Mutagenetix > Incidental Mutation

Incidental Mutation 'R6155:Nkx1-1'

489512

Institutional Source

Beutler Lab

Gene Symbol

Nkx1-1

Ensembl Gene

ENSMUSG00000029112

Gene Name

NK1 homeobox 1

Synonyms

Nkx-1.1, Sax2

MMRRC Submission

044302-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.838) question?

Stock #

R6155 (G1)

Quality Score

220.009

Status

Not validated

Chromosome

Chromosomal Location

33588078-33591320 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 33588395 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Isoleucine at position 298 (F298I)

Ref Sequence

ENSEMBL: ENSMUSP00000133620 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000173348]

AlphaFold

G3UXB3

Predicted Effect

probably damaging
Transcript: ENSMUST00000173348
AA Change: F298I

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000133620
Gene: ENSMUSG00000029112
AA Change: F298I

Domain	Start	End	E-Value	Type
low complexity region	24	42	N/A	INTRINSIC
low complexity region	68	88	N/A	INTRINSIC
low complexity region	94	120	N/A	INTRINSIC
low complexity region	146	160	N/A	INTRINSIC
low complexity region	166	187	N/A	INTRINSIC
low complexity region	199	231	N/A	INTRINSIC
HOX	250	312	2.74e-24	SMART

Meta Mutation Damage Score

0.8929

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 97.9%
20x: 94.1%

Validation Efficiency

MGI Phenotype

PHENOTYPE: Mice homozygous for disruptions in this gene show poor growth and survival. Most die within the first three weeks of life. Those that reach adulthood are fertile but do not produce viable offspring. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcg3	T	C	5: 105,111,510 (GRCm39)	Y319C	probably benign	Het
Actn4	A	C	7: 28,595,566 (GRCm39)	I763S	probably damaging	Het
Actr8	G	A	14: 29,700,546 (GRCm39)		probably null	Het
Adrb1	T	C	19: 56,711,336 (GRCm39)	L178P	probably damaging	Het
Afap1	A	G	5: 36,092,953 (GRCm39)	Y19C	unknown	Het
Ankrd36	A	G	11: 5,637,442 (GRCm39)	E1337G	probably benign	Het
Arl4a	A	C	12: 40,086,519 (GRCm39)	V76G	probably damaging	Het
Bmp1	A	T	14: 70,745,447 (GRCm39)	I246K	probably damaging	Het
Camk4	A	T	18: 33,072,500 (GRCm39)	T18S	unknown	Het
Cep152	T	C	2: 125,423,620 (GRCm39)	H927R	probably benign	Het
Clca3a2	A	G	3: 144,525,118 (GRCm39)	I38T	probably damaging	Het
Clec2g	A	C	6: 128,957,236 (GRCm39)	T54P	probably damaging	Het
Cox20	A	G	1: 178,149,362 (GRCm39)	E31G	possibly damaging	Het
Crispld1	T	A	1: 17,823,241 (GRCm39)	H407Q	probably benign	Het
Csmd1	T	C	8: 15,953,231 (GRCm39)	I3417V	probably benign	Het
Dhtkd1	A	C	2: 5,915,170 (GRCm39)	H700Q	probably null	Het
Dnah10	G	A	5: 124,847,663 (GRCm39)	V1516M	probably damaging	Het
Dnah10	A	G	5: 124,862,239 (GRCm39)	T2165A	probably damaging	Het
Dock2	C	G	11: 34,244,123 (GRCm39)	M1072I	probably benign	Het
F11	T	A	8: 45,705,119 (GRCm39)	T141S	probably damaging	Het
Gabra6	T	A	11: 42,207,350 (GRCm39)	I245F	probably damaging	Het
H2-T5	G	A	17: 36,478,399 (GRCm39)	A211V	possibly damaging	Het
Herc1	T	A	9: 66,340,705 (GRCm39)	C1685S	possibly damaging	Het
Iftap	A	T	2: 101,406,355 (GRCm39)		probably null	Het
Il20	G	T	1: 130,838,477 (GRCm39)	D73E	probably damaging	Het
Ireb2	C	A	9: 54,793,811 (GRCm39)	P247Q	probably damaging	Het
Kcng3	T	C	17: 83,895,807 (GRCm39)	I220V	probably benign	Het
Lce1j	T	G	3: 92,696,379 (GRCm39)	Q133P	unknown	Het
Lgals9	C	T	11: 78,854,331 (GRCm39)	A287T	probably benign	Het
Lrrc52	A	G	1: 167,294,296 (GRCm39)		probably benign	Het
Map3k5	A	T	10: 19,994,187 (GRCm39)	H1027L	probably benign	Het
Morc3	A	G	16: 93,659,313 (GRCm39)	D407G	possibly damaging	Het
Myom1	T	C	17: 71,415,690 (GRCm39)		probably null	Het
Ncapg2	T	C	12: 116,401,631 (GRCm39)	F673S	possibly damaging	Het
Ncoa6	T	C	2: 155,249,368 (GRCm39)	D1312G	probably damaging	Het
Npas2	G	A	1: 39,326,557 (GRCm39)	R14Q	probably damaging	Het
Npas4	C	T	19: 5,036,898 (GRCm39)	C422Y	probably damaging	Het
Or11h4	T	C	14: 50,974,076 (GRCm39)	D181G	probably benign	Het
Or2y11	T	A	11: 49,443,411 (GRCm39)	I279N	possibly damaging	Het
Or4c123	A	G	2: 89,126,765 (GRCm39)	L283S	probably damaging	Het
Or5p4	T	C	7: 107,680,493 (GRCm39)	V164A	probably benign	Het
Pcdhga4	T	C	18: 37,819,546 (GRCm39)	I365T	probably damaging	Het
Pear1	T	A	3: 87,666,875 (GRCm39)	T37S	probably damaging	Het
Pkn2	A	T	3: 142,559,454 (GRCm39)	F24I	probably benign	Het
Plcb3	G	A	19: 6,943,533 (GRCm39)	A122V	probably damaging	Het
Pnliprp1	T	C	19: 58,718,565 (GRCm39)		probably null	Het
Pramel28	T	A	4: 143,691,712 (GRCm39)	H337L	probably benign	Het
Psmb3	T	A	11: 97,603,278 (GRCm39)	F164I	probably damaging	Het
Ptch2	T	A	4: 116,954,105 (GRCm39)	F45Y	probably damaging	Het
Ptpn23	C	A	9: 110,216,849 (GRCm39)		probably benign	Het
Pusl1	A	G	4: 155,975,005 (GRCm39)	S199P	probably damaging	Het
Rasgrp2	C	A	19: 6,452,531 (GRCm39)	L35I	probably damaging	Het
Rictor	T	C	15: 6,823,458 (GRCm39)	L1545P	probably benign	Het
Rtn4r	A	T	16: 17,969,258 (GRCm39)	M229L	probably benign	Het
Ruvbl1	A	T	6: 88,456,107 (GRCm39)		probably null	Het
Slc35b3	A	T	13: 39,128,572 (GRCm39)	S30T	probably damaging	Het
Sorcs3	T	C	19: 48,387,136 (GRCm39)	V207A	possibly damaging	Het
Sox13	A	G	1: 133,321,005 (GRCm39)	S2P	probably damaging	Het
Sptbn1	A	C	11: 30,087,403 (GRCm39)	L999R	probably damaging	Het
Taf4	A	G	2: 179,555,317 (GRCm39)	V1015A	probably damaging	Het
Top3b	T	C	16: 16,709,373 (GRCm39)	L687P	probably damaging	Het
Tpp2	T	A	1: 43,995,649 (GRCm39)	V268E	probably damaging	Het
Ttc6	T	C	12: 57,784,402 (GRCm39)	Y1824H	possibly damaging	Het
Txk	A	G	5: 72,858,069 (GRCm39)	Y360H	probably damaging	Het
Vmn2r57	T	C	7: 41,078,114 (GRCm39)	I115V	probably benign	Het
Vmn2r98	T	C	17: 19,286,143 (GRCm39)	S214P	possibly damaging	Het
Zbtb48	T	C	4: 152,106,495 (GRCm39)		probably null	Het
Zzz3	A	G	3: 152,133,319 (GRCm39)	I126V	possibly damaging	Het

Other mutations in Nkx1-1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R1826:Nkx1-1	UTSW	5	33,591,277 (GRCm39)	missense	unknown
R2175:Nkx1-1	UTSW	5	33,588,598 (GRCm39)	missense	probably benign	0.10
R3735:Nkx1-1	UTSW	5	33,591,074 (GRCm39)	missense	unknown
R4973:Nkx1-1	UTSW	5	33,588,410 (GRCm39)	missense	possibly damaging	0.89
R6322:Nkx1-1	UTSW	5	33,588,389 (GRCm39)	missense	probably damaging	1.00
R6381:Nkx1-1	UTSW	5	33,591,320 (GRCm39)	start codon destroyed	probably null
R6675:Nkx1-1	UTSW	5	33,591,223 (GRCm39)	missense	unknown
R6831:Nkx1-1	UTSW	5	33,591,147 (GRCm39)	missense	unknown
R9153:Nkx1-1	UTSW	5	33,588,703 (GRCm39)	missense	unknown
R9168:Nkx1-1	UTSW	5	33,591,131 (GRCm39)	missense	unknown
R9470:Nkx1-1	UTSW	5	33,591,275 (GRCm39)	missense	unknown
Z1177:Nkx1-1	UTSW	5	33,588,839 (GRCm39)	missense	unknown

Predicted Primers

PCR Primer
(F):5'- TTAGAAAAGAGACGCCCATGC -3'
(R):5'- TTCCCCTGTGGACGATACTG -3'

Sequencing Primer
(F):5'- TCCTGGCACCGAGATTCAGAG -3'
(R):5'- CTGCAACTGCTACGGGAG -3'

Posted On

2017-10-10