Mutagenetix > Incidental Mutation

Incidental Mutation 'R1511:Phrf1'

168318

Institutional Source

Beutler Lab

Gene Symbol

Phrf1

Ensembl Gene

ENSMUSG00000038611

Gene Name

PHD and ring finger domains 1

Synonyms

MMRRC Submission

039558-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1511 (G1)

Quality Score

218

Status

Not validated

Chromosome

Chromosomal Location

141228784-141262750 bp(+) (GRCm38)

Type of Mutation

unclassified

DNA Base Change (assembly)

T to A at 141259801 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000147529 (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

unknown
Transcript: ENSMUST00000106027
AA Change: S1129T

SMART Domains

Protein: ENSMUSP00000101648
Gene: ENSMUSG00000038611
AA Change: S1129T

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

unknown
Transcript: ENSMUST00000122143
AA Change: S970T

SMART Domains

Protein: ENSMUSP00000113195
Gene: ENSMUSG00000038611
AA Change: S970T

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: ENSMUST00000127223

Predicted Effect

probably benign
Transcript: ENSMUST00000130687

SMART Domains

Protein: ENSMUSP00000123351
Gene: ENSMUSG00000038611

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: S204T

SMART Domains

Protein: ENSMUSP00000117393
Gene: ENSMUSG00000038611
AA Change: S204T

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

probably benign
Transcript: ENSMUST00000209899

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000155744

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000156938

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000210506

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000144250

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000148414

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

1x: 99.0%
3x: 98.0%
10x: 95.4%
20x: 89.7%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 105 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aacs	C	A	5: 125,514,977	N576K	probably benign	Het
Abca5	G	T	11: 110,299,978	L769M	probably damaging	Het
Abca5	T	A	11: 110,299,986	H766L	possibly damaging	Het
Acvr1c	A	G	2: 58,287,884	I191T	probably damaging	Het
Agps	A	T	2: 75,866,779	E314D	probably damaging	Het
Agxt	G	A	1: 93,135,768	G131R	probably damaging	Het
Ak8	A	G	2: 28,742,746	T326A	probably benign	Het
Aldoart2	T	A	12: 55,566,277	I329N	probably benign	Het
Apaf1	T	C	10: 91,060,185	I342V	possibly damaging	Het
Arhgap40	T	C	2: 158,527,161	S68P	probably benign	Het
Arsi	G	A	18: 60,916,651	G202E	probably benign	Het
AU022252	C	T	4: 119,228,097	R71Q	possibly damaging	Het
Baz1b	T	C	5: 135,217,782	L695P	probably damaging	Het
Baz2b	A	T	2: 59,962,024	S587T	probably benign	Het
Cep76	T	C	18: 67,624,958	M421V	probably benign	Het
Clk2	A	G	3: 89,168,703	D60G	probably damaging	Het
Clstn3	G	T	6: 124,462,169	T6K	probably damaging	Het
Cluap1	T	A	16: 3,919,558	D180E	probably benign	Het
Col12a1	T	C	9: 79,699,552	I530V	probably benign	Het
Cpt1a	T	C	19: 3,365,788		probably benign	Het
Cr2	T	G	1: 195,155,272	K797Q	possibly damaging	Het
Crybg3	C	A	16: 59,554,112	V2260L	probably benign	Het
Csnk1a1	T	A	18: 61,585,250		probably benign	Het
Cxcr1	T	C	1: 74,192,770	D31G	probably benign	Het
Cyp2a5	G	T	7: 26,835,936	D108Y	probably damaging	Het
Dnajc1	A	G	2: 18,222,727	V376A	possibly damaging	Het
Eif4enif1	T	C	11: 3,236,278	V462A	probably benign	Het
Elmo1	A	G	13: 20,290,477	K357R	possibly damaging	Het
Eml6	T	A	11: 29,818,374	H771L	probably damaging	Het
Epb41l4a	A	G	18: 33,832,664	I370T	probably benign	Het
Esp36	A	T	17: 38,417,281	N79K	possibly damaging	Het
Fam229b	A	G	10: 39,118,919	*81Q	probably null	Het
Fat4	T	C	3: 38,983,076	Y3626H	probably damaging	Het
Fbn1	A	T	2: 125,306,285	F2681Y	probably benign	Het
Gad1-ps	A	G	10: 99,445,469		noncoding transcript	Het
Galm	C	A	17: 80,183,267	N284K	probably damaging	Het
Gtf3c2	A	T	5: 31,159,102	S735T	probably benign	Het
Hsph1	A	T	5: 149,630,383	S207T	probably benign	Het
Il33	C	T	19: 29,955,215	R159C	probably damaging	Het
Invs	A	G	4: 48,382,148	N106S	possibly damaging	Het
Kif21b	G	T	1: 136,169,324		probably null	Het
Kirrel2	A	G	7: 30,456,498	C42R	probably damaging	Het
Letm1	A	C	5: 33,752,555	C378W	probably damaging	Het
Lrrc71	T	A	3: 87,745,484	K160N	probably benign	Het
Lrrtm3	A	G	10: 64,089,025	I121T	probably damaging	Het
Lztr1	T	A	16: 17,509,670	V79E	probably damaging	Het
Mmp8	T	G	9: 7,566,278	D378E	probably damaging	Het
Mpzl3	A	G	9: 45,066,529	E145G	probably damaging	Het
Mrps2	C	T	2: 28,469,664	L178F	probably damaging	Het
Mzb1	A	G	18: 35,647,822		probably null	Het
Nckap1	T	C	2: 80,553,415	D135G	probably damaging	Het
Ndst1	A	G	18: 60,697,170	F623L	possibly damaging	Het
Nlrp5	A	T	7: 23,413,347	D143V	probably damaging	Het
Olfr1225	A	G	2: 89,170,937	S92P	probably damaging	Het
Olfr1241	T	C	2: 89,482,248	M296V	probably null	Het
Olfr1311	A	G	2: 112,021,404	V150A	probably benign	Het
Olfr146	T	C	9: 39,019,025	D172G	probably benign	Het
Olfr307	T	C	7: 86,336,345	D17G	possibly damaging	Het
Olfr32	A	G	2: 90,138,404	V245A	probably benign	Het
Olfr548-ps1	T	C	7: 102,542,125	L63P	probably damaging	Het
Olfr907	A	G	9: 38,498,818	I50V	probably benign	Het
Parp14	T	G	16: 35,857,224	E791D	probably benign	Het
Pcdh8	C	T	14: 79,769,389	R578H	possibly damaging	Het
Polr3b	C	A	10: 84,680,385	H626N	probably benign	Het
Ppp1r12a	A	G	10: 108,251,859	T58A	probably benign	Het
Ppp4r3b	T	A	11: 29,182,460	V33D	probably damaging	Het
Ppp5c	A	G	7: 17,009,982	Y176H	probably damaging	Het
R3hdm1	A	G	1: 128,197,005	Y343C	probably damaging	Het
Rabac1	C	T	7: 24,972,130	V122M	probably damaging	Het
Rasef	G	T	4: 73,735,748	Q561K	probably damaging	Het
Rbl1	A	G	2: 157,195,634	S198P	probably damaging	Het
Rbm12	A	T	2: 156,097,536	M272K	probably damaging	Het
Rexo1	T	G	10: 80,550,050	K391N	possibly damaging	Het
Rnf43	T	C	11: 87,731,347	S384P	probably benign	Het
Rpsa	A	T	9: 120,131,000	I210F	possibly damaging	Het
Rslcan18	A	G	13: 67,098,952	Y75H	possibly damaging	Het
Scn9a	T	A	2: 66,526,813	D1048V	probably benign	Het
Sec11a	T	C	7: 80,927,734		probably null	Het
Sidt2	A	G	9: 45,950,089	V19A	probably damaging	Het
Snx14	G	A	9: 88,398,364	Q522*	probably null	Het
Stx1b	A	G	7: 127,814,972	L74S	probably damaging	Het
Tm7sf3	A	T	6: 146,609,878	M371K	probably benign	Het
Tmem115	T	C	9: 107,534,975	V166A	probably benign	Het
Traf5	T	A	1: 191,999,951	T310S	probably benign	Het
Trdn	A	G	10: 33,466,452	K619E	probably benign	Het
Trmt10a	T	A	3: 138,152,184		probably null	Het
Txk	A	C	5: 72,707,671	I287R	probably damaging	Het
Txndc16	T	C	14: 45,151,887	D452G	probably damaging	Het
Ube2f	G	A	1: 91,262,301		probably null	Het
Ubtfl1	T	G	9: 18,410,193	I339R	probably benign	Het
Upf1	A	G	8: 70,338,505	I529T	probably damaging	Het
Vmn1r197	A	G	13: 22,328,653	D248G	possibly damaging	Het
Vmn1r5	A	T	6: 56,985,786	T149S	probably benign	Het
Vmn1r83	C	T	7: 12,321,270	V287I	possibly damaging	Het
Vmn2r118	G	A	17: 55,608,496	R485*	probably null	Het
Vmn2r-ps130	A	G	17: 23,063,801	T152A	probably benign	Het
Vps13b	T	C	15: 35,839,975	F2448L	probably damaging	Het
Vps13b	A	G	15: 35,841,573	N2583S	probably benign	Het
Wscd1	C	T	11: 71,788,675	P458L	probably damaging	Het
Xylt2	T	A	11: 94,670,433	D168V	probably damaging	Het
Zdhhc2	A	G	8: 40,467,972	T306A	probably benign	Het
Zfp804b	A	T	5: 6,769,771	D1097E	possibly damaging	Het
Zfp93	T	A	7: 24,275,731	C380*	probably null	Het
Zfp960	T	A	17: 17,088,256	C411S	probably damaging	Het
Zmynd15	T	A	11: 70,464,793	V430E	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
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
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

Predicted Primers

PCR Primer
(F):5'- AGGACTTCACGCTCAGTATCTCCAG -3'
(R):5'- TGGCAGGACACTTACTACCTCAGG -3'

Sequencing Primer
(F):5'- ATCTCCAGTTGCTGAGGAAC -3'
(R):5'- TTACTTCTGAAACCGGAGGC -3'

Posted On

2014-04-13