Mutagenetix > Incidental Mutation

Incidental Mutation 'R8904:Nkx2-6'

678394

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

068761-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8904 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

69409251-69412967 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 69409420 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 57 (D57G)

Ref Sequence

ENSEMBL: ENSMUSP00000049898 (fasta)

Gene Model

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

AlphaFold

P43688

Predicted Effect

probably benign
Transcript: ENSMUST00000062437
AA Change: D57G

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000049898
Gene: ENSMUSG00000044186
AA Change: D57G

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

Meta Mutation Damage Score

0.0949

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.6%

Validation Efficiency

99% (66/67)

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: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2510009E07Rik	CCGGAAGGGGAGGAGCAGTGACCCAGTTTCGGA	CCGGA	16: 21,472,148 (GRCm39)		probably null	Het
Adcy1	T	G	11: 7,059,075 (GRCm39)	L327R	probably damaging	Het
Ajm1	A	T	2: 25,467,914 (GRCm39)	S666T	probably benign	Het
Amotl1	T	C	9: 14,469,861 (GRCm39)	Q624R	probably damaging	Het
Ampd1	A	G	3: 102,988,374 (GRCm39)	T106A	probably benign	Het
Aqr	T	A	2: 113,967,474 (GRCm39)	I514F	probably damaging	Het
Atp2b1	A	G	10: 98,804,866 (GRCm39)	T30A	possibly damaging	Het
Atp9a	A	T	2: 168,547,097 (GRCm39)	Y186N	probably benign	Het
Bub1	T	A	2: 127,671,622 (GRCm39)	N21I	possibly damaging	Het
Cachd1	G	A	4: 100,810,363 (GRCm39)	D322N	probably damaging	Het
Ccdc38	A	G	10: 93,411,197 (GRCm39)	E402G	probably damaging	Het
Ccl27a	A	T	4: 41,774,194 (GRCm39)		probably null	Het
Clec4a4	T	C	6: 122,990,836 (GRCm39)		probably benign	Het
Clic5	A	T	17: 44,552,992 (GRCm39)	K82M	probably benign	Het
Cnot10	A	T	9: 114,430,423 (GRCm39)	S566T	probably benign	Het
Cul9	T	C	17: 46,831,427 (GRCm39)	T1596A	probably damaging	Het
Cyp2c55	A	G	19: 39,022,816 (GRCm39)	E318G		Het
Entpd8	A	C	2: 24,973,575 (GRCm39)		probably benign	Het
Epb41l5	A	G	1: 119,547,936 (GRCm39)	F156L	probably damaging	Het
Ephb4	T	A	5: 137,369,067 (GRCm39)	M819K	probably damaging	Het
Esr1	A	G	10: 4,696,654 (GRCm39)	R168G	possibly damaging	Het
Fbxw10	C	A	11: 62,765,831 (GRCm39)	Y700*	probably null	Het
Fras1	G	T	5: 96,929,138 (GRCm39)	R3847S	probably benign	Het
Gm11110	T	C	17: 57,410,439 (GRCm39)	T20A	unknown	Het
Gpr150	G	T	13: 76,204,528 (GRCm39)	S139*	probably null	Het
Grm1	A	T	10: 10,595,281 (GRCm39)	N782K	probably damaging	Het
Hmcn2	A	G	2: 31,323,404 (GRCm39)	S4173G	possibly damaging	Het
Hmx1	T	A	5: 35,549,511 (GRCm39)	V268D	probably damaging	Het
Hsbp1l1	T	C	18: 80,278,685 (GRCm39)	T33A	possibly damaging	Het
Hsd17b3	T	C	13: 64,212,194 (GRCm39)	T161A	probably damaging	Het
Igll1	A	T	16: 16,681,576 (GRCm39)	W60R	probably benign	Het
Itga11	A	G	9: 62,664,893 (GRCm39)	T593A	probably benign	Het
Kat6a	A	G	8: 23,428,824 (GRCm39)	D1393G	possibly damaging	Het
Krt36	A	G	11: 99,996,173 (GRCm39)	F84L	probably benign	Het
Macrod1	T	C	19: 7,174,385 (GRCm39)	S266P	probably damaging	Het
Mib2	A	G	4: 155,744,173 (GRCm39)	V163A	probably damaging	Het
Mmut	A	G	17: 41,248,284 (GRCm39)	T104A	probably damaging	Het
Mpl	A	G	4: 118,301,263 (GRCm39)	L534P		Het
Myo3b	C	A	2: 70,257,252 (GRCm39)	H1317N	probably benign	Het
Or1ab2	A	G	8: 72,864,276 (GRCm39)	I289V	probably damaging	Het
Or5b24	T	C	19: 12,912,192 (GRCm39)	V30A	probably benign	Het
Or5d46	T	G	2: 88,169,949 (GRCm39)	F13L	possibly damaging	Het
Or5p79	A	G	7: 108,221,919 (GRCm39)	N300S	probably damaging	Het
Or6s1	A	G	14: 51,308,665 (GRCm39)	Y62H	probably damaging	Het
Or7g33	A	T	9: 19,448,760 (GRCm39)	D155E	possibly damaging	Het
Osbpl11	T	A	16: 33,047,607 (GRCm39)	H523Q	probably damaging	Het
Pde1c	A	T	6: 56,156,128 (GRCm39)	S148T	possibly damaging	Het
Pign	G	A	1: 105,519,359 (GRCm39)	A521V	possibly damaging	Het
Pprc1	A	G	19: 46,060,183 (GRCm39)	M1536V	possibly damaging	Het
Prg4	C	A	1: 150,331,810 (GRCm39)	A288S	possibly damaging	Het
Prim2	A	T	1: 33,669,513 (GRCm39)	I154N	possibly damaging	Het
Prkdc	T	C	16: 15,545,590 (GRCm39)	V1902A	probably benign	Het
Prss40	C	T	1: 34,595,045 (GRCm39)		probably benign	Het
Ret	C	T	6: 118,157,174 (GRCm39)		probably benign	Het
Rgs22	A	T	15: 36,026,127 (GRCm39)	C1056S	probably damaging	Het
Schip1	T	C	3: 68,402,436 (GRCm39)	L199P	possibly damaging	Het
Sema4d	A	T	13: 51,854,935 (GRCm39)	L54*	probably null	Het
Sgsm1	C	T	5: 113,421,495 (GRCm39)	G531R	probably benign	Het
Tas1r2	T	C	4: 139,394,714 (GRCm39)	F519S	probably damaging	Het
Tnfsf11	C	T	14: 78,516,119 (GRCm39)	R283Q	possibly damaging	Het
Tril	C	T	6: 53,797,202 (GRCm39)	V7M	possibly damaging	Het
Tsr1	T	A	11: 74,790,217 (GRCm39)	Y137*	probably null	Het
Ubr5	A	G	15: 38,042,153 (GRCm39)	S148P		Het
Unc13b	A	G	4: 43,178,531 (GRCm39)		probably benign	Het
Zfp606	A	G	7: 12,223,506 (GRCm39)	T64A	possibly 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
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
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
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'- TGGCTGTGGTCCAGAACTTG -3'
(R):5'- TGCCCTTTGAACTCCTAAAATGAGG -3'

Sequencing Primer
(F):5'- TGGTCCAGAACTTGCCAGCTC -3'
(R):5'- CTCCTAAAATGAGGGGCGG -3'

Posted On

2021-08-02