Mutagenetix > Incidental Mutation

Incidental Mutation 'R8708:Phrf1'

669370

Institutional Source

Beutler Lab

Gene Symbol

Phrf1

Ensembl Gene

ENSMUSG00000038611

Gene Name

PHD and ring finger domains 1

Synonyms

MMRRC Submission

068562-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8708 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

140808697-140842663 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 140812446 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 70 (D70G)

Ref Sequence

ENSEMBL: ENSMUSP00000101648 (fasta)

Gene Model

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

AlphaFold

A6H619

Predicted Effect

unknown
Transcript: ENSMUST00000106027
AA Change: D70G

SMART Domains

Protein: ENSMUSP00000101648
Gene: ENSMUSG00000038611
AA Change: D70G

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 benign
Transcript: ENSMUST00000155123
AA Change: D70G

PolyPhen 2 Score 0.325 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000120759
Gene: ENSMUSG00000038611
AA Change: D70G

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

98% (99/101)

Allele List at MGI

Other mutations in this stock

Total: 103 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adra1d	T	C	2: 131,403,400 (GRCm39)	K230R	probably damaging	Het
Ajm1	C	A	2: 25,467,814 (GRCm39)	R699L	possibly damaging	Het
Akp3	T	A	1: 87,054,091 (GRCm39)	Y236*	probably null	Het
Alg11	T	C	8: 22,555,129 (GRCm39)	F130S	probably damaging	Het
Ankfn1	A	T	11: 89,394,756 (GRCm39)	S276R	possibly damaging	Het
Ankhd1	T	A	18: 36,727,344 (GRCm39)	H486Q	probably damaging	Het
Ankrd23	T	C	1: 36,573,169 (GRCm39)	T68A	probably benign	Het
Arhgap23	A	G	11: 97,343,238 (GRCm39)	T507A	probably benign	Het
Arid1a	A	T	4: 133,409,145 (GRCm39)	D1787E	unknown	Het
Atad2b	T	A	12: 5,011,253 (GRCm39)	D504E	probably damaging	Het
Atg2b	T	A	12: 105,635,687 (GRCm39)		probably benign	Het
Bptf	C	A	11: 106,964,139 (GRCm39)	S1685I	probably damaging	Het
Bptf	T	A	11: 106,964,140 (GRCm39)	S1685C	probably damaging	Het
Cacna1c	A	T	6: 118,604,416 (GRCm39)	I1437N		Het
Capn1	T	C	19: 6,061,328 (GRCm39)	K197E	probably damaging	Het
Ccdc177	T	C	12: 80,805,891 (GRCm39)	T128A	probably benign	Het
Ccdc7b	G	T	8: 129,863,095 (GRCm39)	M9I	probably benign	Het
Celf1	T	A	2: 90,840,925 (GRCm39)		probably null	Het
Ckap5	T	A	2: 91,425,823 (GRCm39)	N1285K	probably benign	Het
Col24a1	C	T	3: 145,251,020 (GRCm39)	T1673I	probably damaging	Het
Dbp	A	G	7: 45,359,225 (GRCm39)	E300G	probably damaging	Het
Dchs2	C	A	3: 83,036,049 (GRCm39)	H265Q	probably benign	Het
Dicer1	A	T	12: 104,694,704 (GRCm39)	S198T	possibly damaging	Het
Dnase1l2	A	T	17: 24,661,266 (GRCm39)	F86L	probably benign	Het
Dnhd1	T	G	7: 105,343,487 (GRCm39)	Y1610*	probably null	Het
Dock5	A	G	14: 68,004,820 (GRCm39)	V1529A	probably benign	Het
Egfr	G	T	11: 16,817,300 (GRCm39)		probably benign	Het
Exph5	T	A	9: 53,287,096 (GRCm39)	H1392Q	probably benign	Het
Fam78b	A	G	1: 166,906,332 (GRCm39)	K164E	possibly damaging	Het
Fignl2	C	A	15: 100,950,734 (GRCm39)	R516L	unknown	Het
Fndc7	C	T	3: 108,774,528 (GRCm39)	E577K	probably benign	Het
Fryl	T	C	5: 73,289,905 (GRCm39)	E107G	probably benign	Het
Gbp10	A	T	5: 105,368,831 (GRCm39)	M336K	probably damaging	Het
Gm11444	A	T	11: 85,737,723 (GRCm39)	C156S		Het
Golga3	C	A	5: 110,350,721 (GRCm39)	A752E	probably benign	Het
Gper1	G	T	5: 139,411,690 (GRCm39)	V12L	probably benign	Het
Hmbox1	G	T	14: 65,061,089 (GRCm39)	A394E	probably damaging	Het
Ighv1-71	T	A	12: 115,705,955 (GRCm39)	I77L	probably benign	Het
Ing4	A	T	6: 125,024,895 (GRCm39)	N214Y	probably damaging	Het
Ints8	A	G	4: 11,208,824 (GRCm39)		probably null	Het
Itpa	T	A	2: 130,517,639 (GRCm39)	V129E	probably damaging	Het
Itpripl1	T	A	2: 126,983,262 (GRCm39)	M287L	probably benign	Het
Klc3	T	C	7: 19,129,784 (GRCm39)	I362V	probably damaging	Het
Ky	T	A	9: 102,402,590 (GRCm39)		probably benign	Het
Lasp1	A	G	11: 97,697,709 (GRCm39)	N43S	possibly damaging	Het
Limk2	A	G	11: 3,300,763 (GRCm39)	M380T	probably benign	Het
Lrp2	T	A	2: 69,289,957 (GRCm39)	E3627D	probably damaging	Het
Lrrc25	T	C	8: 71,070,459 (GRCm39)	L80P	probably damaging	Het
Mcoln3	A	T	3: 145,846,276 (GRCm39)	K529*	probably null	Het
Mdn1	A	C	4: 32,725,854 (GRCm39)	D2591A	probably damaging	Het
Med12l	A	G	3: 59,159,751 (GRCm39)	I1267V	probably benign	Het
Mei4	C	A	9: 81,809,595 (GRCm39)	S226*	probably null	Het
Mios	G	A	6: 8,234,255 (GRCm39)	V809M	probably benign	Het
Mmp17	G	A	5: 129,672,486 (GRCm39)	R146Q	possibly damaging	Het
Mob3a	G	A	10: 80,527,218 (GRCm39)	Q36*	probably null	Het
Myo3a	T	A	2: 22,296,607 (GRCm39)		probably benign	Het
Naca	A	T	10: 127,883,943 (GRCm39)	I2125F	probably damaging	Het
Ndst3	A	C	3: 123,322,564 (GRCm39)	S840A	probably benign	Het
Nlrp4c	T	C	7: 6,068,603 (GRCm39)	M168T	probably damaging	Het
Nt5c3	A	G	6: 56,874,758 (GRCm39)		probably null	Het
Or1af1	T	A	2: 37,109,956 (GRCm39)	S152T	probably damaging	Het
Or4a72	C	A	2: 89,405,623 (GRCm39)	G149V	probably damaging	Het
Or5b124	T	C	19: 13,611,401 (GRCm39)	S309P	probably benign	Het
Or6c5	T	A	10: 129,074,678 (GRCm39)	I220N	possibly damaging	Het
Pcgf3	A	G	5: 108,634,063 (GRCm39)	D107G	probably benign	Het
Pde2a	A	G	7: 101,159,588 (GRCm39)	D816G	probably damaging	Het
Phf10	T	A	17: 15,176,261 (GRCm39)	T131S	possibly damaging	Het
Phf11	A	T	14: 59,482,262 (GRCm39)	C164S	probably damaging	Het
Piezo2	A	G	18: 63,226,086 (GRCm39)	L850S	probably damaging	Het
Plcg1	T	A	2: 160,596,473 (GRCm39)		probably benign	Het
Plekhh2	A	T	17: 84,882,421 (GRCm39)	I676L	probably benign	Het
Ppp1r9a	T	G	6: 5,115,196 (GRCm39)	V804G	probably damaging	Het
Ppt2	T	C	17: 34,844,613 (GRCm39)	H180R	possibly damaging	Het
Prdm15	T	C	16: 97,618,066 (GRCm39)	H398R	unknown	Het
Rab26	A	T	17: 24,748,772 (GRCm39)	M208K	probably damaging	Het
Rab31	A	C	17: 65,974,859 (GRCm39)		probably benign	Het
Radil	A	G	5: 142,471,204 (GRCm39)	V1024A	probably damaging	Het
Rorb	A	G	19: 18,960,780 (GRCm39)	I65T	probably damaging	Het
Sall1	A	T	8: 89,759,483 (GRCm39)	V207E	probably damaging	Het
Sart3	A	T	5: 113,882,728 (GRCm39)	M864K	possibly damaging	Het
Sdcbp2	T	A	2: 151,431,457 (GRCm39)	S277T	probably benign	Het
Septin5	A	G	16: 18,443,622 (GRCm39)	V100A	probably benign	Het
Sipa1	C	T	19: 5,710,980 (GRCm39)	R10Q	probably damaging	Het
Ski	A	T	4: 155,245,119 (GRCm39)	S376T	probably damaging	Het
Slc15a4	A	T	5: 127,673,715 (GRCm39)	D566E	probably benign	Het
Srgap2	G	A	1: 131,273,544 (GRCm39)	Q372*	probably null	Het
Stard9	A	G	2: 120,534,059 (GRCm39)	T3439A	probably damaging	Het
Tln1	T	C	4: 43,534,769 (GRCm39)		probably benign	Het
Tmco3	A	G	8: 13,345,998 (GRCm39)	M279V	probably benign	Het
Tmem39b	T	C	4: 129,570,191 (GRCm39)		probably benign	Het
Trio	T	A	15: 27,732,632 (GRCm39)	N3083I	probably damaging	Het
Ube3b	G	A	5: 114,531,151 (GRCm39)	R215Q	probably benign	Het
Ubr1	T	C	2: 120,696,964 (GRCm39)	N1646S	probably benign	Het
Uqcrc1	T	G	9: 108,776,108 (GRCm39)	F270C	probably damaging	Het
Vmn2r108	T	A	17: 20,682,687 (GRCm39)	N839I	probably damaging	Het
Vmn2r75	A	T	7: 85,812,476 (GRCm39)	S514R	probably damaging	Het
Wdfy4	C	G	14: 32,689,489 (GRCm39)	V3016L		Het
Wdr11	A	G	7: 129,200,780 (GRCm39)	N77S	probably benign	Het
Wdr17	C	A	8: 55,093,127 (GRCm39)		probably benign	Het
Wrn	T	A	8: 33,782,671 (GRCm39)	N753I	probably damaging	Het
Zan	A	G	5: 137,461,539 (GRCm39)		probably null	Het
Zfat	T	A	15: 67,956,278 (GRCm39)	T1203S	possibly damaging	Het
Zfhx2	A	C	14: 55,312,509 (GRCm39)	S62A	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
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'- ATATTCCCAGAGCAGCTTTGGC -3'
(R):5'- TCATCCTCTCAGAGCTCCAG -3'

Sequencing Primer
(F):5'- GGCTCCCTGCTTTGACACTG -3'
(R):5'- CCATGGCTTATGTTGCACAATG -3'

Posted On

2021-04-30