Mutagenetix > Incidental Mutation

Incidental Mutation 'R6866:Rnf207'

535911

Institutional Source

Beutler Lab

Gene Symbol

Rnf207

Ensembl Gene

ENSMUSG00000058498

Gene Name

ring finger protein 207

Synonyms

D330010C22Rik

MMRRC Submission

044965-MU

Accession Numbers

Essential gene?

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

Stock #

R6866 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

152391476-152403450 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 152396989 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Tyrosine at position 385 (C385Y)

Ref Sequence

ENSEMBL: ENSMUSP00000075540 (fasta)

Gene Model

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

AlphaFold

Q3V3A7

Predicted Effect

possibly damaging
Transcript: ENSMUST00000076183
AA Change: C385Y

PolyPhen 2 Score 0.807 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000075540
Gene: ENSMUSG00000058498
AA Change: C385Y

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

possibly damaging
Transcript: ENSMUST00000170820
AA Change: C350Y

PolyPhen 2 Score 0.804 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000129400
Gene: ENSMUSG00000058498
AA Change: C350Y

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: 99.3%
20x: 97.7%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Alms1	A	G	6: 85,598,080 (GRCm39)	T1438A	possibly damaging	Het
Als2	T	A	1: 59,250,292 (GRCm39)	Q484L	probably damaging	Het
Apeh	G	A	9: 107,969,878 (GRCm39)	H186Y	probably damaging	Het
Bcl2l13	T	A	6: 120,839,850 (GRCm39)	N49K	probably benign	Het
Bptf	T	C	11: 106,964,406 (GRCm39)	D1596G	probably damaging	Het
Brsk1	T	C	7: 4,709,406 (GRCm39)	M325T	probably damaging	Het
Caly	T	C	7: 139,650,532 (GRCm39)	M137V	probably benign	Het
Cdca2	T	C	14: 67,931,115 (GRCm39)	E526G	possibly damaging	Het
Cnga4	A	G	7: 105,056,952 (GRCm39)	S352G	possibly damaging	Het
Cntnap5c	A	C	17: 58,399,289 (GRCm39)	T381P	probably benign	Het
Cr2	T	A	1: 194,833,999 (GRCm39)	Y633F	probably damaging	Het
Cryba1	T	C	11: 77,610,355 (GRCm39)	N120S	probably benign	Het
Cyfip2	G	A	11: 46,133,286 (GRCm39)	R805*	probably null	Het
Dnah7c	C	A	1: 46,696,403 (GRCm39)	P2095Q	probably damaging	Het
Eif3k	T	C	7: 28,676,651 (GRCm39)	E110G	possibly damaging	Het
Extl2	T	A	3: 115,821,002 (GRCm39)	M283K	probably damaging	Het
Extl2	A	G	3: 115,821,001 (GRCm39)	M283V	probably damaging	Het
Focad	T	C	4: 88,321,623 (GRCm39)	I1658T	probably benign	Het
Fstl5	A	T	3: 76,229,532 (GRCm39)	H111L	probably damaging	Het
Garnl3	A	G	2: 32,892,785 (GRCm39)		probably null	Het
Gm3633	T	A	14: 42,462,579 (GRCm39)		probably benign	Het
Il4i1	T	A	7: 44,485,963 (GRCm39)		probably null	Het
Kcnj6	A	T	16: 94,563,536 (GRCm39)	C321S	probably damaging	Het
Kif20a	A	T	18: 34,761,546 (GRCm39)	Y313F	probably benign	Het
Kmt2d	T	G	15: 98,755,274 (GRCm39)		probably benign	Het
Kynu	T	A	2: 43,453,122 (GRCm39)	Y48*	probably null	Het
Ly9	T	C	1: 171,432,847 (GRCm39)	I55M	probably damaging	Het
Mgme1	T	C	2: 144,118,439 (GRCm39)	V237A	probably damaging	Het
Mmp16	T	A	4: 17,853,800 (GRCm39)	L27H	probably benign	Het
Mtres1	ACTGCACCACCT	ACT	10: 43,408,721 (GRCm39)		probably benign	Het
Myh1	A	C	11: 67,115,219 (GRCm39)	D1918A	probably damaging	Het
Myo5a	G	A	9: 75,047,970 (GRCm39)	C266Y	probably damaging	Het
Nckap5l	A	G	15: 99,324,349 (GRCm39)	I718T	probably benign	Het
Nptx1	A	G	11: 119,437,476 (GRCm39)		probably null	Het
Or56a42-ps1	T	A	7: 104,775,825 (GRCm39)	M228L	probably benign	Het
Or5k16	A	G	16: 58,736,351 (GRCm39)	Y218H	probably damaging	Het
Or5p76	A	G	7: 108,122,377 (GRCm39)	F260S	probably damaging	Het
Phc3	T	A	3: 30,968,680 (GRCm39)	K783*	probably null	Het
Pkdrej	A	T	15: 85,705,082 (GRCm39)	C285S	probably damaging	Het
Pot1b	T	A	17: 55,960,474 (GRCm39)	T619S	possibly damaging	Het
Pramel32	T	A	4: 88,545,977 (GRCm39)	D455V	probably damaging	Het
Psg21	A	T	7: 18,386,209 (GRCm39)	V259E	probably damaging	Het
Pvr	A	C	7: 19,652,555 (GRCm39)	I120S	probably benign	Het
Rbm17	T	G	2: 11,602,901 (GRCm39)	I68L	probably benign	Het
Rnf138	C	T	18: 21,135,199 (GRCm39)	P28L	probably damaging	Het
Serping1	A	C	2: 84,600,577 (GRCm39)	V255G	probably benign	Het
Slc25a3	A	T	10: 90,955,567 (GRCm39)	V91E	probably damaging	Het
Slc26a8	T	C	17: 28,857,455 (GRCm39)	D896G	probably benign	Het
Slc27a5	T	A	7: 12,731,443 (GRCm39)	T183S	probably benign	Het
Slc33a1	A	T	3: 63,850,744 (GRCm39)	F527I	probably benign	Het
Sting1	T	C	18: 35,872,482 (GRCm39)	H50R	probably damaging	Het
Strn4	A	T	7: 16,562,710 (GRCm39)	D283V	probably damaging	Het
Sult1e1	G	A	5: 87,734,625 (GRCm39)	T107I	probably damaging	Het
Tango6	G	A	8: 107,469,104 (GRCm39)		probably null	Het
Tecrl	G	T	5: 83,461,161 (GRCm39)	P99T	probably damaging	Het
Ticrr	T	C	7: 79,343,705 (GRCm39)	L1190P	possibly damaging	Het
Timm50	C	T	7: 28,005,370 (GRCm39)	R349H	probably damaging	Het
Tjp2	A	G	19: 24,079,355 (GRCm39)	I840T	probably damaging	Het
Tmem45a2	T	A	16: 56,867,386 (GRCm39)	N105I	probably damaging	Het
Tsbp1	T	A	17: 34,678,935 (GRCm39)	C216S	possibly damaging	Het
Zfp148	T	A	16: 33,288,496 (GRCm39)	C162S	probably damaging	Het
Zfp534	T	C	4: 147,758,938 (GRCm39)	K577R	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
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
R9520:Rnf207	UTSW	4	152,396,234 (GRCm39)	missense	probably damaging	1.00
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'- GTGACTTCCAGCCAGACAAC -3'
(R):5'- CACCAAATCGTCTAGTTGCTC -3'

Sequencing Primer
(F):5'- GCCAGACAACTAGATCTTAACGAAG -3'
(R):5'- CTTGCCAGGTGCCCTTGAG -3'

Posted On

2018-10-18