Mutagenetix > Incidental Mutation

Incidental Mutation 'R1228:Phc3'

175024

Institutional Source

Beutler Lab

Gene Symbol

Phc3

Ensembl Gene

ENSMUSG00000037652

Gene Name

polyhomeotic 3

Synonyms

EDR3, E030046K01Rik, HPH3

MMRRC Submission

039297-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1228 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

30953520-31023564 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 30976404 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Lysine at position 721 (N721K)

Ref Sequence

ENSEMBL: ENSMUSP00000065617 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000046624] [ENSMUST00000064718] [ENSMUST00000108255] [ENSMUST00000129817] [ENSMUST00000152357] [ENSMUST00000168645] [ENSMUST00000177992]

AlphaFold

Q8CHP6

Predicted Effect

probably benign
Transcript: ENSMUST00000046624

SMART Domains

Protein: ENSMUSP00000037862
Gene: ENSMUSG00000037652

Domain	Start	End	E-Value	Type
low complexity region	18	40	N/A	INTRINSIC
low complexity region	72	89	N/A	INTRINSIC
low complexity region	92	142	N/A	INTRINSIC
low complexity region	152	166	N/A	INTRINSIC
low complexity region	206	224	N/A	INTRINSIC
low complexity region	333	359	N/A	INTRINSIC
low complexity region	393	419	N/A	INTRINSIC
low complexity region	512	538	N/A	INTRINSIC
low complexity region	564	578	N/A	INTRINSIC
low complexity region	583	594	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000064718
AA Change: N721K

PolyPhen 2 Score 0.712 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000065617
Gene: ENSMUSG00000037652
AA Change: N721K

Domain	Start	End	E-Value	Type
low complexity region	18	40	N/A	INTRINSIC
low complexity region	72	89	N/A	INTRINSIC
low complexity region	92	142	N/A	INTRINSIC
low complexity region	152	166	N/A	INTRINSIC
low complexity region	206	224	N/A	INTRINSIC
low complexity region	333	359	N/A	INTRINSIC
low complexity region	393	419	N/A	INTRINSIC
low complexity region	470	496	N/A	INTRINSIC
low complexity region	522	536	N/A	INTRINSIC
low complexity region	541	571	N/A	INTRINSIC
low complexity region	610	618	N/A	INTRINSIC
low complexity region	628	656	N/A	INTRINSIC
PDB:2L8E\|A	745	781	1e-8	PDB
low complexity region	849	868	N/A	INTRINSIC
SAM	884	951	4.04e-13	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000108255
AA Change: N718K

PolyPhen 2 Score 0.033 (Sensitivity: 0.95; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000103890
Gene: ENSMUSG00000037652
AA Change: N718K

Domain	Start	End	E-Value	Type
low complexity region	6	28	N/A	INTRINSIC
low complexity region	60	77	N/A	INTRINSIC
low complexity region	80	130	N/A	INTRINSIC
low complexity region	140	154	N/A	INTRINSIC
low complexity region	288	314	N/A	INTRINSIC
low complexity region	348	374	N/A	INTRINSIC
low complexity region	467	493	N/A	INTRINSIC
low complexity region	519	533	N/A	INTRINSIC
low complexity region	538	568	N/A	INTRINSIC
low complexity region	607	615	N/A	INTRINSIC
low complexity region	625	653	N/A	INTRINSIC
PDB:2L8E\|A	742	778	8e-9	PDB
low complexity region	846	865	N/A	INTRINSIC
SAM	881	948	4.04e-13	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000124472

Predicted Effect

probably benign
Transcript: ENSMUST00000129817
AA Change: N751K

PolyPhen 2 Score 0.196 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000114916
Gene: ENSMUSG00000037652
AA Change: N751K

Domain	Start	End	E-Value	Type
low complexity region	6	28	N/A	INTRINSIC
low complexity region	60	77	N/A	INTRINSIC
low complexity region	80	130	N/A	INTRINSIC
low complexity region	140	154	N/A	INTRINSIC
low complexity region	194	212	N/A	INTRINSIC
low complexity region	321	347	N/A	INTRINSIC
low complexity region	381	407	N/A	INTRINSIC
low complexity region	500	526	N/A	INTRINSIC
low complexity region	552	566	N/A	INTRINSIC
low complexity region	571	601	N/A	INTRINSIC
low complexity region	640	648	N/A	INTRINSIC
low complexity region	658	686	N/A	INTRINSIC
PDB:2L8E\|A	775	811	7e-9	PDB
low complexity region	879	898	N/A	INTRINSIC
SAM	914	980	1.7e-11	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000152357

SMART Domains

Protein: ENSMUSP00000117614
Gene: ENSMUSG00000037652

Domain	Start	End	E-Value	Type
low complexity region	18	40	N/A	INTRINSIC
low complexity region	72	89	N/A	INTRINSIC
low complexity region	92	142	N/A	INTRINSIC
low complexity region	152	166	N/A	INTRINSIC
low complexity region	201	222	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000168645
AA Change: N751K

PolyPhen 2 Score 0.196 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000130142
Gene: ENSMUSG00000037652
AA Change: N751K

Domain	Start	End	E-Value	Type
low complexity region	6	28	N/A	INTRINSIC
low complexity region	60	77	N/A	INTRINSIC
low complexity region	80	130	N/A	INTRINSIC
low complexity region	140	154	N/A	INTRINSIC
low complexity region	194	212	N/A	INTRINSIC
low complexity region	321	347	N/A	INTRINSIC
low complexity region	381	407	N/A	INTRINSIC
low complexity region	500	526	N/A	INTRINSIC
low complexity region	552	566	N/A	INTRINSIC
low complexity region	571	601	N/A	INTRINSIC
low complexity region	640	648	N/A	INTRINSIC
low complexity region	658	686	N/A	INTRINSIC
PDB:2L8E\|A	775	811	7e-9	PDB
low complexity region	879	898	N/A	INTRINSIC
SAM	914	980	1.6e-11	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000177992
AA Change: N718K

PolyPhen 2 Score 0.033 (Sensitivity: 0.95; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000136820
Gene: ENSMUSG00000037652
AA Change: N718K

Domain	Start	End	E-Value	Type
low complexity region	6	28	N/A	INTRINSIC
low complexity region	60	77	N/A	INTRINSIC
low complexity region	80	130	N/A	INTRINSIC
low complexity region	140	154	N/A	INTRINSIC
low complexity region	288	314	N/A	INTRINSIC
low complexity region	348	374	N/A	INTRINSIC
low complexity region	467	493	N/A	INTRINSIC
low complexity region	519	533	N/A	INTRINSIC
low complexity region	538	568	N/A	INTRINSIC
low complexity region	607	615	N/A	INTRINSIC
low complexity region	625	653	N/A	INTRINSIC
PDB:2L8E\|A	742	778	8e-9	PDB
low complexity region	846	865	N/A	INTRINSIC
SAM	881	948	4.04e-13	SMART

Coding Region Coverage

1x: 99.0%
3x: 98.2%
10x: 95.7%
20x: 90.7%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 23 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Bag6	T	A	17: 35,364,309 (GRCm39)	S863R	probably damaging	Het
Ccdc181	C	T	1: 164,113,960 (GRCm39)	R455*	probably null	Het
Clvs2	T	C	10: 33,498,600 (GRCm39)	N110S	probably benign	Het
Enpp1	T	A	10: 24,521,310 (GRCm39)	I806F	probably benign	Het
Entrep1	A	G	19: 23,956,829 (GRCm39)	S355P	probably benign	Het
Fli1	T	C	9: 32,335,139 (GRCm39)	Y431C	probably damaging	Het
Gtf3c3	C	T	1: 54,456,937 (GRCm39)	A488T	probably damaging	Het
Klhl25	C	T	7: 75,515,868 (GRCm39)	A258V	probably benign	Het
Krt13	T	C	11: 100,012,303 (GRCm39)	S7G	probably benign	Het
Pakap	T	A	4: 57,856,909 (GRCm39)	I787N	probably damaging	Het
Pappa	T	C	4: 65,258,926 (GRCm39)	F1558S	probably damaging	Het
Plxna4	A	T	6: 32,201,087 (GRCm39)		probably null	Het
Rabac1	T	C	7: 24,671,523 (GRCm39)		probably null	Het
Rims1	T	C	1: 22,511,837 (GRCm39)	D572G	probably null	Het
Rpia	T	C	6: 70,768,880 (GRCm39)	N85S	probably benign	Het
Sh3gl3	A	G	7: 81,824,723 (GRCm39)	M1V	probably null	Het
Skint6	T	C	4: 112,711,649 (GRCm39)	N956S	probably benign	Het
Sned1	G	A	1: 93,209,376 (GRCm39)	V830M	possibly damaging	Het
Sp110	G	A	1: 85,519,481 (GRCm39)	P116S	probably benign	Het
Spata7	T	C	12: 98,600,528 (GRCm39)	L47P	probably damaging	Het
Tcea2	G	T	2: 181,326,238 (GRCm39)	V81F	probably benign	Het
Ttbk1	A	T	17: 46,787,638 (GRCm39)		probably null	Het
Vmn2r77	G	A	7: 86,450,242 (GRCm39)		probably null	Het

Other mutations in Phc3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00924:Phc3	APN	3	30,990,624 (GRCm39)	missense	probably damaging	0.98
IGL00985:Phc3	APN	3	30,968,346 (GRCm39)	missense	probably benign	0.13
IGL01340:Phc3	APN	3	30,984,033 (GRCm39)	missense	possibly damaging	0.85
IGL01450:Phc3	APN	3	30,968,653 (GRCm39)	missense	probably damaging	1.00
IGL01546:Phc3	APN	3	31,015,888 (GRCm39)	missense	probably damaging	1.00
IGL01918:Phc3	APN	3	30,968,565 (GRCm39)	critical splice donor site	probably null
IGL02178:Phc3	APN	3	30,984,012 (GRCm39)	missense	possibly damaging	0.47
IGL02210:Phc3	APN	3	30,990,858 (GRCm39)	missense	probably damaging	0.99
IGL02330:Phc3	APN	3	30,990,530 (GRCm39)	missense	probably damaging	1.00
IGL02516:Phc3	APN	3	31,002,942 (GRCm39)	missense	probably damaging	1.00
IGL03030:Phc3	APN	3	30,991,002 (GRCm39)	missense	probably damaging	1.00
See_saw	UTSW	3	30,991,198 (GRCm39)	nonsense	probably null
R1239:Phc3	UTSW	3	30,968,279 (GRCm39)	missense	probably damaging	1.00
R1319:Phc3	UTSW	3	30,984,018 (GRCm39)	missense	probably damaging	0.97
R1521:Phc3	UTSW	3	30,990,724 (GRCm39)	missense	possibly damaging	0.89
R1772:Phc3	UTSW	3	31,015,969 (GRCm39)	missense	probably damaging	1.00
R1793:Phc3	UTSW	3	31,002,865 (GRCm39)	missense	probably damaging	1.00
R1879:Phc3	UTSW	3	30,968,607 (GRCm39)	missense	probably damaging	1.00
R2171:Phc3	UTSW	3	31,005,078 (GRCm39)	missense	probably damaging	1.00
R2419:Phc3	UTSW	3	31,005,027 (GRCm39)	missense	probably damaging	0.99
R2863:Phc3	UTSW	3	30,968,277 (GRCm39)	missense	probably damaging	0.99
R2864:Phc3	UTSW	3	30,968,277 (GRCm39)	missense	probably damaging	0.99
R3700:Phc3	UTSW	3	30,968,277 (GRCm39)	missense	probably damaging	1.00
R3980:Phc3	UTSW	3	30,991,080 (GRCm39)	missense	probably damaging	0.99
R4222:Phc3	UTSW	3	30,990,968 (GRCm39)	missense	probably damaging	1.00
R4223:Phc3	UTSW	3	30,990,968 (GRCm39)	missense	probably damaging	1.00
R4584:Phc3	UTSW	3	31,020,031 (GRCm39)	missense	possibly damaging	0.46
R4928:Phc3	UTSW	3	31,005,068 (GRCm39)	missense	probably damaging	1.00
R5100:Phc3	UTSW	3	30,976,348 (GRCm39)	missense	possibly damaging	0.71
R5340:Phc3	UTSW	3	30,961,616 (GRCm39)	missense	probably damaging	1.00
R5656:Phc3	UTSW	3	31,020,015 (GRCm39)	missense	probably damaging	0.98
R5840:Phc3	UTSW	3	30,990,732 (GRCm39)	missense	possibly damaging	0.95
R6022:Phc3	UTSW	3	30,984,174 (GRCm39)	missense	probably damaging	1.00
R6061:Phc3	UTSW	3	30,968,678 (GRCm39)	missense	probably damaging	1.00
R6177:Phc3	UTSW	3	30,996,714 (GRCm39)	missense	probably damaging	1.00
R6188:Phc3	UTSW	3	30,991,198 (GRCm39)	nonsense	probably null
R6866:Phc3	UTSW	3	30,968,680 (GRCm39)	nonsense	probably null
R6870:Phc3	UTSW	3	30,990,910 (GRCm39)	missense	probably damaging	1.00
R7155:Phc3	UTSW	3	30,968,346 (GRCm39)	missense	probably benign	0.01
R7603:Phc3	UTSW	3	30,961,601 (GRCm39)	missense	probably damaging	0.97
R7874:Phc3	UTSW	3	30,990,863 (GRCm39)	missense	probably benign	0.00
R8422:Phc3	UTSW	3	30,984,039 (GRCm39)	nonsense	probably null
R8877:Phc3	UTSW	3	30,968,271 (GRCm39)	missense	probably damaging	1.00
R8972:Phc3	UTSW	3	31,015,926 (GRCm39)	missense	possibly damaging	0.95
R9003:Phc3	UTSW	3	31,020,007 (GRCm39)	missense	possibly damaging	0.86
R9042:Phc3	UTSW	3	30,983,916 (GRCm39)	missense	unknown
R9155:Phc3	UTSW	3	30,968,691 (GRCm39)	missense	probably benign	0.01
R9168:Phc3	UTSW	3	30,961,544 (GRCm39)	missense	probably benign
X0025:Phc3	UTSW	3	31,020,035 (GRCm39)	missense	probably damaging	0.96
Z1176:Phc3	UTSW	3	30,990,746 (GRCm39)	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- GAGCTTGCCCTACCTAGACATCAAATC -3'
(R):5'- AGATAGCATTCATGCCAAAGGGGTC -3'

Sequencing Primer
(F):5'- GCTTGCCCATTATTCTAGTCAAATAC -3'
(R):5'- GAGTCGATCATCACTGCTGA -3'

Posted On

2014-04-24