Mutagenetix > Incidental Mutation

Incidental Mutation 'R4437:Nkx2-4'

329564

Institutional Source

Beutler Lab

Gene Symbol

Nkx2-4

Ensembl Gene

ENSMUSG00000054160

Gene Name

NK2 homeobox 4

Synonyms

Nkx-2.4, 1700001P03Rik, tinman

MMRRC Submission

041150-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.651) question?

Stock #

R4437 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

146925257-146927359 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 146926179 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 228 (T228A)

Ref Sequence

ENSEMBL: ENSMUSP00000066690 (fasta)

Gene Model

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

AlphaFold

Q9EQM3

Predicted Effect

possibly damaging
Transcript: ENSMUST00000067020
AA Change: T228A

PolyPhen 2 Score 0.707 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000066690
Gene: ENSMUSG00000054160
AA Change: T228A

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

1x: 99.2%
3x: 98.6%
10x: 97.2%
20x: 95.1%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 32 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam6b	A	C	12: 113,454,281 (GRCm39)	Q366P	probably damaging	Het
Arhgef16	A	G	4: 154,364,153 (GRCm39)		probably null	Het
Bcar1	G	A	8: 112,442,021 (GRCm39)	T273M	probably damaging	Het
Bcl2a1d	A	T	9: 88,613,753 (GRCm39)	M7K	probably benign	Het
Bptf	A	G	11: 106,965,300 (GRCm39)	V1235A	possibly damaging	Het
Camsap1	G	A	2: 25,828,658 (GRCm39)	T1022I	possibly damaging	Het
Cdc37l1	T	C	19: 28,985,021 (GRCm39)	F224L	probably damaging	Het
Col4a1	G	T	8: 11,256,387 (GRCm39)	C1493*	probably null	Het
Cul9	A	G	17: 46,813,085 (GRCm39)	L2378P	probably damaging	Het
D630003M21Rik	G	A	2: 158,055,382 (GRCm39)	P585L	probably damaging	Het
Fam169a	A	G	13: 97,263,248 (GRCm39)	D567G	probably damaging	Het
Frem3	A	G	8: 81,339,236 (GRCm39)	I510V	probably benign	Het
Garin2	T	A	12: 78,761,824 (GRCm39)	F163I	probably damaging	Het
Gm2381	A	T	7: 42,469,268 (GRCm39)	H285Q	probably damaging	Het
Gm4884	A	G	7: 40,692,514 (GRCm39)	Q161R	probably damaging	Het
Hivep2	C	A	10: 14,004,713 (GRCm39)	T437K	probably benign	Het
Igkv1-99	T	G	6: 68,519,318 (GRCm39)	S91A	probably benign	Het
Itga6	T	C	2: 71,655,982 (GRCm39)	L302P	probably benign	Het
Mdga2	T	C	12: 66,519,972 (GRCm39)		probably null	Het
Myoc	A	G	1: 162,476,681 (GRCm39)	M462V	possibly damaging	Het
Npr1	T	G	3: 90,363,593 (GRCm39)	D810A	probably damaging	Het
Or4a68	T	G	2: 89,269,698 (GRCm39)	R308S	possibly damaging	Het
Or4k15b	T	C	14: 50,272,287 (GRCm39)	D191G	probably damaging	Het
Or51a24	T	C	7: 103,734,128 (GRCm39)	E53G	possibly damaging	Het
Pde4dip	G	A	3: 97,673,885 (GRCm39)	L344F	possibly damaging	Het
Pfas	A	G	11: 68,879,243 (GRCm39)	L1218P	probably damaging	Het
Rimoc1	T	C	15: 4,021,318 (GRCm39)	E79G	probably damaging	Het
Rln1	A	T	19: 29,311,962 (GRCm39)	F12Y	possibly damaging	Het
Robo2	T	C	16: 73,770,132 (GRCm39)	T531A	possibly damaging	Het
Siah1b	G	A	X: 162,854,688 (GRCm39)	P131S	probably damaging	Het
Tsc2	G	A	17: 24,818,687 (GRCm39)	P1450L	probably benign	Het
Vps33a	A	T	5: 123,669,947 (GRCm39)	I519N	probably benign	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
IGL01673:Nkx2-4	APN	2	146,925,834 (GRCm39)	missense	possibly damaging	0.88
R1135:Nkx2-4	UTSW	2	146,926,328 (GRCm39)	nonsense	probably null
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

Predicted Primers

PCR Primer
(F):5'- TTCTGCCATAGAGCAGGTTGG -3'
(R):5'- GTCACTTAAAACGAGCGGGG -3'

Sequencing Primer
(F):5'- ATAGAGCAGGTTGGCGCCG -3'
(R):5'- CCAGTCTCCAGGTTCATGG -3'

Posted On

2015-07-21