Mutagenetix > Incidental Mutation

Incidental Mutation 'R6244:Phrf1'

505456

Institutional Source

Beutler Lab

Gene Symbol

Phrf1

Ensembl Gene

ENSMUSG00000038611

Gene Name

PHD and ring finger domains 1

Synonyms

MMRRC Submission

044435-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6244 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

141228784-141262750 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 141237673 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Serine at position 132 (C132S)

Ref Sequence

ENSEMBL: ENSMUSP00000120759 (fasta)

Gene Model

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

AlphaFold

A6H619

Predicted Effect

unknown
Transcript: ENSMUST00000106027
AA Change: C132S

SMART Domains

Protein: ENSMUSP00000101648
Gene: ENSMUSG00000038611
AA Change: C132S

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

noncoding transcript
Transcript: ENSMUST00000134057

SMART Domains

Protein: ENSMUSP00000118425
Gene: ENSMUSG00000038611

Domain	Start	End	E-Value	Type
RING	27	67	3.78e-5	SMART
C1	91	147	7.05e-2	SMART
PHD	105	151	1.77e-14	SMART
RING	106	150	3.17e0	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000155123
AA Change: C132S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000120759
Gene: ENSMUSG00000038611
AA Change: C132S

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000211144

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.3%
20x: 95.1%

Validation Efficiency

96% (82/85)

Allele List at MGI

Other mutations in this stock

Total: 84 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4932438A13Rik	T	C	3: 36,956,999 (GRCm38)	V1782A	probably benign	Het
6430550D23Rik	T	C	2: 156,003,230 (GRCm38)	H113R	possibly damaging	Het
Adgrf3	A	T	5: 30,197,533 (GRCm38)	M499K	probably benign	Het
Adgrv1	G	A	13: 81,106,931 (GRCm38)	T211I	probably damaging	Het
Adss	C	T	1: 177,776,829 (GRCm38)	E153K	probably benign	Het
Ago4	C	A	4: 126,511,487 (GRCm38)	G431V	possibly damaging	Het
Araf	G	T	X: 20,860,100 (GRCm38)	R601L	probably damaging	Homo
Atp2b4	T	A	1: 133,726,561 (GRCm38)	I769F	probably damaging	Het
Atp9a	T	C	2: 168,689,352 (GRCm38)		probably null	Het
Brap	C	A	5: 121,665,309 (GRCm38)	D173E	probably benign	Het
Brca2	G	T	5: 150,566,978 (GRCm38)	R3035L	probably benign	Het
Ccdc8	C	A	7: 16,996,251 (GRCm38)	P555Q	probably benign	Het
Ccser2	A	G	14: 36,940,718 (GRCm38)	S170P	probably benign	Het
Celsr2	T	C	3: 108,393,128 (GRCm38)	H860R	probably damaging	Het
Cenpc1	C	A	5: 86,046,385 (GRCm38)	R174M	probably damaging	Het
Cfap57	T	G	4: 118,579,410 (GRCm38)	I930L	probably damaging	Het
Cx3cr1	C	T	9: 120,051,694 (GRCm38)	R214H	probably damaging	Het
Cyp4f14	T	A	17: 32,906,317 (GRCm38)	H429L	probably benign	Het
D5Ertd579e	A	G	5: 36,615,276 (GRCm38)	F592L	probably damaging	Het
Ddb1	A	G	19: 10,625,923 (GRCm38)	E865G	probably damaging	Het
Ddx50	A	T	10: 62,621,566 (GRCm38)		probably null	Het
Dpp6	A	G	5: 27,049,628 (GRCm38)	T14A	probably damaging	Het
Echs1	C	A	7: 140,113,069 (GRCm38)	Q51H	possibly damaging	Het
Ecm2	A	T	13: 49,530,307 (GRCm38)	D587V	probably damaging	Het
Ect2l	A	T	10: 18,140,397 (GRCm38)	Y666N	possibly damaging	Het
Epha2	G	A	4: 141,316,912 (GRCm38)	G342S	probably benign	Het
Fbxo33	C	A	12: 59,206,079 (GRCm38)	K211N	probably benign	Het
Fchsd2	A	G	7: 101,259,776 (GRCm38)		probably null	Het
Fen1	A	G	19: 10,200,687 (GRCm38)	V131A	probably damaging	Het
Fetub	C	T	16: 22,932,331 (GRCm38)	R143C	probably damaging	Het
Flnb	A	G	14: 7,892,092 (GRCm38)	E587G	probably damaging	Het
Foxd3	A	G	4: 99,657,240 (GRCm38)	T206A	possibly damaging	Het
Fut1	A	G	7: 45,619,306 (GRCm38)	E228G	possibly damaging	Het
Galnt13	T	C	2: 54,933,548 (GRCm38)	F379L	probably damaging	Het
Gcnt2	A	C	13: 40,861,241 (GRCm38)	E296A	probably damaging	Het
Gm7145	T	A	1: 117,986,140 (GRCm38)	C251S	probably damaging	Het
Gpam	G	A	19: 55,070,985 (GRCm38)	P810L	probably damaging	Het
Il1rl2	T	A	1: 40,327,566 (GRCm38)	L87M	possibly damaging	Het
Itgae	A	G	11: 73,145,601 (GRCm38)	S1122G	probably damaging	Het
Kcnh7	T	A	2: 63,182,226 (GRCm38)	D46V	probably damaging	Het
Kcnn3	T	G	3: 89,645,523 (GRCm38)	Y511*	probably null	Het
Kdm3b	T	A	18: 34,793,005 (GRCm38)	I66N	probably damaging	Het
Klk1b27	A	T	7: 44,054,550 (GRCm38)	H39L	probably benign	Het
Kmo	C	T	1: 175,659,695 (GRCm38)	T404I	possibly damaging	Het
Krt222	C	T	11: 99,235,058 (GRCm38)		probably null	Het
Magi3	G	C	3: 104,015,697 (GRCm38)	H1235D	probably benign	Het
Mapk8ip1	C	A	2: 92,389,244 (GRCm38)	G81C	probably damaging	Het
Med15	G	A	16: 17,652,745 (GRCm38)	Q583*	probably null	Het
Mroh2a	T	C	1: 88,256,754 (GRCm38)	V1453A	probably benign	Het
Myh13	A	G	11: 67,362,501 (GRCm38)	M1488V	probably benign	Het
Naip2	A	T	13: 100,152,137 (GRCm38)	F1193L	probably damaging	Het
Nop58	T	A	1: 59,702,855 (GRCm38)	M181K	probably damaging	Het
Npepps	A	T	11: 97,213,790 (GRCm38)	V796D	probably damaging	Het
Nr1d1	A	G	11: 98,770,537 (GRCm38)	F301S	probably damaging	Het
Nynrin	G	A	14: 55,868,028 (GRCm38)	V832I	probably damaging	Het
Olfr1046	T	A	2: 86,217,222 (GRCm38)	T163S	possibly damaging	Het
Olfr1508	T	A	14: 52,463,895 (GRCm38)	Y38F	probably damaging	Het
Olfr320	A	T	11: 58,684,004 (GRCm38)	T44S	possibly damaging	Het
Olfr342	T	A	2: 36,528,341 (GRCm38)	C310S	probably benign	Het
Olfr61	C	A	7: 140,638,433 (GRCm38)	S244Y	probably damaging	Het
Plekhn1	T	C	4: 156,230,558 (GRCm38)		probably null	Het
Polr2a	G	A	11: 69,744,226 (GRCm38)	T569M	probably damaging	Het
Prr29	A	G	11: 106,376,632 (GRCm38)		probably null	Het
Rsf1	CG	CGACGGCGGAG	7: 97,579,908 (GRCm38)		probably benign	Homo
Sc5d	T	C	9: 42,255,421 (GRCm38)	E274G	probably benign	Het
Serpina1d	A	T	12: 103,764,828 (GRCm38)		probably null	Het
Serpinb11	T	A	1: 107,372,242 (GRCm38)	I106N	probably damaging	Het
Setd2	G	A	9: 110,548,665 (GRCm38)	R516K	probably damaging	Het
Sirt2	G	T	7: 28,787,797 (GRCm38)	C291F	probably damaging	Het
Stac3	T	C	10: 127,508,175 (GRCm38)	V314A	probably damaging	Het
Stat6	C	T	10: 127,657,712 (GRCm38)		probably null	Het
Strn3	A	G	12: 51,610,107 (GRCm38)	V712A	probably damaging	Het
Tmc5	G	T	7: 118,634,214 (GRCm38)	G84C	possibly damaging	Het
Tnik	C	A	3: 28,650,179 (GRCm38)	L996I	probably damaging	Het
Trim30d	G	T	7: 104,487,610 (GRCm38)	T129K	probably damaging	Het
Triml1	G	T	8: 43,138,756 (GRCm38)	Y188*	probably null	Het
Trpc7	A	G	13: 56,773,892 (GRCm38)	Y760H	probably damaging	Het
Uaca	G	A	9: 60,870,044 (GRCm38)	R571Q	probably damaging	Het
Ubash3a	A	T	17: 31,239,272 (GRCm38)	Q575L	possibly damaging	Het
Usp49	T	A	17: 47,672,902 (GRCm38)	C61*	probably null	Het
Vmn2r18	A	T	5: 151,584,651 (GRCm38)	V336E	probably damaging	Het
Vwa8	T	C	14: 79,086,662 (GRCm38)	V1135A	probably benign	Het
Zcchc4	T	C	5: 52,783,161 (GRCm38)	V24A	probably benign	Het
Zfp354c	A	G	11: 50,814,971 (GRCm38)	Y426H	probably benign	Het

Other mutations in Phrf1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00551:Phrf1	APN	7	141,258,877 (GRCm38)	unclassified	probably benign
IGL01391:Phrf1	APN	7	141,262,481 (GRCm38)	missense	probably damaging	1.00
IGL01472:Phrf1	APN	7	141,256,490 (GRCm38)	splice site	probably benign
IGL01633:Phrf1	APN	7	141,260,500 (GRCm38)	missense	probably benign	0.43
IGL01808:Phrf1	APN	7	141,260,966 (GRCm38)	missense	probably damaging	1.00
IGL02004:Phrf1	APN	7	141,260,333 (GRCm38)	missense	probably benign	0.39
IGL02138:Phrf1	APN	7	141,259,283 (GRCm38)	unclassified	probably benign
IGL02678:Phrf1	APN	7	141,260,282 (GRCm38)	missense	probably damaging	1.00
IGL03077:Phrf1	APN	7	141,254,968 (GRCm38)	nonsense	probably null
PIT4466001:Phrf1	UTSW	7	141,258,812 (GRCm38)	missense	unknown
R0036:Phrf1	UTSW	7	141,261,780 (GRCm38)	missense	probably damaging	1.00
R0036:Phrf1	UTSW	7	141,261,780 (GRCm38)	missense	probably damaging	1.00
R0040:Phrf1	UTSW	7	141,243,857 (GRCm38)	missense	probably damaging	1.00
R0358:Phrf1	UTSW	7	141,258,304 (GRCm38)	unclassified	probably benign
R0445:Phrf1	UTSW	7	141,247,331 (GRCm38)	utr 3 prime	probably benign
R0535:Phrf1	UTSW	7	141,260,065 (GRCm38)	missense	probably benign	0.07
R0561:Phrf1	UTSW	7	141,254,963 (GRCm38)	missense	probably benign	0.00
R0940:Phrf1	UTSW	7	141,254,855 (GRCm38)	splice site	probably benign
R1499:Phrf1	UTSW	7	141,256,651 (GRCm38)	missense	probably damaging	1.00
R1511:Phrf1	UTSW	7	141,259,801 (GRCm38)	unclassified	probably benign
R1651:Phrf1	UTSW	7	141,237,521 (GRCm38)	missense	probably benign
R1691:Phrf1	UTSW	7	141,261,874 (GRCm38)	nonsense	probably null
R1778:Phrf1	UTSW	7	141,232,456 (GRCm38)	missense	probably benign	0.01
R1851:Phrf1	UTSW	7	141,240,918 (GRCm38)	missense	probably damaging	1.00
R2239:Phrf1	UTSW	7	141,237,692 (GRCm38)	missense	probably damaging	1.00
R2857:Phrf1	UTSW	7	141,259,680 (GRCm38)	unclassified	probably benign
R3796:Phrf1	UTSW	7	141,259,918 (GRCm38)	nonsense	probably null
R3797:Phrf1	UTSW	7	141,259,918 (GRCm38)	nonsense	probably null
R3798:Phrf1	UTSW	7	141,259,918 (GRCm38)	nonsense	probably null
R3799:Phrf1	UTSW	7	141,259,918 (GRCm38)	nonsense	probably null
R4080:Phrf1	UTSW	7	141,259,720 (GRCm38)	unclassified	probably benign
R4081:Phrf1	UTSW	7	141,259,057 (GRCm38)	unclassified	probably benign
R4557:Phrf1	UTSW	7	141,258,929 (GRCm38)	unclassified	probably benign
R5217:Phrf1	UTSW	7	141,260,703 (GRCm38)	missense	probably damaging	1.00
R5218:Phrf1	UTSW	7	141,261,301 (GRCm38)	missense	possibly damaging	0.94
R5276:Phrf1	UTSW	7	141,259,283 (GRCm38)	unclassified	probably benign
R5442:Phrf1	UTSW	7	141,240,937 (GRCm38)	missense	probably damaging	1.00
R5501:Phrf1	UTSW	7	141,259,921 (GRCm38)	missense	possibly damaging	0.91
R5695:Phrf1	UTSW	7	141,258,465 (GRCm38)	unclassified	probably benign
R5837:Phrf1	UTSW	7	141,260,061 (GRCm38)	missense	probably benign	0.34
R5907:Phrf1	UTSW	7	141,260,540 (GRCm38)	missense	possibly damaging	0.79
R5996:Phrf1	UTSW	7	141,259,102 (GRCm38)	unclassified	probably benign
R6024:Phrf1	UTSW	7	141,258,985 (GRCm38)	unclassified	probably benign
R6512:Phrf1	UTSW	7	141,260,396 (GRCm38)	missense	possibly damaging	0.88
R7016:Phrf1	UTSW	7	141,237,563 (GRCm38)	missense	probably damaging	0.98
R7311:Phrf1	UTSW	7	141,240,933 (GRCm38)	missense	unknown
R7409:Phrf1	UTSW	7	141,259,292 (GRCm38)	missense	unknown
R7517:Phrf1	UTSW	7	141,256,610 (GRCm38)	missense	unknown
R7560:Phrf1	UTSW	7	141,231,225 (GRCm38)	critical splice acceptor site	probably null
R7699:Phrf1	UTSW	7	141,254,929 (GRCm38)	missense	unknown
R7700:Phrf1	UTSW	7	141,254,929 (GRCm38)	missense	unknown
R7867:Phrf1	UTSW	7	141,256,611 (GRCm38)	missense	unknown
R7895:Phrf1	UTSW	7	141,259,375 (GRCm38)	missense	unknown
R8179:Phrf1	UTSW	7	141,256,580 (GRCm38)	missense	unknown
R8705:Phrf1	UTSW	7	141,258,738 (GRCm38)	missense	unknown
R8708:Phrf1	UTSW	7	141,232,533 (GRCm38)	missense	unknown
R8748:Phrf1	UTSW	7	141,258,235 (GRCm38)	missense	unknown
R8768:Phrf1	UTSW	7	141,258,738 (GRCm38)	missense	unknown
R8789:Phrf1	UTSW	7	141,256,668 (GRCm38)	missense	unknown
R8859:Phrf1	UTSW	7	141,256,603 (GRCm38)	missense	unknown
R8991:Phrf1	UTSW	7	141,243,758 (GRCm38)	missense	unknown
R9086:Phrf1	UTSW	7	141,259,499 (GRCm38)	missense	unknown
R9158:Phrf1	UTSW	7	141,256,553 (GRCm38)	missense	unknown
R9287:Phrf1	UTSW	7	141,260,142 (GRCm38)	missense	probably benign	0.35
R9561:Phrf1	UTSW	7	141,254,902 (GRCm38)	missense	unknown
X0027:Phrf1	UTSW	7	141,256,568 (GRCm38)	missense	probably benign
Z1176:Phrf1	UTSW	7	141,258,818 (GRCm38)	missense	unknown
Z1176:Phrf1	UTSW	7	141,243,883 (GRCm38)	missense	unknown

Predicted Primers

PCR Primer
(F):5'- GGTAGTCCCTGAACATGCAC -3'
(R):5'- AGAGTCATCCTTTCTCACCCAG -3'

Sequencing Primer
(F):5'- CCATTTATCCAAGGTTCTGAAGACTC -3'
(R):5'- AGTCATCCTTTCTCACCCAGTAACAG -3'

Posted On

2018-02-28