Mutagenetix > Incidental Mutation

Incidental Mutation 'R8962:Rnf214'

682399

Institutional Source

Beutler Lab

Gene Symbol

Rnf214

Ensembl Gene

ENSMUSG00000042790

Gene Name

ring finger protein 214

Synonyms

D130054N24Rik

MMRRC Submission

068796-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.842) question?

Stock #

R8962 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

45774723-45818209 bp(-) (GRCm39)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

A to C at 45809728 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000123995 (fasta)

Gene Model

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

AlphaFold

Q8BFU3

Predicted Effect

probably benign
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

probably benign
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

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 null
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 benign
Transcript: ENSMUST00000162369

Predicted Effect

probably benign
Transcript: ENSMUST00000162699

Predicted Effect

probably benign
Transcript: ENSMUST00000213659

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.3%
20x: 97.4%

Validation Efficiency

99% (86/87)

Allele List at MGI

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

Other mutations in this stock

Total: 86 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4931429L15Rik	T	A	9: 46,220,173 (GRCm39)	M120L	probably benign	Het
Abat	A	G	16: 8,396,166 (GRCm39)	T48A	probably damaging	Het
Abca8a	A	T	11: 109,969,634 (GRCm39)	I314N	probably damaging	Het
Abr	A	T	11: 76,352,155 (GRCm39)	V108D	probably damaging	Het
Adamts17	T	G	7: 66,725,057 (GRCm39)	L162V	probably damaging	Het
Adamts6	A	T	13: 104,433,899 (GRCm39)	K109N	probably damaging	Het
Ago3	A	G	4: 126,241,595 (GRCm39)	F68S	probably damaging	Het
Aifm3	T	C	16: 17,324,200 (GRCm39)		probably null	Het
Ankrd26	T	C	6: 118,512,104 (GRCm39)	E506G	probably benign	Het
Apaf1	A	G	10: 90,903,066 (GRCm39)	L185P	probably damaging	Het
Atp8b3	G	T	10: 80,355,896 (GRCm39)	T1272K	probably benign	Het
Cars2	A	G	8: 11,587,304 (GRCm39)	V193A	probably benign	Het
Ccn5	C	T	2: 163,667,160 (GRCm39)	R54*	probably null	Het
Ccr8	A	T	9: 119,923,613 (GRCm39)	I243F	possibly damaging	Het
Col12a1	A	G	9: 79,538,901 (GRCm39)	V2465A	probably damaging	Het
Ctbp1	T	C	5: 33,416,616 (GRCm39)	N127S	probably benign	Het
Ddx10	A	G	9: 53,149,377 (GRCm39)	S117P	probably damaging	Het
Dgkb	T	C	12: 38,189,494 (GRCm39)		probably null	Het
Dnah11	T	A	12: 117,916,273 (GRCm39)	D3520V	probably damaging	Het
Dnah11	C	T	12: 117,918,630 (GRCm39)	D1530N	probably damaging	Het
Dock5	T	C	14: 67,994,640 (GRCm39)	T1807A	probably benign	Het
Drd3	C	T	16: 43,641,842 (GRCm39)	T386I	probably damaging	Het
Dsg1b	A	G	18: 20,542,316 (GRCm39)	N941S	probably damaging	Het
Enpp3	T	C	10: 24,696,513 (GRCm39)	T141A	probably benign	Het
Esyt1	A	T	10: 128,356,566 (GRCm39)	C360S	possibly damaging	Het
Ethe1	T	A	7: 24,305,682 (GRCm39)	V143D	probably damaging	Het
Fam170b	A	G	14: 32,557,336 (GRCm39)	D57G	probably benign	Het
Fam53c	T	C	18: 34,901,229 (GRCm39)	S49P	probably damaging	Het
Fbp1	G	A	13: 63,023,067 (GRCm39)	L77F	probably benign	Het
Gm17093	A	G	14: 44,758,149 (GRCm39)	E110G		Het
Gm21976	G	T	13: 98,423,821 (GRCm39)		silent	Het
Golgb1	T	C	16: 36,733,978 (GRCm39)	I1075T	probably damaging	Het
Grip2	T	C	6: 91,754,391 (GRCm39)	D628G	probably damaging	Het
Gtpbp1	G	T	15: 79,601,929 (GRCm39)	L557F	probably benign	Het
Ighv12-3	A	T	12: 114,330,204 (GRCm39)	F97Y	probably benign	Het
Itga8	T	C	2: 12,196,045 (GRCm39)	H635R	possibly damaging	Het
Itgb7	A	G	15: 102,127,037 (GRCm39)	L466S	probably damaging	Het
Klc2	T	C	19: 5,161,864 (GRCm39)	D277G	probably benign	Het
Ktn1	A	G	14: 47,901,248 (GRCm39)	E2G	probably damaging	Het
Lcmt1	T	A	7: 123,000,669 (GRCm39)	Y68N	probably damaging	Het
Marchf10	G	T	11: 105,280,815 (GRCm39)	S490*	probably null	Het
Mterf1b	A	T	5: 4,246,437 (GRCm39)	Y26F	probably benign	Het
Myo18b	T	A	5: 113,006,346 (GRCm39)	I855F	probably benign	Het
Nek4	G	A	14: 30,675,915 (GRCm39)	M83I	probably damaging	Het
Nicn1	C	T	9: 108,171,708 (GRCm39)	R163C	possibly damaging	Het
Nos1	T	C	5: 118,017,405 (GRCm39)	V256A	probably benign	Het
Nr1h2	T	C	7: 44,201,463 (GRCm39)	T50A	probably benign	Het
Or14c42-ps1	T	A	7: 86,211,317 (GRCm39)	*126K	probably null	Het
Or4n4	A	C	14: 50,518,816 (GRCm39)	M298R	possibly damaging	Het
Ovol2	G	C	2: 144,147,834 (GRCm39)	R172G	probably damaging	Het
Parp14	A	G	16: 35,677,187 (GRCm39)	I927T	probably damaging	Het
Pcdhga7	T	A	18: 37,848,879 (GRCm39)	H295Q	probably benign	Het
Pkhd1l1	C	T	15: 44,400,291 (GRCm39)	T2145I	probably damaging	Het
Plekhs1	C	T	19: 56,461,680 (GRCm39)	T139I	possibly damaging	Het
Rab11fip3	T	A	17: 26,231,007 (GRCm39)	D746V	probably damaging	Het
Rtn4ip1	A	T	10: 43,822,415 (GRCm39)		probably null	Het
S1pr1	T	C	3: 115,505,569 (GRCm39)	R342G		Het
Serpina1f	T	C	12: 103,656,131 (GRCm39)	S366G	probably benign	Het
Sestd1	A	T	2: 77,042,708 (GRCm39)	M282K	probably benign	Het
Siglecf	T	G	7: 43,001,140 (GRCm39)	V36G	probably damaging	Het
Slc1a1	T	C	19: 28,886,869 (GRCm39)	V410A	probably damaging	Het
Slc38a4	C	A	15: 96,917,684 (GRCm39)	D14Y	probably benign	Het
Slk	C	T	19: 47,610,748 (GRCm39)	T806M	probably damaging	Het
Slurp2	C	A	15: 74,615,249 (GRCm39)	V48F	possibly damaging	Het
Socs1	A	G	16: 10,602,642 (GRCm39)	S32P	possibly damaging	Het
Son	T	C	16: 91,455,057 (GRCm39)	V1268A	possibly damaging	Het
Sp7	C	A	15: 102,274,880 (GRCm39)		probably benign	Het
Speer4a2	T	G	5: 26,290,745 (GRCm39)	E142A	probably benign	Het
Taar7b	T	G	10: 23,876,359 (GRCm39)	S175A	probably benign	Het
Tet2	T	C	3: 133,193,804 (GRCm39)	N210S	probably benign	Het
Tkfc	T	C	19: 10,570,700 (GRCm39)	D492G	probably damaging	Het
Tmc7	G	A	7: 118,160,228 (GRCm39)	P203L	probably benign	Het
Trmt9b	A	G	8: 36,972,729 (GRCm39)	K60E	probably damaging	Het
Tshz2	C	A	2: 169,726,524 (GRCm39)	F373L	probably damaging	Het
Ttc29	T	A	8: 79,042,336 (GRCm39)	L307Q	probably damaging	Het
Tubd1	G	A	11: 86,439,659 (GRCm39)	M1I	probably null	Het
Vmn1r62	T	A	7: 5,678,601 (GRCm39)	M94K	probably damaging	Het
Vmn2r125	T	C	4: 156,703,186 (GRCm39)	I188T	possibly damaging	Het
Vmn2r5	T	C	3: 64,398,564 (GRCm39)	D805G	probably damaging	Het
Vmn2r6	A	T	3: 64,463,576 (GRCm39)	D419E	probably damaging	Het
Vps39	A	T	2: 120,174,687 (GRCm39)	Y98*	probably null	Het
Zdbf2	G	A	1: 63,347,162 (GRCm39)	G1847D	probably benign	Het
Zdhhc6	T	C	19: 55,287,239 (GRCm39)	E407G	probably benign	Het
Zfp407	A	G	18: 84,577,057 (GRCm39)	I1352T	probably damaging	Het
Zfp607a	A	G	7: 27,578,786 (GRCm39)	K619E	possibly damaging	Het
Zfp811	A	T	17: 33,017,622 (GRCm39)	N139K	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
R9060:Rnf214	UTSW	9	45,809,772 (GRCm39)	utr 3 prime	probably benign
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'- TCTTCCCTTCAGAGCAGGAC -3'
(R):5'- TGCTTTCTCTTGGGCACATG -3'

Sequencing Primer
(F):5'- CAGGACTGGCATAAAAGATATTGC -3'
(R):5'- GTGTATATGCAAGAACTCTGCTGC -3'

Posted On

2021-08-31