Mutagenetix > Incidental Mutation

Incidental Mutation 'R0583:Nkx2-6'

56528

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

038773-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0583 (G1)

Quality Score

160

Status

Not validated

Chromosome

Chromosomal Location

69409251-69412967 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 69412228 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Leucine at position 132 (Q132L)

Ref Sequence

ENSEMBL: ENSMUSP00000049898 (fasta)

Gene Model

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

AlphaFold

P43688

Predicted Effect

probably damaging
Transcript: ENSMUST00000062437
AA Change: Q132L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000049898
Gene: ENSMUSG00000044186
AA Change: Q132L

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000172547

Coding Region Coverage

1x: 99.4%
3x: 98.8%
10x: 97.1%
20x: 93.2%

Validation Efficiency

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: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700017B05Rik	A	G	9: 57,164,926 (GRCm39)	S483P	probably benign	Het
5730480H06Rik	A	G	5: 48,537,470 (GRCm39)	H169R	probably damaging	Het
Actn1	T	A	12: 80,245,803 (GRCm39)	I127F	probably damaging	Het
Cadm3	T	G	1: 173,168,738 (GRCm39)	T277P	probably benign	Het
Cast	T	C	13: 74,861,797 (GRCm39)	T629A	probably damaging	Het
Cblc	C	A	7: 19,526,486 (GRCm39)	C201F	probably benign	Het
Ccdc154	T	A	17: 25,387,398 (GRCm39)	D375E	possibly damaging	Het
Cdk6	A	G	5: 3,523,183 (GRCm39)	D201G	probably damaging	Het
Cep95	T	C	11: 106,705,449 (GRCm39)	V478A	probably benign	Het
Ciita	T	C	16: 10,341,668 (GRCm39)		probably null	Het
Clec4e	A	G	6: 123,260,653 (GRCm39)	F135S	probably damaging	Het
Cntn6	A	G	6: 104,753,275 (GRCm39)	D337G	possibly damaging	Het
Crlf3	A	T	11: 79,950,107 (GRCm39)	H174Q	probably damaging	Het
Cyb5r1	T	A	1: 134,335,339 (GRCm39)	F93I	probably damaging	Het
Dop1b	T	C	16: 93,552,374 (GRCm39)	I271T	probably benign	Het
Duxf1	G	A	10: 58,059,210 (GRCm39)	L515F	probably damaging	Het
Fcho1	T	C	8: 72,168,369 (GRCm39)	Y218C	probably damaging	Het
Fhad1	C	T	4: 141,631,301 (GRCm39)	M1297I	probably benign	Het
Igdcc4	T	C	9: 65,029,095 (GRCm39)	V244A	possibly damaging	Het
Ikzf5	A	G	7: 130,993,514 (GRCm39)		probably null	Het
Ilvbl	T	A	10: 78,419,101 (GRCm39)	V450E	probably damaging	Het
Kcns3	T	G	12: 11,141,479 (GRCm39)	N407H	probably damaging	Het
Klhl11	T	C	11: 100,355,150 (GRCm39)	K224E	possibly damaging	Het
Klra17	T	A	6: 129,845,656 (GRCm39)	D186V	probably damaging	Het
Lrrc37a	T	C	11: 103,389,263 (GRCm39)	D2054G	probably benign	Het
Mef2a	G	T	7: 66,884,896 (GRCm39)	S406*	probably null	Het
Mrgbp	A	G	2: 180,226,239 (GRCm39)	N104S	probably benign	Het
Mroh2a	GT	GTT	1: 88,183,888 (GRCm39)		probably null	Het
Muc5ac	C	A	7: 141,361,345 (GRCm39)	T1552N	probably damaging	Het
Muc5b	T	A	7: 141,410,435 (GRCm39)	Y1269*	probably null	Het
Myef2	T	C	2: 124,939,901 (GRCm39)		probably null	Het
Myg1	C	T	15: 102,246,225 (GRCm39)	Q367*	probably null	Het
Nalcn	T	C	14: 123,531,755 (GRCm39)	N1365S	possibly damaging	Het
Nfu1	T	C	6: 86,986,934 (GRCm39)	C18R	probably benign	Het
Or10a3b	C	T	7: 108,444,621 (GRCm39)	A199T	possibly damaging	Het
Or8k38	T	A	2: 86,488,704 (GRCm39)	I33F	probably benign	Het
Pak3	TTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC	TTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC	X: 142,526,889 (GRCm39)		probably benign	Het
Prh1	A	T	6: 132,548,796 (GRCm39)	Q101L	unknown	Het
Ribc2	A	T	15: 85,017,115 (GRCm39)		probably null	Het
Rnf19a	C	A	15: 36,253,151 (GRCm39)	R396L	probably damaging	Het
Sdad1	A	G	5: 92,452,923 (GRCm39)	I105T	probably damaging	Het
Sec24b	G	T	3: 129,834,960 (GRCm39)	Y79*	probably null	Het
Tatdn2	A	G	6: 113,679,486 (GRCm39)	E277G	possibly damaging	Het
Tex10	A	C	4: 48,451,952 (GRCm39)	F725V	probably damaging	Het
Themis3	T	C	17: 66,866,748 (GRCm39)	D164G	probably benign	Het
Ubxn7	T	C	16: 32,194,732 (GRCm39)	W220R	probably damaging	Het
Usp33	C	A	3: 152,073,891 (GRCm39)	R246S	probably damaging	Het
Vmn2r102	T	A	17: 19,897,043 (GRCm39)	V130E	probably benign	Het
Vmn2r112	C	T	17: 22,837,930 (GRCm39)	P797L	probably damaging	Het
Vmn2r114	ATTT	ATT	17: 23,509,906 (GRCm39)		probably null	Het
Yme1l1	T	C	2: 23,076,262 (GRCm39)	V340A	probably damaging	Het
Zfta	A	G	19: 7,397,639 (GRCm39)	D62G	probably damaging	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
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
R8090:Nkx2-6	UTSW	14	69,409,465 (GRCm39)	missense	possibly damaging	0.85
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'- GACTTTAGAAACTCCTCCGGGCAC -3'
(R):5'- TTCCGAGATCAGTAAGGTGGGCAG -3'

Sequencing Primer
(F):5'- GCACGATCTCCCGACTTG -3'
(R):5'- AGCTCAGGCTTTTCACCAGG -3'

Posted On

2013-07-11