Mutagenetix > Incidental Mutation

Incidental Mutation 'R8865:Pknox1'

675894

Institutional Source

Beutler Lab

Gene Symbol

Pknox1

Ensembl Gene

ENSMUSG00000006705

Gene Name

Pbx/knotted 1 homeobox

Synonyms

D17Wsu76e, PREP1

MMRRC Submission

Accession Numbers

Genbank: NM_016670; MGI: 1201409

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R8865 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

31564749-31607684 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 31599546 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 251 (I251T)

Ref Sequence

ENSEMBL: ENSMUSP00000094966 (fasta)

Gene Model

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

AlphaFold

O70477

Predicted Effect

probably benign
Transcript: ENSMUST00000097352
AA Change: I251T

PolyPhen 2 Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)

SMART Domains

Protein: ENSMUSP00000094966
Gene: ENSMUSG00000006705
AA Change: I251T

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

probably benign
Transcript: ENSMUST00000175806
AA Change: I251T

PolyPhen 2 Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)

SMART Domains

Protein: ENSMUSP00000134852
Gene: ENSMUSG00000006705
AA Change: I251T

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

probably benign
Transcript: ENSMUST00000176701
AA Change: I251T

PolyPhen 2 Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)

SMART Domains

Protein: ENSMUSP00000135804
Gene: ENSMUSG00000006705
AA Change: I251T

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

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.9%

Validation Efficiency

100% (72/72)

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: 74 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts2	T	A	11: 50,781,744	Y606*	probably null	Het
Adgrb1	A	G	15: 74,543,658	I696V	possibly damaging	Het
Ass1	A	G	2: 31,520,395	Q406R	probably benign	Het
Calcoco2	GGGCCTTCTCTTTCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTTCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTTCTCCCAGGAGGCCTTCTCTTCC	GGGCCTTCTCTTTCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTTCTCCCAGGAGGCCTTCTCTTCC	11: 96,099,982		probably benign	Het
Ccdc148	T	C	2: 58,829,820	K409R	possibly damaging	Het
Ccnl1	A	T	3: 65,946,848	S451T	probably benign	Het
Cdc123	T	C	2: 5,795,424		probably benign	Het
Cep192	T	C	18: 67,834,632	V729A	probably benign	Het
Chd6	G	A	2: 161,021,069	A444V	probably benign	Het
Chl1	A	G	6: 103,708,861	K898E	probably damaging	Het
Chrng	T	C	1: 87,207,497	V154A	probably damaging	Het
Cog1	T	G	11: 113,658,498	M799R	probably benign	Het
Col4a3	G	A	1: 82,669,762		probably null	Het
Coro6	C	A	11: 77,469,091	T366K	probably damaging	Het
Cwh43	G	A	5: 73,441,359	M640I	probably benign	Het
Cyp2c55	A	G	19: 39,031,434	E272G	probably benign	Het
Cyp4f39	A	G	17: 32,483,297	Y256C	probably damaging	Het
Dbx2	G	A	15: 95,632,400	R229*	probably null	Het
Dcdc2a	C	T	13: 25,202,283	A380V	probably benign	Het
En1	G	T	1: 120,603,000		probably benign	Het
F3	T	A	3: 121,729,411	V90E	probably damaging	Het
Fam171a1	A	G	2: 3,225,903	K691R	probably damaging	Het
Foxp2	C	T	6: 15,415,094	A609V	unknown	Het
Hemgn	A	T	4: 46,396,682	S185T	possibly damaging	Het
Hk1	C	T	10: 62,315,515	D33N	probably benign	Het
Igfbp1	T	A	11: 7,201,929	V244D	probably damaging	Het
Insr	A	T	8: 3,161,358	D1160E	probably damaging	Het
Irs1	A	T	1: 82,288,109	Y795*	probably null	Het
Krtap28-10	T	C	1: 83,042,087	K111E	unknown	Het
Lbx1	T	G	19: 45,235,166	D21A	probably benign	Het
Map6	G	T	7: 99,268,985	A322S	probably benign	Het
Mat1a	T	C	14: 41,121,831	Y336H	probably damaging	Het
Mcf2l	A	G	8: 12,880,003	I8V	probably benign	Het
Med12l	T	C	3: 59,071,882	V276A	probably benign	Het
Mettl17	A	G	14: 51,884,851		probably benign	Het
Mllt1	T	C	17: 56,900,295	D183G	possibly damaging	Het
Msmb	T	A	14: 32,150,260	C69*	probably null	Het
Mterf1a	A	G	5: 3,891,425	S148P	probably damaging	Het
Mybl2	A	G	2: 163,080,733	I583V	probably benign	Het
Nbr1	T	A	11: 101,564,694	D91E	probably benign	Het
Notch3	A	G	17: 32,122,116	Y2221H	probably benign	Het
Npat	C	A	9: 53,570,640	T1216N	probably benign	Het
Olfr1082	C	A	2: 86,594,400	V143F	possibly damaging	Het
Olfr127	T	C	17: 37,904,224	L226P	probably damaging	Het
Olfr137	T	A	17: 38,304,981	H160L	probably damaging	Het
Pawr	T	A	10: 108,382,742	Y170N	probably damaging	Het
Pde12	T	C	14: 26,669,125	D143G	possibly damaging	Het
Phactr2	A	G	10: 13,253,732	I264T	probably benign	Het
Pip5k1b	A	G	19: 24,397,058	L53P	probably damaging	Het
Plcxd1	A	T	5: 110,101,975		probably benign	Het
Polr3c	C	T	3: 96,715,201		probably benign	Het
Ppil2	T	C	16: 17,097,405	N113S	probably benign	Het
Pramel4	G	C	4: 144,068,482	G483R	probably damaging	Het
Prdm10	T	C	9: 31,327,397	L195P	probably damaging	Het
Prss16	A	T	13: 22,003,005	L465Q	possibly damaging	Het
Psg25	G	T	7: 18,529,594	H101Q	possibly damaging	Het
Pstpip2	A	G	18: 77,846,408	D55G	possibly damaging	Het
Rfc1	A	T	5: 65,278,792	D636E	possibly damaging	Het
Scarf2	G	T	16: 17,803,110	C214F	probably damaging	Het
Sirt4	T	C	5: 115,482,645	E156G	probably damaging	Het
Spag6	C	T	2: 18,734,117	S286L	probably benign	Het
Stx17	T	A	4: 48,183,444	H267Q	unknown	Het
Tekt3	T	C	11: 63,070,232	C76R	probably benign	Het
Tln1	A	T	4: 43,538,281	V1807E	possibly damaging	Het
Tnfrsf21	A	G	17: 43,085,481	D552G	probably damaging	Het
Ttn	C	A	2: 76,730,320	V29246L	possibly damaging	Het
Usp43	C	A	11: 67,898,962	C252F	probably damaging	Het
Vmn2r16	T	C	5: 109,340,044	I261T	probably benign	Het
Vwa5b1	T	C	4: 138,581,219	E769G	probably benign	Het
Xrn1	T	A	9: 95,991,193	F670Y	probably benign	Het
Zc3h7b	G	A	15: 81,772,480	R166Q	probably benign	Het
Zdhhc14	A	T	17: 5,725,295	Y274F	possibly damaging	Het
Zeb2	T	A	2: 44,996,127	M973L	probably benign	Het
Zfp638	T	C	6: 83,977,053	V1380A	possibly damaging	Het

Other mutations in Pknox1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00331:Pknox1	APN	17	31599645	critical splice donor site	probably null
IGL01830:Pknox1	APN	17	31595310	missense	probably benign	0.21
IGL02070:Pknox1	APN	17	31603365	splice site	probably benign
IGL02309:Pknox1	APN	17	31590709	missense	probably benign	0.34
IGL02707:Pknox1	APN	17	31602819	missense	possibly damaging	0.84
3-1:Pknox1	UTSW	17	31588462	missense	probably benign	0.02
R0001:Pknox1	UTSW	17	31599636	missense	probably damaging	0.98
R0147:Pknox1	UTSW	17	31604790	missense	probably benign	0.01
R0148:Pknox1	UTSW	17	31604790	missense	probably benign	0.01
R0388:Pknox1	UTSW	17	31603192	missense	probably damaging	1.00
R0443:Pknox1	UTSW	17	31592219	missense	probably damaging	1.00
R0920:Pknox1	UTSW	17	31596891	missense	probably damaging	0.99
R1428:Pknox1	UTSW	17	31592092	splice site	probably benign
R1563:Pknox1	UTSW	17	31595282	missense	probably damaging	1.00
R4199:Pknox1	UTSW	17	31602816	missense	probably damaging	0.96
R4200:Pknox1	UTSW	17	31599610	missense	probably benign	0.04
R4665:Pknox1	UTSW	17	31595326	critical splice donor site	probably null
R4700:Pknox1	UTSW	17	31603312	missense	probably damaging	1.00
R4764:Pknox1	UTSW	17	31590713	missense	possibly damaging	0.92
R5127:Pknox1	UTSW	17	31590739	missense	probably benign	0.00
R6220:Pknox1	UTSW	17	31603203	nonsense	probably null
R6712:Pknox1	UTSW	17	31595316	missense	probably benign	0.23
R6865:Pknox1	UTSW	17	31588560	missense	probably damaging	0.98
R7186:Pknox1	UTSW	17	31603198	missense	probably damaging	1.00
R8746:Pknox1	UTSW	17	31590650	missense	possibly damaging	0.83
R8781:Pknox1	UTSW	17	31602863	critical splice donor site	probably benign
R9032:Pknox1	UTSW	17	31603255	missense	possibly damaging	0.48
R9085:Pknox1	UTSW	17	31603255	missense	possibly damaging	0.48
R9265:Pknox1	UTSW	17	31590698	missense	probably damaging	1.00
R9359:Pknox1	UTSW	17	31603255	missense	possibly damaging	0.48
R9401:Pknox1	UTSW	17	31583778	missense	probably benign	0.30
R9516:Pknox1	UTSW	17	31603209	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- CTTAGTCCGTACAGGGTTTCAGC -3'
(R):5'- CCATGGCCACAGCATAGTATC -3'

Sequencing Primer
(F):5'- TACAGGGTTTCAGCACATGC -3'
(R):5'- TGCAATAAATACAAGTCAGTTTCCCC -3'

Posted On

2021-07-15