Mutagenetix > Incidental Mutation

Incidental Mutation 'R0375:Rnf214'

30695

Institutional Source

Beutler Lab

Gene Symbol

Rnf214

Ensembl Gene

ENSMUSG00000042790

Gene Name

ring finger protein 214

Synonyms

D130054N24Rik

MMRRC Submission

038581-MU

Accession Numbers

Ncbi RefSeq: NM_178709.4; MGI:2444451

Essential gene?

Probably essential (E-score: 0.836) question?

Stock #

R0375 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

45863425-45906911 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 45899823 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Phenylalanine at position 181 (V181F)

Ref Sequence

ENSEMBL: ENSMUSP00000149889 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000058720] [ENSMUST00000160699] [ENSMUST00000160811] [ENSMUST00000161187] [ENSMUST00000161203] [ENSMUST00000162369] [ENSMUST00000162699] [ENSMUST00000213659]

AlphaFold

Q8BFU3

Predicted Effect

probably damaging
Transcript: ENSMUST00000058720
AA Change: V181F

PolyPhen 2 Score 0.970 (Sensitivity: 0.77; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000060941
Gene: ENSMUSG00000042790
AA Change: V181F

Domain	Start	End	E-Value	Type
low complexity region	187	196	N/A	INTRINSIC
SCOP:d1eq1a_	235	382	3e-5	SMART
low complexity region	428	444	N/A	INTRINSIC
low complexity region	493	504	N/A	INTRINSIC
low complexity region	522	539	N/A	INTRINSIC
RING	620	664	3.42e-2	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000160325

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000160469

Predicted Effect

probably damaging
Transcript: ENSMUST00000160699
AA Change: V181F

PolyPhen 2 Score 0.970 (Sensitivity: 0.77; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000123754
Gene: ENSMUSG00000042790
AA Change: V181F

Domain	Start	End	E-Value	Type
low complexity region	187	196	N/A	INTRINSIC
SCOP:d1eq1a_	235	382	3e-5	SMART
low complexity region	428	444	N/A	INTRINSIC
low complexity region	493	504	N/A	INTRINSIC
low complexity region	522	539	N/A	INTRINSIC
RING	620	664	3.42e-2	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000160811

Predicted Effect

probably benign
Transcript: ENSMUST00000161187

SMART Domains

Protein: ENSMUSP00000124296
Gene: ENSMUSG00000042790

Domain	Start	End	E-Value	Type
coiled coil region	65	224	N/A	INTRINSIC
low complexity region	273	289	N/A	INTRINSIC
low complexity region	338	349	N/A	INTRINSIC
low complexity region	367	384	N/A	INTRINSIC
RING	465	509	3.42e-2	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000161203

SMART Domains

Protein: ENSMUSP00000123995
Gene: ENSMUSG00000042790

Domain	Start	End	E-Value	Type
SCOP:d1eq1a_	80	227	2e-5	SMART
low complexity region	273	289	N/A	INTRINSIC
low complexity region	338	349	N/A	INTRINSIC
low complexity region	367	384	N/A	INTRINSIC
RING	500	544	3.42e-2	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000162369
AA Change: V181F

PolyPhen 2 Score 0.970 (Sensitivity: 0.77; Specificity: 0.96)

Predicted Effect

probably benign
Transcript: ENSMUST00000162699

Predicted Effect

probably benign
Transcript: ENSMUST00000213659

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000215005

Meta Mutation Damage Score

0.0687

Coding Region Coverage

1x: 99.2%
3x: 98.3%
10x: 96.2%
20x: 92.7%

Validation Efficiency

100% (61/61)

Allele List at MGI

All alleles(12) : Targeted(3) Gene trapped(9)

Other mutations in this stock

Total: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4932438A13Rik	C	T	3: 37,046,252	T4707I	probably damaging	Het
5730522E02Rik	T	A	11: 25,769,092	Y17F	unknown	Het
Aars2	A	G	17: 45,514,550	D313G	probably damaging	Het
Abca9	A	T	11: 110,115,447	D1277E	probably benign	Het
Adgrl1	G	T	8: 83,934,901	A981S	probably damaging	Het
Aff3	T	G	1: 38,204,940	K917Q	possibly damaging	Het
BC049715	A	T	6: 136,839,996	H78L	probably benign	Het
Cacna1g	C	A	11: 94,411,054	A2027S	possibly damaging	Het
Camk1g	G	A	1: 193,356,401		probably benign	Het
Carf	T	C	1: 60,144,002	V386A	probably damaging	Het
Cd46	A	G	1: 195,086,164	S82P	probably benign	Het
Clic5	A	G	17: 44,270,623	E180G	possibly damaging	Het
Col27a1	A	G	4: 63,225,661	T529A	probably benign	Het
Col7a1	C	T	9: 108,980,237	R2627C	unknown	Het
Cuzd1	G	A	7: 131,311,908		probably benign	Het
Cwc27	T	C	13: 104,807,823	D50G	possibly damaging	Het
Dhx38	A	G	8: 109,555,181	V735A	possibly damaging	Het
Dhx57	T	G	17: 80,258,121	E834A	probably damaging	Het
Dsg4	A	G	18: 20,470,879	D801G	probably damaging	Het
Dtx1	T	C	5: 120,681,399	E578G	probably damaging	Het
F830016B08Rik	A	T	18: 60,300,193	H116L	probably damaging	Het
Fam208b	A	G	13: 3,596,842	V61A	possibly damaging	Het
Fbxw18	T	C	9: 109,688,839	I360V	possibly damaging	Het
Fignl2	G	A	15: 101,054,093	P103S	probably benign	Het
Frmpd1	A	G	4: 45,284,196	T1006A	probably benign	Het
Ggnbp2	G	T	11: 84,836,374	C545*	probably null	Het
Gm3336	A	G	8: 70,718,645		probably benign	Het
Gpr37	T	C	6: 25,669,291	N518S	probably benign	Het
Hbs1l	T	A	10: 21,342,541	D312E	possibly damaging	Het
Hoxd10	C	A	2: 74,692,720	S247R	probably benign	Het
Ifnb1	A	T	4: 88,522,744	F11I	probably benign	Het
Marf1	T	C	16: 14,151,320		probably benign	Het
Myo1f	T	A	17: 33,601,956	V879E	probably benign	Het
Naip1	A	G	13: 100,409,148	F1291L	probably benign	Het
Nckap1l	A	G	15: 103,474,159	E529G	probably damaging	Het
Npm3	T	C	19: 45,748,229	E157G	probably damaging	Het
Olfr1200	T	A	2: 88,767,641	T225S	possibly damaging	Het
Olfr1240	G	T	2: 89,439,396	N294K	probably benign	Het
Olfr248	A	G	1: 174,391,209	T47A	probably damaging	Het
Pex16	G	A	2: 92,380,457	G312D	probably damaging	Het
Ppp6r1	A	G	7: 4,633,287	V768A	probably benign	Het
Prrc1	A	G	18: 57,362,492	T14A	probably damaging	Het
Ranbp2	T	C	10: 58,477,283	L1275P	probably damaging	Het
Ror2	T	C	13: 53,132,004	N58S	probably damaging	Het
Selplg	G	A	5: 113,820,008	T79I	probably damaging	Het
Setd1b	G	A	5: 123,157,437	G1023S	unknown	Het
Sf3b2	C	T	19: 5,274,824	D845N	probably damaging	Het
Skint5	A	G	4: 113,705,596	V803A	unknown	Het
Slc25a46	T	C	18: 31,583,266	I394M	possibly damaging	Het
Snrnp27	A	T	6: 86,680,953	I101K	possibly damaging	Het
Spag17	C	A	3: 100,027,590	T704K	probably benign	Het
Tas2r144	T	A	6: 42,216,124	M266K	possibly damaging	Het
Tbc1d31	T	A	15: 57,955,350	L783H	probably benign	Het
Tbck	C	A	3: 132,751,232		probably benign	Het
Vcan	A	G	13: 89,691,275	V2050A	probably damaging	Het
Vmn1r70	T	A	7: 10,634,060	N158K	probably damaging	Het
Vmn2r103	A	G	17: 19,793,464	T173A	probably benign	Het
Vmn2r103	T	A	17: 19,792,859	Y81N	probably benign	Het
Ylpm1	T	G	12: 85,014,980	S552A	unknown	Het
Zdhhc17	A	T	10: 110,982,106	Y58*	probably null	Het

Other mutations in Rnf214

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01662:Rnf214	APN	9	45899786	missense	probably damaging	1.00
IGL02314:Rnf214	APN	9	45899807	missense	probably benign	0.00
IGL02604:Rnf214	APN	9	45869543	missense	probably damaging	1.00
IGL02739:Rnf214	APN	9	45869474	missense	probably benign
Contorted	UTSW	9	45868046	nonsense	probably null
R0067:Rnf214	UTSW	9	45867498	critical splice donor site	probably null
R0067:Rnf214	UTSW	9	45867498	critical splice donor site	probably null
R0091:Rnf214	UTSW	9	45898493	critical splice acceptor site	probably null
R1027:Rnf214	UTSW	9	45899889	missense	probably benign
R1850:Rnf214	UTSW	9	45869448	splice site	probably benign
R2424:Rnf214	UTSW	9	45899798	missense	probably damaging	0.99
R3751:Rnf214	UTSW	9	45867603	missense	probably damaging	1.00
R3772:Rnf214	UTSW	9	45866634	missense	possibly damaging	0.83
R4164:Rnf214	UTSW	9	45871912	missense	probably damaging	0.99
R4969:Rnf214	UTSW	9	45896188	missense	probably damaging	1.00
R5032:Rnf214	UTSW	9	45899744	critical splice donor site	probably null
R5647:Rnf214	UTSW	9	45868046	nonsense	probably null
R5849:Rnf214	UTSW	9	45868088	missense	probably damaging	1.00
R5894:Rnf214	UTSW	9	45866618	missense	probably damaging	1.00
R6296:Rnf214	UTSW	9	45867821	missense	probably benign	0.05
R6467:Rnf214	UTSW	9	45867588	missense	probably damaging	0.97
R6533:Rnf214	UTSW	9	45900063	missense	probably benign	0.00
R6621:Rnf214	UTSW	9	45896170	missense	probably damaging	1.00
R6801:Rnf214	UTSW	9	45896105	missense	probably damaging	1.00
R6940:Rnf214	UTSW	9	45890898	missense	probably damaging	0.99
R7398:Rnf214	UTSW	9	45867547	missense	possibly damaging	0.85
R8554:Rnf214	UTSW	9	45867499	critical splice donor site	probably null
R8710:Rnf214	UTSW	9	45867450	unclassified	probably benign
R8962:Rnf214	UTSW	9	45898430	critical splice donor site	probably null
R9060:Rnf214	UTSW	9	45898474	utr 3 prime	probably benign
R9093:Rnf214	UTSW	9	45899756	missense	probably damaging	0.99
R9215:Rnf214	UTSW	9	45904831	missense	probably benign	0.12
R9456:Rnf214	UTSW	9	45867988	missense	possibly damaging	0.79
R9563:Rnf214	UTSW	9	45899843	missense	possibly damaging	0.81

Predicted Primers

PCR Primer
(F):5'- TGACACAATGCAGTTCTCTACCACC -3'
(R):5'- ACAGCCCTTTGTCTTTCTGGCAATG -3'

Sequencing Primer
(F):5'- ATGCAGTTCTCTACCACCTAAATGG -3'
(R):5'- CTGATTTGAAGGACTTGACCAACC -3'

Posted On

2013-04-24