Mutagenetix > Incidental Mutation

Incidental Mutation 'R0344:Nanos3'

64970

Institutional Source

Beutler Lab

Gene Symbol

Nanos3

Ensembl Gene

ENSMUSG00000056155

Gene Name

nanos C2HC-type zinc finger 3

Synonyms

nos3

MMRRC Submission

038551-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.727) question?

Stock #

R0344 (G1)

Quality Score

225

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: 99.0%
3x: 98.2%
10x: 96.3%
20x: 93.6%

Validation Efficiency

99% (81/82)

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: 78 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930553J12Rik	T	A	16: 88,617,189 (GRCm39)	C29*	probably null	Het
Abca4	G	A	3: 121,877,613 (GRCm39)	C324Y	probably damaging	Het
Ablim2	T	G	5: 35,994,277 (GRCm39)		probably benign	Het
Abr	A	T	11: 76,369,870 (GRCm39)	V115E	probably damaging	Het
Adgrl2	C	T	3: 148,571,231 (GRCm39)		probably null	Het
Aff3	A	T	1: 38,243,013 (GRCm39)	S936T	probably benign	Het
Agap3	T	C	5: 24,656,200 (GRCm39)		probably benign	Het
Ahrr	T	A	13: 74,362,705 (GRCm39)	S393C	probably damaging	Het
Amfr	T	C	8: 94,713,998 (GRCm39)		probably null	Het
Ankrd26	C	A	6: 118,484,598 (GRCm39)		probably null	Het
Asxl3	G	A	18: 22,650,668 (GRCm39)	V886I	probably benign	Het
Atp5f1a	C	A	18: 77,867,895 (GRCm39)	N356K	probably damaging	Het
AU021092	A	T	16: 5,040,031 (GRCm39)	M31K	possibly damaging	Het
Bicral	A	G	17: 47,124,978 (GRCm39)		probably benign	Het
Btbd9	C	T	17: 30,493,916 (GRCm39)	D492N	possibly damaging	Het
C3ar1	T	C	6: 122,827,731 (GRCm39)	D162G	probably benign	Het
Camkk2	C	T	5: 122,901,940 (GRCm39)	C123Y	probably benign	Het
Casp8ap2	A	T	4: 32,644,079 (GRCm39)	I1051F	probably damaging	Het
Catsperg1	A	T	7: 28,894,965 (GRCm39)	V544E	probably damaging	Het
Cdc27	G	A	11: 104,417,817 (GRCm39)		probably benign	Het
Colec12	C	T	18: 9,858,921 (GRCm39)	P568L	unknown	Het
Dennd6b	T	C	15: 89,080,432 (GRCm39)	Q56R	probably benign	Het
Dmac2l	T	C	12: 69,787,663 (GRCm39)		probably benign	Het
Fbxl17	G	A	17: 63,692,062 (GRCm39)		probably benign	Het
Fubp1	T	C	3: 151,925,350 (GRCm39)	V164A	probably damaging	Het
Gdap2	G	A	3: 100,085,572 (GRCm39)	G165S	probably damaging	Het
Gns	A	G	10: 121,219,328 (GRCm39)	K352E	probably benign	Het
Gtf2ird2	C	T	5: 134,220,088 (GRCm39)	T22M	probably damaging	Het
Herc3	A	G	6: 58,845,613 (GRCm39)		probably benign	Het
Hp1bp3	C	T	4: 137,964,520 (GRCm39)	S348F	probably damaging	Het
Inpp1	A	T	1: 52,838,513 (GRCm39)	F45L	probably damaging	Het
Ipo4	T	C	14: 55,863,399 (GRCm39)	Q1073R	possibly damaging	Het
Itgae	A	G	11: 73,008,973 (GRCm39)	K485E	probably benign	Het
Jak2	G	A	19: 29,261,029 (GRCm39)	V342I	probably damaging	Het
Kptn	C	A	7: 15,859,666 (GRCm39)	Q297K	probably damaging	Het
Lims2	A	G	18: 32,077,573 (GRCm39)	E103G	probably benign	Het
Mthfr	C	G	4: 148,139,885 (GRCm39)	S618W	probably damaging	Het
Nup133	A	G	8: 124,644,185 (GRCm39)	V727A	possibly damaging	Het
Oas2	T	G	5: 120,881,152 (GRCm39)	E313A	probably damaging	Het
Or10d4c	G	A	9: 39,558,646 (GRCm39)	C208Y	probably damaging	Het
Or52b2	C	A	7: 104,986,814 (GRCm39)	M36I	probably benign	Het
Or5b105	G	A	19: 13,080,642 (GRCm39)	R3C	possibly damaging	Het
Or5m8	T	A	2: 85,822,726 (GRCm39)	C188*	probably null	Het
Or5p63	A	T	7: 107,810,949 (GRCm39)	Y262*	probably null	Het
Park7	A	G	4: 150,992,806 (GRCm39)	V20A	possibly damaging	Het
Pgap4	T	C	4: 49,586,566 (GRCm39)	T201A	probably benign	Het
Phldb1	C	A	9: 44,612,964 (GRCm39)	V919L	probably benign	Het
Pkhd1l1	C	A	15: 44,460,407 (GRCm39)	H4205Q	probably benign	Het
Plekhg3	G	T	12: 76,613,040 (GRCm39)	E449*	probably null	Het
Pramel26	A	T	4: 143,537,338 (GRCm39)	I331N	probably damaging	Het
Pstpip1	T	C	9: 56,033,929 (GRCm39)	V301A	probably benign	Het
Ptdss1	G	A	13: 67,081,636 (GRCm39)	R22H	probably damaging	Het
Ptprq	A	G	10: 107,541,443 (GRCm39)	V361A	probably benign	Het
Ralgapa2	A	T	2: 146,188,714 (GRCm39)	V1309E	possibly damaging	Het
Rere	T	C	4: 150,695,438 (GRCm39)		probably benign	Het
Sbk3	T	A	7: 4,970,404 (GRCm39)	T322S	possibly damaging	Het
Scn9a	T	A	2: 66,335,354 (GRCm39)	I1203L	probably damaging	Het
Setdb1	A	T	3: 95,233,442 (GRCm39)		probably benign	Het
Sik3	C	A	9: 46,120,109 (GRCm39)	Q683K	probably damaging	Het
Slc24a5	A	G	2: 124,927,621 (GRCm39)	I307V	probably benign	Het
Smg6	A	G	11: 74,820,647 (GRCm39)	D306G	probably damaging	Het
Snx13	G	A	12: 35,136,899 (GRCm39)	W120*	probably null	Het
Snx5	A	G	2: 144,099,128 (GRCm39)		probably benign	Het
Srsf5	T	C	12: 80,994,298 (GRCm39)	S76P	probably benign	Het
Stard6	A	G	18: 70,629,186 (GRCm39)	D31G	probably damaging	Het
Taf3	A	G	2: 9,956,709 (GRCm39)	M333T	probably benign	Het
Taf6	T	G	5: 138,179,409 (GRCm39)	I377L	probably benign	Het
Taf8	G	T	17: 47,804,505 (GRCm39)	N252K	probably benign	Het
Tfap2c	A	G	2: 172,393,423 (GRCm39)	T113A	probably benign	Het
Tmtc4	C	T	14: 123,215,572 (GRCm39)	V25M	probably damaging	Het
Topbp1	T	A	9: 103,205,886 (GRCm39)	D841E	probably damaging	Het
Topbp1	T	A	9: 103,185,932 (GRCm39)		probably benign	Het
Ttn	A	T	2: 76,542,833 (GRCm39)	D33384E	probably damaging	Het
Unc13c	T	C	9: 73,838,067 (GRCm39)	E928G	probably benign	Het
Vav1	T	C	17: 57,603,090 (GRCm39)	F81L	probably damaging	Het
Vmn2r63	A	G	7: 42,553,042 (GRCm39)	I738T	probably damaging	Het
Vmn2r87	C	T	10: 130,315,806 (GRCm39)	E87K	probably damaging	Het
Zfp229	A	T	17: 21,964,822 (GRCm39)	M351L	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
R0102: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
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

Posted On

2013-08-08