Mutagenetix > Incidental Mutation

Incidental Mutation 'R9520:Rnf207'

718808

Institutional Source

Beutler Lab

Gene Symbol

Rnf207

Ensembl Gene

ENSMUSG00000058498

Gene Name

ring finger protein 207

Synonyms

D330010C22Rik

MMRRC Submission

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.088) question?

Stock #

R9520 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

152391476-152403450 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 152396234 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 510 (Y510C)

Ref Sequence

ENSEMBL: ENSMUSP00000075540 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000048892] [ENSMUST00000076183] [ENSMUST00000130008] [ENSMUST00000151372] [ENSMUST00000170820]

AlphaFold

Q3V3A7

Predicted Effect

probably benign
Transcript: ENSMUST00000048892

SMART Domains

Protein: ENSMUSP00000043390
Gene: ENSMUSG00000039662

Domain	Start	End	E-Value	Type
transmembrane domain	16	38	N/A	INTRINSIC
transmembrane domain	42	59	N/A	INTRINSIC
transmembrane domain	66	85	N/A	INTRINSIC
Pfam:PEMT	158	263	2.6e-11	PFAM
Pfam:ICMT	163	257	3.7e-37	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000076183
AA Change: Y510C

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

SMART Domains

Protein: ENSMUSP00000075540
Gene: ENSMUSG00000058498
AA Change: Y510C

Domain	Start	End	E-Value	Type
RING	25	63	1.16e-5	SMART
Pfam:zf-B_box	93	145	3.6e-11	PFAM
Pfam:DUF3583	204	378	1.2e-10	PFAM
coiled coil region	422	461	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000130008

SMART Domains

Protein: ENSMUSP00000127196
Gene: ENSMUSG00000058498

Domain	Start	End	E-Value	Type
RING	25	63	5.6e-8	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000151372

SMART Domains

Protein: ENSMUSP00000133950
Gene: ENSMUSG00000039662

Domain	Start	End	E-Value	Type
transmembrane domain	16	38	N/A	INTRINSIC
transmembrane domain	42	59	N/A	INTRINSIC
transmembrane domain	66	88	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000170820
AA Change: Y475C

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

SMART Domains

Protein: ENSMUSP00000129400
Gene: ENSMUSG00000058498
AA Change: Y475C

Domain	Start	End	E-Value	Type
RING	25	63	1.16e-5	SMART
Pfam:zf-B_box	93	145	1e-11	PFAM
low complexity region	236	242	N/A	INTRINSIC
low complexity region	315	326	N/A	INTRINSIC
coiled coil region	387	426	N/A	INTRINSIC

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.1%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 69 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb9	T	C	5: 124,228,176 (GRCm39)	T22A	possibly damaging	Het
Ackr3	T	A	1: 90,141,971 (GRCm39)	Y143*	probably null	Het
Actn1	A	T	12: 80,240,417 (GRCm39)	D223E	probably damaging	Het
Apcdd1	C	T	18: 63,083,190 (GRCm39)	T340I	possibly damaging	Het
B4galnt1	G	A	10: 127,006,580 (GRCm39)	E375K	probably damaging	Het
Cacna1b	A	T	2: 24,651,799 (GRCm39)	S127T	probably damaging	Het
Cbr3	A	G	16: 93,487,318 (GRCm39)	D167G	probably benign	Het
Cdcp1	A	T	9: 123,012,736 (GRCm39)	N270K	possibly damaging	Het
Cep131	A	G	11: 119,968,157 (GRCm39)	V128A	probably benign	Het
Cfhr4	A	G	1: 139,682,135 (GRCm39)	S154P	probably damaging	Het
Chek1	T	C	9: 36,625,121 (GRCm39)	E320G	probably benign	Het
Cit	T	A	5: 116,079,954 (GRCm39)	L755*	probably null	Het
Clstn2	A	T	9: 97,414,763 (GRCm39)	L377Q	probably damaging	Het
Cpne9	A	T	6: 113,281,413 (GRCm39)	D498V	probably damaging	Het
Csad	A	G	15: 102,097,102 (GRCm39)	M1T	probably null	Het
Csmd3	A	G	15: 47,561,608 (GRCm39)	F1323L		Het
Dennd2c	A	T	3: 103,044,484 (GRCm39)	Q355L	probably benign	Het
Fbxw10	G	A	11: 62,750,842 (GRCm39)	S475N	possibly damaging	Het
Foxi3	A	G	6: 70,937,676 (GRCm39)	S303G	probably damaging	Het
Glra1	G	C	11: 55,405,897 (GRCm39)	F372L	probably benign	Het
Gm19410	A	G	8: 36,262,637 (GRCm39)	E858G	probably benign	Het
Gm7168	T	A	17: 14,169,506 (GRCm39)	V291D	probably benign	Het
Gpr15lg	T	A	14: 36,829,343 (GRCm39)	T47S	possibly damaging	Het
Grin2b	T	C	6: 135,710,399 (GRCm39)	Y1049C	probably damaging	Het
Grm2	A	G	9: 106,525,230 (GRCm39)	L24P		Het
Guca1a	T	A	17: 47,711,335 (GRCm39)	I4F	probably benign	Het
H6pd	T	C	4: 150,080,375 (GRCm39)	I157V	possibly damaging	Het
Hectd3	T	A	4: 116,857,882 (GRCm39)	M605K	probably damaging	Het
Hsf2	T	A	10: 57,371,996 (GRCm39)	N32K	probably damaging	Het
Hspa1l	T	A	17: 35,196,972 (GRCm39)	V337D	probably damaging	Het
Iigp1	A	T	18: 60,523,451 (GRCm39)	T190S	probably benign	Het
Iqgap1	T	C	7: 80,393,869 (GRCm39)	R622G	probably benign	Het
Lce1a1	A	T	3: 92,554,109 (GRCm39)	C122S	unknown	Het
Lrfn4	C	T	19: 4,664,237 (GRCm39)	R99H	probably damaging	Het
Lsm1	T	A	8: 26,283,744 (GRCm39)	V52E	possibly damaging	Het
Malrd1	G	A	2: 16,079,631 (GRCm39)	V1783I	unknown	Het
Mast4	T	C	13: 102,925,532 (GRCm39)	K464R	probably damaging	Het
Mpdz	T	C	4: 81,304,555 (GRCm39)	D115G	probably benign	Het
Mtmr3	A	T	11: 4,441,131 (GRCm39)	H507Q	probably damaging	Het
Mycbp2	T	A	14: 103,497,705 (GRCm39)	M956L	probably benign	Het
Myo3b	A	G	2: 70,062,753 (GRCm39)	T346A	possibly damaging	Het
Ndrg2	T	C	14: 52,146,381 (GRCm39)	I140V	probably benign	Het
Nsf	A	G	11: 103,804,709 (GRCm39)	L144P	probably damaging	Het
Or2a25	T	C	6: 42,889,051 (GRCm39)	V198A	probably damaging	Het
Or8d2b	C	T	9: 38,789,039 (GRCm39)	T189I	probably benign	Het
Pck1	G	A	2: 172,997,854 (GRCm39)	V308M	probably damaging	Het
Phip	C	T	9: 82,753,437 (GRCm39)	R1769K	possibly damaging	Het
Plekhg1	T	A	10: 3,906,822 (GRCm39)	C635S		Het
Ppp4r4	A	G	12: 103,500,378 (GRCm39)	I58V	probably benign	Het
Prkacb	T	C	3: 146,456,289 (GRCm39)	Y170C	probably damaging	Het
Rnf145	A	T	11: 44,452,336 (GRCm39)	E438D	possibly damaging	Het
Rph3a	C	T	5: 121,101,903 (GRCm39)	C111Y	probably damaging	Het
Scaf8	C	T	17: 3,248,285 (GRCm39)	R1203W	probably damaging	Het
Sec23a	T	G	12: 59,031,974 (GRCm39)	I448L	probably benign	Het
Slc22a27	T	C	19: 7,843,227 (GRCm39)	Y492C	possibly damaging	Het
Supv3l1	T	C	10: 62,268,181 (GRCm39)	K555E	probably damaging	Het
Tdrd3	T	C	14: 87,724,696 (GRCm39)	S372P	probably damaging	Het
Tgm1	A	G	14: 55,942,296 (GRCm39)	F685S	probably damaging	Het
Usp48	G	A	4: 137,340,996 (GRCm39)	G332E	probably benign	Het
Vmn2r11	T	C	5: 109,201,455 (GRCm39)	T350A	probably benign	Het
Vmn2r25	A	T	6: 123,830,066 (GRCm39)	Y28*	probably null	Het
Vmn2r85	T	A	10: 130,254,993 (GRCm39)	I564L	probably benign	Het
Wdr26	G	T	1: 181,036,587 (GRCm39)	T183K	probably benign	Het
Yjefn3	A	T	8: 70,341,969 (GRCm39)	Y97N	probably damaging	Het
Zbtb38	A	T	9: 96,568,104 (GRCm39)	D993E	probably damaging	Het
Zbtb45	T	C	7: 12,742,012 (GRCm39)	Q82R	probably damaging	Het
Zdhhc8	A	G	16: 18,045,044 (GRCm39)	V254A	probably benign	Het
Zfp648	A	G	1: 154,081,221 (GRCm39)	D460G	probably benign	Het
Zfp760	T	G	17: 21,941,036 (GRCm39)	N70K	probably benign	Het

Other mutations in Rnf207

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01643:Rnf207	APN	4	152,402,718 (GRCm39)	splice site	probably benign
IGL02325:Rnf207	APN	4	152,396,237 (GRCm39)	missense	probably damaging	0.97
IGL02451:Rnf207	APN	4	152,396,869 (GRCm39)	missense	probably benign	0.25
felonius	UTSW	4	152,396,237 (GRCm39)	missense	probably damaging	0.98
perjury	UTSW	4	152,397,672 (GRCm39)	missense	probably benign	0.00
R0311:Rnf207	UTSW	4	152,400,236 (GRCm39)	missense	probably damaging	1.00
R0462:Rnf207	UTSW	4	152,397,829 (GRCm39)	missense	possibly damaging	0.78
R0671:Rnf207	UTSW	4	152,391,925 (GRCm39)	missense	probably benign	0.00
R0845:Rnf207	UTSW	4	152,396,521 (GRCm39)	splice site	probably benign
R1544:Rnf207	UTSW	4	152,398,328 (GRCm39)	splice site	probably benign
R1667:Rnf207	UTSW	4	152,397,672 (GRCm39)	missense	probably benign	0.00
R4052:Rnf207	UTSW	4	152,395,894 (GRCm39)	missense	probably benign	0.41
R4335:Rnf207	UTSW	4	152,400,062 (GRCm39)	splice site	probably benign
R4649:Rnf207	UTSW	4	152,396,612 (GRCm39)	missense	probably benign	0.06
R5033:Rnf207	UTSW	4	152,397,666 (GRCm39)	missense	probably benign	0.00
R5268:Rnf207	UTSW	4	152,398,346 (GRCm39)	missense	probably damaging	1.00
R5603:Rnf207	UTSW	4	152,396,851 (GRCm39)	missense	probably damaging	1.00
R5938:Rnf207	UTSW	4	152,402,385 (GRCm39)	intron	probably benign
R6147:Rnf207	UTSW	4	152,400,112 (GRCm39)	missense	probably damaging	1.00
R6181:Rnf207	UTSW	4	152,393,305 (GRCm39)	missense	probably benign	0.00
R6866:Rnf207	UTSW	4	152,396,989 (GRCm39)	missense	possibly damaging	0.81
R7166:Rnf207	UTSW	4	152,396,237 (GRCm39)	missense	probably damaging	0.98
R7177:Rnf207	UTSW	4	152,396,634 (GRCm39)	missense	probably benign	0.43
R7354:Rnf207	UTSW	4	152,398,548 (GRCm39)	missense	probably damaging	0.96
R7893:Rnf207	UTSW	4	152,395,895 (GRCm39)	missense	probably damaging	0.99
R8200:Rnf207	UTSW	4	152,398,492 (GRCm39)	critical splice donor site	probably null
R8789:Rnf207	UTSW	4	152,391,924 (GRCm39)	missense	probably benign	0.04
R9609:Rnf207	UTSW	4	152,402,222 (GRCm39)	missense	probably damaging	0.99
R9666:Rnf207	UTSW	4	152,397,717 (GRCm39)	missense	probably damaging	1.00
R9758:Rnf207	UTSW	4	152,397,666 (GRCm39)	missense	probably benign	0.06
R9766:Rnf207	UTSW	4	152,400,402 (GRCm39)	missense	probably damaging	1.00
X0026:Rnf207	UTSW	4	152,400,499 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AAAAGTGACATCTGTGATCCGAAG -3'
(R):5'- TACCTTGCCAGACCCTCATG -3'

Sequencing Primer
(F):5'- CGAAGGAGCAGCGTGTG -3'
(R):5'- CCTCATGTTGGGAACTCTGTG -3'

Posted On

2022-07-18