Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01633:Phrf1'

93630

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Phrf1

Ensembl Gene

ENSMUSG00000038611

Gene Name

PHD and ring finger domains 1

Synonyms

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL01633

Quality Score

Status

Chromosome

Chromosomal Location

141228784-141262750 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 141260500 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 1203 (I1203V)

Ref Sequence

ENSEMBL: ENSMUSP00000113195 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000026571] [ENSMUST00000097952] [ENSMUST00000106023] [ENSMUST00000106027] [ENSMUST00000122143] [ENSMUST00000132540] [ENSMUST00000209899] [ENSMUST00000155123]

AlphaFold

A6H619

Predicted Effect

probably benign
Transcript: ENSMUST00000026571

SMART Domains

Protein: ENSMUSP00000026571
Gene: ENSMUSG00000025498

Domain	Start	End	E-Value	Type
IRF	5	127	1.13e-54	SMART
IRF-3	240	420	1.38e-63	SMART
low complexity region	425	442	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000097952

SMART Domains

Protein: ENSMUSP00000095565
Gene: ENSMUSG00000025498

Domain	Start	End	E-Value	Type
IRF	5	127	1.13e-54	SMART
IRF-3	209	389	1.38e-63	SMART
low complexity region	394	411	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000106023

SMART Domains

Protein: ENSMUSP00000101644
Gene: ENSMUSG00000025498

Domain	Start	End	E-Value	Type
IRF	5	127	1.13e-54	SMART
IRF-3	208	388	1.38e-63	SMART
low complexity region	393	410	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000106027
AA Change: I1362V

PolyPhen 2 Score 0.301 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000101648
Gene: ENSMUSG00000038611
AA Change: I1362V

Domain	Start	End	E-Value	Type
low complexity region	24	35	N/A	INTRINSIC
low complexity region	39	70	N/A	INTRINSIC
RING	109	149	3.78e-5	SMART
C1	173	229	7.05e-2	SMART
PHD	187	233	1.77e-14	SMART
RING	188	232	3.17e0	SMART
low complexity region	332	369	N/A	INTRINSIC
low complexity region	491	505	N/A	INTRINSIC
low complexity region	507	522	N/A	INTRINSIC
low complexity region	717	728	N/A	INTRINSIC
low complexity region	831	857	N/A	INTRINSIC
low complexity region	891	902	N/A	INTRINSIC
low complexity region	944	955	N/A	INTRINSIC
low complexity region	965	976	N/A	INTRINSIC
low complexity region	999	1020	N/A	INTRINSIC
low complexity region	1027	1043	N/A	INTRINSIC
low complexity region	1051	1090	N/A	INTRINSIC
low complexity region	1094	1151	N/A	INTRINSIC
low complexity region	1160	1173	N/A	INTRINSIC
low complexity region	1217	1241	N/A	INTRINSIC
low complexity region	1245	1261	N/A	INTRINSIC
low complexity region	1288	1306	N/A	INTRINSIC
low complexity region	1308	1319	N/A	INTRINSIC
low complexity region	1359	1376	N/A	INTRINSIC
low complexity region	1426	1441	N/A	INTRINSIC
low complexity region	1575	1592	N/A	INTRINSIC
Blast:IG_like	1593	1636	4e-14	BLAST

Predicted Effect

probably benign
Transcript: ENSMUST00000122143
AA Change: I1203V

PolyPhen 2 Score 0.426 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000113195
Gene: ENSMUSG00000038611
AA Change: I1203V

Domain	Start	End	E-Value	Type
C1	14	70	7.05e-2	SMART
PHD	28	74	1.77e-14	SMART
low complexity region	173	210	N/A	INTRINSIC
low complexity region	332	346	N/A	INTRINSIC
low complexity region	348	363	N/A	INTRINSIC
low complexity region	558	569	N/A	INTRINSIC
low complexity region	672	698	N/A	INTRINSIC
low complexity region	732	743	N/A	INTRINSIC
low complexity region	785	796	N/A	INTRINSIC
low complexity region	806	817	N/A	INTRINSIC
low complexity region	840	861	N/A	INTRINSIC
low complexity region	868	884	N/A	INTRINSIC
low complexity region	892	931	N/A	INTRINSIC
low complexity region	935	992	N/A	INTRINSIC
low complexity region	1001	1014	N/A	INTRINSIC
low complexity region	1058	1082	N/A	INTRINSIC
low complexity region	1086	1102	N/A	INTRINSIC
low complexity region	1129	1147	N/A	INTRINSIC
low complexity region	1149	1160	N/A	INTRINSIC
low complexity region	1200	1217	N/A	INTRINSIC
low complexity region	1267	1282	N/A	INTRINSIC
low complexity region	1416	1433	N/A	INTRINSIC
Blast:IG_like	1434	1477	4e-14	BLAST

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000122868

Predicted Effect

probably benign
Transcript: ENSMUST00000123525

SMART Domains

Protein: ENSMUSP00000121026
Gene: ENSMUSG00000025498

Domain	Start	End	E-Value	Type
IRF	1	69	6.35e-3	SMART
IRF-3	77	251	2.62e-55	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000127161

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000127223

Predicted Effect

unknown
Transcript: ENSMUST00000130687
AA Change: I35V

SMART Domains

Protein: ENSMUSP00000123351
Gene: ENSMUSG00000038611
AA Change: I35V

Domain	Start	End	E-Value	Type
low complexity region	33	50	N/A	INTRINSIC
low complexity region	100	115	N/A	INTRINSIC
low complexity region	224	241	N/A	INTRINSIC
Blast:IG_like	242	285	5e-15	BLAST

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000131399

Predicted Effect

probably benign
Transcript: ENSMUST00000132540

Predicted Effect

unknown
Transcript: ENSMUST00000142572
AA Change: I437V

SMART Domains

Protein: ENSMUSP00000117393
Gene: ENSMUSG00000038611
AA Change: I437V

Domain	Start	End	E-Value	Type
low complexity region	20	31	N/A	INTRINSIC
low complexity region	41	52	N/A	INTRINSIC
low complexity region	75	96	N/A	INTRINSIC
low complexity region	103	119	N/A	INTRINSIC
low complexity region	127	166	N/A	INTRINSIC
low complexity region	170	227	N/A	INTRINSIC
low complexity region	236	249	N/A	INTRINSIC
low complexity region	293	317	N/A	INTRINSIC
low complexity region	321	337	N/A	INTRINSIC
low complexity region	364	382	N/A	INTRINSIC
low complexity region	384	395	N/A	INTRINSIC
low complexity region	435	452	N/A	INTRINSIC
low complexity region	666	683	N/A	INTRINSIC
Blast:IG_like	684	727	3e-14	BLAST

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000144250

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000148414

Predicted Effect

probably benign
Transcript: ENSMUST00000209899

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000210506

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000155744

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000156938

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000146373

Predicted Effect

probably benign
Transcript: ENSMUST00000155123

SMART Domains

Protein: ENSMUSP00000120759
Gene: ENSMUSG00000038611

Domain	Start	End	E-Value	Type
low complexity region	24	35	N/A	INTRINSIC
low complexity region	39	70	N/A	INTRINSIC
RING	109	149	3.78e-5	SMART
Blast:C1	165	209	2e-17	BLAST

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca2	T	A	2: 25,444,394	S1868T	possibly damaging	Het
Abca3	G	A	17: 24,397,353	W923*	probably null	Het
Abca8b	A	G	11: 109,936,754	M1476T	probably damaging	Het
Abi3bp	T	C	16: 56,677,800	F729S	probably damaging	Het
Acacb	T	C	5: 114,218,858		probably benign	Het
Aldh3a2	A	G	11: 61,248,905	L467P	probably benign	Het
Appl1	T	C	14: 26,962,838	T85A	probably damaging	Het
Aspm	T	A	1: 139,480,836	I2487N	possibly damaging	Het
Bcl2a1c	G	A	9: 114,330,222	V23I	probably benign	Het
C2cd2	T	A	16: 97,875,123		probably benign	Het
Carmil3	A	T	14: 55,494,227	H170L	possibly damaging	Het
Ccdc141	C	T	2: 77,089,249	V305I	probably benign	Het
Ccdc174	G	A	6: 91,880,362		probably null	Het
Cep126	T	G	9: 8,103,319	Q230P	possibly damaging	Het
Chrm1	T	C	19: 8,678,495	I188T	probably benign	Het
Depdc5	T	C	5: 32,924,200	S569P	probably damaging	Het
Drc1	G	A	5: 30,345,663	E177K	probably damaging	Het
Duox1	A	G	2: 122,333,798	E913G	probably benign	Het
Fam35a	G	T	14: 34,249,179	T31K	probably damaging	Het
Fbxw9	T	C	8: 85,064,426	S241P	probably damaging	Het
Fez2	C	A	17: 78,404,718		probably benign	Het
Fga	G	T	3: 83,030,299	R161L	possibly damaging	Het
Fn3krp	G	T	11: 121,429,707	G293*	probably null	Het
Gfra1	C	T	19: 58,267,047	E318K	probably benign	Het
Gli3	C	T	13: 15,648,634	P314S	probably damaging	Het
Gm5114	A	T	7: 39,408,066	S710T	probably benign	Het
Gpr141	T	C	13: 19,752,599	D2G	probably benign	Het
Inppl1	G	A	7: 101,833,834	Q63*	probably null	Het
Lrrc73	T	A	17: 46,255,731	V169E	possibly damaging	Het
Lsm11	C	T	11: 45,933,788	R304Q	probably benign	Het
Macf1	T	C	4: 123,502,171	D788G	probably damaging	Het
Nbas	T	A	12: 13,483,897	D1844E	probably damaging	Het
Nt5c	A	G	11: 115,491,335	F73L	probably damaging	Het
Osmr	A	T	15: 6,824,604	I541N	probably damaging	Het
Pram1	C	A	17: 33,642,135	P510Q	possibly damaging	Het
Prepl	A	G	17: 85,072,016	Y415H	probably benign	Het
Prss27	A	T	17: 24,045,676	H271L	probably damaging	Het
Ptpn18	A	G	1: 34,471,908	S287G	probably benign	Het
Ptprq	T	C	10: 107,699,723		probably benign	Het
Sars2	A	G	7: 28,747,549	K218E	probably benign	Het
Senp6	G	T	9: 80,092,394	S31I	probably damaging	Het
Skint6	C	A	4: 113,238,049	V138F	probably damaging	Het
Slc4a8	C	A	15: 100,787,247	H168N	probably damaging	Het
Tbx15	T	G	3: 99,313,042	I150S	probably damaging	Het
Tbxas1	A	G	6: 38,982,191	N103D	probably benign	Het
Tmc5	A	G	7: 118,623,586	N170D	probably damaging	Het
Tmem108	A	T	9: 103,484,751	N545K	probably benign	Het
Trub1	A	G	19: 57,453,184	K80E	possibly damaging	Het
Tulp3	A	T	6: 128,325,960	Y299N	probably damaging	Het

Other mutations in Phrf1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00551:Phrf1	APN	7	141258877	unclassified	probably benign
IGL01391:Phrf1	APN	7	141262481	missense	probably damaging	1.00
IGL01472:Phrf1	APN	7	141256490	splice site	probably benign
IGL01808:Phrf1	APN	7	141260966	missense	probably damaging	1.00
IGL02004:Phrf1	APN	7	141260333	missense	probably benign	0.39
IGL02138:Phrf1	APN	7	141259283	unclassified	probably benign
IGL02678:Phrf1	APN	7	141260282	missense	probably damaging	1.00
IGL03077:Phrf1	APN	7	141254968	nonsense	probably null
PIT4466001:Phrf1	UTSW	7	141258812	missense	unknown
R0036:Phrf1	UTSW	7	141261780	missense	probably damaging	1.00
R0036:Phrf1	UTSW	7	141261780	missense	probably damaging	1.00
R0040:Phrf1	UTSW	7	141243857	missense	probably damaging	1.00
R0358:Phrf1	UTSW	7	141258304	unclassified	probably benign
R0445:Phrf1	UTSW	7	141247331	utr 3 prime	probably benign
R0535:Phrf1	UTSW	7	141260065	missense	probably benign	0.07
R0561:Phrf1	UTSW	7	141254963	missense	probably benign	0.00
R0940:Phrf1	UTSW	7	141254855	splice site	probably benign
R1499:Phrf1	UTSW	7	141256651	missense	probably damaging	1.00
R1511:Phrf1	UTSW	7	141259801	unclassified	probably benign
R1651:Phrf1	UTSW	7	141237521	missense	probably benign
R1691:Phrf1	UTSW	7	141261874	nonsense	probably null
R1778:Phrf1	UTSW	7	141232456	missense	probably benign	0.01
R1851:Phrf1	UTSW	7	141240918	missense	probably damaging	1.00
R2239:Phrf1	UTSW	7	141237692	missense	probably damaging	1.00
R2857:Phrf1	UTSW	7	141259680	unclassified	probably benign
R3796:Phrf1	UTSW	7	141259918	nonsense	probably null
R3797:Phrf1	UTSW	7	141259918	nonsense	probably null
R3798:Phrf1	UTSW	7	141259918	nonsense	probably null
R3799:Phrf1	UTSW	7	141259918	nonsense	probably null
R4080:Phrf1	UTSW	7	141259720	unclassified	probably benign
R4081:Phrf1	UTSW	7	141259057	unclassified	probably benign
R4557:Phrf1	UTSW	7	141258929	unclassified	probably benign
R5217:Phrf1	UTSW	7	141260703	missense	probably damaging	1.00
R5218:Phrf1	UTSW	7	141261301	missense	possibly damaging	0.94
R5276:Phrf1	UTSW	7	141259283	unclassified	probably benign
R5442:Phrf1	UTSW	7	141240937	missense	probably damaging	1.00
R5501:Phrf1	UTSW	7	141259921	missense	possibly damaging	0.91
R5695:Phrf1	UTSW	7	141258465	unclassified	probably benign
R5837:Phrf1	UTSW	7	141260061	missense	probably benign	0.34
R5907:Phrf1	UTSW	7	141260540	missense	possibly damaging	0.79
R5996:Phrf1	UTSW	7	141259102	unclassified	probably benign
R6024:Phrf1	UTSW	7	141258985	unclassified	probably benign
R6244:Phrf1	UTSW	7	141237673	missense	probably damaging	1.00
R6512:Phrf1	UTSW	7	141260396	missense	possibly damaging	0.88
R7016:Phrf1	UTSW	7	141237563	missense	probably damaging	0.98
R7311:Phrf1	UTSW	7	141240933	missense	unknown
R7409:Phrf1	UTSW	7	141259292	missense	unknown
R7517:Phrf1	UTSW	7	141256610	missense	unknown
R7560:Phrf1	UTSW	7	141231225	critical splice acceptor site	probably null
R7699:Phrf1	UTSW	7	141254929	missense	unknown
R7700:Phrf1	UTSW	7	141254929	missense	unknown
R7867:Phrf1	UTSW	7	141256611	missense	unknown
R7895:Phrf1	UTSW	7	141259375	missense	unknown
R8179:Phrf1	UTSW	7	141256580	missense	unknown
R8705:Phrf1	UTSW	7	141258738	missense	unknown
R8708:Phrf1	UTSW	7	141232533	missense	unknown
R8748:Phrf1	UTSW	7	141258235	missense	unknown
R8768:Phrf1	UTSW	7	141258738	missense	unknown
R8789:Phrf1	UTSW	7	141256668	missense	unknown
R8859:Phrf1	UTSW	7	141256603	missense	unknown
R8991:Phrf1	UTSW	7	141243758	missense	unknown
R9086:Phrf1	UTSW	7	141259499	missense	unknown
R9158:Phrf1	UTSW	7	141256553	missense	unknown
R9287:Phrf1	UTSW	7	141260142	missense	probably benign	0.35
R9561:Phrf1	UTSW	7	141254902	missense	unknown
X0027:Phrf1	UTSW	7	141256568	missense	probably benign
Z1176:Phrf1	UTSW	7	141243883	missense	unknown
Z1176:Phrf1	UTSW	7	141258818	missense	unknown

Posted On

2013-12-09