Mutagenetix > Incidental Mutation

Incidental Mutation 'R0022:Rnf157'

64803

Institutional Source

Beutler Lab

Gene Symbol

Rnf157

Ensembl Gene

ENSMUSG00000052949

Gene Name

ring finger protein 157

Synonyms

A130073L17Rik, 2610036E23Rik

MMRRC Submission

038317-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0022 (G1)

Quality Score

Status

Validated

Chromosome

Chromosomal Location

116227179-116303858 bp(-) (GRCm39)

Type of Mutation

unclassified

DNA Base Change (assembly)

A to T at 116240276 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Gene Model

predicted gene model for transcript(s): [ENSMUST00000100202] [ENSMUST00000106398]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000100202

SMART Domains

Protein: ENSMUSP00000097776
Gene: ENSMUSG00000052949

Domain	Start	End	E-Value	Type
RING	277	315	5.64e-4	SMART
low complexity region	345	358	N/A	INTRINSIC
low complexity region	427	444	N/A	INTRINSIC
low complexity region	446	457	N/A	INTRINSIC
low complexity region	552	562	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000106398

SMART Domains

Protein: ENSMUSP00000102006
Gene: ENSMUSG00000052949

Domain	Start	End	E-Value	Type
RING	277	315	5.64e-4	SMART
low complexity region	345	358	N/A	INTRINSIC
low complexity region	427	444	N/A	INTRINSIC
low complexity region	446	457	N/A	INTRINSIC
low complexity region	552	562	N/A	INTRINSIC
low complexity region	563	574	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000137264

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000141229

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000148763

Predicted Effect

probably benign
Transcript: ENSMUST00000149147

SMART Domains

Protein: ENSMUSP00000122483
Gene: ENSMUSG00000052949

Domain	Start	End	E-Value	Type
RING	102	140	5.64e-4	SMART
low complexity region	170	183	N/A	INTRINSIC
low complexity region	252	269	N/A	INTRINSIC
low complexity region	271	282	N/A	INTRINSIC
low complexity region	377	387	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000150775

SMART Domains

Protein: ENSMUSP00000123289
Gene: ENSMUSG00000052949

Domain	Start	End	E-Value	Type
low complexity region	65	75	N/A	INTRINSIC

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.0%
20x: 93.8%

Validation Efficiency

100% (68/68)

MGI Phenotype

PHENOTYPE: The gene supports neuronal survival and dendrite growth and maintenance and knockdown with siRNA induces apoptosis in neuronal tissues. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Agl	A	T	3: 116,587,485 (GRCm39)		probably null	Het
Arhgap29	G	A	3: 121,782,586 (GRCm39)	V91I	possibly damaging	Het
Aste1	T	A	9: 105,273,823 (GRCm39)	L21*	probably null	Het
Bpifb5	A	T	2: 154,072,268 (GRCm39)	D325V	probably damaging	Het
Btbd10	G	A	7: 112,924,988 (GRCm39)	Q287*	probably null	Het
Cdc20	T	A	4: 118,292,686 (GRCm39)	H354L	probably damaging	Het
Cdhr3	G	A	12: 33,132,263 (GRCm39)	T120I	probably damaging	Het
Col5a2	G	A	1: 45,422,843 (GRCm39)	R1125*	probably null	Het
Col9a3	A	G	2: 180,261,549 (GRCm39)	D613G	probably damaging	Het
Coro7	C	T	16: 4,451,168 (GRCm39)	R507H	probably benign	Het
Cracdl	C	T	1: 37,667,326 (GRCm39)	R240Q	probably damaging	Het
Crebbp	A	T	16: 3,903,092 (GRCm39)	V2049E	probably damaging	Het
Cryga	T	C	1: 65,142,382 (GRCm39)	I4V	probably damaging	Het
D930020B18Rik	A	G	10: 121,507,675 (GRCm39)	T138A	probably damaging	Het
Dclre1b	G	T	3: 103,710,464 (GRCm39)	H482Q	probably benign	Het
Dpy19l2	A	G	9: 24,607,420 (GRCm39)	S14P	probably benign	Het
Elavl3	C	A	9: 21,948,167 (GRCm39)		probably benign	Het
Ephb6	T	C	6: 41,591,503 (GRCm39)	V220A	probably damaging	Het
Exoc7	A	T	11: 116,188,408 (GRCm39)	I297N	possibly damaging	Het
Gdpd4	A	T	7: 97,632,082 (GRCm39)	N332Y	probably damaging	Het
Ggct	C	A	6: 54,962,887 (GRCm39)	E175*	probably null	Het
Gm5316	T	C	6: 122,877,354 (GRCm39)		noncoding transcript	Het
Hoxa7	T	C	6: 52,194,363 (GRCm39)	N8S	probably damaging	Het
Ifi208	A	G	1: 173,510,612 (GRCm39)	T256A	possibly damaging	Het
Il12rb2	A	G	6: 67,275,903 (GRCm39)	F630S	probably damaging	Het
Kit	A	G	5: 75,783,657 (GRCm39)	N378S	probably benign	Het
Lmntd1	T	A	6: 145,375,716 (GRCm39)	Y74F	probably benign	Het
Lrp1b	A	T	2: 40,888,050 (GRCm39)		probably benign	Het
Ltbp1	T	A	17: 75,671,355 (GRCm39)	V1194D	probably damaging	Het
Mc5r	T	G	18: 68,471,853 (GRCm39)	S71A	probably benign	Het
Mcm7	T	C	5: 138,162,981 (GRCm39)	*390W	probably null	Het
Myo18a	T	C	11: 77,734,059 (GRCm39)		probably null	Het
Naa25	C	A	5: 121,556,039 (GRCm39)	L276M	probably damaging	Het
Nlrp1a	T	G	11: 71,014,207 (GRCm39)	T348P	probably damaging	Het
Nlrp1b	T	G	11: 71,052,755 (GRCm39)	K888T	possibly damaging	Het
Or4f53	A	G	2: 111,087,994 (GRCm39)	Y178C	probably benign	Het
Pabpc6	A	T	17: 9,888,145 (GRCm39)	N135K	probably benign	Het
Pdzd2	G	A	15: 12,371,691 (GRCm39)	A2568V	possibly damaging	Het
Pik3r2	A	G	8: 71,223,545 (GRCm39)	F346S	probably damaging	Het
Pkd1	T	C	17: 24,813,793 (GRCm39)	W4086R	probably damaging	Het
Plekhb2	G	A	1: 34,905,320 (GRCm39)		probably benign	Het
Plxnb2	A	G	15: 89,047,479 (GRCm39)		probably null	Het
Pmfbp1	C	T	8: 110,252,039 (GRCm39)	R395W	probably damaging	Het
Pnldc1	A	G	17: 13,109,006 (GRCm39)	Y497H	probably damaging	Het
Ppp1ca	T	G	19: 4,244,580 (GRCm39)	V213G	possibly damaging	Het
Rapgef2	G	A	3: 78,995,207 (GRCm39)	R814C	probably damaging	Het
Relch	T	A	1: 105,619,627 (GRCm39)		probably benign	Het
Rnasel	A	T	1: 153,636,521 (GRCm39)	I634F	probably damaging	Het
Ryr3	A	G	2: 112,471,011 (GRCm39)	S4567P	probably damaging	Het
Smcr8	T	A	11: 60,671,185 (GRCm39)	W778R	probably damaging	Het
Stat1	T	A	1: 52,179,789 (GRCm39)	L333Q	probably damaging	Het
Strc	A	G	2: 121,198,874 (GRCm39)	L1391P	probably damaging	Het
Tek	G	A	4: 94,725,509 (GRCm39)	V592M	probably damaging	Het
Top1	A	C	2: 160,544,719 (GRCm39)	K278N	possibly damaging	Het
Utrn	C	T	10: 12,585,700 (GRCm39)		probably benign	Het
Wdr7	T	C	18: 63,910,705 (GRCm39)	I699T	probably damaging	Het
Zfp30	A	G	7: 29,491,860 (GRCm39)	E119G	possibly damaging	Het

Other mutations in Rnf157

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00487:Rnf157	APN	11	116,253,181 (GRCm39)	missense	probably benign	0.20
IGL01146:Rnf157	APN	11	116,240,912 (GRCm39)	missense	probably benign	0.00
IGL01955:Rnf157	APN	11	116,250,722 (GRCm39)	missense	probably damaging	0.96
IGL02010:Rnf157	APN	11	116,287,052 (GRCm39)	missense	probably damaging	1.00
IGL02194:Rnf157	APN	11	116,237,858 (GRCm39)	critical splice donor site	probably null
IGL03092:Rnf157	APN	11	116,238,795 (GRCm39)	critical splice acceptor site	probably null
PIT4362001:Rnf157	UTSW	11	116,251,143 (GRCm39)	missense	probably damaging	1.00
R0022:Rnf157	UTSW	11	116,240,276 (GRCm39)	unclassified	probably benign
R0036:Rnf157	UTSW	11	116,287,128 (GRCm39)	missense	probably damaging	1.00
R0164:Rnf157	UTSW	11	116,245,636 (GRCm39)	splice site	probably benign
R1476:Rnf157	UTSW	11	116,245,585 (GRCm39)	missense	probably damaging	1.00
R1509:Rnf157	UTSW	11	116,237,921 (GRCm39)	missense	probably benign
R1544:Rnf157	UTSW	11	116,245,188 (GRCm39)	splice site	probably null
R1654:Rnf157	UTSW	11	116,249,541 (GRCm39)	missense	probably damaging	1.00
R1820:Rnf157	UTSW	11	116,245,477 (GRCm39)	missense	probably damaging	1.00
R2133:Rnf157	UTSW	11	116,249,520 (GRCm39)	missense	possibly damaging	0.93
R4017:Rnf157	UTSW	11	116,250,067 (GRCm39)	critical splice donor site	probably null
R4590:Rnf157	UTSW	11	116,250,098 (GRCm39)	missense	probably damaging	1.00
R4872:Rnf157	UTSW	11	116,246,298 (GRCm39)	missense	possibly damaging	0.93
R4891:Rnf157	UTSW	11	116,249,496 (GRCm39)	missense	probably damaging	1.00
R5608:Rnf157	UTSW	11	116,287,146 (GRCm39)	splice site	probably null
R5870:Rnf157	UTSW	11	116,237,900 (GRCm39)	missense	probably benign
R7171:Rnf157	UTSW	11	116,253,199 (GRCm39)	missense	possibly damaging	0.83
R7376:Rnf157	UTSW	11	116,251,192 (GRCm39)	missense	probably benign	0.35
R8178:Rnf157	UTSW	11	116,238,307 (GRCm39)	missense	possibly damaging	0.71
R8356:Rnf157	UTSW	11	116,240,246 (GRCm39)	missense	probably benign	0.11
R8456:Rnf157	UTSW	11	116,240,246 (GRCm39)	missense	probably benign	0.11
R8714:Rnf157	UTSW	11	116,237,891 (GRCm39)	missense	probably benign	0.00
R9312:Rnf157	UTSW	11	116,240,158 (GRCm39)	critical splice donor site	probably null
R9313:Rnf157	UTSW	11	116,250,718 (GRCm39)	missense	probably damaging	0.99
R9579:Rnf157	UTSW	11	116,240,822 (GRCm39)	missense	probably benign
R9641:Rnf157	UTSW	11	116,303,576 (GRCm39)	missense	probably benign	0.12
X0020:Rnf157	UTSW	11	116,251,134 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AACGGCATCCCAGTTAGACACGAG -3'
(R):5'- CTGTGGCAAAAGAGGGTATCTCAGG -3'

Sequencing Primer
(F):5'- TGTAAGGCACTGCAAGGTCTC -3'
(R):5'- GTATCTCAGGGATCAAGGAACTG -3'

Posted On

2013-08-06