Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02707:Pknox1'

304386

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Pknox1

Ensembl Gene

ENSMUSG00000006705

Gene Name

Pbx/knotted 1 homeobox

Synonyms

D17Wsu76e, PREP1

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL02707

Quality Score

Status

Chromosome

Chromosomal Location

31783708-31826667 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 31821793 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 295 (I295V)

Ref Sequence

ENSEMBL: ENSMUSP00000135804 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000097352] [ENSMUST00000175806] [ENSMUST00000176701]

AlphaFold

O70477

Predicted Effect

possibly damaging
Transcript: ENSMUST00000097352
AA Change: I295V

PolyPhen 2 Score 0.840 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000094966
Gene: ENSMUSG00000006705
AA Change: I295V

Domain	Start	End	E-Value	Type
Pfam:Meis_PKNOX_N	80	165	1.7e-39	PFAM
low complexity region	208	227	N/A	INTRINSIC
low complexity region	236	252	N/A	INTRINSIC
HOX	259	324	9.8e-12	SMART
low complexity region	404	415	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000175806
AA Change: I295V

PolyPhen 2 Score 0.840 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000134852
Gene: ENSMUSG00000006705
AA Change: I295V

Domain	Start	End	E-Value	Type
low complexity region	208	227	N/A	INTRINSIC
low complexity region	236	252	N/A	INTRINSIC
HOX	259	324	9.8e-12	SMART
low complexity region	404	415	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000175812

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000176513

Predicted Effect

possibly damaging
Transcript: ENSMUST00000176701
AA Change: I295V

PolyPhen 2 Score 0.840 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000135804
Gene: ENSMUSG00000006705
AA Change: I295V

Domain	Start	End	E-Value	Type
low complexity region	208	227	N/A	INTRINSIC
low complexity region	236	252	N/A	INTRINSIC
HOX	259	324	9.8e-12	SMART
low complexity region	404	415	N/A	INTRINSIC

Coding Region Coverage

Validation Efficiency

MGI Phenotype

PHENOTYPE: Homozygous mutation of this gene results in embryonic lethality during fetal growth and development with variable penetrance, decreased body weight, and impaired T cell development. [provided by MGI curators]

Allele List at MGI

All alleles(80) : Targeted, knock-out(1) Gene trapped(79)

Other mutations in this stock

Total: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700017B05Rik	T	C	9: 57,165,928 (GRCm39)	T149A	probably benign	Het
4932414N04Rik	A	C	2: 68,561,474 (GRCm39)	Q267P	possibly damaging	Het
Actr5	T	C	2: 158,478,617 (GRCm39)	V489A	probably benign	Het
Adam26b	T	C	8: 43,972,895 (GRCm39)		probably benign	Het
Aff4	A	G	11: 53,290,567 (GRCm39)	N509S	probably benign	Het
Arhgap22	C	T	14: 33,085,229 (GRCm39)		probably benign	Het
Arhgap9	C	A	10: 127,165,476 (GRCm39)	H628Q	probably damaging	Het
Asap1	A	T	15: 64,001,123 (GRCm39)	I486N	probably damaging	Het
Asb15	A	T	6: 24,558,787 (GRCm39)		probably benign	Het
Avil	A	G	10: 126,842,431 (GRCm39)	D70G	probably damaging	Het
Cct6b	T	C	11: 82,645,780 (GRCm39)		probably benign	Het
Cep63	A	T	9: 102,464,180 (GRCm39)	I717K	probably damaging	Het
Chd4	G	T	6: 125,085,730 (GRCm39)	A875S	probably damaging	Het
Col4a4	A	T	1: 82,471,237 (GRCm39)	M706K	unknown	Het
Cr1l	T	C	1: 194,806,019 (GRCm39)	T155A	probably benign	Het
Ctnna3	A	G	10: 63,339,844 (GRCm39)	N10S	probably benign	Het
Cubn	A	G	2: 13,450,843 (GRCm39)	V854A	probably damaging	Het
Dgkh	T	C	14: 78,823,091 (GRCm39)	T845A	possibly damaging	Het
F10	G	A	8: 13,098,252 (GRCm39)	A152T	probably damaging	Het
Gabrg3	C	A	7: 56,632,439 (GRCm39)	E170*	probably null	Het
Heatr5a	A	G	12: 51,968,149 (GRCm39)	V829A	probably benign	Het
Htt	T	A	5: 34,987,225 (GRCm39)		probably null	Het
Icam4	T	C	9: 20,941,770 (GRCm39)	Y257H	possibly damaging	Het
Jph1	A	G	1: 17,074,675 (GRCm39)	S448P	probably benign	Het
Kansl1l	G	A	1: 66,812,604 (GRCm39)	L125F	probably damaging	Het
Kifc1	A	T	17: 34,100,467 (GRCm39)	C46*	probably null	Het
Lce3b	A	G	3: 92,841,193 (GRCm39)	D96G	unknown	Het
Mab21l1	A	T	3: 55,690,505 (GRCm39)	I31F	possibly damaging	Het
Mctp2	A	G	7: 71,909,089 (GRCm39)	Y75H	possibly damaging	Het
Mesp2	A	G	7: 79,461,274 (GRCm39)	I200V	probably benign	Het
Msr1	T	C	8: 40,085,870 (GRCm39)		probably benign	Het
Mtfr2	C	T	10: 20,224,084 (GRCm39)	T6I	probably benign	Het
Myo5b	T	C	18: 74,828,438 (GRCm39)		probably benign	Het
Myoc	T	A	1: 162,467,029 (GRCm39)	I66N	probably benign	Het
Or10d1b	T	C	9: 39,613,937 (GRCm39)	I43V	probably damaging	Het
Or4a70	A	T	2: 89,324,171 (GRCm39)	Y162N	probably damaging	Het
Or51k1	A	C	7: 103,661,609 (GRCm39)	L100W	probably damaging	Het
Or52n20	T	C	7: 104,320,136 (GRCm39)	C76R	probably damaging	Het
Or52n2b	A	G	7: 104,565,859 (GRCm39)	C215R	probably damaging	Het
Or7a39	T	C	10: 78,715,759 (GRCm39)	L251S	probably damaging	Het
Per2	T	C	1: 91,378,450 (GRCm39)	D33G	possibly damaging	Het
Rgs11	G	A	17: 26,426,605 (GRCm39)	V279I	probably benign	Het
Rhot2	A	G	17: 26,063,270 (GRCm39)	S19P	probably damaging	Het
Rps6kb1	C	A	11: 86,426,236 (GRCm39)		probably null	Het
Serpinb1b	C	T	13: 33,275,648 (GRCm39)	T194I	probably benign	Het
Smarcad1	T	A	6: 65,029,790 (GRCm39)		probably benign	Het
Stxbp4	A	G	11: 90,428,759 (GRCm39)	S449P	probably benign	Het
Thrb	A	C	14: 18,026,721 (GRCm38)	I275L	probably benign	Het
Tjp1	T	A	7: 64,979,431 (GRCm39)	K365*	probably null	Het
Tjp1	T	A	7: 64,979,430 (GRCm39)	K365I	possibly damaging	Het
Tm4sf4	C	A	3: 57,333,939 (GRCm39)	C75*	probably null	Het
Tmem131	T	C	1: 36,864,560 (GRCm39)	T558A	probably benign	Het
Txndc16	T	C	14: 45,399,730 (GRCm39)	T408A	probably benign	Het
Ube2j1	T	C	4: 33,038,206 (GRCm39)	L38P	possibly damaging	Het
Urb2	T	C	8: 124,757,425 (GRCm39)	I1044T	probably benign	Het

Other mutations in Pknox1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00331:Pknox1	APN	17	31,818,619 (GRCm39)	critical splice donor site	probably null
IGL01830:Pknox1	APN	17	31,814,284 (GRCm39)	missense	probably benign	0.21
IGL02070:Pknox1	APN	17	31,822,339 (GRCm39)	splice site	probably benign
IGL02309:Pknox1	APN	17	31,809,683 (GRCm39)	missense	probably benign	0.34
3-1:Pknox1	UTSW	17	31,807,436 (GRCm39)	missense	probably benign	0.02
R0001:Pknox1	UTSW	17	31,818,610 (GRCm39)	missense	probably damaging	0.98
R0147:Pknox1	UTSW	17	31,823,764 (GRCm39)	missense	probably benign	0.01
R0148:Pknox1	UTSW	17	31,823,764 (GRCm39)	missense	probably benign	0.01
R0388:Pknox1	UTSW	17	31,822,166 (GRCm39)	missense	probably damaging	1.00
R0443:Pknox1	UTSW	17	31,811,193 (GRCm39)	missense	probably damaging	1.00
R0920:Pknox1	UTSW	17	31,815,865 (GRCm39)	missense	probably damaging	0.99
R1428:Pknox1	UTSW	17	31,811,066 (GRCm39)	splice site	probably benign
R1563:Pknox1	UTSW	17	31,814,256 (GRCm39)	missense	probably damaging	1.00
R4199:Pknox1	UTSW	17	31,821,790 (GRCm39)	missense	probably damaging	0.96
R4200:Pknox1	UTSW	17	31,818,584 (GRCm39)	missense	probably benign	0.04
R4665:Pknox1	UTSW	17	31,814,300 (GRCm39)	critical splice donor site	probably null
R4700:Pknox1	UTSW	17	31,822,286 (GRCm39)	missense	probably damaging	1.00
R4764:Pknox1	UTSW	17	31,809,687 (GRCm39)	missense	possibly damaging	0.92
R5127:Pknox1	UTSW	17	31,809,713 (GRCm39)	missense	probably benign	0.00
R6220:Pknox1	UTSW	17	31,822,177 (GRCm39)	nonsense	probably null
R6712:Pknox1	UTSW	17	31,814,290 (GRCm39)	missense	probably benign	0.23
R6865:Pknox1	UTSW	17	31,807,534 (GRCm39)	missense	probably damaging	0.98
R7186:Pknox1	UTSW	17	31,822,172 (GRCm39)	missense	probably damaging	1.00
R8746:Pknox1	UTSW	17	31,809,624 (GRCm39)	missense	possibly damaging	0.83
R8781:Pknox1	UTSW	17	31,821,837 (GRCm39)	critical splice donor site	probably benign
R8865:Pknox1	UTSW	17	31,818,520 (GRCm39)	missense	probably benign	0.01
R9032:Pknox1	UTSW	17	31,822,229 (GRCm39)	missense	possibly damaging	0.48
R9085:Pknox1	UTSW	17	31,822,229 (GRCm39)	missense	possibly damaging	0.48
R9265:Pknox1	UTSW	17	31,809,672 (GRCm39)	missense	probably damaging	1.00
R9359:Pknox1	UTSW	17	31,822,229 (GRCm39)	missense	possibly damaging	0.48
R9401:Pknox1	UTSW	17	31,802,752 (GRCm39)	missense	probably benign	0.30
R9516:Pknox1	UTSW	17	31,822,183 (GRCm39)	missense	probably damaging	0.99

Posted On

2015-04-16