Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01673:Nkx2-4'

103566

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Nkx2-4

Ensembl Gene

ENSMUSG00000054160

Gene Name

NK2 homeobox 4

Synonyms

Nkx-2.4, 1700001P03Rik, tinman

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.651) question?

Stock #

IGL01673

Quality Score

Status

Chromosome

Chromosomal Location

146925257-146927359 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 146925834 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Methionine at position 343 (V343M)

Ref Sequence

ENSEMBL: ENSMUSP00000066690 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000067020]

AlphaFold

Q9EQM3

Predicted Effect

possibly damaging
Transcript: ENSMUST00000067020
AA Change: V343M

PolyPhen 2 Score 0.876 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000066690
Gene: ENSMUSG00000054160
AA Change: V343M

Domain	Start	End	E-Value	Type
low complexity region	33	70	N/A	INTRINSIC
low complexity region	127	142	N/A	INTRINSIC
low complexity region	173	187	N/A	INTRINSIC
HOX	188	250	9.05e-25	SMART
low complexity region	263	272	N/A	INTRINSIC
low complexity region	290	342	N/A	INTRINSIC

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 21 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Cpz	A	T	5: 35,669,891 (GRCm39)	V262E	probably benign	Het
Cyp4f14	A	G	17: 33,130,125 (GRCm39)		probably null	Het
Ddx46	G	T	13: 55,800,861 (GRCm39)	V339F	probably damaging	Het
Gpn1	T	G	5: 31,652,179 (GRCm39)	C21W	probably damaging	Het
Gpr63	A	T	4: 25,008,014 (GRCm39)	Q246L	probably benign	Het
Hsp90b1	T	A	10: 86,529,296 (GRCm39)	M658L	probably damaging	Het
Immp2l	T	C	12: 41,118,320 (GRCm39)	S4P	probably benign	Het
Krtap9-5	A	T	11: 99,840,377 (GRCm39)	*359C	probably null	Het
Lgals7	A	G	7: 28,565,621 (GRCm39)		probably benign	Het
Mak	G	T	13: 41,201,699 (GRCm39)		probably null	Het
Mrps18c	A	G	5: 100,946,672 (GRCm39)	R13G	possibly damaging	Het
Myo7a	A	G	7: 97,703,915 (GRCm39)	V1946A	probably benign	Het
Nfyc	T	C	4: 120,636,307 (GRCm39)		probably benign	Het
Or5be3	T	C	2: 86,863,731 (GRCm39)	Y278C	probably damaging	Het
Or8d2	T	C	9: 38,760,316 (GRCm39)	V302A	probably benign	Het
Rapgef4	G	T	2: 72,071,781 (GRCm39)	S743I	probably damaging	Het
Tcf7	A	G	11: 52,147,823 (GRCm39)	C210R	probably damaging	Het
Ubqln3	T	A	7: 103,791,605 (GRCm39)	I162F	probably benign	Het
Vmn1r216	A	G	13: 23,283,641 (GRCm39)	Q108R	probably damaging	Het
Vmn1r74	A	T	7: 11,581,317 (GRCm39)	I206F	possibly damaging	Het
Wdr64	T	C	1: 175,627,922 (GRCm39)	I872T	possibly damaging	Het

Other mutations in Nkx2-4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01308:Nkx2-4	APN	2	146,926,260 (GRCm39)	missense	possibly damaging	0.93
R1135:Nkx2-4	UTSW	2	146,926,328 (GRCm39)	nonsense	probably null
R4437:Nkx2-4	UTSW	2	146,926,179 (GRCm39)	missense	possibly damaging	0.71
R4551:Nkx2-4	UTSW	2	146,926,842 (GRCm39)	missense	probably benign	0.06
R6647:Nkx2-4	UTSW	2	146,926,187 (GRCm39)	missense	possibly damaging	0.86
R6653:Nkx2-4	UTSW	2	146,925,860 (GRCm39)	missense	possibly damaging	0.93
R7479:Nkx2-4	UTSW	2	146,926,088 (GRCm39)	missense	probably benign	0.28
R7821:Nkx2-4	UTSW	2	146,927,208 (GRCm39)	missense	probably benign	0.03
R8255:Nkx2-4	UTSW	2	146,925,924 (GRCm39)	nonsense	probably null
R8831:Nkx2-4	UTSW	2	146,927,114 (GRCm39)	missense	probably benign
R9269:Nkx2-4	UTSW	2	146,926,184 (GRCm39)	missense	possibly damaging	0.71

Posted On

2014-01-21