Mutagenetix > Incidental Mutations

Incidental Mutation 'R6621:Rnf214'

524449

Institutional Source

Beutler Lab

Gene Symbol

Rnf214

Ensembl Gene

ENSMUSG00000042790

Gene Name

ring finger protein 214

Synonyms

D130054N24Rik

MMRRC Submission

Accession Numbers

Ncbi RefSeq: NM_178709.4; MGI:2444451

Is this an essential gene?

Probably essential (E-score: 0.776) question?

Stock #

R6621 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

45863425-45906911 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 45896170 bp

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 245 (D245G)

Ref Sequence

ENSEMBL: ENSMUSP00000149889 (fasta)

Gene Model

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000058720
AA Change: D245G

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

SMART Domains

Protein: ENSMUSP00000060941
Gene: ENSMUSG00000042790
AA Change: D245G

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: D245G

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

SMART Domains

Protein: ENSMUSP00000123754
Gene: ENSMUSG00000042790
AA Change: D245G

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 damaging
Transcript: ENSMUST00000161187
AA Change: D90G

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000124296
Gene: ENSMUSG00000042790
AA Change: D90G

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

possibly damaging
Transcript: ENSMUST00000161203
AA Change: D90G

PolyPhen 2 Score 0.820 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000123995
Gene: ENSMUSG00000042790
AA Change: D90G

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: D245G

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

Predicted Effect

probably benign
Transcript: ENSMUST00000162699

Predicted Effect

probably benign
Transcript: ENSMUST00000213659

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000215005

Coding Region Coverage

1x: 99.9%
3x: 99.5%
10x: 97.7%
20x: 92.6%

Validation Efficiency

100% (36/36)

Allele List at MGI

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

Other mutations in this stock

Total: 35 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
6430548M08Rik	C	T	8: 120,145,423	T30M	possibly damaging	Het
Abcb8	T	C	5: 24,394,510	F8L	probably benign	Het
Akap13	G	T	7: 75,569,981	C44F	probably damaging	Het
Ankrd34a	A	G	3: 96,598,215	N245S	possibly damaging	Het
Ccdc186	T	C	19: 56,813,487	D66G	probably benign	Het
Chat	C	T	14: 32,419,013	A476T	probably damaging	Het
Cpsf1	T	C	15: 76,603,519	D100G	probably damaging	Het
Cpt1a	T	A	19: 3,378,472	F615L	probably damaging	Het
Dpp4	T	A	2: 62,352,140	D599V	probably damaging	Het
Dpysl5	T	C	5: 30,784,469		probably null	Het
Fam234a	A	G	17: 26,213,881	L460P	probably damaging	Het
Fsip2	T	G	2: 82,989,814	V5297G	possibly damaging	Het
Gm28363	A	G	1: 117,727,357	D102G	probably benign	Het
Greb1	A	G	12: 16,692,717	V1377A	probably damaging	Het
Hat1	T	A	2: 71,421,715	F264I	probably benign	Het
Kif3a	A	G	11: 53,579,130	I152M	probably damaging	Het
Lemd2	T	C	17: 27,195,392	S323G	probably benign	Het
Manea	T	C	4: 26,340,363		probably null	Het
Mcm9	T	C	10: 53,563,313	E588G	probably damaging	Het
Mllt3	T	G	4: 87,840,797	K338T	possibly damaging	Het
Nrxn1	T	C	17: 90,162,182	T1324A	probably damaging	Het
Nudt8	T	A	19: 4,001,320	Y64N	probably benign	Het
Olfr1137	A	G	2: 87,711,555	V117A	probably benign	Het
Olfr1387	A	G	11: 49,459,771	I31V	probably benign	Het
Olfr194	A	T	16: 59,119,924	W49R	probably benign	Het
Olfr25	A	T	9: 38,330,462	I289F	probably damaging	Het
Olfr60	A	G	7: 140,345,455	F178S	probably damaging	Het
Olfr615	A	G	7: 103,560,878	T134A	possibly damaging	Het
Osm	T	A	11: 4,239,541	D108E	probably benign	Het
Pde8a	A	G	7: 81,293,130		probably null	Het
Phtf2	T	C	5: 20,812,956		probably benign	Het
Slc10a7	T	C	8: 78,515,634	I50T	probably damaging	Het
Slc5a6	A	G	5: 31,040,778	V251A	probably damaging	Het
Sun3	T	A	11: 9,016,242	T320S	probably damaging	Het
Zfp174	A	G	16: 3,847,955	E28G	probably damaging	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
R0375:Rnf214	UTSW	9	45899823	missense	probably damaging	0.97
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
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

Predicted Primers

PCR Primer
(F):5'- ACACAATACTTATCTGAGTTGCCA -3'
(R):5'- CAAATGCTTGTGCGTGCTTCAG -3'

Sequencing Primer
(F):5'- TTTTGTGGTTCTGGGAATCGAACC -3'
(R):5'- GGTTGATAGAACACTTGCCATCGC -3'

Posted On

2018-06-22