Mutagenetix > Incidental Mutation

Incidental Mutation 'R5412:Nkx2-6'

427554

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

042981-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5412 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

69409251-69412967 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 69412195 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Leucine at position 121 (R121L)

Ref Sequence

ENSEMBL: ENSMUSP00000049898 (fasta)

Gene Model

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

AlphaFold

P43688

Predicted Effect

probably damaging
Transcript: ENSMUST00000062437
AA Change: R121L

PolyPhen 2 Score 0.966 (Sensitivity: 0.77; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000049898
Gene: ENSMUSG00000044186
AA Change: R121L

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000172547

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 97.0%
20x: 94.5%

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: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930563M21Rik	T	A	9: 55,886,036 (GRCm39)	N36Y	probably damaging	Het
Ankfn1	T	A	11: 89,396,007 (GRCm39)	E246D	probably benign	Het
Arid1a	T	C	4: 133,446,913 (GRCm39)		probably benign	Het
Bbs7	A	T	3: 36,653,522 (GRCm39)	D300E	probably benign	Het
C3	T	C	17: 57,527,187 (GRCm39)	D754G	probably benign	Het
Ccpg1	A	T	9: 72,917,588 (GRCm39)	Q240L	probably damaging	Het
Cdk13	G	A	13: 17,941,115 (GRCm39)	P650S	probably damaging	Het
Celsr2	G	T	3: 108,307,311 (GRCm39)	S1933Y	probably damaging	Het
Cep135	T	A	5: 76,764,709 (GRCm39)	H562Q	probably benign	Het
Cyp26a1	G	T	19: 37,689,630 (GRCm39)	C442F	probably damaging	Het
Dnah7a	T	C	1: 53,674,503 (GRCm39)	S425G	probably benign	Het
Espn	C	T	4: 152,212,582 (GRCm39)	V752M	probably damaging	Het
Glyr1	A	G	16: 4,854,297 (GRCm39)	S113P	possibly damaging	Het
Grk4	A	T	5: 34,902,612 (GRCm39)	Y388F	probably benign	Het
H2-T15	C	T	17: 36,366,936 (GRCm39)	C369Y	probably benign	Het
Heca	C	A	10: 17,778,044 (GRCm39)	V518F	probably damaging	Het
Hmcn2	C	T	2: 31,236,629 (GRCm39)	P391S	possibly damaging	Het
Hnrnpl	A	G	7: 28,510,529 (GRCm39)		probably benign	Het
Hsd3b2	A	G	3: 98,619,208 (GRCm39)	S246P	possibly damaging	Het
Ifna11	C	T	4: 88,738,380 (GRCm39)	P62L	probably damaging	Het
Katnal2	A	T	18: 77,090,131 (GRCm39)	V292D	probably damaging	Het
Krt16	T	A	11: 100,137,593 (GRCm39)	I371F	probably damaging	Het
Ly6g2	A	T	15: 75,089,669 (GRCm39)	E59V	probably damaging	Het
Map10	A	T	8: 126,397,724 (GRCm39)	L372F	probably damaging	Het
Megf10	A	T	18: 57,324,219 (GRCm39)	M87L	probably damaging	Het
Ncoa6	T	C	2: 155,249,701 (GRCm39)	H1201R	possibly damaging	Het
Ndc80	C	A	17: 71,821,226 (GRCm39)	D241Y	probably damaging	Het
Ndufs1	T	C	1: 63,205,508 (GRCm39)	M94V	possibly damaging	Het
Nos1ap	T	A	1: 170,176,968 (GRCm39)	K145M	probably damaging	Het
Or6a2	A	G	7: 106,600,842 (GRCm39)	V75A	probably damaging	Het
Otop1	A	G	5: 38,455,328 (GRCm39)	I241V	probably benign	Het
Panx2	C	A	15: 88,953,135 (GRCm39)	P542H	possibly damaging	Het
Pcdha5	C	A	18: 37,095,510 (GRCm39)	P673Q	probably benign	Het
Pon1	A	G	6: 5,185,314 (GRCm39)	L62P	probably damaging	Het
Prdx6	A	T	1: 161,071,860 (GRCm39)	I102N	probably damaging	Het
Prkd3	T	A	17: 79,262,140 (GRCm39)	I725F	possibly damaging	Het
Selenon	T	C	4: 134,269,749 (GRCm39)	N395S	probably benign	Het
Serpinb8	G	A	1: 107,533,616 (GRCm39)	E224K	probably benign	Het
Serpinb9b	A	G	13: 33,213,496 (GRCm39)	M18V	probably benign	Het
Smc6	A	G	12: 11,335,400 (GRCm39)	E318G	possibly damaging	Het
Srrt	A	T	5: 137,294,549 (GRCm39)	Y786N	probably damaging	Het
Stk36	G	T	1: 74,644,615 (GRCm39)		probably null	Het
Stpg1	T	A	4: 135,252,786 (GRCm39)	L179Q	possibly damaging	Het
Stra8	G	A	6: 34,907,885 (GRCm39)	M1I	probably null	Het
Tiam1	G	T	16: 89,681,753 (GRCm39)	H408Q	possibly damaging	Het
Tm2d1	G	A	4: 98,253,855 (GRCm39)	T106I	probably damaging	Het
Tmem150b	A	C	7: 4,719,368 (GRCm39)	I184S	probably null	Het
Vmn1r216	A	G	13: 23,284,081 (GRCm39)	I255V	probably benign	Het
Vps13b	G	A	15: 35,533,531 (GRCm39)	A868T	probably damaging	Het
Wdr81	C	T	11: 75,341,620 (GRCm39)	D1216N	probably null	Het
Zfp26	T	C	9: 20,349,535 (GRCm39)	Y343C	possibly damaging	Het
Zfp276	A	T	8: 123,982,520 (GRCm39)	I95F	probably damaging	Het
Zfp330	T	C	8: 83,490,865 (GRCm39)	E315G	probably benign	Het
Zfp683	C	A	4: 133,781,862 (GRCm39)	P56Q	probably damaging	Het
Zpld1	T	A	16: 55,052,646 (GRCm39)	S323C	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
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'- TAGTGAAAACCTGAGCCTGATGC -3'
(R):5'- TTGCCGTCCAGTACCAGTAC -3'

Sequencing Primer
(F):5'- CCTGATGCTGGCTGTTGATG -3'
(R):5'- AGTACTGGCACTGCTACCC -3'

Posted On

2016-09-01