Mutagenetix > Incidental Mutation

Incidental Mutation 'R8998:Nkx6-1'

684813

Institutional Source

Beutler Lab

Gene Symbol

Nkx6-1

Ensembl Gene

ENSMUSG00000035187

Gene Name

NK6 homeobox 1

Synonyms

NKX6A, Nkx6.1

MMRRC Submission

068829-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R8998 (G1)

Quality Score

199.009

Status

Not validated

Chromosome

Chromosomal Location

101807050-101812577 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 101812082 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Valine at position 7 (M7V)

Ref Sequence

ENSEMBL: ENSMUSP00000042716 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000044125]

AlphaFold

Q99MA9

Predicted Effect

unknown
Transcript: ENSMUST00000044125
AA Change: M7V

SMART Domains

Protein: ENSMUSP00000042716
Gene: ENSMUSG00000035187
AA Change: M7V

Domain	Start	End	E-Value	Type
low complexity region	13	29	N/A	INTRINSIC
low complexity region	33	66	N/A	INTRINSIC
low complexity region	69	92	N/A	INTRINSIC
low complexity region	110	181	N/A	INTRINSIC
HOX	235	299	9.56e-24	SMART

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.4%
20x: 98.0%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] In the pancreas, NKX6.1 is required for the development of beta cells and is a potent bifunctional transcription regulator that binds to AT-rich sequences within the promoter region of target genes Iype et al. (2004) [PubMed 15056733].[supplied by OMIM, Mar 2008]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit neonatal lethality, abnormal neuron specification, decreased motor neuron number, and reduced pancreatic beta cell number and insulin secretion. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 44 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aipl1	T	C	11: 71,921,083 (GRCm39)	E245G	possibly damaging	Het
Cd6	A	T	19: 10,776,642 (GRCm39)	C128S	probably damaging	Het
Cep41	T	C	6: 30,666,165 (GRCm39)	D98G	probably benign	Het
Cfap52	T	C	11: 67,818,137 (GRCm39)	K525E	probably damaging	Het
Ddx10	T	C	9: 53,140,534 (GRCm39)	E289G	possibly damaging	Het
Dnah1	T	C	14: 31,018,235 (GRCm39)	T1428A	probably benign	Het
Dsg3	T	C	18: 20,666,684 (GRCm39)	L631P	probably damaging	Het
Dusp19	T	A	2: 80,461,271 (GRCm39)	C187S	probably benign	Het
Efcab3	A	T	11: 104,640,477 (GRCm39)	M1072L	probably benign	Het
Fap	T	C	2: 62,367,368 (GRCm39)	H338R	probably benign	Het
Gabrg1	T	A	5: 70,973,378 (GRCm39)	I59F	probably benign	Het
Glb1l3	A	T	9: 26,764,914 (GRCm39)		probably null	Het
Igkv8-26	C	A	6: 70,170,514 (GRCm39)	A35E	probably benign	Het
Ikzf1	A	G	11: 11,635,013 (GRCm39)		probably benign	Het
Krt18	A	C	15: 101,939,874 (GRCm39)	E357D	probably damaging	Het
Lbr	C	T	1: 181,646,512 (GRCm39)	G470E	probably damaging	Het
Map2	A	T	1: 66,452,473 (GRCm39)	K454N	possibly damaging	Het
Map2k3	T	C	11: 60,840,817 (GRCm39)	V282A		Het
Men1	G	A	19: 6,389,960 (GRCm39)	V538I	probably benign	Het
Mfn1	T	A	3: 32,623,683 (GRCm39)	M621K	possibly damaging	Het
Mpdz	C	A	4: 81,202,882 (GRCm39)	G1838*	probably null	Het
Msantd5f9	G	C	4: 73,837,420 (GRCm39)	N99K	probably damaging	Het
Mypn	A	T	10: 62,998,050 (GRCm39)	L420*	probably null	Het
Notum	G	A	11: 120,545,207 (GRCm39)	H451Y	probably benign	Het
Odad2	C	A	18: 7,211,574 (GRCm39)	V767L	possibly damaging	Het
Or11i1	A	T	3: 106,728,999 (GRCm39)	I292N	probably damaging	Het
Or2b28	A	G	13: 21,531,988 (GRCm39)	K297E	probably damaging	Het
Or6c3	A	G	10: 129,309,386 (GRCm39)	N275S	probably benign	Het
Pabpc4l	A	C	3: 46,400,783 (GRCm39)	I287S	probably benign	Het
Pcdha2	C	T	18: 37,073,428 (GRCm39)	T353M	possibly damaging	Het
Plekha1	T	C	7: 130,510,199 (GRCm39)	I315T	unknown	Het
Ppp2r2b	C	T	18: 42,870,993 (GRCm39)	A106T	probably benign	Het
Prkch	T	C	12: 73,742,973 (GRCm39)	V209A	probably damaging	Het
Ptprc	A	G	1: 138,028,930 (GRCm39)	C284R	probably damaging	Het
Ptprf	A	G	4: 118,083,671 (GRCm39)	V804A	probably benign	Het
Rbp3	C	T	14: 33,684,360 (GRCm39)	R1130*	probably null	Het
Serpina6	C	G	12: 103,617,988 (GRCm39)	R275P	probably damaging	Het
Six3	T	A	17: 85,931,164 (GRCm39)	H273Q	probably benign	Het
Stk35	C	A	2: 129,652,509 (GRCm39)	P337T	probably damaging	Het
Supt5	A	G	7: 28,037,848 (GRCm39)	S2P	unknown	Het
Tnik	A	G	3: 28,719,920 (GRCm39)	Y1264C	probably damaging	Het
Trim45	A	G	3: 100,838,960 (GRCm39)	T621A	unknown	Het
Tyrp1	T	C	4: 80,763,094 (GRCm39)	L327P	probably damaging	Het
Vmn2r69	A	C	7: 85,060,307 (GRCm39)	S426A	probably benign	Het

Other mutations in Nkx6-1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00232:Nkx6-1	APN	5	101,807,371 (GRCm39)	missense	possibly damaging	0.91
IGL01670:Nkx6-1	APN	5	101,809,806 (GRCm39)	missense	probably benign	0.26
R2991:Nkx6-1	UTSW	5	101,807,401 (GRCm39)	missense	probably damaging	1.00
R4134:Nkx6-1	UTSW	5	101,807,371 (GRCm39)	missense	probably damaging	0.96
R4135:Nkx6-1	UTSW	5	101,807,371 (GRCm39)	missense	probably damaging	0.96
R5439:Nkx6-1	UTSW	5	101,809,698 (GRCm39)	critical splice donor site	probably null
R5511:Nkx6-1	UTSW	5	101,811,532 (GRCm39)	missense	probably damaging	1.00
R5914:Nkx6-1	UTSW	5	101,811,847 (GRCm39)	missense	unknown
R6406:Nkx6-1	UTSW	5	101,811,677 (GRCm39)	missense	unknown
R6463:Nkx6-1	UTSW	5	101,807,342 (GRCm39)	missense	probably damaging	0.97
R7261:Nkx6-1	UTSW	5	101,812,006 (GRCm39)	missense	unknown
R7795:Nkx6-1	UTSW	5	101,811,628 (GRCm39)	missense	unknown
R7950:Nkx6-1	UTSW	5	101,811,465 (GRCm39)	missense	probably damaging	0.97
R8696:Nkx6-1	UTSW	5	101,807,513 (GRCm39)	missense	possibly damaging	0.94
R8835:Nkx6-1	UTSW	5	101,811,971 (GRCm39)	missense	unknown
R8999:Nkx6-1	UTSW	5	101,812,082 (GRCm39)	missense	unknown

Predicted Primers

PCR Primer
(F):5'- GTTATGTGAGCCCAAAGGTGG -3'
(R):5'- GGTACGTCTTGCTGATTTCCCG -3'

Sequencing Primer
(F):5'- CCAAAGGTGGGGAGGGC -3'
(R):5'- AGCGCCTGGGATCGAATC -3'

Posted On

2021-10-11