Mutagenetix > Incidental Mutation

Incidental Mutation 'R0036:Rnf224'

201473

Institutional Source

Beutler Lab

Gene Symbol

Rnf224

Ensembl Gene

ENSMUSG00000089953

Gene Name

ring finger protein 224

Synonyms

Gm757, LOC329360

MMRRC Submission

038330-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.087) question?

Stock #

R0036 (G1)

Quality Score

Status

Validated

Chromosome

Chromosomal Location

25124488-25126799 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 25126143 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Glutamine at position 70 (R70Q)

Ref Sequence

ENSEMBL: ENSMUSP00000145127 (fasta)

Gene Model

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

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: R70Q

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

SMART Domains

Protein: ENSMUSP00000088868
Gene: ENSMUSG00000089953
AA Change: R70Q

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: R70Q

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

SMART Domains

Protein: ENSMUSP00000145470
Gene: ENSMUSG00000089953
AA Change: R70Q

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

probably damaging
Transcript: ENSMUST00000205192
AA Change: R70Q

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

SMART Domains

Protein: ENSMUSP00000145127
Gene: ENSMUSG00000089953
AA Change: R70Q

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000152997

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000155420

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000144884

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000142095

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

Meta Mutation Damage Score

0.6467

Coding Region Coverage

1x: 99.3%
3x: 98.9%
10x: 97.7%
20x: 96.0%

Validation Efficiency

97% (33/34)

Allele List at MGI

Other mutations in this stock

Total: 15 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ctsq	C	T	13: 61,185,485 (GRCm39)		probably null	Het
Egln3	A	T	12: 54,232,378 (GRCm39)	D142E	possibly damaging	Het
Fam120a	G	A	13: 49,042,740 (GRCm39)		probably benign	Het
Hspg2	A	G	4: 137,270,160 (GRCm39)	T2373A	probably damaging	Het
Pcyox1l	G	T	18: 61,830,492 (GRCm39)	T460K	probably benign	Het
Phrf1	T	C	7: 140,841,693 (GRCm39)	M1435T	probably damaging	Het
Rnf157	A	G	11: 116,287,128 (GRCm39)	Y32H	probably damaging	Het
Rusc2	C	A	4: 43,424,009 (GRCm39)	D1054E	probably damaging	Het
S100a16	T	A	3: 90,449,763 (GRCm39)	M82K	probably benign	Het
Serpina3j	A	G	12: 104,283,606 (GRCm39)	T235A	probably benign	Het
Sgo2a	T	C	1: 58,054,787 (GRCm39)	S324P	probably benign	Het
Slf1	G	T	13: 77,249,070 (GRCm39)	Q373K	probably benign	Het
Son	T	A	16: 91,457,054 (GRCm39)		probably benign	Het
Tril	C	T	6: 53,795,618 (GRCm39)	A535T	probably benign	Het
Vipr1	G	A	9: 121,490,049 (GRCm39)	D141N	probably benign	Het

Other mutations in Rnf224

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01289:Rnf224	APN	2	25,126,259 (GRCm39)	missense	possibly damaging	0.51
IGL02236:Rnf224	APN	2	25,126,260 (GRCm39)	missense	probably damaging	0.96
R0240:Rnf224	UTSW	2	25,126,219 (GRCm39)	missense	probably damaging	0.98
R0240:Rnf224	UTSW	2	25,126,219 (GRCm39)	missense	probably damaging	0.98
R1528:Rnf224	UTSW	2	25,126,110 (GRCm39)	missense	probably benign	0.04
R5739:Rnf224	UTSW	2	25,126,012 (GRCm39)	missense	probably benign
R6369:Rnf224	UTSW	2	25,125,954 (GRCm39)	missense	probably damaging	1.00
R9567:Rnf224	UTSW	2	25,126,354 (GRCm39)	start gained	probably benign
R9621:Rnf224	UTSW	2	25,126,200 (GRCm39)	missense	probably benign	0.09
R9674:Rnf224	UTSW	2	25,126,330 (GRCm39)	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- TGGCTCGAAATGTTCCTGGTCAAG -3'
(R):5'- ACGGAATGACTGCATCATCTGCTAC -3'

Sequencing Primer
(F):5'- TTCCTGGTCAAGGTGACAC -3'
(R):5'- ATCATCTGCTACTCTGCCTATGAC -3'

Posted On

2014-06-13