Mutagenetix > Incidental Mutation

Incidental Mutation 'R5907:Phrf1'

460713

Institutional Source

Beutler Lab

Gene Symbol

Phrf1

Ensembl Gene

ENSMUSG00000038611

Gene Name

PHD and ring finger domains 1

Synonyms

MMRRC Submission

044104-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5907 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

141228784-141262750 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 141260540 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Lysine at position 1216 (M1216K)

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

possibly damaging
Transcript: ENSMUST00000106027
AA Change: M1375K

PolyPhen 2 Score 0.680 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000101648
Gene: ENSMUSG00000038611
AA Change: M1375K

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

possibly damaging
Transcript: ENSMUST00000122143
AA Change: M1216K

PolyPhen 2 Score 0.786 (Sensitivity: 0.85; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000113195
Gene: ENSMUSG00000038611
AA Change: M1216K

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: M48K

SMART Domains

Protein: ENSMUSP00000123351
Gene: ENSMUSG00000038611
AA Change: M48K

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: ENSMUST00000130852
AA Change: H236Q

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000131399

Predicted Effect

probably benign
Transcript: ENSMUST00000132540

Predicted Effect

unknown
Transcript: ENSMUST00000142572
AA Change: M450K

SMART Domains

Protein: ENSMUSP00000117393
Gene: ENSMUSG00000038611
AA Change: M450K

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

noncoding transcript
Transcript: ENSMUST00000156938

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000210506

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000146373

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000155744

Predicted Effect

probably benign
Transcript: ENSMUST00000209899

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

Meta Mutation Damage Score

0.1795

Coding Region Coverage

1x: 99.9%
3x: 99.5%
10x: 97.9%
20x: 93.7%

Validation Efficiency

93% (92/99)

Allele List at MGI

Other mutations in this stock

Total: 84 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4921501E09Rik	G	T	17: 33,066,150	D559E	probably benign	Het
4931429L15Rik	A	T	9: 46,306,822	I206N	probably damaging	Het
Aadac	T	A	3: 60,039,827	D315E	probably damaging	Het
Abcc8	A	G	7: 46,123,906	F800L	probably benign	Het
Adamts16	C	A	13: 70,728,910	C1204F	probably damaging	Het
Adcy7	A	G	8: 88,312,228	T291A	possibly damaging	Het
AI182371	G	T	2: 35,086,122	Q255K	possibly damaging	Het
Aig1	A	T	10: 13,801,784		probably benign	Het
Ak5	T	C	3: 152,615,952	D266G	probably damaging	Het
Ank1	A	T	8: 23,140,204	E93D	probably damaging	Het
Bop1	T	C	15: 76,455,917	D153G	probably damaging	Het
Bub1	G	T	2: 127,819,222	N316K	probably benign	Het
Capn1	T	C	19: 5,997,797	N412S	probably benign	Het
Cdca4	A	G	12: 112,821,719	S130P	probably benign	Het
Cdh23	A	T	10: 60,428,379	D663E	probably damaging	Het
Clca3a1	T	C	3: 144,749,642		probably benign	Het
Csmd2	C	T	4: 128,197,385	P239L	probably damaging	Het
Dlg2	A	T	7: 91,997,371		probably benign	Het
Dnpep	C	T	1: 75,311,991		probably null	Het
Dopey2	A	T	16: 93,801,581	H1878L	probably damaging	Het
Dscam	C	T	16: 96,820,920	D444N	probably damaging	Het
Emc9	C	T	14: 55,582,112		probably null	Het
Ero1lb	T	A	13: 12,600,318	I346N	probably damaging	Het
Etv3	A	G	3: 87,535,543	T145A	probably benign	Het
Fam170a	T	A	18: 50,282,254		probably null	Het
Fap	A	T	2: 62,544,356	I261N	probably damaging	Het
Fbn2	T	C	18: 58,045,337	N1943S	probably damaging	Het
Glb1l3	A	T	9: 26,826,383	V466E	probably damaging	Het
Gm10521	A	T	1: 171,896,503	H127L	unknown	Het
Gm8186	G	T	17: 26,099,156	N22K	probably damaging	Het
Gpr132	A	C	12: 112,852,097	L370V	probably benign	Het
Hectd1	A	T	12: 51,798,754	H449Q	probably damaging	Het
Hook3	A	G	8: 26,044,278		probably benign	Het
Ift140	A	G	17: 25,092,371	D1180G	probably benign	Het
Isoc2b	A	T	7: 4,849,578		probably null	Het
Itga4	C	T	2: 79,322,656	H896Y	probably benign	Het
Itga7	T	C	10: 128,942,981	Y326H	probably damaging	Het
Itpr3	A	T	17: 27,117,893	E2397V	probably damaging	Het
Jtb	T	G	3: 90,235,577		probably null	Het
Klk15	A	G	7: 43,938,759	T164A	probably benign	Het
Kmt2e	C	A	5: 23,464,706	H64N	probably damaging	Het
Lamtor3	T	A	3: 137,927,293		probably benign	Het
Laptm4b	A	G	15: 34,258,684	I35V	possibly damaging	Het
Lrrc1	A	C	9: 77,434,097	L393R	probably damaging	Het
Ltn1	A	G	16: 87,381,503	S1613P	possibly damaging	Het
Mtmr4	T	A	11: 87,612,050	W920R	probably damaging	Het
Nbeal1	T	C	1: 60,228,791		probably benign	Het
Nup133	A	G	8: 123,916,299	Y761H	possibly damaging	Het
Nwd2	T	A	5: 63,805,983	V970D	probably damaging	Het
Olfr1058	A	T	2: 86,385,874	S181R	probably damaging	Het
Olfr1261	A	G	2: 89,993,957	H188R	probably benign	Het
Olfr429	T	C	1: 174,089,219	Y60H	probably benign	Het
Osbp	C	T	19: 11,973,876	L262F	probably damaging	Het
Phldb2	G	T	16: 45,825,188	D343E	probably damaging	Het
Phyh	A	T	2: 4,930,651		probably null	Het
Plekhf1	A	T	7: 38,222,170		probably null	Het
Rars	T	C	11: 35,828,648	N116D	probably damaging	Het
Rnf44	T	A	13: 54,682,808	Q181L	possibly damaging	Het
Rpe65	T	C	3: 159,615,682		probably null	Het
Scaf1	A	G	7: 45,013,592		probably benign	Het
Serpinb11	A	T	1: 107,372,189	R88S	probably benign	Het
Slc7a7	T	C	14: 54,379,103	N174S	probably damaging	Het
Slc9a5	T	C	8: 105,357,175		probably null	Het
Slfn1	C	A	11: 83,121,176	N39K	possibly damaging	Het
Snx20	G	A	8: 88,627,295	A269V	possibly damaging	Het
Snx6	A	G	12: 54,754,319	Y298H	probably damaging	Het
Stk32c	C	T	7: 139,120,674	R213Q	probably benign	Het
Tgfbr1	A	T	4: 47,396,555	I190F	probably damaging	Het
Ube2d2b	T	A	5: 107,830,632	F50I	probably damaging	Het
Ubl5	G	A	9: 20,646,534		probably benign	Het
Ubqln5	T	G	7: 104,128,574	T348P	possibly damaging	Het
Usp46	T	C	5: 74,037,085	D22G	probably benign	Het
Vars	A	G	17: 35,012,376	N655S	probably damaging	Het
Vmn2r103	A	C	17: 19,812,453	I830L	possibly damaging	Het
Vmn2r26	T	A	6: 124,039,871	N431K	probably benign	Het
Vmn2r4	G	T	3: 64,391,066	P547Q	probably damaging	Het
Yy1	T	A	12: 108,806,428		probably benign	Het
Zbtb2	A	T	10: 4,368,592	L478Q	possibly damaging	Het
Zfp12	T	C	5: 143,239,988	F17S	probably damaging	Het
Zfp219	T	A	14: 52,007,149		probably null	Het
Zfp629	G	A	7: 127,610,370	H756Y	probably damaging	Het
Zfp748	T	C	13: 67,541,173	K656R	possibly damaging	Het
Zfp958	T	A	8: 4,629,072	Y366N	probably benign	Het
Zp3	C	T	5: 135,988,523	T396I	probably benign	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
IGL01633:Phrf1	APN	7	141260500	missense	probably benign	0.43
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
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

Predicted Primers

PCR Primer
(F):5'- TCCTTCTCCTGAGAGTACAGAC -3'
(R):5'- GGGCAGGACAAACTCACTTG -3'

Sequencing Primer
(F):5'- GTACAGACTCCTCCCCTGAGAGAG -3'
(R):5'- GGACAAACTCACTTGGATCTCTG -3'

Posted On

2017-02-28