Mutagenetix > Incidental Mutation

Incidental Mutation 'R1443:Nanog'

158649

Institutional Source

Beutler Lab

Gene Symbol

Nanog

Ensembl Gene

ENSMUSG00000012396

Gene Name

Nanog homeobox

Synonyms

ENK, 2410002E02Rik, ecat4

MMRRC Submission

039498-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R1443 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

122684448-122691592 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 122688734 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Phenylalanine at position 105 (S105F)

Ref Sequence

ENSEMBL: ENSMUSP00000108200 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000012540] [ENSMUST00000112580] [ENSMUST00000112581]

AlphaFold

Q80Z64

Predicted Effect

probably damaging
Transcript: ENSMUST00000012540
AA Change: S130F

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

SMART Domains

Protein: ENSMUSP00000012540
Gene: ENSMUSG00000012396
AA Change: S130F

Domain	Start	End	E-Value	Type
low complexity region	13	25	N/A	INTRINSIC
HOX	96	158	5.33e-22	SMART
low complexity region	206	230	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000112580
AA Change: S105F

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

SMART Domains

Protein: ENSMUSP00000108199
Gene: ENSMUSG00000012396
AA Change: S105F

Domain	Start	End	E-Value	Type
HOX	71	133	5.33e-22	SMART
low complexity region	181	205	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000112581
AA Change: S105F

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

SMART Domains

Protein: ENSMUSP00000108200
Gene: ENSMUSG00000012396
AA Change: S105F

Domain	Start	End	E-Value	Type
HOX	71	133	5.33e-22	SMART
low complexity region	181	205	N/A	INTRINSIC

Coding Region Coverage

1x: 98.8%
3x: 97.7%
10x: 94.2%
20x: 85.7%

Validation Efficiency

MGI Phenotype

FUNCTION: The protein encoded by this gene is a DNA binding homeobox transcription factor involved in embryonic stem (ES) cell proliferation, renewal, and pluripotency. The encoded protein can block ES cell differentiation and can also autorepress its own expression in differentiating cells. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2015]
PHENOTYPE: Mice homozygous for a disruption in this gene die between E3.5 and E5.5 with abnormal embryonic and extraembryonic tissue development. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Actr8	A	G	14: 29,706,056 (GRCm39)	M99V	possibly damaging	Het
Adamtsl2	T	A	2: 26,993,078 (GRCm39)	C703S	possibly damaging	Het
Afap1	G	T	5: 36,126,005 (GRCm39)	K333N	probably damaging	Het
Aldh3a2	G	A	11: 61,155,133 (GRCm39)	S137L	probably damaging	Het
Alkbh2	C	T	5: 114,262,287 (GRCm39)	E148K	probably damaging	Het
Aoc1	A	T	6: 48,882,379 (GRCm39)	K107M	possibly damaging	Het
Aoc1l1	A	T	6: 48,952,849 (GRCm39)	Y258F	probably damaging	Het
Bltp2	T	A	11: 78,153,624 (GRCm39)	S56R	probably damaging	Het
Bmp8a	G	T	4: 123,210,758 (GRCm39)	S252R	possibly damaging	Het
C7	T	C	15: 5,088,901 (GRCm39)	I13M	probably benign	Het
Cblb	T	A	16: 51,959,974 (GRCm39)	D322E	possibly damaging	Het
Cfap54	G	A	10: 92,768,583 (GRCm39)	T180I	probably damaging	Het
Clrn2	C	T	5: 45,617,453 (GRCm39)	A108V	probably damaging	Het
Cspg4	T	A	9: 56,793,796 (GRCm39)	D510E	probably damaging	Het
Cyp2c40	A	T	19: 39,766,415 (GRCm39)	N393K	possibly damaging	Het
Dcaf5	T	C	12: 80,410,843 (GRCm39)	Y294C	probably damaging	Het
Dclk3	T	A	9: 111,298,088 (GRCm39)	M544K	probably benign	Het
Ell3	A	T	2: 121,269,946 (GRCm39)	F388I	probably damaging	Het
Fam78b	A	G	1: 166,906,329 (GRCm39)	I163V	probably damaging	Het
Gnptab	T	C	10: 88,269,943 (GRCm39)	L882P	probably damaging	Het
Herc2	A	T	7: 55,854,481 (GRCm39)	D3802V	possibly damaging	Het
Hs3st5	A	G	10: 36,709,410 (GRCm39)	E315G	probably benign	Het
Idh3b	A	T	2: 130,125,974 (GRCm39)		probably null	Het
Lama4	G	A	10: 38,949,639 (GRCm39)	E911K	probably damaging	Het
Macf1	A	G	4: 123,404,800 (GRCm39)	I436T	probably damaging	Het
Mgam	C	A	6: 40,736,714 (GRCm39)	S871*	probably null	Het
Mtmr7	A	G	8: 41,013,923 (GRCm39)	S212P	probably damaging	Het
Mylk2	A	G	2: 152,761,336 (GRCm39)	T480A	probably damaging	Het
Myo3a	A	T	2: 22,287,437 (GRCm39)	N191I	probably damaging	Het
Nanos2	A	G	7: 18,721,564 (GRCm39)	Y12C	probably damaging	Het
Nsg1	C	T	5: 38,312,987 (GRCm39)	V71I	probably benign	Het
Or10g3	A	T	14: 52,610,408 (GRCm39)	I34N	probably damaging	Het
Or13a1	T	C	6: 116,471,386 (GRCm39)	L272S	probably benign	Het
Or2ad1	C	T	13: 21,326,337 (GRCm39)	V297I	probably benign	Het
Or51a42	A	T	7: 103,707,930 (GRCm39)	I293N	probably damaging	Het
Or5b105	G	T	19: 13,080,568 (GRCm39)	Y33*	probably null	Het
Pcdhb17	A	G	18: 37,619,701 (GRCm39)	Q497R	probably benign	Het
Pcsk7	C	A	9: 45,837,284 (GRCm39)	P536Q	probably damaging	Het
Phactr4	G	A	4: 132,104,559 (GRCm39)	T256I	probably benign	Het
Phyhip	A	G	14: 70,704,731 (GRCm39)	K317E	probably damaging	Het
Pkhd1	C	T	1: 20,604,782 (GRCm39)	G1178R	probably damaging	Het
Ppp1r9a	G	A	6: 5,057,557 (GRCm39)	G544D	probably damaging	Het
Ptpn3	T	C	4: 57,225,775 (GRCm39)	D480G	probably benign	Het
Ptprn2	A	T	12: 117,217,235 (GRCm39)	K918N	probably damaging	Het
Rab42	T	C	4: 132,029,658 (GRCm39)	D188G	probably benign	Het
Rasgrf2	C	A	13: 92,131,795 (GRCm39)	D20Y	probably damaging	Het
Ryr2	G	A	13: 11,794,152 (GRCm39)	T942I	probably benign	Het
Sbpl	T	C	17: 24,172,328 (GRCm39)	K197R	unknown	Het
Slc44a1	T	A	4: 53,561,069 (GRCm39)	V595E	probably damaging	Het
Slc6a19	A	G	13: 73,832,463 (GRCm39)	M410T	probably damaging	Het
Sntb1	A	T	15: 55,511,351 (GRCm39)	L411H	probably damaging	Het
Synj2	A	G	17: 6,073,940 (GRCm39)	K245E	probably damaging	Het
Tasor2	T	C	13: 3,625,543 (GRCm39)	K1469R	probably benign	Het
Tmem131	G	A	1: 36,864,559 (GRCm39)	T558I	probably damaging	Het
Tnrc18	A	T	5: 142,757,288 (GRCm39)	S1078T	unknown	Het
Trmu	T	A	15: 85,781,302 (GRCm39)		probably null	Het
Ttn	A	T	2: 76,721,430 (GRCm39)		probably benign	Het
Tyw3	T	C	3: 154,293,160 (GRCm39)	T172A	probably benign	Het
Vldlr	T	C	19: 27,217,121 (GRCm39)	I348T	possibly damaging	Het
Zfp114	A	G	7: 23,877,194 (GRCm39)	D12G	probably damaging	Het

Other mutations in Nanog

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00475:Nanog	APN	6	122,688,495 (GRCm39)	critical splice acceptor site	probably null
IGL03278:Nanog	APN	6	122,688,704 (GRCm39)	missense	probably damaging	1.00
IGL03387:Nanog	APN	6	122,688,731 (GRCm39)	missense	probably damaging	1.00
R0280:Nanog	UTSW	6	122,690,357 (GRCm39)	missense	probably damaging	0.96
R2520:Nanog	UTSW	6	122,690,418 (GRCm39)	missense	probably benign	0.08
R3037:Nanog	UTSW	6	122,690,227 (GRCm39)	missense	possibly damaging	0.81
R4486:Nanog	UTSW	6	122,689,676 (GRCm39)	critical splice donor site	probably null
R4770:Nanog	UTSW	6	122,688,550 (GRCm39)	missense	possibly damaging	0.63
R4790:Nanog	UTSW	6	122,684,874 (GRCm39)	missense	probably benign	0.00
R4825:Nanog	UTSW	6	122,690,299 (GRCm39)	missense	probably benign	0.09
R4931:Nanog	UTSW	6	122,684,865 (GRCm39)	missense	possibly damaging	0.95
R6010:Nanog	UTSW	6	122,690,255 (GRCm39)	missense	probably benign	0.16
R6025:Nanog	UTSW	6	122,690,350 (GRCm39)	missense	possibly damaging	0.94
R7661:Nanog	UTSW	6	122,690,431 (GRCm39)	missense	probably damaging	0.96
R8236:Nanog	UTSW	6	122,690,131 (GRCm39)	missense	probably benign
R8272:Nanog	UTSW	6	122,688,736 (GRCm39)	missense	probably benign	0.00
R8520:Nanog	UTSW	6	122,690,475 (GRCm39)	missense	possibly damaging	0.94
R9500:Nanog	UTSW	6	122,690,219 (GRCm39)	missense	probably damaging	1.00
R9632:Nanog	UTSW	6	122,684,799 (GRCm39)	missense	probably benign	0.00
R9710:Nanog	UTSW	6	122,684,799 (GRCm39)	missense	probably benign	0.00
X0065:Nanog	UTSW	6	122,684,752 (GRCm39)	missense	probably benign
Z1176:Nanog	UTSW	6	122,690,190 (GRCm39)	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- GCTCTCAAGTCCTGAGGCTGACAA -3'
(R):5'- AGGTCTACAGCCCGACCTTAAACA -3'

Sequencing Primer
(F):5'- GCACTCAAGGACAGGTTTCA -3'
(R):5'- cccaggagacagaggcag -3'

Posted On

2014-03-14