Mutagenetix > Incidental Mutation

Incidental Mutation 'R6381:Nkx1-1'

515308

Institutional Source

Beutler Lab

Gene Symbol

Nkx1-1

Ensembl Gene

ENSMUSG00000029112

Gene Name

NK1 homeobox 1

Synonyms

Nkx-1.1, Sax2

MMRRC Submission

044530-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.861) question?

Stock #

R6381 (G1)

Quality Score

193.009

Status

Not validated

Chromosome

Chromosomal Location

33588078-33591320 bp(-) (GRCm39)

Type of Mutation

start codon destroyed

DNA Base Change (assembly)

T to C at 33591320 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Valine at position 1 (M1V)

Ref Sequence

ENSEMBL: ENSMUSP00000133620 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000173348]

AlphaFold

G3UXB3

Predicted Effect

probably null
Transcript: ENSMUST00000173348
AA Change: M1V

SMART Domains

Protein: ENSMUSP00000133620
Gene: ENSMUSG00000029112
AA Change: M1V

Domain	Start	End	E-Value	Type
low complexity region	24	42	N/A	INTRINSIC
low complexity region	68	88	N/A	INTRINSIC
low complexity region	94	120	N/A	INTRINSIC
low complexity region	146	160	N/A	INTRINSIC
low complexity region	166	187	N/A	INTRINSIC
low complexity region	199	231	N/A	INTRINSIC
HOX	250	312	2.74e-24	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000200726

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.2%
20x: 97.2%

Validation Efficiency

97% (56/58)

MGI Phenotype

PHENOTYPE: Mice homozygous for disruptions in this gene show poor growth and survival. Most die within the first three weeks of life. Those that reach adulthood are fertile but do not produce viable offspring. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930503L19Rik	T	A	18: 70,600,788 (GRCm39)	M365L	probably damaging	Het
Aars2	A	G	17: 45,829,471 (GRCm39)	E786G	probably benign	Het
Adamts12	G	T	15: 11,257,080 (GRCm39)	V478F	possibly damaging	Het
Akr1c21	T	A	13: 4,624,183 (GRCm39)	D12E	probably damaging	Het
Aplf	A	T	6: 87,635,959 (GRCm39)	M118K	probably damaging	Het
Apobec1	A	G	6: 122,555,890 (GRCm39)	L189P	probably damaging	Het
BC061237	A	G	14: 44,741,713 (GRCm39)	Q152R	possibly damaging	Het
Bche	A	G	3: 73,609,132 (GRCm39)	I98T	probably benign	Het
Cc2d2a	G	T	5: 43,873,118 (GRCm39)	R983L	possibly damaging	Het
Ccnd3	T	C	17: 47,816,149 (GRCm39)		probably benign	Het
Cd74	G	T	18: 60,944,435 (GRCm39)	C215F	probably damaging	Het
Cep97	C	T	16: 55,742,534 (GRCm39)	A138T	probably damaging	Het
Ces1e	T	A	8: 93,944,206 (GRCm39)	N204I	probably damaging	Het
Dicer1	T	C	12: 104,662,721 (GRCm39)	D1620G	probably benign	Het
Dnah17	A	G	11: 118,020,011 (GRCm39)	V12A	probably benign	Het
Dstyk	T	A	1: 132,384,503 (GRCm39)		probably null	Het
Elapor1	T	C	3: 108,389,130 (GRCm39)	K222E	possibly damaging	Het
Eml2	G	A	7: 18,935,088 (GRCm39)	V432I	probably damaging	Het
Entr1	A	G	2: 26,275,093 (GRCm39)		probably null	Het
Gm10570	G	T	4: 130,202,021 (GRCm39)		probably benign	Het
Gm7145	C	T	1: 117,913,669 (GRCm39)	Q184*	probably null	Het
Gpat2	G	C	2: 127,273,838 (GRCm39)	G294R	possibly damaging	Het
Gtse1	G	A	15: 85,746,349 (GRCm39)	R55H	probably benign	Het
Hdac4	G	T	1: 91,912,247 (GRCm39)	Q381K	possibly damaging	Het
Ifit3b	T	C	19: 34,589,871 (GRCm39)	I349T	probably benign	Het
Inpp5a	A	T	7: 138,980,589 (GRCm39)	D9V	probably benign	Het
Irs1	T	C	1: 82,265,405 (GRCm39)	N937S	possibly damaging	Het
Kcna4	T	C	2: 107,125,317 (GRCm39)	M17T	probably benign	Het
Lipa	T	A	19: 34,502,146 (GRCm39)	M33L	probably benign	Het
Marchf6	G	T	15: 31,467,838 (GRCm39)	Q790K	probably benign	Het
Mccc1	G	A	3: 36,030,876 (GRCm39)	P397S	probably benign	Het
Mrgprb2	T	C	7: 48,202,138 (GRCm39)	I196V	probably benign	Het
Myh15	T	A	16: 48,921,844 (GRCm39)	S463R	probably damaging	Het
Nab2	T	C	10: 127,500,220 (GRCm39)	K291E	probably damaging	Het
Neto2	T	C	8: 86,369,138 (GRCm39)	T294A	probably damaging	Het
Or2h2	C	T	17: 37,396,977 (GRCm39)	V27I	probably benign	Het
Pla2g4c	C	T	7: 13,077,933 (GRCm39)	T357I	probably benign	Het
Psmd2	A	G	16: 20,474,023 (GRCm39)	E242G	probably benign	Het
Rnase12	A	C	14: 51,294,551 (GRCm39)	Y43D	probably damaging	Het
Rpl18	T	A	7: 45,369,016 (GRCm39)	F58I	probably damaging	Het
Ryr1	T	G	7: 28,774,682 (GRCm39)	M2313L	possibly damaging	Het
Scn4a	G	T	11: 106,211,137 (GRCm39)	Q1627K	probably damaging	Het
Scnn1g	A	G	7: 121,366,722 (GRCm39)	S640G	probably benign	Het
Sdr9c7	T	A	10: 127,739,542 (GRCm39)	M219K	probably benign	Het
Soat1	A	T	1: 156,263,373 (GRCm39)	M392K	probably damaging	Het
Spata18	G	T	5: 73,832,559 (GRCm39)	K337N	probably damaging	Het
Supt16	A	G	14: 52,417,003 (GRCm39)	V325A	probably benign	Het
Syt2	A	G	1: 134,674,588 (GRCm39)	E342G	probably damaging	Het
Tars2	A	T	3: 95,661,799 (GRCm39)	L37*	probably null	Het
Tep1	T	C	14: 51,082,888 (GRCm39)	D1040G	probably damaging	Het
Tmc8	A	T	11: 117,682,426 (GRCm39)	S613C	probably null	Het
Top3a	C	T	11: 60,634,849 (GRCm39)	C660Y	probably damaging	Het
Tpsg1	C	T	17: 25,591,543 (GRCm39)	R48C	probably damaging	Het
Vmn2r57	T	C	7: 41,078,242 (GRCm39)	N72S	probably benign	Het
Whrn	G	A	4: 63,390,921 (GRCm39)	T269I	probably benign	Het
Zfp759	T	A	13: 67,286,969 (GRCm39)	Y173*	probably null	Het

Other mutations in Nkx1-1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R1826:Nkx1-1	UTSW	5	33,591,277 (GRCm39)	missense	unknown
R2175:Nkx1-1	UTSW	5	33,588,598 (GRCm39)	missense	probably benign	0.10
R3735:Nkx1-1	UTSW	5	33,591,074 (GRCm39)	missense	unknown
R4973:Nkx1-1	UTSW	5	33,588,410 (GRCm39)	missense	possibly damaging	0.89
R6155:Nkx1-1	UTSW	5	33,588,395 (GRCm39)	missense	probably damaging	1.00
R6322:Nkx1-1	UTSW	5	33,588,389 (GRCm39)	missense	probably damaging	1.00
R6675:Nkx1-1	UTSW	5	33,591,223 (GRCm39)	missense	unknown
R6831:Nkx1-1	UTSW	5	33,591,147 (GRCm39)	missense	unknown
R9153:Nkx1-1	UTSW	5	33,588,703 (GRCm39)	missense	unknown
R9168:Nkx1-1	UTSW	5	33,591,131 (GRCm39)	missense	unknown
R9470:Nkx1-1	UTSW	5	33,591,275 (GRCm39)	missense	unknown
Z1177:Nkx1-1	UTSW	5	33,588,839 (GRCm39)	missense	unknown

Predicted Primers

PCR Primer
(F):5'- CCTACTGTTGAACTTGTTGGGATCTAG -3'
(R):5'- GACCGTTCGCAGCCAATTAG -3'

Sequencing Primer
(F):5'- TTGGGATCTAGGATGTCCAACAC -3'
(R):5'- ATAAATGCACTGGCCCGG -3'

Posted On

2018-05-04