Mutagenetix > Incidental Mutation

Incidental Mutation 'R5665:Rnf114'

444315

Institutional Source

Beutler Lab

Gene Symbol

Rnf114

Ensembl Gene

ENSMUSG00000006418

Gene Name

ring finger protein 114

Synonyms

1110008J21Rik, Zfp313, Znf228

MMRRC Submission

043308-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5665 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

167492645-167516173 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 167510934 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 118 (I118T)

Ref Sequence

ENSEMBL: ENSMUSP00000104837 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000078050] [ENSMUST00000109214] [ENSMUST00000127939]

AlphaFold

Q9ET26

Predicted Effect

possibly damaging
Transcript: ENSMUST00000078050
AA Change: I118T

PolyPhen 2 Score 0.795 (Sensitivity: 0.85; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000077197
Gene: ENSMUSG00000006418
AA Change: I118T

Domain	Start	End	E-Value	Type
RING	30	68	3.47e-4	SMART
ZnF_C2H2	142	165	4.05e-1	SMART
ZnF_C2H2	172	200	5.83e1	SMART
low complexity region	204	216	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000109214
AA Change: I118T

PolyPhen 2 Score 0.795 (Sensitivity: 0.85; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000104837
Gene: ENSMUSG00000006418
AA Change: I118T

Domain	Start	End	E-Value	Type
RING	30	68	3.47e-4	SMART
ZnF_C2H2	142	165	4.05e-1	SMART
ZnF_C2H2	172	200	5.83e1	SMART
low complexity region	204	216	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000127939

SMART Domains

Protein: ENSMUSP00000138430
Gene: ENSMUSG00000006418

Domain	Start	End	E-Value	Type
SCOP:d1fbva4	6	48	1e-7	SMART
Blast:RING	30	48	8e-6	BLAST

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.3%
20x: 95.4%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 73 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930505A04Rik	C	T	11: 30,426,349 (GRCm38)	V173M	probably damaging	Het
Acaca	G	T	11: 84,245,294 (GRCm38)	E492*	probably null	Het
Acp7	T	A	7: 28,616,543 (GRCm38)	K206M	probably benign	Het
Agbl1	T	A	7: 76,589,503 (GRCm38)	F584I	probably damaging	Het
Ahi1	A	G	10: 21,055,047 (GRCm38)	I929V	possibly damaging	Het
Ank3	G	A	10: 70,002,565 (GRCm38)	R1566K	possibly damaging	Het
Arhgef40	A	G	14: 52,000,900 (GRCm38)	I1279V	possibly damaging	Het
Arl14	A	C	3: 69,223,038 (GRCm38)	T173P	probably damaging	Het
Asap1	A	G	15: 64,312,453 (GRCm38)	S44P	probably damaging	Het
Btbd7	C	A	12: 102,785,197 (GRCm38)	A1103S	probably benign	Het
Capn10	T	A	1: 92,937,931 (GRCm38)		probably null	Het
Capn7	T	C	14: 31,369,802 (GRCm38)	F719L	probably benign	Het
Casp7	G	A	19: 56,440,982 (GRCm38)	D267N	probably benign	Het
Ccdc13	C	A	9: 121,814,290 (GRCm38)	K348N	probably damaging	Het
Chchd1	T	C	14: 20,703,110 (GRCm38)	F13L	probably benign	Het
Clcn6	T	A	4: 148,014,561 (GRCm38)	M442L	possibly damaging	Het
Col6a3	T	C	1: 90,827,880 (GRCm38)	E229G	probably benign	Het
Cyb5r3	A	G	15: 83,154,554 (GRCm38)	F278S	probably damaging	Het
Dhx16	C	T	17: 35,891,086 (GRCm38)	Q1002*	probably null	Het
Dppa4	T	C	16: 48,291,015 (GRCm38)	L121P	probably benign	Het
Dpyd	A	G	3: 118,917,092 (GRCm38)	E383G	probably damaging	Het
Eif4g3	A	G	4: 138,126,589 (GRCm38)	T489A	probably benign	Het
Elovl1	G	T	4: 118,431,635 (GRCm38)	V174L	probably damaging	Het
Elp3	T	C	14: 65,551,402 (GRCm38)	K392E	possibly damaging	Het
Fancd2os	C	A	6: 113,598,024 (GRCm38)	W7L	probably damaging	Het
Fchsd2	A	G	7: 101,110,784 (GRCm38)	T23A	possibly damaging	Het
Gabrp	C	G	11: 33,554,308 (GRCm38)	A336P	possibly damaging	Het
Gcm2	T	A	13: 41,109,911 (GRCm38)	Y15F	possibly damaging	Het
Gpr132	G	A	12: 112,852,796 (GRCm38)	R137C	probably damaging	Het
Herc1	A	G	9: 66,465,435 (GRCm38)	E3091G	probably damaging	Het
Homer1	A	T	13: 93,356,102 (GRCm38)	M184L	probably benign	Het
Izumo1r	T	C	9: 14,900,849 (GRCm38)	E117G	probably damaging	Het
Kcnt1	C	T	2: 25,901,909 (GRCm38)	Q590*	probably null	Het
Lama1	G	T	17: 67,770,987 (GRCm38)	C1139F	probably damaging	Het
Med29	C	T	7: 28,386,814 (GRCm38)	A190T	probably benign	Het
Muc4	T	C	16: 32,750,782 (GRCm38)	V220A	probably benign	Het
Mxra8	G	T	4: 155,842,921 (GRCm38)	V388L	probably benign	Het
Myo5a	T	C	9: 75,144,181 (GRCm38)		probably null	Het
Myrip	A	G	9: 120,461,433 (GRCm38)	Y706C	probably damaging	Het
Nphp4	T	C	4: 152,506,485 (GRCm38)	V313A	probably benign	Het
Oga	A	C	19: 45,776,997 (GRCm38)	S124A	probably benign	Het
Olfm2	T	G	9: 20,668,544 (GRCm38)		probably null	Het
Or10ag52	T	A	2: 87,213,728 (GRCm38)	S279T	probably benign	Het
Or10x4	T	C	1: 174,391,375 (GRCm38)	F102S	probably damaging	Het
Pcdh15	C	T	10: 74,626,788 (GRCm38)	P1398L	probably damaging	Het
Pdpr	A	G	8: 111,114,811 (GRCm38)	E225G	possibly damaging	Het
Pigs	C	A	11: 78,328,769 (GRCm38)		probably null	Het
Pkhd1	T	A	1: 20,588,531 (GRCm38)	T159S	probably damaging	Het
Plk4	A	G	3: 40,813,586 (GRCm38)	T87A	possibly damaging	Het
Plxna4	T	C	6: 32,215,722 (GRCm38)	Y768C	probably damaging	Het
Prl3d3	T	A	13: 27,159,081 (GRCm38)		probably null	Het
Pygb	T	C	2: 150,820,888 (GRCm38)		probably null	Het
Sbno2	A	G	10: 80,058,453 (GRCm38)	L1099P	probably benign	Het
Scaper	T	C	9: 55,807,632 (GRCm38)	K791E	probably damaging	Het
Serping1	T	C	2: 84,771,545 (GRCm38)	T194A	probably damaging	Het
Slc12a9	A	G	5: 137,321,403 (GRCm38)	S617P	possibly damaging	Het
Slk	G	A	19: 47,636,457 (GRCm38)	R1039H	probably damaging	Het
Sntb1	T	A	15: 55,792,139 (GRCm38)	E227V	probably benign	Het
Sostdc1	C	A	12: 36,314,408 (GRCm38)	P39T	probably benign	Het
Spred1	C	T	2: 117,153,005 (GRCm38)	R16*	probably null	Het
Srpk2	A	G	5: 23,518,477 (GRCm38)	I547T	probably damaging	Het
Stt3a	A	G	9: 36,759,314 (GRCm38)	Y54H	probably damaging	Het
Stt3b	A	T	9: 115,266,147 (GRCm38)	L272H	probably damaging	Het
Syne2	T	A	12: 76,108,217 (GRCm38)		probably null	Het
Uso1	A	T	5: 92,198,337 (GRCm38)	E793V	possibly damaging	Het
Usp15	A	T	10: 123,130,987 (GRCm38)	L476*	probably null	Het
Vmn1r189	T	C	13: 22,102,166 (GRCm38)	Y167C	probably damaging	Het
Vmn2r24	A	G	6: 123,786,979 (GRCm38)	T272A	possibly damaging	Het
Vps13a	A	T	19: 16,668,690 (GRCm38)	H1994Q	probably damaging	Het
Zbtb10	T	C	3: 9,265,192 (GRCm38)	S537P	probably damaging	Het
Zbtb12	T	C	17: 34,895,883 (GRCm38)	S215P	possibly damaging	Het
Zfp346	T	C	13: 55,113,102 (GRCm38)	M81T	probably benign	Het
Zfp800	T	C	6: 28,244,513 (GRCm38)	D151G	probably null	Het

Other mutations in Rnf114

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01112:Rnf114	APN	2	167,512,539 (GRCm38)	missense	probably damaging	1.00
IGL01942:Rnf114	APN	2	167,512,626 (GRCm38)	critical splice donor site	probably null
R0352:Rnf114	UTSW	2	167,511,216 (GRCm38)	missense	probably benign
R1553:Rnf114	UTSW	2	167,512,602 (GRCm38)	missense	possibly damaging	0.50
R2118:Rnf114	UTSW	2	167,510,883 (GRCm38)	missense	probably damaging	1.00
R6251:Rnf114	UTSW	2	167,514,729 (GRCm38)	makesense	probably null
R6477:Rnf114	UTSW	2	167,503,488 (GRCm38)	missense	probably benign	0.00
R7529:Rnf114	UTSW	2	167,507,094 (GRCm38)	missense	possibly damaging	0.80
R7733:Rnf114	UTSW	2	167,512,518 (GRCm38)	missense	probably damaging	1.00
R8905:Rnf114	UTSW	2	167,511,214 (GRCm38)	missense	probably benign
R9602:Rnf114	UTSW	2	167,511,242 (GRCm38)	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- ATAAACAGCAGCCTGGCTCC -3'
(R):5'- GCTTGCAAATCAGACGCACTG -3'

Sequencing Primer
(F):5'- TCTGCTAGCACAGTCAGGAGTG -3'
(R):5'- GACGCACTGACATGAACAAC -3'

Posted On

2016-11-09