Mutagenetix > Incidental Mutation

Incidental Mutation 'R8090:Nkx2-6'

629910

Institutional Source

Beutler Lab

Gene Symbol

Nkx2-6

Ensembl Gene

ENSMUSG00000044186

Gene Name

NK2 homeobox 6

Synonyms

Nkx2.6, Tix, tinman, Nkx-2.6

MMRRC Submission

067523-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8090 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

69409251-69412967 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 69409465 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 72 (L72P)

Ref Sequence

ENSEMBL: ENSMUSP00000049898 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000062437]

AlphaFold

P43688

Predicted Effect

possibly damaging
Transcript: ENSMUST00000062437
AA Change: L72P

PolyPhen 2 Score 0.850 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000049898
Gene: ENSMUSG00000044186
AA Change: L72P

Domain	Start	End	E-Value	Type
HOX	123	185	1.64e-22	SMART

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.5%
20x: 92.1%

Validation Efficiency

99% (73/74)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a homeobox-containing protein that belongs to the NK-2 homeobox family. This protein is a vertebrate homolog of Drosophila homeobox-containing protein called 'tinman', which has been shown to be essential for development of the heart-like dorsal vessel. In conjunction with related gene, NKX2-5, this gene may play a role in both pharyngeal and cardiac embryonic development. Mutations in this gene are associated with persistent truncus arteriosus.[provided by RefSeq, Aug 2011]
PHENOTYPE: Mice homozygous for a targeted null allele are viable and fertile and develop normally, with no anomalies detected in the caudal pharyngeal pouch derivatives, heart or gut. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aanat	T	C	11: 116,487,017 (GRCm39)	C75R	probably damaging	Het
Ackr2	A	G	9: 121,738,045 (GRCm39)	D140G	possibly damaging	Het
Adgrv1	C	A	13: 81,596,953 (GRCm39)		probably null	Het
Arpp21	A	G	9: 111,945,769 (GRCm39)	L593S	unknown	Het
Atn1	G	A	6: 124,722,304 (GRCm39)	P850S	unknown	Het
Capn13	G	A	17: 73,689,849 (GRCm39)	S54L	probably benign	Het
Cd1d2	C	T	3: 86,893,964 (GRCm39)	P5S	possibly damaging	Het
Cgn	A	G	3: 94,687,263 (GRCm39)	V13A	probably damaging	Het
Clint1	T	C	11: 45,778,267 (GRCm39)	V136A	probably damaging	Het
Cox5a	T	A	9: 57,436,346 (GRCm39)	L66M	probably damaging	Het
Crb2	G	T	2: 37,685,503 (GRCm39)	C1205F	probably damaging	Het
Ddx3y	C	T	Y: 1,264,897 (GRCm39)	S519N	probably benign	Het
Defb50	G	A	8: 22,321,087 (GRCm39)	G26S	probably damaging	Het
Dock8	T	C	19: 25,131,606 (GRCm39)	L1112P	probably damaging	Het
Dsc2	C	T	18: 20,165,331 (GRCm39)	G881R	possibly damaging	Het
Gm9837	A	G	11: 53,361,065 (GRCm39)	S50P	unknown	Het
Gon4l	A	G	3: 88,799,931 (GRCm39)	I859V	probably damaging	Het
Grin3a	A	T	4: 49,714,224 (GRCm39)	D840E	probably damaging	Het
Ifit2	T	A	19: 34,550,662 (GRCm39)	N67K	possibly damaging	Het
Il17re	G	A	6: 113,439,250 (GRCm39)	W53*	probably null	Het
Kbtbd4	A	T	2: 90,736,183 (GRCm39)		probably benign	Het
Krt25	T	A	11: 99,207,416 (GRCm39)		probably null	Het
Krt26	T	C	11: 99,227,315 (GRCm39)	M171V	probably benign	Het
Lrba	T	C	3: 86,255,796 (GRCm39)	L1046S	probably benign	Het
Lrp2	G	T	2: 69,295,089 (GRCm39)	P3410T	possibly damaging	Het
Madd	T	C	2: 90,985,968 (GRCm39)	K1241R	probably benign	Het
Mcm8	T	G	2: 132,673,569 (GRCm39)	S402A	probably benign	Het
Mpc1	A	C	17: 8,515,705 (GRCm39)	Q74H	probably benign	Het
Mroh4	A	G	15: 74,496,550 (GRCm39)	V279A	probably benign	Het
Muc21	G	C	17: 35,932,617 (GRCm39)	T523S	unknown	Het
Ndufs2	A	T	1: 171,064,247 (GRCm39)	H380Q	probably damaging	Het
Nme6	T	A	9: 109,671,019 (GRCm39)	L73*	probably null	Het
Odf2l	G	T	3: 144,832,796 (GRCm39)	A85S	probably damaging	Het
Or51ac3	A	T	7: 103,214,048 (GRCm39)	I146K	probably benign	Het
P4ha3	T	A	7: 99,949,859 (GRCm39)	C109S	probably damaging	Het
Plpp6	C	T	19: 28,942,271 (GRCm39)	Q291*	probably null	Het
Plxnd1	G	A	6: 115,933,578 (GRCm39)	A1855V	probably damaging	Het
Ptcd1	A	T	5: 145,096,345 (GRCm39)	H249Q	possibly damaging	Het
Rnf149	C	A	1: 39,616,304 (GRCm39)	A18S	unknown	Het
Scara5	C	T	14: 65,979,586 (GRCm39)	R368*	probably null	Het
Sfmbt2	G	A	2: 10,466,190 (GRCm39)	D342N	probably benign	Het
Shank3	T	A	15: 89,389,661 (GRCm39)		probably null	Het
Slc22a27	A	G	19: 7,843,101 (GRCm39)		probably null	Het
Srgap3	G	T	6: 112,757,996 (GRCm39)	Y170*	probably null	Het
Szt2	A	T	4: 118,244,199 (GRCm39)		probably null	Het
Tbccd1	A	G	16: 22,660,805 (GRCm39)	S4P	probably benign	Het
Tcf20	A	G	15: 82,740,207 (GRCm39)	S415P	probably damaging	Het
Tdrd9	T	C	12: 111,982,369 (GRCm39)	S487P	probably damaging	Het
Trim26	A	G	17: 37,167,640 (GRCm39)	Q300R	possibly damaging	Het
Wdfy4	G	A	14: 32,826,072 (GRCm39)	P1193L		Het
Yif1b	A	G	7: 28,943,726 (GRCm39)	N93S	probably benign	Het
Zdhhc22	C	A	12: 87,030,394 (GRCm39)	V185F	probably benign	Het
Zfp638	G	T	6: 83,906,801 (GRCm39)	S322I	probably damaging	Het
Zfp786	T	A	6: 47,796,943 (GRCm39)	H665L	probably damaging	Het
Zfp799	C	T	17: 33,039,949 (GRCm39)	V106I	probably benign	Het

Other mutations in Nkx2-6

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01284:Nkx2-6	APN	14	69,409,326 (GRCm39)	missense	probably benign
IGL01350:Nkx2-6	APN	14	69,412,222 (GRCm39)	missense	probably damaging	1.00
FR4548:Nkx2-6	UTSW	14	69,412,678 (GRCm39)	missense	probably damaging	1.00
FR4976:Nkx2-6	UTSW	14	69,412,678 (GRCm39)	missense	probably damaging	1.00
R0583:Nkx2-6	UTSW	14	69,412,228 (GRCm39)	missense	probably damaging	1.00
R1670:Nkx2-6	UTSW	14	69,412,126 (GRCm39)	missense	probably benign	0.00
R2115:Nkx2-6	UTSW	14	69,409,288 (GRCm39)	missense	probably damaging	1.00
R3692:Nkx2-6	UTSW	14	69,409,476 (GRCm39)	missense	probably benign	0.09
R4624:Nkx2-6	UTSW	14	69,412,375 (GRCm39)	missense	probably damaging	1.00
R5189:Nkx2-6	UTSW	14	69,409,342 (GRCm39)	missense	probably benign	0.00
R5412:Nkx2-6	UTSW	14	69,412,195 (GRCm39)	missense	probably damaging	0.97
R5583:Nkx2-6	UTSW	14	69,409,272 (GRCm39)	missense	probably damaging	0.98
R6748:Nkx2-6	UTSW	14	69,412,555 (GRCm39)	missense	probably benign
R7487:Nkx2-6	UTSW	14	69,409,389 (GRCm39)	missense	probably benign	0.02
R8351:Nkx2-6	UTSW	14	69,409,476 (GRCm39)	missense	probably benign	0.09
R8904:Nkx2-6	UTSW	14	69,409,420 (GRCm39)	missense	probably benign
R8906:Nkx2-6	UTSW	14	69,412,623 (GRCm39)	missense	probably benign	0.01
R9287:Nkx2-6	UTSW	14	69,412,404 (GRCm39)	missense	possibly damaging	0.67

Predicted Primers

PCR Primer
(F):5'- ACATTCTCAGGCTGGAGTGC -3'
(R):5'- AGCTCTCATAACCTGGCTCC -3'

Sequencing Primer
(F):5'- AGTGCCAACAGAAGGATTCC -3'
(R):5'- CATCCCCTCTTTGTGGTTATTAGAGG -3'

Posted On

2020-06-30