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

140808697-140842663 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 140817586 bp (GRCm39)

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
6430550D23Rik	T	C	2: 155,845,150 (GRCm39)	H113R	possibly damaging	Het
Adgrf3	A	T	5: 30,402,531 (GRCm39)	M499K	probably benign	Het
Adgrv1	G	A	13: 81,255,050 (GRCm39)	T211I	probably damaging	Het
Adss2	C	T	1: 177,604,395 (GRCm39)	E153K	probably benign	Het
Ago4	C	A	4: 126,405,280 (GRCm39)	G431V	possibly damaging	Het
Araf	G	T	X: 20,726,339 (GRCm39)	R601L	probably damaging	Homo
Atp2b4	T	A	1: 133,654,299 (GRCm39)	I769F	probably damaging	Het
Atp9a	T	C	2: 168,531,272 (GRCm39)		probably null	Het
Bltp1	T	C	3: 37,011,148 (GRCm39)	V1782A	probably benign	Het
Brap	C	A	5: 121,803,372 (GRCm39)	D173E	probably benign	Het
Brca2	G	T	5: 150,490,443 (GRCm39)	R3035L	probably benign	Het
Ccdc8	C	A	7: 16,730,176 (GRCm39)	P555Q	probably benign	Het
Ccser2	A	G	14: 36,662,675 (GRCm39)	S170P	probably benign	Het
Celsr2	T	C	3: 108,300,444 (GRCm39)	H860R	probably damaging	Het
Cenpc1	C	A	5: 86,194,244 (GRCm39)	R174M	probably damaging	Het
Cfap57	T	G	4: 118,436,607 (GRCm39)	I930L	probably damaging	Het
Cx3cr1	C	T	9: 119,880,760 (GRCm39)	R214H	probably damaging	Het
Cyp4f14	T	A	17: 33,125,291 (GRCm39)	H429L	probably benign	Het
D5Ertd579e	A	G	5: 36,772,620 (GRCm39)	F592L	probably damaging	Het
Ddb1	A	G	19: 10,603,287 (GRCm39)	E865G	probably damaging	Het
Ddx50	A	T	10: 62,457,345 (GRCm39)		probably null	Het
Dpp6	A	G	5: 27,254,626 (GRCm39)	T14A	probably damaging	Het
Echs1	C	A	7: 139,692,982 (GRCm39)	Q51H	possibly damaging	Het
Ecm2	A	T	13: 49,683,783 (GRCm39)	D587V	probably damaging	Het
Ect2l	A	T	10: 18,016,145 (GRCm39)	Y666N	possibly damaging	Het
Epha2	G	A	4: 141,044,223 (GRCm39)	G342S	probably benign	Het
Fbxo33	C	A	12: 59,252,865 (GRCm39)	K211N	probably benign	Het
Fchsd2	A	G	7: 100,908,983 (GRCm39)		probably null	Het
Fen1	A	G	19: 10,178,051 (GRCm39)	V131A	probably damaging	Het
Fetub	C	T	16: 22,751,081 (GRCm39)	R143C	probably damaging	Het
Flnb	A	G	14: 7,892,092 (GRCm38)	E587G	probably damaging	Het
Foxd3	A	G	4: 99,545,477 (GRCm39)	T206A	possibly damaging	Het
Fut1	A	G	7: 45,268,730 (GRCm39)	E228G	possibly damaging	Het
Galnt13	T	C	2: 54,823,560 (GRCm39)	F379L	probably damaging	Het
Gcnt2	A	C	13: 41,014,717 (GRCm39)	E296A	probably damaging	Het
Gm7145	T	A	1: 117,913,870 (GRCm39)	C251S	probably damaging	Het
Gpam	G	A	19: 55,059,417 (GRCm39)	P810L	probably damaging	Het
Il1rl2	T	A	1: 40,366,726 (GRCm39)	L87M	possibly damaging	Het
Itgae	A	G	11: 73,036,427 (GRCm39)	S1122G	probably damaging	Het
Kcnh7	T	A	2: 63,012,570 (GRCm39)	D46V	probably damaging	Het
Kcnn3	T	G	3: 89,552,830 (GRCm39)	Y511*	probably null	Het
Kdm3b	T	A	18: 34,926,058 (GRCm39)	I66N	probably damaging	Het
Klk1b27	A	T	7: 43,703,974 (GRCm39)	H39L	probably benign	Het
Kmo	C	T	1: 175,487,261 (GRCm39)	T404I	possibly damaging	Het
Krt222	C	T	11: 99,125,884 (GRCm39)		probably null	Het
Magi3	G	C	3: 103,923,013 (GRCm39)	H1235D	probably benign	Het
Mapk8ip1	C	A	2: 92,219,589 (GRCm39)	G81C	probably damaging	Het
Med15	G	A	16: 17,470,609 (GRCm39)	Q583*	probably null	Het
Mroh2a	T	C	1: 88,184,476 (GRCm39)	V1453A	probably benign	Het
Myh13	A	G	11: 67,253,327 (GRCm39)	M1488V	probably benign	Het
Naip2	A	T	13: 100,288,645 (GRCm39)	F1193L	probably damaging	Het
Nop58	T	A	1: 59,742,014 (GRCm39)	M181K	probably damaging	Het
Npepps	A	T	11: 97,104,616 (GRCm39)	V796D	probably damaging	Het
Nr1d1	A	G	11: 98,661,363 (GRCm39)	F301S	probably damaging	Het
Nynrin	G	A	14: 56,105,485 (GRCm39)	V832I	probably damaging	Het
Or13a28	C	A	7: 140,218,346 (GRCm39)	S244Y	probably damaging	Het
Or1j14	T	A	2: 36,418,353 (GRCm39)	C310S	probably benign	Het
Or2ak7	A	T	11: 58,574,830 (GRCm39)	T44S	possibly damaging	Het
Or4e1	T	A	14: 52,701,352 (GRCm39)	Y38F	probably damaging	Het
Or8k1	T	A	2: 86,047,566 (GRCm39)	T163S	possibly damaging	Het
Plekhn1	T	C	4: 156,315,015 (GRCm39)		probably null	Het
Polr2a	G	A	11: 69,635,052 (GRCm39)	T569M	probably damaging	Het
Prr29	A	G	11: 106,267,458 (GRCm39)		probably null	Het
Rsf1	CG	CGACGGCGGAG	7: 97,229,115 (GRCm39)		probably benign	Homo
Sc5d	T	C	9: 42,166,717 (GRCm39)	E274G	probably benign	Het
Serpina1d	A	T	12: 103,731,087 (GRCm39)		probably null	Het
Serpinb11	T	A	1: 107,299,972 (GRCm39)	I106N	probably damaging	Het
Setd2	G	A	9: 110,377,733 (GRCm39)	R516K	probably damaging	Het
Sirt2	G	T	7: 28,487,222 (GRCm39)	C291F	probably damaging	Het
Stac3	T	C	10: 127,344,044 (GRCm39)	V314A	probably damaging	Het
Stat6	C	T	10: 127,493,581 (GRCm39)		probably null	Het
Strn3	A	G	12: 51,656,890 (GRCm39)	V712A	probably damaging	Het
Tmc5	G	T	7: 118,233,437 (GRCm39)	G84C	possibly damaging	Het
Tnik	C	A	3: 28,704,328 (GRCm39)	L996I	probably damaging	Het
Trim30d	G	T	7: 104,136,817 (GRCm39)	T129K	probably damaging	Het
Triml1	G	T	8: 43,591,793 (GRCm39)	Y188*	probably null	Het
Trpc7	A	G	13: 56,921,705 (GRCm39)	Y760H	probably damaging	Het
Uaca	G	A	9: 60,777,326 (GRCm39)	R571Q	probably damaging	Het
Ubash3a	A	T	17: 31,458,246 (GRCm39)	Q575L	possibly damaging	Het
Usp49	T	A	17: 47,983,827 (GRCm39)	C61*	probably null	Het
Vmn2r18	A	T	5: 151,508,116 (GRCm39)	V336E	probably damaging	Het
Vwa8	T	C	14: 79,324,102 (GRCm39)	V1135A	probably benign	Het
Zcchc4	T	C	5: 52,940,503 (GRCm39)	V24A	probably benign	Het
Zfp354c	A	G	11: 50,705,798 (GRCm39)	Y426H	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
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

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