Mutagenetix > Incidental Mutation

Incidental Mutation 'R7155:Phc3'

557196

Institutional Source

Beutler Lab

Gene Symbol

Phc3

Ensembl Gene

ENSMUSG00000037652

Gene Name

polyhomeotic 3

Synonyms

EDR3, E030046K01Rik, HPH3

MMRRC Submission

045226-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7155 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

30953520-31023564 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 30968346 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 897 (I897V)

Ref Sequence

ENSEMBL: ENSMUSP00000114916 (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

probably benign
Transcript: ENSMUST00000064718
AA Change: I867V

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000065617
Gene: ENSMUSG00000037652
AA Change: I867V

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: I864V

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000103890
Gene: ENSMUSG00000037652
AA Change: I864V

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

probably benign
Transcript: ENSMUST00000129817
AA Change: I897V

PolyPhen 2 Score 0.011 (Sensitivity: 0.96; Specificity: 0.78)

SMART Domains

Protein: ENSMUSP00000114916
Gene: ENSMUSG00000037652
AA Change: I897V

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: I897V

PolyPhen 2 Score 0.011 (Sensitivity: 0.96; Specificity: 0.78)

SMART Domains

Protein: ENSMUSP00000130142
Gene: ENSMUSG00000037652
AA Change: I897V

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: I864V

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000136820
Gene: ENSMUSG00000037652
AA Change: I864V

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: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.8%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 85 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4921509C19Rik	A	G	2: 151,315,489 (GRCm39)	L63P	possibly damaging	Het
Abca13	A	T	11: 9,479,010 (GRCm39)	Y4286F	probably benign	Het
Aldh5a1	A	C	13: 25,095,572 (GRCm39)	V515G	possibly damaging	Het
Ankrd42	T	C	7: 92,241,141 (GRCm39)	E406G	possibly damaging	Het
Arfgef2	T	A	2: 166,707,733 (GRCm39)	M1043K	probably benign	Het
Arhgef11	T	A	3: 87,616,879 (GRCm39)	Y383*	probably null	Het
Aste1	C	T	9: 105,282,335 (GRCm39)	P614L	probably damaging	Het
B3galt5	T	A	16: 96,117,005 (GRCm39)	S213T	probably damaging	Het
Bak1	A	G	17: 27,241,434 (GRCm39)	L108P	possibly damaging	Het
Bcl6	G	A	16: 23,784,976 (GRCm39)	R675*	probably null	Het
Bdp1	T	G	13: 100,197,659 (GRCm39)	T909P	possibly damaging	Het
Cacna1i	A	G	15: 80,279,439 (GRCm39)	H2060R	probably benign	Het
Cdhr3	G	T	12: 33,111,772 (GRCm39)	P246Q	probably damaging	Het
Colgalt1	T	C	8: 72,076,354 (GRCm39)	S602P	probably damaging	Het
Csde1	T	C	3: 102,947,269 (GRCm39)	S74P	probably damaging	Het
Cyp51	A	T	5: 4,137,846 (GRCm39)	C366S	possibly damaging	Het
Dcaf7	A	G	11: 105,928,016 (GRCm39)	N23D	probably damaging	Het
Ddx10	G	A	9: 53,028,588 (GRCm39)	A772V	probably benign	Het
Ddx4	A	G	13: 112,750,319 (GRCm39)	F404S	probably benign	Het
Dlg4	T	A	11: 69,908,042 (GRCm39)	M1K	probably null	Het
Dnajc6	T	C	4: 101,470,142 (GRCm39)	V293A	probably damaging	Het
Etl4	G	T	2: 20,811,742 (GRCm39)	R1643L	probably damaging	Het
F13b	G	A	1: 139,435,895 (GRCm39)	E234K	probably damaging	Het
Fam171a1	T	C	2: 3,226,766 (GRCm39)	I633T	probably benign	Het
Frem3	A	G	8: 81,342,668 (GRCm39)	I1654V	probably benign	Het
Galr2	A	G	11: 116,174,408 (GRCm39)	E346G	possibly damaging	Het
Gck	G	A	11: 5,899,705 (GRCm39)		probably benign	Het
Gen1	G	T	12: 11,291,833 (GRCm39)	T717K	probably benign	Het
Gpatch8	TTCCTCCTCCTCCTCTTCCTCCTCCTC	TTCCTCCTCCTCCTCCTCTTCCTCCTCCTC	11: 102,371,014 (GRCm39)		probably benign	Het
Hat1	A	G	2: 71,251,595 (GRCm39)	T215A	possibly damaging	Het
Hmbox1	A	T	14: 65,134,486 (GRCm39)	M38K	probably damaging	Het
Ifi47	A	G	11: 48,987,369 (GRCm39)	K379E	probably benign	Het
Ift81	T	C	5: 122,707,062 (GRCm39)	Y460C	probably damaging	Het
Jarid2	T	A	13: 45,055,938 (GRCm39)	S381R	probably damaging	Het
Kmt2b	A	T	7: 30,279,388 (GRCm39)	V1458E	probably damaging	Het
Kpna4	G	T	3: 68,997,266 (GRCm39)	P336Q	probably damaging	Het
Krt84	T	C	15: 101,440,689 (GRCm39)	R168G	probably damaging	Het
Lhx8	T	A	3: 154,030,221 (GRCm39)	Y137F	possibly damaging	Het
Lin7b	T	C	7: 45,019,651 (GRCm39)	E19G	probably damaging	Het
Lrmda	A	T	14: 22,634,608 (GRCm39)	R131S	probably damaging	Het
Lrrc75b	C	T	10: 75,389,512 (GRCm39)	A280T	possibly damaging	Het
Megf11	G	A	9: 64,555,233 (GRCm39)	R268K	probably null	Het
Mgat4e	G	T	1: 134,469,697 (GRCm39)	Q116K	probably damaging	Het
Mlkl	A	G	8: 112,046,035 (GRCm39)	L325P	probably damaging	Het
Mup2	A	G	4: 60,137,641 (GRCm39)	L134P	probably damaging	Het
Myo19	A	G	11: 84,791,412 (GRCm39)	E489G	probably damaging	Het
Ncbp3	C	A	11: 72,938,835 (GRCm39)	P37Q	probably damaging	Het
Nf2	A	G	11: 4,749,964 (GRCm39)	V236A	probably damaging	Het
Nlrp1a	A	T	11: 71,014,905 (GRCm39)	M115K	possibly damaging	Het
Nsf	T	A	11: 103,719,356 (GRCm39)	K649*	probably null	Het
Olfml2b	A	T	1: 170,494,354 (GRCm39)	I313L	probably benign	Het
Or2ak4	T	A	11: 58,649,109 (GRCm39)	I206N	probably damaging	Het
Or52u1	T	A	7: 104,237,764 (GRCm39)	V251D	possibly damaging	Het
Papln	T	A	12: 83,823,295 (GRCm39)	L444Q	probably damaging	Het
Plcg1	T	C	2: 160,596,300 (GRCm39)	L632P	probably damaging	Het
Pramel21	A	T	4: 143,342,735 (GRCm39)	I281F	probably benign	Het
Prkg1	T	C	19: 31,279,701 (GRCm39)	T178A	probably damaging	Het
Ptges	T	A	2: 30,782,816 (GRCm39)	T79S	probably benign	Het
Rab26	T	C	17: 24,751,263 (GRCm39)	T81A	probably damaging	Het
Rai14	T	A	15: 10,595,089 (GRCm39)	I145L	possibly damaging	Het
Rasgrf1	A	G	9: 89,884,414 (GRCm39)	T960A	possibly damaging	Het
Rfx1	A	T	8: 84,821,455 (GRCm39)	I755F	probably damaging	Het
Rims1	T	G	1: 22,503,174 (GRCm39)	L670F	probably damaging	Het
Rtkn	G	A	6: 83,126,692 (GRCm39)	C297Y	probably damaging	Het
Sec23a	A	T	12: 59,036,229 (GRCm39)	N378K	probably benign	Het
Slc1a2	T	C	2: 102,597,340 (GRCm39)	M449T	probably damaging	Het
Slc22a3	G	A	17: 12,652,518 (GRCm39)	L369F	possibly damaging	Het
Slc34a1	A	G	13: 24,006,390 (GRCm39)	E472G	probably benign	Het
Slc49a4	G	T	16: 35,555,947 (GRCm39)	T171K	probably benign	Het
Smad6	G	T	9: 63,929,069 (GRCm39)	D82E	unknown	Het
Smgc	A	T	15: 91,736,811 (GRCm39)	I463F	possibly damaging	Het
Strada	C	A	11: 106,061,865 (GRCm39)	G166C	probably damaging	Het
Tcaf3	A	G	6: 42,570,825 (GRCm39)	V309A	probably benign	Het
Tet2	C	T	3: 133,175,352 (GRCm39)	E1332K	possibly damaging	Het
Tfcp2l1	A	G	1: 118,596,362 (GRCm39)	N366D	probably damaging	Het
Tll2	G	A	19: 41,105,723 (GRCm39)	P369L	possibly damaging	Het
Tox4	T	C	14: 52,529,554 (GRCm39)	V505A	probably benign	Het
Trbv4	A	G	6: 41,036,787 (GRCm39)	D104G	probably damaging	Het
Ugdh	T	C	5: 65,574,380 (GRCm39)	E416G	probably damaging	Het
Usp47	T	A	7: 111,686,220 (GRCm39)	C613S	probably damaging	Het
Vmn1r11	T	A	6: 57,115,147 (GRCm39)	N270K	probably benign	Het
Wsb2	T	A	5: 117,509,160 (GRCm39)	L147Q	probably damaging	Het
Xrn1	G	A	9: 95,861,198 (GRCm39)	A453T	possibly damaging	Het
Zan	A	G	5: 137,460,106 (GRCm39)	S1262P	unknown	Het
Zswim4	A	G	8: 84,946,556 (GRCm39)	L700P	probably damaging	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
R1228:Phc3	UTSW	3	30,976,404 (GRCm39)	missense	possibly damaging	0.71
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
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'- GCCTTAACTGCCAAAGGTGTG -3'
(R):5'- GCTTGCTTCAATGTACAATGTCC -3'

Sequencing Primer
(F):5'- CCTTAACTGCCAAAGGTGTGGATAG -3'
(R):5'- TCCTTTTCAGAACTGCAAGGG -3'

Posted On

2019-06-26