Mutagenetix > Incidental Mutation

Incidental Mutation 'R0102:Nanos3'

63296

Institutional Source

Beutler Lab

Gene Symbol

Nanos3

Ensembl Gene

ENSMUSG00000056155

Gene Name

nanos C2HC-type zinc finger 3

Synonyms

nos3

MMRRC Submission

038388-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.731) question?

Stock #

R0102 (G1)

Quality Score

Status

Validated

Chromosome

Chromosomal Location

84900359-84911396 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 84902763 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Glutamine at position 133 (R133Q)

Ref Sequence

ENSEMBL: ENSMUSP00000147775 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000070102] [ENSMUST00000093375] [ENSMUST00000118856] [ENSMUST00000210202]

AlphaFold

P60324

Predicted Effect

probably damaging
Transcript: ENSMUST00000070102
AA Change: R133Q

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

SMART Domains

Protein: ENSMUSP00000067385
Gene: ENSMUSG00000056155
AA Change: R133Q

Domain	Start	End	E-Value	Type
low complexity region	32	54	N/A	INTRINSIC
Pfam:zf-nanos	57	110	1.2e-28	PFAM
low complexity region	157	178	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000083549

Predicted Effect

probably benign
Transcript: ENSMUST00000093375

SMART Domains

Protein: ENSMUSP00000091067
Gene: ENSMUSG00000008129

Domain	Start	End	E-Value	Type
low complexity region	226	241	N/A	INTRINSIC
low complexity region	291	306	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000102383

Predicted Effect

probably benign
Transcript: ENSMUST00000118856

SMART Domains

Protein: ENSMUSP00000113651
Gene: ENSMUSG00000008129

Domain	Start	End	E-Value	Type
Pfam:DUF4671	1	193	2.1e-62	PFAM
Pfam:DUF4671	181	600	7.3e-131	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000210202
AA Change: R133Q

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000211482

Meta Mutation Damage Score

0.1597

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 96.5%
20x: 91.8%

Validation Efficiency

98% (65/66)

MGI Phenotype

PHENOTYPE: Homozygous inactivation of this locus results in both male and female infertility. Both male and female gonads are reduced in size and are devoid of germ cells, putatively due to impaired maintainence of primordial germ cells. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110002E22Rik	A	G	3: 137,773,874 (GRCm39)	K1021R	probably damaging	Het
2610528J11Rik	G	A	4: 118,386,762 (GRCm39)	V36M	probably damaging	Het
4930402F06Rik	T	A	2: 35,265,795 (GRCm39)	R292*	probably null	Het
Abcb4	T	C	5: 8,959,194 (GRCm39)	F207S	probably damaging	Het
Afap1l2	G	T	19: 56,916,872 (GRCm39)		probably benign	Het
Arfgef2	A	T	2: 166,687,385 (GRCm39)	H203L	probably benign	Het
Cfi	A	C	3: 129,642,416 (GRCm39)	H90P	probably damaging	Het
Col1a2	T	A	6: 4,520,775 (GRCm39)	S371T	possibly damaging	Het
Cyp2d10	C	T	15: 82,288,794 (GRCm39)	M229I	probably benign	Het
Dnah5	A	G	15: 28,245,897 (GRCm39)		probably benign	Het
Dnttip2	G	T	3: 122,069,452 (GRCm39)	M222I	probably benign	Het
Dync1li2	A	T	8: 105,154,757 (GRCm39)	Y284N	probably benign	Het
Ebf1	T	C	11: 44,882,282 (GRCm39)	Y413H	probably benign	Het
Exog	A	G	9: 119,281,319 (GRCm39)	T186A	possibly damaging	Het
Fam171a2	T	C	11: 102,334,939 (GRCm39)	N66S	possibly damaging	Het
Gad1	G	A	2: 70,417,583 (GRCm39)		probably null	Het
Golgb1	C	A	16: 36,695,830 (GRCm39)		probably benign	Het
Gprc5a	A	T	6: 135,056,033 (GRCm39)	N160I	probably damaging	Het
Haus3	A	G	5: 34,323,258 (GRCm39)		probably null	Het
Klhl20	A	T	1: 160,918,015 (GRCm39)	C90*	probably null	Het
Krt84	T	A	15: 101,437,138 (GRCm39)	I342L	probably damaging	Het
Lifr	G	A	15: 7,208,373 (GRCm39)	D584N	probably damaging	Het
Lrp1b	G	A	2: 41,298,997 (GRCm39)		probably benign	Het
Lrtm1	T	A	14: 28,744,184 (GRCm39)		probably benign	Het
Med25	C	T	7: 44,534,904 (GRCm39)	V80I	possibly damaging	Het
Mest	A	G	6: 30,746,269 (GRCm39)	I279V	probably damaging	Het
Mki67	T	C	7: 135,315,532 (GRCm39)	R81G	probably benign	Het
Naa25	A	G	5: 121,573,632 (GRCm39)	D787G	possibly damaging	Het
Naaladl1	C	T	19: 6,162,534 (GRCm39)	P465S	probably damaging	Het
Necab3	G	A	2: 154,387,232 (GRCm39)	R302C	probably damaging	Het
Nsg1	A	T	5: 38,316,254 (GRCm39)	D32E	probably damaging	Het
Nuggc	A	G	14: 65,851,000 (GRCm39)	D290G	probably null	Het
Nup205	A	T	6: 35,202,715 (GRCm39)		probably benign	Het
Or11g27	T	A	14: 50,771,088 (GRCm39)	L73Q	probably damaging	Het
Or2w6	T	C	13: 21,842,905 (GRCm39)	D196G	probably damaging	Het
Or4a77	T	C	2: 89,486,999 (GRCm39)	N262S	probably benign	Het
Or4c111	T	C	2: 88,844,015 (GRCm39)	Y131C	probably damaging	Het
Or4f57	G	C	2: 111,790,942 (GRCm39)	Q159E	probably damaging	Het
Or8h10	A	T	2: 86,808,549 (GRCm39)	I197N	possibly damaging	Het
Otp	T	C	13: 95,013,663 (GRCm39)	V27A	probably benign	Het
Phip	A	T	9: 82,787,845 (GRCm39)		probably null	Het
Pon2	A	G	6: 5,289,091 (GRCm39)		probably benign	Het
Ppp1r12b	T	A	1: 134,763,637 (GRCm39)		probably null	Het
Ppp1r15b	A	G	1: 133,060,908 (GRCm39)	N475S	probably damaging	Het
Prrt3	A	T	6: 113,474,790 (GRCm39)	L144H	probably damaging	Het
Psmb7	A	G	2: 38,533,377 (GRCm39)	V50A	possibly damaging	Het
Sacs	T	A	14: 61,442,017 (GRCm39)	S1354R	probably damaging	Het
Sdcbp2	A	G	2: 151,425,884 (GRCm39)	T29A	probably benign	Het
Shbg	T	A	11: 69,508,415 (GRCm39)		probably benign	Het
Shcbp1	A	G	8: 4,794,452 (GRCm39)	I447T	probably damaging	Het
Tbc1d9b	T	C	11: 50,026,676 (GRCm39)	V48A	probably damaging	Het
Thbd	A	T	2: 148,248,903 (GRCm39)	C322S	probably damaging	Het
Tnfrsf21	C	T	17: 43,349,104 (GRCm39)	H239Y	probably benign	Het
Trappc12	A	T	12: 28,796,751 (GRCm39)	F260L	probably damaging	Het
Trim10	C	A	17: 37,181,074 (GRCm39)	H102N	probably damaging	Het
Ube2u	A	G	4: 100,407,122 (GRCm39)	T215A	possibly damaging	Het
Vcan	T	G	13: 89,851,787 (GRCm39)	T1058P	probably benign	Het

Other mutations in Nanos3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R0047:Nanos3	UTSW	8	84,902,763 (GRCm39)	missense	probably damaging	1.00
R0048:Nanos3	UTSW	8	84,902,763 (GRCm39)	missense	probably damaging	1.00
R0089:Nanos3	UTSW	8	84,902,763 (GRCm39)	missense	probably damaging	1.00
R0090:Nanos3	UTSW	8	84,902,763 (GRCm39)	missense	probably damaging	1.00
R0103:Nanos3	UTSW	8	84,902,763 (GRCm39)	missense	probably damaging	1.00
R0134:Nanos3	UTSW	8	84,902,763 (GRCm39)	missense	probably damaging	1.00
R0145:Nanos3	UTSW	8	84,902,763 (GRCm39)	missense	probably damaging	1.00
R0189:Nanos3	UTSW	8	84,902,763 (GRCm39)	missense	probably damaging	1.00
R0190:Nanos3	UTSW	8	84,902,763 (GRCm39)	missense	probably damaging	1.00
R0226:Nanos3	UTSW	8	84,902,763 (GRCm39)	missense	probably damaging	1.00
R0344:Nanos3	UTSW	8	84,902,763 (GRCm39)	missense	probably damaging	1.00
R0494:Nanos3	UTSW	8	84,902,763 (GRCm39)	missense	probably damaging	1.00
R8971:Nanos3	UTSW	8	84,902,815 (GRCm39)	missense	probably benign	0.14
R9128:Nanos3	UTSW	8	84,903,080 (GRCm39)	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- CCCAGTGGCAAACAGACATGAAATG -3'
(R):5'- TGCAAACACAATGGCGAGTCCC -3'

Sequencing Primer
(F):5'- TCTCTACTACCCTGTGCAATAAAGG -3'
(R):5'- TCCCATGTCCTGAAGGATGAG -3'

Posted On

2013-07-30