Mutagenetix > Incidental Mutation

Incidental Mutation 'R9060:Rnf214'

720382

Institutional Source

Beutler Lab

Gene Symbol

Rnf214

Ensembl Gene

ENSMUSG00000042790

Gene Name

ring finger protein 214

Synonyms

D130054N24Rik

MMRRC Submission

068886-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.832) question?

Stock #

R9060 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

45774723-45818209 bp(-) (GRCm39)

Type of Mutation

utr 3 prime

DNA Base Change (assembly)

T to C at 45809772 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000125351 (fasta)

Gene Model

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

AlphaFold

Q8BFU3

Predicted Effect

silent
Transcript: ENSMUST00000058720

SMART Domains

Protein: ENSMUSP00000060941
Gene: ENSMUSG00000042790

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

silent
Transcript: ENSMUST00000160699

SMART Domains

Protein: ENSMUSP00000123754
Gene: ENSMUSG00000042790

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

silent
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

silent
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

silent
Transcript: ENSMUST00000162369

Predicted Effect

probably benign
Transcript: ENSMUST00000162699

Predicted Effect

unknown
Transcript: ENSMUST00000213659
AA Change: Q42R

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.3%

Validation Efficiency

98% (54/55)

Allele List at MGI

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

Other mutations in this stock

Total: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acat3	A	C	17: 13,145,293 (GRCm39)	V295G		Het
Agfg1	T	C	1: 82,872,254 (GRCm39)	V529A	possibly damaging	Het
Ap1g2	G	A	14: 55,337,887 (GRCm39)	P667L	probably benign	Het
Arhgap29	T	A	3: 121,783,973 (GRCm39)	S176T	probably damaging	Het
Casq2	A	G	3: 102,052,619 (GRCm39)	D377G	unknown	Het
Ccdc14	T	C	16: 34,517,486 (GRCm39)	L104P	probably benign	Het
Cep104	T	C	4: 154,074,281 (GRCm39)	I511T	probably damaging	Het
Cgn	A	G	3: 94,687,165 (GRCm39)	Y46H	probably damaging	Het
Cilp	T	C	9: 65,186,302 (GRCm39)	V799A	probably benign	Het
Col6a1	A	G	10: 76,557,711 (GRCm39)	V175A	probably benign	Het
Dclk1	C	A	3: 55,163,575 (GRCm39)	D222E	probably benign	Het
Dnah10	G	T	5: 124,905,141 (GRCm39)	C4058F	probably damaging	Het
Dnai4	A	T	4: 102,947,750 (GRCm39)	D175E	probably benign	Het
Elmod3	A	T	6: 72,543,790 (GRCm39)	Y334N	probably damaging	Het
Enah	C	A	1: 181,749,817 (GRCm39)	A341S	probably damaging	Het
Eomes	T	C	9: 118,311,364 (GRCm39)	*396Q	probably null	Het
Epb41l1	T	A	2: 156,345,679 (GRCm39)	Y227*	probably null	Het
Epha5	A	T	5: 84,218,977 (GRCm39)	D765E	probably benign	Het
Fat3	T	C	9: 15,910,782 (GRCm39)	N1740S	possibly damaging	Het
Fhip2a	C	T	19: 57,361,450 (GRCm39)	H125Y	probably damaging	Het
Galnt9	G	A	5: 110,737,710 (GRCm39)	R222H	possibly damaging	Het
Gm19410	A	G	8: 36,269,480 (GRCm39)	D1105G	probably damaging	Het
Hoxa13	T	A	6: 52,236,897 (GRCm39)	Y121F	probably damaging	Het
Hps4	G	A	5: 112,525,905 (GRCm39)	S642N	possibly damaging	Het
Jag1	T	G	2: 136,931,204 (GRCm39)	T643P	probably damaging	Het
Limd1	T	A	9: 123,309,514 (GRCm39)	S404R	probably benign	Het
Micall2	A	T	5: 139,705,035 (GRCm39)	S100T	probably damaging	Het
Miga2	T	A	2: 30,271,735 (GRCm39)	L419Q	probably damaging	Het
Ms4a13	A	C	19: 11,168,950 (GRCm39)	I25S		Het
Nnmt	T	C	9: 48,503,367 (GRCm39)	T220A	probably benign	Het
Nrg3	G	A	14: 38,734,052 (GRCm39)	T278I	probably damaging	Het
Nup98	A	G	7: 101,783,895 (GRCm39)	W1146R	probably damaging	Het
Or13a28	T	G	7: 140,217,695 (GRCm39)	L27R		Het
Or5m10	T	C	2: 85,717,920 (GRCm39)	Y259H	probably benign	Het
Pacsin3	T	C	2: 91,091,557 (GRCm39)	F85L	probably benign	Het
Padi4	T	A	4: 140,477,953 (GRCm39)	D465V	probably damaging	Het
Pakap	A	G	4: 57,855,412 (GRCm39)	E247G	probably damaging	Het
Pclo	A	T	5: 14,726,599 (GRCm39)	Y1819F	unknown	Het
Pitpnm1	C	A	19: 4,156,869 (GRCm39)	T464N	probably damaging	Het
Rrs1	G	A	1: 9,616,677 (GRCm39)	G310D	probably damaging	Het
Rsf1	CGGCGGCGG	CGGCGGCGGGGGCGGCGG	7: 97,229,130 (GRCm39)		probably benign	Het
Slc35e3	A	G	10: 117,581,688 (GRCm39)		probably null	Het
Slc47a2	T	C	11: 61,227,699 (GRCm39)	I142V	probably benign	Het
Slc8a3	G	A	12: 81,260,852 (GRCm39)	R626C	probably benign	Het
Spart	T	C	3: 55,032,275 (GRCm39)	S370P	probably benign	Het
Spata31e1	G	A	13: 49,940,087 (GRCm39)	S541F	probably damaging	Het
Spmap2	G	T	10: 79,420,571 (GRCm39)	L189I	probably damaging	Het
Tle3	T	A	9: 61,282,821 (GRCm39)	M67K	probably damaging	Het
Tmco1	C	T	1: 167,136,132 (GRCm39)		probably benign	Het
Ubr3	T	A	2: 69,839,489 (GRCm39)	Y1534*	probably null	Het
Usp13	T	C	3: 32,965,812 (GRCm39)		probably null	Het
Vmn2r97	T	C	17: 19,134,585 (GRCm39)	M1T	probably null	Het
Zc3h7a	G	A	16: 10,969,047 (GRCm39)	T438I	probably damaging	Het
Zfhx2	A	G	14: 55,311,803 (GRCm39)	V297A	probably benign	Het

Other mutations in Rnf214

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01662:Rnf214	APN	9	45,811,084 (GRCm39)	missense	probably damaging	1.00
IGL02314:Rnf214	APN	9	45,811,105 (GRCm39)	missense	probably benign	0.00
IGL02604:Rnf214	APN	9	45,780,841 (GRCm39)	missense	probably damaging	1.00
IGL02739:Rnf214	APN	9	45,780,772 (GRCm39)	missense	probably benign
Contorted	UTSW	9	45,779,344 (GRCm39)	nonsense	probably null
R0067:Rnf214	UTSW	9	45,778,796 (GRCm39)	critical splice donor site	probably null
R0067:Rnf214	UTSW	9	45,778,796 (GRCm39)	critical splice donor site	probably null
R0091:Rnf214	UTSW	9	45,809,791 (GRCm39)	critical splice acceptor site	probably null
R0375:Rnf214	UTSW	9	45,811,121 (GRCm39)	missense	probably damaging	0.97
R1027:Rnf214	UTSW	9	45,811,187 (GRCm39)	missense	probably benign
R1850:Rnf214	UTSW	9	45,780,746 (GRCm39)	splice site	probably benign
R2424:Rnf214	UTSW	9	45,811,096 (GRCm39)	missense	probably damaging	0.99
R3751:Rnf214	UTSW	9	45,778,901 (GRCm39)	missense	probably damaging	1.00
R3772:Rnf214	UTSW	9	45,777,932 (GRCm39)	missense	possibly damaging	0.83
R4164:Rnf214	UTSW	9	45,783,210 (GRCm39)	missense	probably damaging	0.99
R4969:Rnf214	UTSW	9	45,807,486 (GRCm39)	missense	probably damaging	1.00
R5032:Rnf214	UTSW	9	45,811,042 (GRCm39)	critical splice donor site	probably null
R5647:Rnf214	UTSW	9	45,779,344 (GRCm39)	nonsense	probably null
R5849:Rnf214	UTSW	9	45,779,386 (GRCm39)	missense	probably damaging	1.00
R5894:Rnf214	UTSW	9	45,777,916 (GRCm39)	missense	probably damaging	1.00
R6296:Rnf214	UTSW	9	45,779,119 (GRCm39)	missense	probably benign	0.05
R6467:Rnf214	UTSW	9	45,778,886 (GRCm39)	missense	probably damaging	0.97
R6533:Rnf214	UTSW	9	45,811,361 (GRCm39)	missense	probably benign	0.00
R6621:Rnf214	UTSW	9	45,807,468 (GRCm39)	missense	probably damaging	1.00
R6801:Rnf214	UTSW	9	45,807,403 (GRCm39)	missense	probably damaging	1.00
R6940:Rnf214	UTSW	9	45,802,196 (GRCm39)	missense	probably damaging	0.99
R7398:Rnf214	UTSW	9	45,778,845 (GRCm39)	missense	possibly damaging	0.85
R8554:Rnf214	UTSW	9	45,778,797 (GRCm39)	critical splice donor site	probably null
R8710:Rnf214	UTSW	9	45,778,748 (GRCm39)	unclassified	probably benign
R8962:Rnf214	UTSW	9	45,809,728 (GRCm39)	critical splice donor site	probably null
R9093:Rnf214	UTSW	9	45,811,054 (GRCm39)	missense	probably damaging	0.99
R9215:Rnf214	UTSW	9	45,816,129 (GRCm39)	missense	probably benign	0.12
R9456:Rnf214	UTSW	9	45,779,286 (GRCm39)	missense	possibly damaging	0.79
R9563:Rnf214	UTSW	9	45,811,141 (GRCm39)	missense	possibly damaging	0.81

Predicted Primers

PCR Primer
(F):5'- TTGCTAAAATGTAACAGGCTGGG -3'
(R):5'- GCTTTCTCTTGGGCACATGG -3'

Sequencing Primer
(F):5'- TGGGCCAGGCAGTCCATTC -3'
(R):5'- CTCTTGGGCACATGGTGGAC -3'

Posted On

2022-07-29