Mutagenetix > Incidental Mutation

Incidental Mutation 'R9168:Nkx1-1'

696171

Institutional Source

Beutler Lab

Gene Symbol

Nkx1-1

Ensembl Gene

ENSMUSG00000029112

Gene Name

NK1 homeobox 1

Synonyms

Nkx-1.1, Sax2

MMRRC Submission

Accession Numbers

Essential gene?

Probably essential (E-score: 0.838) question?

Stock #

R9168 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

33588078-33591320 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 33591131 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Methionine at position 64 (V64M)

Ref Sequence

ENSEMBL: ENSMUSP00000133620 (fasta)

Gene Model

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

AlphaFold

G3UXB3

Predicted Effect

unknown
Transcript: ENSMUST00000173348
AA Change: V64M

SMART Domains

Protein: ENSMUSP00000133620
Gene: ENSMUSG00000029112
AA Change: V64M

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.9%
20x: 99.6%

Validation Efficiency

97% (67/69)

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: 72 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Alppl2	T	C	1: 87,015,050 (GRCm39)	Y437C	probably damaging	Het
Arhgef11	T	G	3: 87,633,790 (GRCm39)	L808R	probably damaging	Het
Armc7	G	A	11: 115,366,724 (GRCm39)		probably benign	Het
Ascl1	T	C	10: 87,328,361 (GRCm39)	N197S	probably benign	Het
Cdc42bpb	T	G	12: 111,286,517 (GRCm39)	E630D	possibly damaging	Het
Cep128	T	C	12: 91,233,794 (GRCm39)	I425V	probably damaging	Het
Ces4a	T	A	8: 105,876,050 (GRCm39)	D530E	probably benign	Het
Ch25h	T	C	19: 34,451,905 (GRCm39)	I208V	probably benign	Het
Cnpy3	A	C	17: 47,063,019 (GRCm39)	C11G	unknown	Het
Col12a1	A	C	9: 79,548,783 (GRCm39)	Y2187*	probably null	Het
Cyp2c40	C	T	19: 39,755,819 (GRCm39)	M498I	probably benign	Het
D630039A03Rik	T	A	4: 57,910,113 (GRCm39)	Y233F	probably damaging	Het
Dffa	A	T	4: 149,192,226 (GRCm39)	D100V	probably damaging	Het
Dock7	A	T	4: 98,953,643 (GRCm39)	M363K		Het
Dscam	A	G	16: 96,420,768 (GRCm39)	V1706A	possibly damaging	Het
En1	A	G	1: 120,530,892 (GRCm39)	D44G	unknown	Het
Enpp4	T	A	17: 44,413,141 (GRCm39)	N131I	probably damaging	Het
Ezh1	T	C	11: 101,086,433 (GRCm39)	D587G	probably damaging	Het
Gm21149	G	T	5: 15,677,132 (GRCm39)	H241N	possibly damaging	Het
Gna15	T	C	10: 81,350,192 (GRCm39)	Y70C	probably damaging	Het
Gucy1a1	T	G	3: 82,009,353 (GRCm39)	M552L	probably damaging	Het
Herc2	G	A	7: 55,802,208 (GRCm39)	V2017M	probably damaging	Het
Hsf4	C	T	8: 105,999,373 (GRCm39)	A297V	probably benign	Het
Ighd	T	A	12: 113,379,203 (GRCm39)	T122S		Het
Iqca1	C	T	1: 90,065,937 (GRCm39)	R218Q	probably damaging	Het
Isl2	C	A	9: 55,452,227 (GRCm39)	S266R	probably benign	Het
Itpkb	A	C	1: 180,160,028 (GRCm39)	R51S	probably benign	Het
Jup	A	T	11: 100,274,219 (GRCm39)		probably null	Het
Kbtbd6	T	C	14: 79,690,553 (GRCm39)	V416A	possibly damaging	Het
Klhl22	T	A	16: 17,602,068 (GRCm39)	Y372N	probably damaging	Het
Klrc3	T	C	6: 129,616,142 (GRCm39)	E191G	probably damaging	Het
Lhx5	A	G	5: 120,570,410 (GRCm39)	D22G	probably benign	Het
Marchf9	GGGCGGCGGCGGCGGCG	GGGCGGCGGCGGCG	10: 126,895,360 (GRCm39)		probably benign	Het
Mbtps1	A	G	8: 120,248,602 (GRCm39)	I707T	probably benign	Het
Nbeal1	T	A	1: 60,331,047 (GRCm39)	Y2219N	probably damaging	Het
Neb	A	G	2: 52,085,696 (GRCm39)	I5513T	probably damaging	Het
Nme4	G	T	17: 26,314,389 (GRCm39)	A13E	probably benign	Het
Or2g25	T	C	17: 37,971,047 (GRCm39)	Y59C	probably damaging	Het
Or52e18	A	G	7: 104,609,001 (GRCm39)	*313R	probably null	Het
Or7e173	T	C	9: 19,938,818 (GRCm39)	M139V	probably benign	Het
Osbpl3	A	T	6: 50,329,762 (GRCm39)		probably null	Het
Phc3	T	A	3: 30,961,544 (GRCm39)	M963L	probably benign	Het
Phf20	C	T	2: 156,109,234 (GRCm39)	P194S	probably benign	Het
Pou1f1	C	T	16: 65,317,427 (GRCm39)		probably benign	Het
Pramel46	T	A	5: 95,418,133 (GRCm39)	M288L	probably benign	Het
Prdm13	C	G	4: 21,679,659 (GRCm39)	R277P	unknown	Het
Prelid1	A	G	13: 55,470,010 (GRCm39)	K3R	possibly damaging	Het
Psd	C	A	19: 46,309,233 (GRCm39)	D575Y	probably damaging	Het
Ptger3	C	A	3: 157,273,424 (GRCm39)	T257K	probably damaging	Het
Pth1r	T	C	9: 110,556,204 (GRCm39)	H223R	probably benign	Het
Ptk2b	C	T	14: 66,424,899 (GRCm39)	E182K	probably damaging	Het
Ptprj	T	C	2: 90,294,916 (GRCm39)	T431A	possibly damaging	Het
Rbbp5	T	A	1: 132,417,464 (GRCm39)	D119E	probably benign	Het
Rest	GGGGGCCTGCCCCTCCCACGGGGCCTGCCCCTCCCACGGGGCCTGCCCCTCCCACGGAGCCTGCCCCTCCCACGGGGC	GGGGGCCTGCCCCTCCCACGGGGCCTGCCCCTCCCACGGAGCCTGCCCCTCCCACGGGGC	5: 77,429,651 (GRCm39)		probably benign	Het
Rinl	T	G	7: 28,490,084 (GRCm39)	L41R	possibly damaging	Het
Rrp12	A	G	19: 41,865,603 (GRCm39)	V730A	probably benign	Het
Saraf	G	T	8: 34,632,343 (GRCm39)	V141L	possibly damaging	Het
Slc6a13	T	C	6: 121,302,042 (GRCm39)	L208P	probably damaging	Het
Slc9a9	C	A	9: 94,595,000 (GRCm39)	T170K	probably damaging	Het
Spata31f1e	T	C	4: 42,793,380 (GRCm39)	T251A	probably benign	Het
Stk33	T	C	7: 108,928,747 (GRCm39)	N255S	probably damaging	Het
Tenm2	C	T	11: 35,930,722 (GRCm39)	V1769M	probably damaging	Het
Themis	C	A	10: 28,658,233 (GRCm39)	T420N	probably benign	Het
Tmem116	T	C	5: 121,605,975 (GRCm39)	V109A		Het
Tnfaip2	T	A	12: 111,411,382 (GRCm39)	L2Q	probably damaging	Het
Trub1	T	C	19: 57,452,859 (GRCm39)		probably null	Het
Ttn	C	T	2: 76,679,260 (GRCm39)	V10821I	unknown	Het
Ube2j1	C	A	4: 33,045,111 (GRCm39)	A197D	probably benign	Het
Vmn2r101	T	A	17: 19,809,138 (GRCm39)	I89N	probably damaging	Het
Wfikkn1	T	C	17: 26,097,145 (GRCm39)	Y393C	probably damaging	Het
Zfp729b	C	A	13: 67,741,942 (GRCm39)	E108*	probably null	Het
Zfp976	A	T	7: 42,263,011 (GRCm39)	C276*	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
R6381:Nkx1-1	UTSW	5	33,591,320 (GRCm39)	start codon destroyed	probably null
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
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'- GCCGGGAGCATAAACATTCC -3'
(R):5'- AGCTGAGCTGCCCATCTTTC -3'

Sequencing Primer
(F):5'- TAAACATTCCGGAGCAGTCG -3'
(R):5'- ATCTTTCCCCGGGCTGGAG -3'

Posted On

2022-02-07