Mutagenetix > Incidental Mutation

Incidental Mutation 'R4764:Pknox1'

357138

Institutional Source

Beutler Lab

Gene Symbol

Pknox1

Ensembl Gene

ENSMUSG00000006705

Gene Name

Pbx/knotted 1 homeobox

Synonyms

D17Wsu76e, PREP1

MMRRC Submission

042405-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R4764 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

31783708-31826667 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 31809687 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Aspartic acid at position 97 (V97D)

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: V97D

PolyPhen 2 Score 0.919 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000094966
Gene: ENSMUSG00000006705
AA Change: V97D

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

noncoding transcript
Transcript: ENSMUST00000175709

Predicted Effect

possibly damaging
Transcript: ENSMUST00000175806
AA Change: V97D

PolyPhen 2 Score 0.919 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000134852
Gene: ENSMUSG00000006705
AA Change: V97D

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

possibly damaging
Transcript: ENSMUST00000176701
AA Change: V97D

PolyPhen 2 Score 0.919 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000135804
Gene: ENSMUSG00000006705
AA Change: V97D

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: ENSMUST00000176895

Meta Mutation Damage Score

0.1795

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.1%
20x: 94.9%

Validation Efficiency

99% (78/79)

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: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700001J03Rik	T	G	5: 146,122,029 (GRCm39)	S18R	probably benign	Het
2010315B03Rik	A	C	9: 124,056,396 (GRCm39)	V176G	probably benign	Het
Abcb1a	T	A	5: 8,765,732 (GRCm39)		probably null	Het
Acad11	C	A	9: 103,953,076 (GRCm39)	P102T	probably damaging	Het
Aggf1	T	A	13: 95,501,221 (GRCm39)	D387V	probably damaging	Het
Akr1c13	G	A	13: 4,248,496 (GRCm39)	V234I	probably benign	Het
Alg5	A	G	3: 54,653,894 (GRCm39)	Y210C	possibly damaging	Het
Arl8a	C	A	1: 135,074,837 (GRCm39)	A41E	probably benign	Het
Axin1	C	A	17: 26,392,730 (GRCm39)	T337K	possibly damaging	Het
Bdp1	A	G	13: 100,192,775 (GRCm39)	L1353P	probably damaging	Het
Bptf	A	T	11: 106,934,520 (GRCm39)	V2851E	probably damaging	Het
C9	A	T	15: 6,489,124 (GRCm39)	E160D	probably damaging	Het
Cbx6	T	C	15: 79,712,881 (GRCm39)	D182G	probably damaging	Het
Cep57l1	T	C	10: 41,597,678 (GRCm39)	R242G	possibly damaging	Het
Chst8	T	C	7: 34,375,149 (GRCm39)	D230G	probably damaging	Het
Col3a1	A	C	1: 45,385,270 (GRCm39)	D129A	probably damaging	Het
Cst12	A	G	2: 148,631,393 (GRCm39)	E38G	possibly damaging	Het
Disp1	G	T	1: 182,869,660 (GRCm39)	A920E	probably damaging	Het
Dtna	T	G	18: 23,668,206 (GRCm39)		probably null	Het
Elp3	T	A	14: 65,820,378 (GRCm39)	H97L	probably damaging	Het
Exoc8	A	G	8: 125,624,314 (GRCm39)	F18L	possibly damaging	Het
Extl3	T	C	14: 65,314,769 (GRCm39)	T138A	probably benign	Het
Foxi2	G	T	7: 135,012,396 (GRCm39)	G95C	probably damaging	Het
Foxj2	G	T	6: 122,810,230 (GRCm39)	Q196H	probably benign	Het
Frem1	A	T	4: 82,907,426 (GRCm39)	D811E	probably damaging	Het
Frmd4a	A	T	2: 4,608,259 (GRCm39)	E709V	probably damaging	Het
Fscn3	T	A	6: 28,436,200 (GRCm39)	*499K	probably null	Het
Galc	C	T	12: 98,209,003 (GRCm39)	G217D	possibly damaging	Het
Gm5592	G	T	7: 40,865,542 (GRCm39)		probably benign	Het
Gm57858	T	G	3: 36,064,809 (GRCm39)	*521C	probably null	Het
Hnrnpul1	A	G	7: 25,442,436 (GRCm39)	S269P	probably benign	Het
Hrh1	T	C	6: 114,457,496 (GRCm39)	V259A	probably benign	Het
Lef1	T	C	3: 130,978,382 (GRCm39)	S167P	probably benign	Het
Mtf2	T	C	5: 108,241,218 (GRCm39)	I248T	probably benign	Het
Muc2	C	T	7: 141,299,345 (GRCm39)	T130M	possibly damaging	Het
Myo16	T	C	8: 10,485,880 (GRCm39)	F653S	probably damaging	Het
Myo1e	T	C	9: 70,250,417 (GRCm39)		probably null	Het
Myo5a	G	T	9: 75,023,618 (GRCm39)		probably benign	Het
Nlrp1b	T	A	11: 71,073,489 (GRCm39)	D118V	probably damaging	Het
Npat	T	C	9: 53,483,920 (GRCm39)	F1412S	probably damaging	Het
Onecut3	G	T	10: 80,331,541 (GRCm39)	A234S	unknown	Het
Or1ad1	G	A	11: 50,875,602 (GRCm39)	E25K	probably benign	Het
Or8b37	T	G	9: 37,959,436 (GRCm39)	L306R	probably benign	Het
Osbpl6	T	A	2: 76,376,344 (GRCm39)	I73K	probably damaging	Het
Otog	C	T	7: 45,937,943 (GRCm39)	T1884I	probably benign	Het
Pax6	C	A	2: 105,526,847 (GRCm39)	P251Q	probably benign	Het
Pias4	A	G	10: 80,999,868 (GRCm39)	Y62H	possibly damaging	Het
Plekhf1	A	G	7: 37,921,022 (GRCm39)	V182A	probably damaging	Het
Plscr4	T	C	9: 92,366,833 (GRCm39)	V149A	probably damaging	Het
Polr2l	A	T	7: 141,053,309 (GRCm39)	L35Q	probably damaging	Het
Ppp3ca	T	C	3: 136,596,250 (GRCm39)	I305T	probably damaging	Het
Ptprg	G	A	14: 12,122,068 (GRCm38)	A311T	probably benign	Het
Raet1e	T	G	10: 22,057,231 (GRCm39)	I185R	probably damaging	Het
Rims1	A	C	1: 22,518,543 (GRCm39)	V520G	probably damaging	Het
Rp1	A	T	1: 4,416,101 (GRCm39)	D1670E	probably damaging	Het
Rps6ka1	A	T	4: 133,587,868 (GRCm39)	I352N	probably damaging	Het
Rtp3	T	C	9: 110,816,418 (GRCm39)		probably benign	Het
Ryr3	T	A	2: 112,563,376 (GRCm39)		probably null	Het
Sall3	A	G	18: 81,017,691 (GRCm39)	V79A	probably damaging	Het
Sdsl	C	T	5: 120,600,119 (GRCm39)	V93M	probably damaging	Het
Slc7a13	A	G	4: 19,819,390 (GRCm39)	N197D	probably benign	Het
Slit1	T	A	19: 41,709,483 (GRCm39)	R137*	probably null	Het
Stxbp5	C	A	10: 9,646,367 (GRCm39)	R115L	probably damaging	Het
Tcea1	G	A	1: 4,965,167 (GRCm39)	R290H	probably damaging	Het
Tmem132e	A	T	11: 82,325,338 (GRCm39)	T113S	probably damaging	Het
Tpp1	A	T	7: 105,398,458 (GRCm39)	I286N	probably damaging	Het
Trio	G	A	15: 27,732,624 (GRCm39)	R3086*	probably null	Het
Usp22	T	A	11: 61,051,462 (GRCm39)	N294Y	probably damaging	Het
Usp44	T	A	10: 93,681,933 (GRCm39)	S128T	probably benign	Het
Zc3h7b	T	C	15: 81,653,384 (GRCm39)		probably null	Het
Zfhx2	T	C	14: 55,304,372 (GRCm39)	Y1204C	possibly damaging	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
IGL02707:Pknox1	APN	17	31,821,793 (GRCm39)	missense	possibly damaging	0.84
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
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

Predicted Primers

PCR Primer
(F):5'- CATTGGTGCACACATCCCAGAG -3'
(R):5'- TTTGCAGATGCCGGCTCAAG -3'

Sequencing Primer
(F):5'- GTGCACACATCCCAGAGTGTTC -3'
(R):5'- GCTCAAGCCTGTTTCTAAGATTAC -3'

Posted On

2015-11-11