Mutagenetix > Incidental Mutation

Incidental Mutation 'R3796:Phrf1'

272764

Institutional Source

Beutler Lab

Gene Symbol

Phrf1

Ensembl Gene

ENSMUSG00000038611

Gene Name

PHD and ring finger domains 1

Synonyms

MMRRC Submission

040757-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R3796 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

141228784-141262750 bp(+) (GRCm38)

Type of Mutation

nonsense

DNA Base Change (assembly)

C to T at 141259918 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Stop codon at position 243 (R243*)

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 null
Transcript: ENSMUST00000106027
AA Change: R1168*

SMART Domains

Protein: ENSMUSP00000101648
Gene: ENSMUSG00000038611
AA Change: R1168*

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 null
Transcript: ENSMUST00000122143
AA Change: R1009*

SMART Domains

Protein: ENSMUSP00000113195
Gene: ENSMUSG00000038611
AA Change: R1009*

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: ENSMUST00000130852
AA Change: A29V

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000131399

Predicted Effect

probably benign
Transcript: ENSMUST00000132540

Predicted Effect

probably null
Transcript: ENSMUST00000142572
AA Change: R243*

SMART Domains

Protein: ENSMUSP00000117393
Gene: ENSMUSG00000038611
AA Change: R243*

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: ENSMUST00000156938

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000148414

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000144250

Predicted Effect

probably benign
Transcript: ENSMUST00000209899

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000155744

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000210506

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

0.9755

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.2%
20x: 94.9%

Validation Efficiency

100% (40/40)

Allele List at MGI

Other mutations in this stock

Total: 35 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9130011E15Rik	A	G	19: 45,921,610		probably benign	Het
Adamts17	A	G	7: 66,839,914		probably null	Het
Alpk3	C	A	7: 81,092,753	P773T	probably benign	Het
Alppl2	A	G	1: 87,088,354		probably null	Het
Basp1	C	A	15: 25,364,312		probably benign	Het
Clec14a	G	A	12: 58,267,909	A309V	probably benign	Het
Clk2	A	G	3: 89,175,689	N424S	probably benign	Het
Cops7a	C	T	6: 124,959,832	R252H	probably damaging	Het
Csmd2	C	T	4: 128,517,595	P2469S	probably benign	Het
Cwf19l1	A	G	19: 44,114,567	V403A	probably damaging	Het
Dnajc16	G	T	4: 141,767,737	D521E	probably benign	Het
Dnm2	T	C	9: 21,505,487	V772A	probably benign	Het
Dst	G	T	1: 34,181,915	V2267F	probably benign	Het
Eif3d	A	G	15: 77,968,569	F4S	probably damaging	Het
Fgfr1	G	A	8: 25,572,437	D663N	probably damaging	Het
Hmcn1	A	G	1: 150,586,418	Y5170H	probably damaging	Het
Kcna2	T	A	3: 107,105,590	L496I	probably benign	Het
Krt8	T	C	15: 101,999,442	I233V	probably benign	Het
Mfap1b	A	G	2: 121,473,905	V3A	probably benign	Het
Plbd2	A	T	5: 120,492,868	I224N	probably damaging	Het
Rab19	T	C	6: 39,384,041	V41A	probably benign	Het
Rrm1	T	A	7: 102,465,703		probably null	Het
Sacs	T	C	14: 61,206,121	V1872A	possibly damaging	Het
Setd2	T	C	9: 110,549,571	V818A	probably benign	Het
Shprh	C	T	10: 11,178,757	L1037F	possibly damaging	Het
Slc24a3	A	G	2: 145,616,681	D527G	probably damaging	Het
Slc27a6	T	C	18: 58,598,751		probably benign	Het
Slc35g3	A	G	11: 69,760,917	F103L	probably benign	Het
Slc5a1	A	G	5: 33,152,652	D408G	probably damaging	Het
Spag6l	A	T	16: 16,763,052	I477N	probably damaging	Het
Srgap1	A	G	10: 122,047,132	V21A	probably benign	Het
Trim7	A	G	11: 48,845,670		probably null	Het
Trpa1	T	C	1: 14,893,264	N578S	possibly damaging	Het
Xdh	T	C	17: 73,907,658	E764G	probably damaging	Het
Zfp518a	G	T	19: 40,915,310	V1228F	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
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
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'- TTCTTCCTGTGAGCGCCATG -3'
(R):5'- ACTTCTGGAGGGTTCAGGTC -3'

Sequencing Primer
(F):5'- CTGTGAGCGCCATGAGAGTAAG -3'
(R):5'- TCAGGCAAGACACTTACTTCTG -3'

Posted On

2015-03-25