Scn2a	C	A	2: 65,690,170	N503K	probably damaging	Het
Sh2d6	G	A	6: 72,517,544		probably benign	Het
Smg8	T	C	11: 87,085,331	T475A	probably benign	Het
Ssxb10	A	G	X: 8,331,019	D77G	probably benign	Het
Tbx20	T	A	9: 24,770,913	K48N	possibly damaging	Het
Tead1	C	A	7: 112,891,745	D231E	probably benign	Het
Ticam1	C	T	17: 56,271,555	R180H	probably damaging	Het
Tjp1	A	T	7: 65,312,855	F1111L	probably damaging	Het
Tlr11	T	A	14: 50,361,988	I477K	possibly damaging	Het
Ttc13	A	G	8: 124,714,187		probably null	Het
Ttc17	T	C	2: 94,326,704	N411S	probably benign	Het
Usp15	T	A	10: 123,125,041		probably benign	Het
Usp18	A	G	6: 121,252,517	K32E	probably benign	Het
Vmn1r12	A	T	6: 57,159,661	M248L	probably benign	Het
Zbtb14	C	A	17: 69,388,502	F398L	probably damaging	Het
Zfp930	T	A	8: 69,228,172	L172H	probably damaging	Het
Zfp976	G	A	7: 42,613,622	H264Y	probably 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
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'- AACTCTTCAACCGTCGTCCTAG -3'
(R):5'- ACATATGTTTGAGGAGCTAGGC -3'

Sequencing Primer
(F):5'- TCTTCAACCGTCGTCCTAGAAAAAC -3'
(R):5'- GGAGCTAGGCTGCATTCCATTAATTC -3'

Posted On

2014-08-25