Mutagenetix > Incidental Mutation

Incidental Mutation 'R6369:Rnf224'

512834

Institutional Source

Beutler Lab

Gene Symbol

Rnf224

Ensembl Gene

ENSMUSG00000089953

Gene Name

ring finger protein 224

Synonyms

Gm757, LOC329360

MMRRC Submission

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.065) question?

Stock #

R6369 (G1)

Quality Score

223.009

Status

Validated

Chromosome

Chromosomal Location

25234476-25236787 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 25235942 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Serine at position 133 (F133S)

Ref Sequence

ENSEMBL: ENSMUSP00000145127 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000006638] [ENSMUST00000043379] [ENSMUST00000091318] [ENSMUST00000114356] [ENSMUST00000186719] [ENSMUST00000205192]

AlphaFold

Q3UIW8

Predicted Effect

probably benign
Transcript: ENSMUST00000006638

SMART Domains

Protein: ENSMUSP00000006638
Gene: ENSMUSG00000006469

Domain	Start	End	E-Value	Type
Pfam:Na_Pi_cotrans	84	231	1.8e-25	PFAM
low complexity region	254	269	N/A	INTRINSIC
Pfam:Na_Pi_cotrans	337	538	1.1e-16	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000043379

SMART Domains

Protein: ENSMUSP00000045363
Gene: ENSMUSG00000036731

Domain	Start	End	E-Value	Type
Pfam:DUF2477	1	141	2.2e-92	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000091318
AA Change: F133S

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000088868
Gene: ENSMUSG00000089953
AA Change: F133S

Domain	Start	End	E-Value	Type
RING	23	69	8.23e-6	SMART
low complexity region	137	148	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000091318
AA Change: F133S

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000145470
Gene: ENSMUSG00000089953
AA Change: F133S

Domain	Start	End	E-Value	Type
RING	23	69	8.23e-6	SMART
low complexity region	137	148	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000114356

SMART Domains

Protein: ENSMUSP00000109996
Gene: ENSMUSG00000036731

Domain	Start	End	E-Value	Type
Pfam:DUF2477	1	141	2.3e-85	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000124146

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000137482

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000142095

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000144884

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000152997

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000155420

Predicted Effect

probably benign
Transcript: ENSMUST00000186719

SMART Domains

Protein: ENSMUSP00000140416
Gene: ENSMUSG00000036731

Domain	Start	End	E-Value	Type
Pfam:DUF2477	1	141	2.2e-92	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000205192
AA Change: F133S

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000145127
Gene: ENSMUSG00000089953
AA Change: F133S

Domain	Start	End	E-Value	Type
RING	23	69	8.23e-6	SMART
low complexity region	137	148	N/A	INTRINSIC

Meta Mutation Damage Score

0.2000

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.1%
20x: 94.4%

Validation Efficiency

98% (54/55)

Allele List at MGI

Other mutations in this stock

Total: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Afdn	C	T	17: 13,835,343	R571*	probably null	Het
Asb18	A	T	1: 90,014,471	I36N	probably damaging	Het
Ascc3	G	A	10: 50,699,985	G779S	probably damaging	Het
Atl2	T	C	17: 79,854,555	Q205R	probably damaging	Het
Axdnd1	A	G	1: 156,392,745	I235T	probably damaging	Het
Bri3bp	A	G	5: 125,454,701	N237S	probably damaging	Het
Ccdc191	A	G	16: 43,915,485	N256S	probably benign	Het
Cchcr1	T	C	17: 35,528,176	I474T	probably damaging	Het
Cd209c	T	C	8: 3,944,984	Y60C	probably damaging	Het
Cd300c	C	A	11: 114,957,555	D171Y	probably damaging	Het
Crb1	C	T	1: 139,237,462	V975M	probably damaging	Het
Csmd1	C	T	8: 17,535,004		probably benign	Het
Ctnna2	A	G	6: 76,980,695	S524P	possibly damaging	Het
Eno1	T	C	4: 150,239,568		probably null	Het
Ero1l	T	C	14: 45,299,958	I170M	probably damaging	Het
Fam186a	A	G	15: 99,947,331	M344T	unknown	Het
Frem1	A	T	4: 82,913,792		probably null	Het
Gjb5	G	T	4: 127,355,930	D140E	possibly damaging	Het
Gm11595	G	A	11: 99,772,555	R100C	unknown	Het
Hk2	G	T	6: 82,736,753	S449R	probably damaging	Het
Hs3st3a1	A	T	11: 64,520,601	I322F	probably benign	Het
Itga1	T	C	13: 114,965,660	I1145V	probably damaging	Het
Kcp	A	G	6: 29,484,694	L1295S	probably damaging	Het
Macf1	T	C	4: 123,410,562	D49G	possibly damaging	Het
Mef2b	T	A	8: 70,165,559	D96E	probably benign	Het
Megf10	A	T	18: 57,261,187	D461V	probably benign	Het
Myom1	T	C	17: 71,101,076	S1104P	probably damaging	Het
Nab1	A	G	1: 52,490,222	L172P	probably damaging	Het
Olfr123	T	G	17: 37,795,496	D17E	probably benign	Het
Pate1	A	G	9: 35,687,028	V18A	probably benign	Het
Pink1	T	C	4: 138,320,734		probably null	Het
Pnpla1	T	A	17: 28,878,481	I207N	probably damaging	Het
Ppp1r12b	T	C	1: 134,886,542	E341G	possibly damaging	Het
Ppp1r21	C	A	17: 88,582,412		probably null	Het
Rad52	A	G	6: 119,914,207	E76G	unknown	Het
Rad54l	A	G	4: 116,111,189		probably null	Het
Rasgrf2	T	C	13: 92,131,446	M17V	probably benign	Het
Rbm42	A	G	7: 30,641,313	M411T	unknown	Het
Reln	A	G	5: 22,051,361	I495T	probably benign	Het
Rrm1	C	A	7: 102,446,702	H87Q	probably damaging	Het
Sec14l2	T	C	11: 4,103,962	D235G	possibly damaging	Het
Serpinb3d	G	T	1: 107,080,753	N127K	probably benign	Het
Skint7	A	T	4: 111,980,293	E89D	probably benign	Het
Slc22a5	T	G	11: 53,891,370	N57T	probably damaging	Het
Smarcd3	A	T	5: 24,594,984	F263I	probably damaging	Het
Sncaip	A	G	18: 52,868,604	I66V	probably damaging	Het
Syngr1	A	C	15: 80,115,590		probably benign	Het
Tbc1d2	A	G	4: 46,614,420	Y554H	probably benign	Het
Tmem198	T	C	1: 75,479,743	V44A	probably benign	Het
Trappc11	T	C	8: 47,512,285		probably null	Het
Uox	C	T	3: 146,624,577	R163*	probably null	Het
Vmn2r111	C	T	17: 22,548,602	C638Y	probably damaging	Het
Washc4	A	G	10: 83,574,444	Y632C	probably damaging	Het
Zfp212	T	C	6: 47,930,897	V270A	probably benign	Het
Zfp92	G	A	X: 73,421,968	R189H	possibly damaging	Homo

Other mutations in Rnf224

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01289:Rnf224	APN	2	25236247	missense	possibly damaging	0.51
IGL02236:Rnf224	APN	2	25236248	missense	probably damaging	0.96
R0036:Rnf224	UTSW	2	25236131	missense	probably damaging	1.00
R0240:Rnf224	UTSW	2	25236207	missense	probably damaging	0.98
R0240:Rnf224	UTSW	2	25236207	missense	probably damaging	0.98
R1528:Rnf224	UTSW	2	25236098	missense	probably benign	0.04
R5739:Rnf224	UTSW	2	25236000	missense	probably benign
R9567:Rnf224	UTSW	2	25236342	start gained	probably benign

Predicted Primers

PCR Primer
(F):5'- ATAGGAGAGTTGTCTTGCTAGC -3'
(R):5'- ACAACACTGGATCCCCTGTC -3'

Sequencing Primer
(F):5'- TCTTGCTAGCAGGCTGTTC -3'
(R):5'- TGCCGACAAAGTACCCCTGTG -3'

Posted On

2018-04-27