Mutagenetix > Incidental Mutation

Incidental Mutation 'R8859:Phrf1'

675534

Institutional Source

Beutler Lab

Gene Symbol

Phrf1

Ensembl Gene

ENSMUSG00000038611

Gene Name

PHD and ring finger domains 1

Synonyms

MMRRC Submission

068739-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8859 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

140808697-140842663 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 140836516 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glycine to Tryptophan at position 263 (G263W)

Ref Sequence

ENSEMBL: ENSMUSP00000113195 (fasta)

Gene Model

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

AlphaFold

A6H619

Predicted Effect

unknown
Transcript: ENSMUST00000106027
AA Change: G422W

SMART Domains

Protein: ENSMUSP00000101648
Gene: ENSMUSG00000038611
AA Change: G422W

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: G263W

SMART Domains

Protein: ENSMUSP00000113195
Gene: ENSMUSG00000038611
AA Change: G263W

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

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

unknown
Transcript: ENSMUST00000132540
AA Change: G62W

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

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.4%

Validation Efficiency

99% (95/96)

Allele List at MGI

Other mutations in this stock

Total: 100 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca13	A	T	11: 9,328,397 (GRCm39)	Y3490F		Het
Abcc1	T	C	16: 14,214,225 (GRCm39)	V167A	probably benign	Het
Abcd2	G	A	15: 91,073,149 (GRCm39)	R337C	probably damaging	Het
Adcy1	A	G	11: 7,111,877 (GRCm39)	D914G	probably benign	Het
Ahnak	G	T	19: 8,984,567 (GRCm39)	L1950F	probably damaging	Het
Alox5ap	T	C	5: 149,201,994 (GRCm39)		probably null	Het
Ank	C	T	15: 27,562,834 (GRCm39)	H181Y	possibly damaging	Het
Ankrd44	T	A	1: 54,706,680 (GRCm39)	D592V	possibly damaging	Het
Ap4m1	T	A	5: 138,174,185 (GRCm39)	N185K	possibly damaging	Het
Arhgef28	T	A	13: 98,082,210 (GRCm39)	D1199V	probably damaging	Het
Arnt	T	C	3: 95,397,691 (GRCm39)		probably null	Het
Atcay	C	T	10: 81,060,298 (GRCm39)	V13M	probably benign	Het
B4galt3	T	C	1: 171,099,241 (GRCm39)	S2P	unknown	Het
Bicra	A	T	7: 15,721,737 (GRCm39)	S593R	possibly damaging	Het
Brsk2	A	C	7: 141,552,415 (GRCm39)	Q633P	probably damaging	Het
Cacna1c	T	A	6: 118,653,280 (GRCm39)	S909C		Het
Ccdc7a	G	A	8: 129,788,113 (GRCm39)	T72M	probably benign	Het
Ccn1	T	C	3: 145,354,380 (GRCm39)	D177G	probably benign	Het
Cct2	A	T	10: 116,896,739 (GRCm39)	F155I	possibly damaging	Het
Cdv3	G	T	9: 103,233,594 (GRCm39)	P194T	probably damaging	Het
Cenpc1	A	T	5: 86,160,153 (GRCm39)	V895E	probably benign	Het
Cep170b	T	C	12: 112,702,881 (GRCm39)	V448A	probably benign	Het
Chil3	G	A	3: 106,071,440 (GRCm39)	R75C	possibly damaging	Het
Cnfn	A	T	7: 25,067,869 (GRCm39)	C24S	probably benign	Het
Cnga3	A	G	1: 37,299,852 (GRCm39)	K191E	possibly damaging	Het
Col12a1	A	T	9: 79,587,681 (GRCm39)	Y1153*	probably null	Het
Coq4	C	A	2: 29,685,491 (GRCm39)	H168Q	probably damaging	Het
Dennd2b	T	A	7: 109,123,863 (GRCm39)	K1132M	probably damaging	Het
Dnajc14	G	A	10: 128,642,488 (GRCm39)	V137I	probably benign	Het
Efr3a	T	C	15: 65,726,614 (GRCm39)	L569P	probably damaging	Het
Epb41l3	A	T	17: 69,591,575 (GRCm39)	E677D	probably benign	Het
Esp8	G	A	17: 40,841,013 (GRCm39)	M91I	unknown	Het
Fubp1	A	T	3: 151,937,669 (GRCm39)		probably benign	Het
Gldc	G	T	19: 30,116,779 (GRCm39)	A391D	probably damaging	Het
Gm17728	A	G	17: 9,641,027 (GRCm39)	T46A	probably benign	Het
Gm5798	A	G	14: 41,072,603 (GRCm39)	K112E	probably damaging	Het
Gpnmb	A	G	6: 49,028,964 (GRCm39)		probably benign	Het
Grwd1	T	C	7: 45,475,298 (GRCm39)	T415A	probably benign	Het
Gsdma3	C	G	11: 98,522,086 (GRCm39)	A172G	possibly damaging	Het
Hltf	C	T	3: 20,119,566 (GRCm39)	Q204*	probably null	Het
Igf1r	T	G	7: 67,833,211 (GRCm39)	V457G	possibly damaging	Het
Inhbc	A	T	10: 127,192,984 (GRCm39)	M344K	probably damaging	Het
Jak3	C	T	8: 72,131,160 (GRCm39)	A60V	probably benign	Het
Kif13b	A	G	14: 64,979,882 (GRCm39)	T511A	probably benign	Het
Lama2	T	A	10: 27,335,384 (GRCm39)	N97I	possibly damaging	Het
Limd2	T	A	11: 106,049,576 (GRCm39)	D104V	probably damaging	Het
Loxl3	T	A	6: 83,014,526 (GRCm39)	C145S	probably damaging	Het
Lrrc37	A	C	11: 103,506,370 (GRCm39)	I1866S	unknown	Het
Lrrc73	A	G	17: 46,565,455 (GRCm39)	N62S	probably benign	Het
Lrrtm4	A	G	6: 79,998,870 (GRCm39)	D94G	probably damaging	Het
Lsm3	C	A	6: 91,499,252 (GRCm39)	F86L	probably damaging	Het
Map10	T	C	8: 126,397,291 (GRCm39)	V228A	probably benign	Het
Mcidas	A	C	13: 113,130,664 (GRCm39)	S54R	possibly damaging	Het
Me3	T	C	7: 89,455,876 (GRCm39)	Y243H	probably damaging	Het
Mgat4b	A	G	11: 50,121,674 (GRCm39)	T89A	possibly damaging	Het
Mmp16	T	A	4: 18,054,355 (GRCm39)		probably benign	Het
Mtmr9	G	A	14: 63,781,226 (GRCm39)		probably benign	Het
Myo1b	G	T	1: 51,836,198 (GRCm39)	A331E	probably damaging	Het
Ncoa6	C	T	2: 155,248,388 (GRCm39)	V1639M	possibly damaging	Het
Nek9	C	T	12: 85,353,120 (GRCm39)	G752R	probably damaging	Het
Nufip2	A	G	11: 77,584,069 (GRCm39)	Y661C	probably benign	Het
Or10w1	T	A	19: 13,632,246 (GRCm39)	V151E	probably damaging	Het
Or1n2	C	T	2: 36,797,516 (GRCm39)	A186V	possibly damaging	Het
Or51t4	A	T	7: 102,598,373 (GRCm39)	I234F	probably damaging	Het
Or7g16	T	C	9: 18,726,992 (GRCm39)	I199M	possibly damaging	Het
Or8g55	G	A	9: 39,784,894 (GRCm39)	G108S	probably benign	Het
Oxct2a	A	G	4: 123,216,322 (GRCm39)	L353S	probably benign	Het
Parvg	A	G	15: 84,222,001 (GRCm39)	I243V	probably benign	Het
Pcdhgb7	C	A	18: 37,886,349 (GRCm39)	N506K	possibly damaging	Het
Peg10	T	TCCA	6: 4,756,451 (GRCm39)		probably benign	Het
Pgghg	G	A	7: 140,525,367 (GRCm39)		probably null	Het
Ppfia1	A	C	7: 144,032,762 (GRCm39)		probably null	Het
Prss37	T	A	6: 40,491,897 (GRCm39)	I228F	probably damaging	Het
Ptpro	A	T	6: 137,403,782 (GRCm39)	K921*	probably null	Het
Rictor	T	G	15: 6,813,067 (GRCm39)	L940R	probably damaging	Het
Rp1	A	G	1: 4,420,183 (GRCm39)	S310P	probably benign	Het
Ryr3	A	G	2: 112,483,564 (GRCm39)	V4091A	probably damaging	Het
Saxo4	T	A	19: 10,459,599 (GRCm39)	Y36F	probably damaging	Het
Sirt5	T	A	13: 43,524,327 (GRCm39)	M33K	possibly damaging	Het
Slc25a30	T	A	14: 76,008,917 (GRCm39)	Y90F	probably benign	Het
Stimate	T	A	14: 30,588,629 (GRCm39)	Y119N	probably damaging	Het
Stk11	G	A	10: 79,964,269 (GRCm39)	D388N	probably benign	Het
Tgm1	C	A	14: 55,949,686 (GRCm39)	R126L	probably benign	Het
Tmem129	G	T	5: 33,811,837 (GRCm39)	T321N	probably benign	Het
Tnfrsf11a	A	T	1: 105,772,244 (GRCm39)		probably null	Het
Tor1aip1	A	G	1: 155,907,190 (GRCm39)	C195R	probably benign	Het
Tpr	A	G	1: 150,284,597 (GRCm39)	E428G	possibly damaging	Het
Trps1	T	A	15: 50,685,769 (GRCm39)	D802V	possibly damaging	Het
Usp17lc	T	A	7: 103,064,316 (GRCm39)	S6T	probably benign	Het
Vangl1	C	A	3: 102,065,758 (GRCm39)	R459L		Het
Vmn1r43	T	C	6: 89,846,937 (GRCm39)	Y183C	probably damaging	Het
Vmn2r110	C	T	17: 20,794,560 (GRCm39)	C703Y	probably damaging	Het
Vmn2r54	T	C	7: 12,363,702 (GRCm39)	Q397R	possibly damaging	Het
Vmn2r88	T	C	14: 51,656,263 (GRCm39)	V824A	probably damaging	Het
Vmn2r89	A	T	14: 51,693,170 (GRCm39)	Y79F	probably benign	Het
Vnn1	T	C	10: 23,780,484 (GRCm39)	S491P	probably benign	Het
Zbbx	A	G	3: 74,968,741 (GRCm39)	F572L	unknown	Het
Zc3h4	A	T	7: 16,168,939 (GRCm39)	Q1091L	unknown	Het
Zfp503	C	T	14: 22,037,286 (GRCm39)	V106I	possibly damaging	Het
Zfp874a	T	C	13: 67,590,647 (GRCm39)	T346A	probably benign	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
IGL03077:Phrf1	APN	7	140,834,881 (GRCm39)	nonsense	probably null
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
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

Predicted Primers

PCR Primer
(F):5'- ACAACCGTTCCTCATGTGGC -3'
(R):5'- TGCAGACTGTTCTTCATTGCTAG -3'

Sequencing Primer
(F):5'- CTGTTTAAGTGCAATGTGCCCCG -3'
(R):5'- CTTCATTGCTAGAGGGGACAC -3'

Posted On

2021-07-15