Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03077:Phrf1'

417733

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 #

IGL03077

Quality Score

Status

Chromosome

Chromosomal Location

140808697-140842663 bp(+) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

A to T at 140834881 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Stop codon at position 19 (K19*)

Ref Sequence

ENSEMBL: ENSMUSP00000147372 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000106027] [ENSMUST00000122143] [ENSMUST00000132540] [ENSMUST00000155123]

AlphaFold

A6H619

Predicted Effect

probably null
Transcript: ENSMUST00000106027
AA Change: K379*

SMART Domains

Protein: ENSMUSP00000101648
Gene: ENSMUSG00000038611
AA Change: K379*

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: K220*

SMART Domains

Protein: ENSMUSP00000113195
Gene: ENSMUSG00000038611
AA Change: K220*

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 null
Transcript: ENSMUST00000132540
AA Change: K19*

Predicted Effect

probably benign
Transcript: ENSMUST00000142572

SMART Domains

Protein: ENSMUSP00000117393
Gene: ENSMUSG00000038611

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: 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: 38 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcg8	A	G	17: 84,999,308 (GRCm39)	N135D	probably damaging	Het
Ak4	T	C	4: 101,277,148 (GRCm39)	L44P	probably damaging	Het
Angpt1	C	A	15: 42,339,818 (GRCm39)	G298*	probably null	Het
Appl2	C	T	10: 83,457,623 (GRCm39)		probably benign	Het
Arhgap19	T	A	19: 41,769,760 (GRCm39)	H341L	probably benign	Het
Chmp5	T	C	4: 40,952,438 (GRCm39)	S98P	probably benign	Het
Chp1	A	T	2: 119,415,081 (GRCm39)	Q161L	probably benign	Het
Clgn	T	C	8: 84,150,769 (GRCm39)	V478A	probably benign	Het
Cplane1	G	A	15: 8,242,279 (GRCm39)		probably benign	Het
Cyp2b19	A	T	7: 26,461,809 (GRCm39)	M210L	probably benign	Het
Eif4g3	T	A	4: 137,853,166 (GRCm39)	V244D	probably damaging	Het
Ftcd	T	C	10: 76,417,461 (GRCm39)	I300T	probably damaging	Het
Gm12886	C	T	4: 121,272,697 (GRCm39)		probably benign	Het
Klrb1f	A	T	6: 129,030,765 (GRCm39)	E92V	probably null	Het
Krt23	A	G	11: 99,374,700 (GRCm39)		probably benign	Het
Mib2	T	G	4: 155,743,900 (GRCm39)	R47S	probably benign	Het
Mindy4	A	G	6: 55,286,315 (GRCm39)	T728A	probably damaging	Het
Myh15	A	G	16: 48,916,901 (GRCm39)	N407S	probably benign	Het
Nlrp4f	A	G	13: 65,342,412 (GRCm39)	V411A	probably benign	Het
Or10ag56	T	C	2: 87,140,056 (GRCm39)	*328Q	probably null	Het
Or4c12b	A	C	2: 89,647,486 (GRCm39)	D266A	probably damaging	Het
Otud4	T	G	8: 80,400,087 (GRCm39)	S934A	probably damaging	Het
P3h1	C	T	4: 119,093,983 (GRCm39)	R213W	probably damaging	Het
Prl3b1	A	T	13: 27,429,759 (GRCm39)	M66L	probably benign	Het
Psmd7	T	C	8: 108,309,099 (GRCm39)	T149A	probably benign	Het
Samd4b	T	C	7: 28,105,868 (GRCm39)	D450G	probably damaging	Het
Scn3a	G	A	2: 65,367,016 (GRCm39)	A2V	probably damaging	Het
Snrpa	G	A	7: 26,891,186 (GRCm39)	T95I	probably benign	Het
Traip	A	G	9: 107,840,125 (GRCm39)		probably benign	Het
Trbc1	T	A	6: 41,515,383 (GRCm39)		probably benign	Het
Trim72	A	T	7: 127,607,013 (GRCm39)	M181L	probably benign	Het
Ttc41	T	C	10: 86,594,212 (GRCm39)	Y882H	probably damaging	Het
Vmn1r191	A	C	13: 22,363,316 (GRCm39)	I146S	probably benign	Het
Vmn2r9	G	T	5: 108,996,173 (GRCm39)		probably benign	Het
Vps13a	A	G	19: 16,688,246 (GRCm39)	S854P	probably benign	Het
Wdfy1	T	C	1: 79,692,622 (GRCm39)	K232E	possibly damaging	Het
Xpr1	A	T	1: 155,156,774 (GRCm39)	D625E	possibly damaging	Het
Zbbx	T	A	3: 74,989,153 (GRCm39)	T317S	possibly damaging	Het

Other mutations in Phrf1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00551:Phrf1	APN	7	140,838,790 (GRCm39)	unclassified	probably benign
IGL01391:Phrf1	APN	7	140,842,394 (GRCm39)	missense	probably damaging	1.00
IGL01472:Phrf1	APN	7	140,836,403 (GRCm39)	splice site	probably benign
IGL01633:Phrf1	APN	7	140,840,413 (GRCm39)	missense	probably benign	0.43
IGL01808:Phrf1	APN	7	140,840,879 (GRCm39)	missense	probably damaging	1.00
IGL02004:Phrf1	APN	7	140,840,246 (GRCm39)	missense	probably benign	0.39
IGL02138:Phrf1	APN	7	140,839,196 (GRCm39)	unclassified	probably benign
IGL02678:Phrf1	APN	7	140,840,195 (GRCm39)	missense	probably damaging	1.00
PIT4466001:Phrf1	UTSW	7	140,838,725 (GRCm39)	missense	unknown
R0036:Phrf1	UTSW	7	140,841,693 (GRCm39)	missense	probably damaging	1.00
R0036:Phrf1	UTSW	7	140,841,693 (GRCm39)	missense	probably damaging	1.00
R0040:Phrf1	UTSW	7	140,823,770 (GRCm39)	missense	probably damaging	1.00
R0358:Phrf1	UTSW	7	140,838,217 (GRCm39)	unclassified	probably benign
R0445:Phrf1	UTSW	7	140,827,244 (GRCm39)	utr 3 prime	probably benign
R0535:Phrf1	UTSW	7	140,839,978 (GRCm39)	missense	probably benign	0.07
R0561:Phrf1	UTSW	7	140,834,876 (GRCm39)	missense	probably benign	0.00
R0940:Phrf1	UTSW	7	140,834,768 (GRCm39)	splice site	probably benign
R1499:Phrf1	UTSW	7	140,836,564 (GRCm39)	missense	probably damaging	1.00
R1511:Phrf1	UTSW	7	140,839,714 (GRCm39)	unclassified	probably benign
R1651:Phrf1	UTSW	7	140,817,434 (GRCm39)	missense	probably benign
R1691:Phrf1	UTSW	7	140,841,787 (GRCm39)	nonsense	probably null
R1778:Phrf1	UTSW	7	140,812,369 (GRCm39)	missense	probably benign	0.01
R1851:Phrf1	UTSW	7	140,820,831 (GRCm39)	missense	probably damaging	1.00
R2239:Phrf1	UTSW	7	140,817,605 (GRCm39)	missense	probably damaging	1.00
R2857:Phrf1	UTSW	7	140,839,593 (GRCm39)	unclassified	probably benign
R3796:Phrf1	UTSW	7	140,839,831 (GRCm39)	nonsense	probably null
R3797:Phrf1	UTSW	7	140,839,831 (GRCm39)	nonsense	probably null
R3798:Phrf1	UTSW	7	140,839,831 (GRCm39)	nonsense	probably null
R3799:Phrf1	UTSW	7	140,839,831 (GRCm39)	nonsense	probably null
R4080:Phrf1	UTSW	7	140,839,633 (GRCm39)	unclassified	probably benign
R4081:Phrf1	UTSW	7	140,838,970 (GRCm39)	unclassified	probably benign
R4557:Phrf1	UTSW	7	140,838,842 (GRCm39)	unclassified	probably benign
R5217:Phrf1	UTSW	7	140,840,616 (GRCm39)	missense	probably damaging	1.00
R5218:Phrf1	UTSW	7	140,841,214 (GRCm39)	missense	possibly damaging	0.94
R5276:Phrf1	UTSW	7	140,839,196 (GRCm39)	unclassified	probably benign
R5442:Phrf1	UTSW	7	140,820,850 (GRCm39)	missense	probably damaging	1.00
R5501:Phrf1	UTSW	7	140,839,834 (GRCm39)	missense	possibly damaging	0.91
R5695:Phrf1	UTSW	7	140,838,378 (GRCm39)	unclassified	probably benign
R5837:Phrf1	UTSW	7	140,839,974 (GRCm39)	missense	probably benign	0.34
R5907:Phrf1	UTSW	7	140,840,453 (GRCm39)	missense	possibly damaging	0.79
R5996:Phrf1	UTSW	7	140,839,015 (GRCm39)	unclassified	probably benign
R6024:Phrf1	UTSW	7	140,838,898 (GRCm39)	unclassified	probably benign
R6244:Phrf1	UTSW	7	140,817,586 (GRCm39)	missense	probably damaging	1.00
R6512:Phrf1	UTSW	7	140,840,309 (GRCm39)	missense	possibly damaging	0.88
R7016:Phrf1	UTSW	7	140,817,476 (GRCm39)	missense	probably damaging	0.98
R7311:Phrf1	UTSW	7	140,820,846 (GRCm39)	missense	unknown
R7409:Phrf1	UTSW	7	140,839,205 (GRCm39)	missense	unknown
R7517:Phrf1	UTSW	7	140,836,523 (GRCm39)	missense	unknown
R7560:Phrf1	UTSW	7	140,811,138 (GRCm39)	critical splice acceptor site	probably null
R7699:Phrf1	UTSW	7	140,834,842 (GRCm39)	missense	unknown
R7700:Phrf1	UTSW	7	140,834,842 (GRCm39)	missense	unknown
R7867:Phrf1	UTSW	7	140,836,524 (GRCm39)	missense	unknown
R7895:Phrf1	UTSW	7	140,839,288 (GRCm39)	missense	unknown
R8179:Phrf1	UTSW	7	140,836,493 (GRCm39)	missense	unknown
R8705:Phrf1	UTSW	7	140,838,651 (GRCm39)	missense	unknown
R8708:Phrf1	UTSW	7	140,812,446 (GRCm39)	missense	unknown
R8748:Phrf1	UTSW	7	140,838,148 (GRCm39)	missense	unknown
R8768:Phrf1	UTSW	7	140,838,651 (GRCm39)	missense	unknown
R8789:Phrf1	UTSW	7	140,836,581 (GRCm39)	missense	unknown
R8859:Phrf1	UTSW	7	140,836,516 (GRCm39)	missense	unknown
R8991:Phrf1	UTSW	7	140,823,671 (GRCm39)	missense	unknown
R9086:Phrf1	UTSW	7	140,839,412 (GRCm39)	missense	unknown
R9158:Phrf1	UTSW	7	140,836,466 (GRCm39)	missense	unknown
R9287:Phrf1	UTSW	7	140,840,055 (GRCm39)	missense	probably benign	0.35
R9561:Phrf1	UTSW	7	140,834,815 (GRCm39)	missense	unknown
X0027:Phrf1	UTSW	7	140,836,481 (GRCm39)	missense	probably benign
Z1176:Phrf1	UTSW	7	140,838,731 (GRCm39)	missense	unknown
Z1176:Phrf1	UTSW	7	140,823,796 (GRCm39)	missense	unknown

Posted On

2016-08-02