Mutagenetix > Incidental Mutation

Incidental Mutation 'R2230:Nkx2-1'

240008

Institutional Source

Beutler Lab

Gene Symbol

Nkx2-1

Ensembl Gene

ENSMUSG00000001496

Gene Name

NK2 homeobox 1

Synonyms

Titf1, thyroid transcription factor-1, thyroid-specific enhancer-binding protein, tinman, T/EBP, Ttf-1

MMRRC Submission

040231-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R2230 (G1)

Quality Score

121

Status

Validated

Chromosome

Chromosomal Location

56578741-56583570 bp(-) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

G to A at 56580071 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Stop codon at position 290 (Q290*)

Ref Sequence

ENSEMBL: ENSMUSP00000136103 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000001536] [ENSMUST00000178477]

AlphaFold

P50220

Predicted Effect

probably null
Transcript: ENSMUST00000001536
AA Change: Q290*

SMART Domains

Protein: ENSMUSP00000001536
Gene: ENSMUSG00000001496
AA Change: Q290*

Domain	Start	End	E-Value	Type
low complexity region	39	69	N/A	INTRINSIC
low complexity region	133	147	N/A	INTRINSIC
HOX	161	223	9.05e-25	SMART
low complexity region	224	254	N/A	INTRINSIC
low complexity region	273	323	N/A	INTRINSIC
low complexity region	346	356	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000178477
AA Change: Q290*

SMART Domains

Protein: ENSMUSP00000136103
Gene: ENSMUSG00000001496
AA Change: Q290*

Domain	Start	End	E-Value	Type
low complexity region	39	69	N/A	INTRINSIC
low complexity region	133	147	N/A	INTRINSIC
HOX	161	223	9.05e-25	SMART
low complexity region	224	254	N/A	INTRINSIC
low complexity region	273	323	N/A	INTRINSIC
low complexity region	346	356	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000182105

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000182733

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000183231

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000218376

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000220379

Meta Mutation Damage Score

0.9753

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.0%

Validation Efficiency

100% (62/62)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein initially identified as a thyroid-specific transcription factor. The encoded protein binds to the thyroglobulin promoter and regulates the expression of thyroid-specific genes but has also been shown to regulate the expression of genes involved in morphogenesis. Mutations and deletions in this gene are associated with benign hereditary chorea, choreoathetosis, congenital hypothyroidism, and neonatal respiratory distress, and may be associated with thyroid cancer. Multiple transcript variants encoding different isoforms have been found for this gene. This gene shares the symbol/alias 'TTF1' with another gene, transcription termination factor 1, which plays a role in ribosomal gene transcription. [provided by RefSeq, Feb 2014]
PHENOTYPE: Homozygotes for a targeted mutation have profoundly abnormal lungs and ventral forebrain defects, lack thyroids, pituitary gland, and tracheoesophageal septation, and die at birth from respiratory failure. Carriers show incoordination and high TSH. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam12	A	T	7: 133,521,347 (GRCm39)	N280K	probably damaging	Het
Adgrf4	C	T	17: 42,977,789 (GRCm39)	R518Q	possibly damaging	Het
Ankra2	T	C	13: 98,407,646 (GRCm39)	F199L	probably damaging	Het
Ankrd63	A	G	2: 118,533,846 (GRCm39)		probably benign	Het
Apoa2	A	G	1: 171,053,340 (GRCm39)	K53R	probably benign	Het
Atr	A	G	9: 95,802,818 (GRCm39)	R1827G	probably damaging	Het
Ccdc61	T	C	7: 18,625,032 (GRCm39)	E502G	probably damaging	Het
Ccn2	T	A	10: 24,472,371 (GRCm39)	M138K	possibly damaging	Het
Cdon	T	C	9: 35,403,222 (GRCm39)		probably null	Het
Cyp2c68	T	A	19: 39,687,804 (GRCm39)	S398C	probably benign	Het
Cyp2e1	T	C	7: 140,344,827 (GRCm39)	S98P	probably damaging	Het
Dock2	T	A	11: 34,244,323 (GRCm39)	I1036F	probably damaging	Het
Entpd7	T	C	19: 43,710,255 (GRCm39)	V304A	probably benign	Het
Entrep2	G	A	7: 64,408,970 (GRCm39)	H475Y	probably damaging	Het
Ergic3	A	G	2: 155,859,736 (GRCm39)	T346A	probably damaging	Het
F2	T	C	2: 91,456,102 (GRCm39)	D553G	probably benign	Het
Fam227a	T	A	15: 79,499,582 (GRCm39)	Y591F	possibly damaging	Het
Gal3st1	T	C	11: 3,948,282 (GRCm39)	I163T	probably benign	Het
Gm10650	A	G	3: 127,833,412 (GRCm39)		noncoding transcript	Het
Gm21850	G	T	2: 153,900,248 (GRCm39)	V202L	probably benign	Het
Hdc	T	A	2: 126,435,938 (GRCm39)	E644D	possibly damaging	Het
Hypk	G	A	2: 121,287,773 (GRCm39)		probably null	Het
Kif21a	G	A	15: 90,869,565 (GRCm39)	Q429*	probably null	Het
Mgll	G	A	6: 88,802,714 (GRCm39)	V318M	possibly damaging	Het
Mrgprb3	T	C	7: 48,292,770 (GRCm39)	I260M	probably benign	Het
Musk	A	T	4: 58,333,672 (GRCm39)	I256F	possibly damaging	Het
Myl3	T	C	9: 110,596,979 (GRCm39)	L113P	probably damaging	Het
Myo5c	A	G	9: 75,180,888 (GRCm39)	D759G	probably benign	Het
Oaz3	T	C	3: 94,341,846 (GRCm39)	T130A	probably benign	Het
Or10j7	A	G	1: 173,011,182 (GRCm39)	I273T	probably benign	Het
Or4c3d	A	T	2: 89,882,569 (GRCm39)	F33Y	probably benign	Het
Or7g16	A	G	9: 18,727,021 (GRCm39)	S190P	probably damaging	Het
Or8c13	T	C	9: 38,091,442 (GRCm39)	T226A	probably benign	Het
Pabpc2	G	A	18: 39,908,123 (GRCm39)	V463I	probably benign	Het
Piezo2	A	T	18: 63,278,143 (GRCm39)	C254S	probably damaging	Het
Plxnd1	C	A	6: 115,941,105 (GRCm39)	R1302L	probably damaging	Het
Pnpla7	T	C	2: 24,941,610 (GRCm39)		probably benign	Het
Ppl	G	A	16: 4,906,845 (GRCm39)	T1150I	possibly damaging	Het
Prkag2	G	T	5: 25,113,362 (GRCm39)	A113E	probably benign	Het
Proz	A	G	8: 13,113,356 (GRCm39)	Y59C	probably damaging	Het
Prr5	T	C	15: 84,586,981 (GRCm39)	S244P	probably benign	Het
Sec14l5	A	G	16: 4,994,345 (GRCm39)	T380A	probably damaging	Het
Snw1	A	G	12: 87,499,428 (GRCm39)	V391A	probably benign	Het
Sp2	C	T	11: 96,846,762 (GRCm39)	C527Y	probably damaging	Het
Sspo	A	G	6: 48,425,606 (GRCm39)	I76V	probably damaging	Het
Sspo	C	A	6: 48,477,437 (GRCm39)	Q5123K	probably benign	Het
Tbc1d21	A	C	9: 58,270,363 (GRCm39)	N137K	probably damaging	Het
Tek	G	A	4: 94,699,573 (GRCm39)	C317Y	probably damaging	Het
Tet3	T	C	6: 83,346,453 (GRCm39)	D1328G	probably damaging	Het
Topbp1	T	A	9: 103,223,047 (GRCm39)	I1377N	probably damaging	Het
Trmt9b	T	A	8: 36,979,707 (GRCm39)	C437S	probably damaging	Het
Ttf2	A	G	3: 100,865,260 (GRCm39)	V544A	probably damaging	Het
Ttn	A	T	2: 76,774,497 (GRCm39)	F2136L	probably damaging	Het
Ugt2b38	A	G	5: 87,569,527 (GRCm39)	F267L	probably benign	Het
Usb1	T	G	8: 96,070,674 (GRCm39)	L200R	probably damaging	Het
Vwa5a	G	A	9: 38,645,174 (GRCm39)	G420R	probably null	Het
Vwa8	T	C	14: 79,329,843 (GRCm39)		probably null	Het
Zfp708	A	T	13: 67,219,036 (GRCm39)	Y229*	probably null	Het
Zzef1	T	A	11: 72,775,242 (GRCm39)	M1745K	probably damaging	Het

Other mutations in Nkx2-1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R0617:Nkx2-1	UTSW	12	56,581,640 (GRCm39)	missense	possibly damaging	0.75
R1745:Nkx2-1	UTSW	12	56,580,529 (GRCm39)	missense	probably benign	0.00
R2209:Nkx2-1	UTSW	12	56,580,293 (GRCm39)	missense	probably benign	0.15
R4691:Nkx2-1	UTSW	12	56,580,350 (GRCm39)	missense	probably benign	0.01
R4990:Nkx2-1	UTSW	12	56,581,724 (GRCm39)	missense	possibly damaging	0.72
R4991:Nkx2-1	UTSW	12	56,581,724 (GRCm39)	missense	possibly damaging	0.72
R7216:Nkx2-1	UTSW	12	56,581,587 (GRCm39)	missense	probably damaging	1.00
R7316:Nkx2-1	UTSW	12	56,581,583 (GRCm39)	missense	probably benign	0.18
R8401:Nkx2-1	UTSW	12	56,579,841 (GRCm39)	missense	probably damaging	0.99
R8854:Nkx2-1	UTSW	12	56,580,206 (GRCm39)	missense	probably benign	0.21
R9172:Nkx2-1	UTSW	12	56,581,752 (GRCm39)	missense	probably damaging	0.97
R9655:Nkx2-1	UTSW	12	56,581,802 (GRCm39)	missense	probably damaging	1.00
RF006:Nkx2-1	UTSW	12	56,580,332 (GRCm39)	missense	probably damaging	1.00
Z1176:Nkx2-1	UTSW	12	56,581,749 (GRCm39)	missense	probably damaging	0.97
Z1176:Nkx2-1	UTSW	12	56,580,469 (GRCm39)	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- AAGACATGGCGCCATAGTC -3'
(R):5'- TACAAGATGAAGCGCCAGGC -3'

Sequencing Primer
(F):5'- GCCCGAGGAGTTCAGATG -3'
(R):5'- CAACTGCAGCAGGACAGCG -3'

Posted On

2014-10-15