Mutagenetix > Incidental Mutation

Incidental Mutation 'R0036:Phrf1'

15600

Institutional Source

Beutler Lab

Gene Symbol

Phrf1

Ensembl Gene

ENSMUSG00000038611

Gene Name

PHD and ring finger domains 1

Synonyms

MMRRC Submission

038330-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0036 (G1)

Quality Score

Status

Validated

Chromosome

Chromosomal Location

141228784-141262750 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 141261780 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Threonine at position 1435 (M1435T)

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 damaging
Transcript: ENSMUST00000106027
AA Change: M1594T

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000101648
Gene: ENSMUSG00000038611
AA Change: M1594T

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 damaging
Transcript: ENSMUST00000122143
AA Change: M1435T

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000113195
Gene: ENSMUSG00000038611
AA Change: M1435T

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: M242T

SMART Domains

Protein: ENSMUSP00000123351
Gene: ENSMUSG00000038611
AA Change: M242T

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: M684T

SMART Domains

Protein: ENSMUSP00000117393
Gene: ENSMUSG00000038611
AA Change: M684T

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: ENSMUST00000156938

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000148414

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000146373

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000155744

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000210506

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

0.1000

Coding Region Coverage

1x: 79.1%
3x: 69.3%
10x: 43.3%
20x: 23.5%

Validation Efficiency

91% (49/54)

Allele List at MGI

Other mutations in this stock

Total: 17 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700028P14Rik	A	T	19: 23,616,568		probably benign	Het
Cfap44	A	G	16: 44,439,069	E1098G	possibly damaging	Het
Ctsq	C	T	13: 61,037,671		probably null	Het
Dock9	C	T	14: 121,622,853	V886M	probably damaging	Het
Eaf2	T	C	16: 36,800,658	Y224C	probably benign	Het
Eif5b	T	A	1: 38,019,111	S165T	probably benign	Het
Eln	A	G	5: 134,711,060		probably null	Het
Jakmip1	A	G	5: 37,134,304	K514R	probably null	Het
Myo1e	T	A	9: 70,341,308	W435R	probably damaging	Het
Nadsyn1	T	C	7: 143,811,291	I226V	probably benign	Het
Nedd4l	T	C	18: 65,051,123		probably benign	Het
Ppic	A	T	18: 53,409,192	I148N	probably damaging	Het
Sdr16c6	C	A	4: 4,063,335		probably benign	Het
Sgo2a	T	C	1: 58,015,628	S324P	probably benign	Het
Slf1	G	T	13: 77,100,951	Q373K	probably benign	Het
Tfg	G	T	16: 56,690,995	Q324K	probably benign	Het
Wdr64	G	T	1: 175,728,930	G248*	probably null	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
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

2012-12-21