Mutagenetix > Incidental Mutation

Incidental Mutation 'R6675:Nkx1-1'

527242

Institutional Source

Beutler Lab

Gene Symbol

Nkx1-1

Ensembl Gene

ENSMUSG00000029112

Gene Name

NK1 homeobox 1

Synonyms

Nkx-1.1, Sax2

Accession Numbers

Essential gene?

Probably essential (E-score: 0.838) question?

Stock #

R6675 (G1)

Quality Score

101.008

Status

Not validated

Chromosome

Chromosomal Location

33588078-33591320 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 33591223 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Glutamic Acid at position 33 (A33E)

Ref Sequence

ENSEMBL: ENSMUSP00000133620 (fasta)

Gene Model

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

AlphaFold

G3UXB3

Predicted Effect

unknown
Transcript: ENSMUST00000173348
AA Change: A33E

SMART Domains

Protein: ENSMUSP00000133620
Gene: ENSMUSG00000029112
AA Change: A33E

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: 99.9%
3x: 99.6%
10x: 98.2%
20x: 95.3%

Validation Efficiency

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: 46 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca9	T	C	11: 110,006,302 (GRCm39)	T1268A	probably benign	Het
Adamts20	A	G	15: 94,229,197 (GRCm39)		probably null	Het
Arhgap45	G	T	10: 79,853,938 (GRCm39)	D151Y	probably null	Het
Arhgef40	C	A	14: 52,229,098 (GRCm39)	L592I	probably damaging	Het
Ascc3	G	T	10: 50,626,659 (GRCm39)	E1720*	probably null	Het
Atp2c1	C	T	9: 105,330,732 (GRCm39)		probably null	Het
Avpi1	G	A	19: 42,112,183 (GRCm39)	P125L	probably benign	Het
Cers3	A	T	7: 66,435,844 (GRCm39)	T232S	possibly damaging	Het
Cfap53	T	C	18: 74,440,447 (GRCm39)		probably null	Het
Col4a3	T	C	1: 82,646,646 (GRCm39)	S386P	unknown	Het
Dhtkd1	A	T	2: 5,908,889 (GRCm39)	M735K	probably damaging	Het
Dnah8	G	A	17: 30,967,542 (GRCm39)	D2585N	probably benign	Het
Gad2	T	C	2: 22,563,997 (GRCm39)	V400A	possibly damaging	Het
Gm10801	TC	TCGCC	2: 98,494,151 (GRCm39)		probably benign	Het
Hmgxb3	T	G	18: 61,270,648 (GRCm39)	D892A	possibly damaging	Het
Hsd3b2	G	A	3: 98,620,788 (GRCm39)	T89I	probably benign	Het
Iars1	C	A	13: 49,873,054 (GRCm39)	A713D	probably damaging	Het
Itih1	G	A	14: 30,651,798 (GRCm39)	T848I	possibly damaging	Het
Kcne2	A	G	16: 92,093,512 (GRCm39)	D13G	probably benign	Het
Klra17	T	A	6: 129,849,286 (GRCm39)	N96I	probably damaging	Het
Lrig2	T	C	3: 104,365,251 (GRCm39)	N634D	probably benign	Het
Mrc2	T	A	11: 105,233,906 (GRCm39)		probably null	Het
Mroh3	A	T	1: 136,118,550 (GRCm39)	S558T	possibly damaging	Het
Ncapg2	G	T	12: 116,398,281 (GRCm39)	K627N	possibly damaging	Het
Ncstn	A	T	1: 171,899,095 (GRCm39)	D345E	probably damaging	Het
Or2n1	T	A	17: 38,486,905 (GRCm39)	M310K	probably benign	Het
Or51f2	A	G	7: 102,526,480 (GRCm39)	E51G	possibly damaging	Het
Osbpl9	G	T	4: 108,991,025 (GRCm39)		probably null	Het
P2rx6	T	C	16: 17,380,032 (GRCm39)	V52A	probably benign	Het
Pcdhgb5	C	T	18: 37,864,255 (GRCm39)	L17F	probably damaging	Het
Pdk2	T	C	11: 94,919,568 (GRCm39)	I273V	probably benign	Het
Pdpr	C	T	8: 111,828,532 (GRCm39)	Q12*	probably null	Het
Plxdc2	A	G	2: 16,716,932 (GRCm39)	T339A	probably benign	Het
Pramel27	G	A	4: 143,579,828 (GRCm39)	C471Y	probably damaging	Het
Retsat	T	C	6: 72,578,672 (GRCm39)	V128A	probably benign	Het
Rnf17	A	G	14: 56,697,432 (GRCm39)	E442G	probably damaging	Het
Sec31b	T	C	19: 44,512,214 (GRCm39)	N560S	probably benign	Het
Slc22a16	C	T	10: 40,449,836 (GRCm39)	Q91*	probably null	Het
Slc24a5	G	T	2: 124,922,615 (GRCm39)	A126S	possibly damaging	Het
Slc26a4	A	T	12: 31,590,512 (GRCm39)	D380E	possibly damaging	Het
Stc2	T	A	11: 31,310,307 (GRCm39)	D243V	probably benign	Het
Tshz2	G	T	2: 169,727,965 (GRCm39)	A385S	probably damaging	Het
Vmn1r113	G	A	7: 20,521,903 (GRCm39)	G232S	probably benign	Het
Vmn1r77	A	G	7: 11,775,382 (GRCm39)	T53A	probably damaging	Het
Zeb2	A	T	2: 44,887,457 (GRCm39)	Y518*	probably null	Het
Zfp760	T	A	17: 21,941,991 (GRCm39)	S389T	possibly damaging	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
R6381:Nkx1-1	UTSW	5	33,591,320 (GRCm39)	start codon destroyed	probably null
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'- TCACTTGTAGGCTCAGCTCC -3'
(R):5'- ACCGTTCGCAGCCAATTAG -3'

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

Posted On

2018-07-23