Mutagenetix > Incidental Mutation

Incidental Mutation 'R9767:Nkx1-2'

733337

Institutional Source

Beutler Lab

Gene Symbol

Nkx1-2

Ensembl Gene

ENSMUSG00000048528

Gene Name

NK1 homeobox 2

Synonyms

Sax1, Nkx-1.2, Nkx-1.1

MMRRC Submission

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.190) question?

Stock #

R9767 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

132197968-132201366 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 132199402 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Isoleucine at position 120 (V120I)

Ref Sequence

ENSEMBL: ENSMUSP00000052778 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000054562] [ENSMUST00000124096]

AlphaFold

P42580

Predicted Effect

probably benign
Transcript: ENSMUST00000054562
AA Change: V120I

PolyPhen 2 Score 0.034 (Sensitivity: 0.95; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000052778
Gene: ENSMUSG00000048528
AA Change: V120I

Domain	Start	End	E-Value	Type
low complexity region	33	46	N/A	INTRINSIC
low complexity region	88	96	N/A	INTRINSIC
low complexity region	127	152	N/A	INTRINSIC
HOX	156	218	7.24e-24	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000124096

SMART Domains

Protein: ENSMUSP00000130971
Gene: ENSMUSG00000030849

Domain	Start	End	E-Value	Type
Pfam:Pkinase	1	118	4.8e-19	PFAM
Pfam:Pkinase_Tyr	1	118	1.7e-50	PFAM
low complexity region	146	160	N/A	INTRINSIC

Coding Region Coverage

1x: 99.9%
3x: 99.8%
10x: 99.3%
20x: 98.4%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 41 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrl4	A	T	3: 151,207,394 (GRCm39)	M314L	probably benign	Het
Ank3	T	C	10: 69,823,799 (GRCm39)	S41P	probably damaging	Het
Aox4	A	C	1: 58,274,357 (GRCm39)	N381T	probably benign	Het
Bnip3l	G	A	14: 67,246,214 (GRCm39)	P7L	possibly damaging	Het
Bpifb6	G	A	2: 153,751,148 (GRCm39)		probably null	Het
Cep350	A	G	1: 155,739,018 (GRCm39)	V2275A	probably benign	Het
Cntn4	G	A	6: 106,655,395 (GRCm39)	G831E	probably benign	Het
D6Ertd527e	G	C	6: 87,088,839 (GRCm39)	S334T	unknown	Het
Dchs2	A	G	3: 83,212,206 (GRCm39)	I2002V	probably benign	Het
Dennd2a	G	A	6: 39,483,709 (GRCm39)	R384C	probably damaging	Het
Dock1	A	G	7: 134,342,796 (GRCm39)	T136A	possibly damaging	Het
Eif2s2	A	T	2: 154,730,125 (GRCm39)	D57E	probably benign	Het
Eml2	C	T	7: 18,920,083 (GRCm39)	T129I	probably benign	Het
Flad1	A	C	3: 89,310,718 (GRCm39)	I443S	probably benign	Het
Glis1	A	T	4: 107,491,794 (GRCm39)	T741S	probably benign	Het
Gpr156	A	G	16: 37,818,297 (GRCm39)	Y331C	probably damaging	Het
Lrwd1	C	T	5: 136,162,856 (GRCm39)	V122M	possibly damaging	Het
Ndufs2	G	T	1: 171,068,643 (GRCm39)	P89Q	probably damaging	Het
Or2t35	C	T	14: 14,407,929 (GRCm38)	R234W	probably damaging	Het
Or7a41	T	C	10: 78,870,765 (GRCm39)	L45P	possibly damaging	Het
Pcdhga3	T	A	18: 37,808,096 (GRCm39)	I183N	probably benign	Het
Pkhd1	T	C	1: 20,484,636 (GRCm39)	D1973G	probably benign	Het
Ppp1r3a	A	G	6: 14,718,101 (GRCm39)	S938P	probably benign	Het
Prss27	G	T	17: 24,257,283 (GRCm39)	M1I	probably null	Het
Rai14	T	C	15: 10,610,127 (GRCm39)	T74A	probably benign	Het
Rcc2	C	T	4: 140,435,331 (GRCm39)	R117W	probably damaging	Het
Rpl31	T	A	1: 39,410,189 (GRCm39)	*130R	probably null	Het
Rplp0	T	C	5: 115,699,563 (GRCm39)	S213P	probably benign	Het
Sdcbp2	T	C	2: 151,429,057 (GRCm39)	I152T	probably damaging	Het
Senp3	T	C	11: 69,569,013 (GRCm39)	T383A	possibly damaging	Het
Sod2	C	A	17: 13,227,180 (GRCm39)	Q45K	probably benign	Het
Speg	A	T	1: 75,403,825 (GRCm39)	I2669F	possibly damaging	Het
Stat4	T	G	1: 52,141,653 (GRCm39)	F577V	probably damaging	Het
Tex9	C	A	9: 72,368,518 (GRCm39)	E377*	probably null	Het
Tmprss15	A	T	16: 78,875,977 (GRCm39)	V119D	probably damaging	Het
Unc79	T	C	12: 103,079,234 (GRCm39)	S1800P	probably benign	Het
Vldlr	A	G	19: 27,212,274 (GRCm39)	D96G	probably damaging	Het
Vmn2r51	G	T	7: 9,839,407 (GRCm39)	N60K	probably benign	Het
Vps13b	A	G	15: 35,910,403 (GRCm39)	D3389G	probably damaging	Het
Vps13d	C	T	4: 144,879,306 (GRCm39)	E1506K		Het
Zfp1	A	G	8: 112,396,203 (GRCm39)	N75D	probably benign	Het

Other mutations in Nkx1-2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01939:Nkx1-2	APN	7	132,201,203 (GRCm39)	missense	probably damaging	1.00
R0894:Nkx1-2	UTSW	7	132,201,042 (GRCm39)	missense	probably null	0.98
R3782:Nkx1-2	UTSW	7	132,199,161 (GRCm39)	missense	probably damaging	1.00
R4248:Nkx1-2	UTSW	7	132,201,209 (GRCm39)	frame shift	probably null
R6376:Nkx1-2	UTSW	7	132,201,240 (GRCm39)	missense	probably damaging	0.98
R7589:Nkx1-2	UTSW	7	132,201,204 (GRCm39)	missense	probably damaging	0.99
R9656:Nkx1-2	UTSW	7	132,201,228 (GRCm39)	nonsense	probably null
Z1177:Nkx1-2	UTSW	7	132,201,150 (GRCm39)	missense	probably benign	0.07
Z1177:Nkx1-2	UTSW	7	132,199,351 (GRCm39)	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- AACTTGTTCTCTAGGGCCAC -3'
(R):5'- AAATCTGAGTGCTCTTGGGAGG -3'

Sequencing Primer
(F):5'- CACCAGCTGCTCGTAAGTGAAG -3'
(R):5'- AATTGTTATGGGCTTCTGGTCACC -3'

Posted On

2022-11-14