Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00234:Rc3h2'

2506

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Rc3h2

Ensembl Gene

ENSMUSG00000075376

Gene Name

ring finger and CCCH-type zinc finger domains 2

Synonyms

D930043C02Rik, Mnab, 2900024N03Rik, Rnf164, 9430019J22Rik

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL00234

Quality Score

Status

Chromosome

Chromosomal Location

37260081-37312915 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 37279759 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 490 (V490A)

Ref Sequence

ENSEMBL: ENSMUSP00000108558 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000100143] [ENSMUST00000112934] [ENSMUST00000112936] [ENSMUST00000125619]

AlphaFold

P0C090

Predicted Effect

possibly damaging
Transcript: ENSMUST00000100143
AA Change: V490A

PolyPhen 2 Score 0.588 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000097721
Gene: ENSMUSG00000075376
AA Change: V490A

Domain	Start	End	E-Value	Type
RING	14	53	2.87e-5	SMART
low complexity region	198	209	N/A	INTRINSIC
ZnF_C3H1	410	437	1.58e-3	SMART
low complexity region	609	633	N/A	INTRINSIC
low complexity region	668	688	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000112934
AA Change: V490A

PolyPhen 2 Score 0.588 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000108556
Gene: ENSMUSG00000075376
AA Change: V490A

Domain	Start	End	E-Value	Type
RING	14	53	2.87e-5	SMART
low complexity region	198	209	N/A	INTRINSIC
ZnF_C3H1	410	437	1.58e-3	SMART
low complexity region	609	633	N/A	INTRINSIC
low complexity region	668	688	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000112936
AA Change: V490A

PolyPhen 2 Score 0.588 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000108558
Gene: ENSMUSG00000075376
AA Change: V490A

Domain	Start	End	E-Value	Type
RING	14	53	2.87e-5	SMART
low complexity region	198	209	N/A	INTRINSIC
ZnF_C3H1	410	437	1.58e-3	SMART
low complexity region	609	633	N/A	INTRINSIC
low complexity region	668	688	N/A	INTRINSIC

Predicted Effect

silent
Transcript: ENSMUST00000125619

SMART Domains

Protein: ENSMUSP00000145082
Gene: ENSMUSG00000075376

Domain	Start	End	E-Value	Type
RING	14	53	1.4e-7	SMART
low complexity region	198	209	N/A	INTRINSIC
ZnF_C3H1	410	437	6.9e-6	SMART
low complexity region	455	466	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000205124

Coding Region Coverage

Validation Efficiency

MGI Phenotype

PHENOTYPE: Homozygotes for a knock-out allele are viable and healthy but show increased TNF production by macrophages in response to LPS. Homozygotes for a different knock-out allele show postnatal lethality, decreased body size and weight, and an immature lung phenotype with decreased alveolar expansion. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 25 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Angptl4	T	C	17: 34,000,242 (GRCm39)	N42S	probably damaging	Het
Apoc4	A	T	7: 19,412,665 (GRCm39)	S27T	probably benign	Het
Atp13a3	T	A	16: 30,170,097 (GRCm39)	Q363L	probably damaging	Het
Cfap69	A	G	5: 5,667,295 (GRCm39)	Y417H	probably benign	Het
Cry1	A	G	10: 84,982,698 (GRCm39)	S243P	probably benign	Het
Epb41l2	A	G	10: 25,377,734 (GRCm39)	T116A	probably damaging	Het
Foxb1	A	G	9: 69,667,480 (GRCm39)	S17P	probably damaging	Het
Glb1l3	A	T	9: 26,764,967 (GRCm39)	L148H	probably damaging	Het
Hnrnpk	T	C	13: 58,543,111 (GRCm39)		probably benign	Het
Icam5	G	A	9: 20,948,091 (GRCm39)		probably null	Het
Lats1	A	G	10: 7,567,330 (GRCm39)	I34V	probably damaging	Het
Lipc	A	T	9: 70,727,719 (GRCm39)	Y43N	possibly damaging	Het
Maml3	A	G	3: 51,598,125 (GRCm39)	I207T	probably benign	Het
Nfatc2	A	T	2: 168,346,810 (GRCm39)	S761R	probably damaging	Het
Nubp1	G	A	16: 10,240,703 (GRCm39)	G280S	probably damaging	Het
Or4d2	T	G	11: 87,784,191 (GRCm39)	R186S	possibly damaging	Het
Pabpc4	A	G	4: 123,180,497 (GRCm39)	N73S	probably damaging	Het
Pcsk6	G	A	7: 65,577,568 (GRCm39)	C163Y	probably damaging	Het
Phf3	G	A	1: 30,850,928 (GRCm39)	T1142M	probably damaging	Het
Prune2	T	A	19: 17,145,708 (GRCm39)		probably null	Het
Psmd7	A	G	8: 108,312,342 (GRCm39)	V85A	probably damaging	Het
Sh3tc1	A	C	5: 35,868,301 (GRCm39)	S388A	probably damaging	Het
Trank1	T	C	9: 111,221,677 (GRCm39)	F2805L	probably damaging	Het
Yars2	T	C	16: 16,121,185 (GRCm39)	L113P	probably damaging	Het
Zfp82	G	A	7: 29,765,755 (GRCm39)	S16L	probably damaging	Het

Other mutations in Rc3h2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00944:Rc3h2	APN	2	37,288,250 (GRCm39)	splice site	probably benign
IGL01065:Rc3h2	APN	2	37,267,856 (GRCm39)	splice site	probably benign
IGL01966:Rc3h2	APN	2	37,272,789 (GRCm39)	splice site	probably benign
IGL02123:Rc3h2	APN	2	37,288,265 (GRCm39)	missense	probably damaging	1.00
IGL02174:Rc3h2	APN	2	37,301,237 (GRCm39)	missense	probably benign	0.11
IGL02448:Rc3h2	APN	2	37,279,817 (GRCm39)	missense	probably benign	0.08
IGL02539:Rc3h2	APN	2	37,279,727 (GRCm39)	missense	probably benign	0.09
IGL02698:Rc3h2	APN	2	37,295,312 (GRCm39)	missense	probably damaging	0.99
IGL02731:Rc3h2	APN	2	37,272,823 (GRCm39)	missense	probably benign	0.00
IGL02958:Rc3h2	APN	2	37,304,712 (GRCm39)	missense	probably damaging	1.00
IGL02959:Rc3h2	APN	2	37,295,366 (GRCm39)	missense	probably damaging	1.00
PIT4468001:Rc3h2	UTSW	2	37,289,651 (GRCm39)	missense	probably damaging	1.00
R0309:Rc3h2	UTSW	2	37,269,020 (GRCm39)	splice site	probably benign
R0488:Rc3h2	UTSW	2	37,279,600 (GRCm39)	missense	probably damaging	0.99
R0506:Rc3h2	UTSW	2	37,266,671 (GRCm39)	critical splice donor site	probably null
R0612:Rc3h2	UTSW	2	37,301,227 (GRCm39)	missense	possibly damaging	0.77
R0628:Rc3h2	UTSW	2	37,272,064 (GRCm39)	splice site	probably benign
R0647:Rc3h2	UTSW	2	37,299,542 (GRCm39)	missense	probably damaging	1.00
R0680:Rc3h2	UTSW	2	37,289,847 (GRCm39)	missense	probably damaging	0.97
R0738:Rc3h2	UTSW	2	37,295,386 (GRCm39)	missense	probably damaging	1.00
R2005:Rc3h2	UTSW	2	37,279,765 (GRCm39)	nonsense	probably null
R2105:Rc3h2	UTSW	2	37,289,636 (GRCm39)	missense	possibly damaging	0.89
R2133:Rc3h2	UTSW	2	37,268,928 (GRCm39)	missense	probably benign	0.12
R2373:Rc3h2	UTSW	2	37,269,013 (GRCm39)	missense	possibly damaging	0.94
R2414:Rc3h2	UTSW	2	37,289,831 (GRCm39)	critical splice donor site	probably null
R2850:Rc3h2	UTSW	2	37,267,427 (GRCm39)	missense	probably benign
R2913:Rc3h2	UTSW	2	37,268,971 (GRCm39)	missense	possibly damaging	0.89
R2932:Rc3h2	UTSW	2	37,268,371 (GRCm39)	missense	probably benign	0.10
R4441:Rc3h2	UTSW	2	37,304,526 (GRCm39)	critical splice donor site	probably null
R4932:Rc3h2	UTSW	2	37,279,844 (GRCm39)	missense	possibly damaging	0.77
R5114:Rc3h2	UTSW	2	37,288,373 (GRCm39)	splice site	probably null
R5169:Rc3h2	UTSW	2	37,295,324 (GRCm39)	missense	probably damaging	1.00
R5360:Rc3h2	UTSW	2	37,279,867 (GRCm39)	missense	possibly damaging	0.59
R5477:Rc3h2	UTSW	2	37,289,642 (GRCm39)	missense	possibly damaging	0.94
R5553:Rc3h2	UTSW	2	37,288,323 (GRCm39)	nonsense	probably null
R5776:Rc3h2	UTSW	2	37,268,325 (GRCm39)	missense	possibly damaging	0.59
R5842:Rc3h2	UTSW	2	37,268,383 (GRCm39)	missense	possibly damaging	0.77
R5935:Rc3h2	UTSW	2	37,304,745 (GRCm39)	frame shift	probably null
R6060:Rc3h2	UTSW	2	37,289,612 (GRCm39)	missense	possibly damaging	0.77
R6112:Rc3h2	UTSW	2	37,268,899 (GRCm39)	missense	possibly damaging	0.59
R6172:Rc3h2	UTSW	2	37,304,745 (GRCm39)	frame shift	probably null
R6173:Rc3h2	UTSW	2	37,304,745 (GRCm39)	frame shift	probably null
R6177:Rc3h2	UTSW	2	37,279,658 (GRCm39)	missense	probably benign	0.02
R6455:Rc3h2	UTSW	2	37,299,482 (GRCm39)	missense	probably damaging	1.00
R6457:Rc3h2	UTSW	2	37,301,151 (GRCm39)	critical splice donor site	probably null
R6467:Rc3h2	UTSW	2	37,272,028 (GRCm39)	missense	probably damaging	0.97
R6647:Rc3h2	UTSW	2	37,272,956 (GRCm39)	nonsense	probably null
R6694:Rc3h2	UTSW	2	37,290,555 (GRCm39)	missense	probably damaging	1.00
R6695:Rc3h2	UTSW	2	37,304,673 (GRCm39)	missense	possibly damaging	0.88
R7054:Rc3h2	UTSW	2	37,265,258 (GRCm39)	missense	probably benign	0.07
R7159:Rc3h2	UTSW	2	37,299,659 (GRCm39)	missense	probably benign	0.39
R7162:Rc3h2	UTSW	2	37,299,617 (GRCm39)	missense	possibly damaging	0.59
R7640:Rc3h2	UTSW	2	37,267,861 (GRCm39)	critical splice donor site	probably null
R7676:Rc3h2	UTSW	2	37,295,344 (GRCm39)	missense	possibly damaging	0.95
R8209:Rc3h2	UTSW	2	37,267,001 (GRCm39)	missense	possibly damaging	0.77
R8226:Rc3h2	UTSW	2	37,267,001 (GRCm39)	missense	possibly damaging	0.77
R8324:Rc3h2	UTSW	2	37,290,738 (GRCm39)	missense	possibly damaging	0.77
R8528:Rc3h2	UTSW	2	37,272,811 (GRCm39)	missense	probably benign	0.05
R8836:Rc3h2	UTSW	2	37,267,941 (GRCm39)	missense	possibly damaging	0.59
R8957:Rc3h2	UTSW	2	37,289,660 (GRCm39)	missense	possibly damaging	0.59
R9053:Rc3h2	UTSW	2	37,289,628 (GRCm39)	missense	possibly damaging	0.95
R9131:Rc3h2	UTSW	2	37,304,702 (GRCm39)	missense	possibly damaging	0.94
R9178:Rc3h2	UTSW	2	37,295,264 (GRCm39)	missense	possibly damaging	0.77
R9437:Rc3h2	UTSW	2	37,272,841 (GRCm39)	missense	possibly damaging	0.94
X0013:Rc3h2	UTSW	2	37,279,798 (GRCm39)	missense	possibly damaging	0.60
Z1187:Rc3h2	UTSW	2	37,289,612 (GRCm39)	missense	possibly damaging	0.77
Z1188:Rc3h2	UTSW	2	37,289,612 (GRCm39)	missense	possibly damaging	0.77
Z1189:Rc3h2	UTSW	2	37,299,568 (GRCm39)	missense	possibly damaging	0.94
Z1192:Rc3h2	UTSW	2	37,299,568 (GRCm39)	missense	possibly damaging	0.94
Z1192:Rc3h2	UTSW	2	37,289,612 (GRCm39)	missense	possibly damaging	0.77

Posted On

2011-12-09