Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01966:Rc3h2'

181553

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 #

IGL01966

Quality Score

Status

Chromosome

Chromosomal Location

37260081-37312915 bp(-) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

A to G at 37272789 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000145082 (fasta)

Gene Model

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

AlphaFold

P0C090

Predicted Effect

probably benign
Transcript: ENSMUST00000100143

SMART Domains

Protein: ENSMUSP00000097721
Gene: ENSMUSG00000075376

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

probably benign
Transcript: ENSMUST00000112934

SMART Domains

Protein: ENSMUSP00000108556
Gene: ENSMUSG00000075376

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

probably benign
Transcript: ENSMUST00000112936

SMART Domains

Protein: ENSMUSP00000108558
Gene: ENSMUSG00000075376

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

probably benign
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: ENSMUST00000143826

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: 34 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1500002C15Rik	A	G	4: 155,818,526 (GRCm39)		probably null	Het
Acer2	T	A	4: 86,835,815 (GRCm39)	*230R	probably null	Het
Adamts12	A	G	15: 11,258,269 (GRCm39)	K527E	probably damaging	Het
Anks1b	C	A	10: 90,730,994 (GRCm39)	R937S	probably damaging	Het
C2cd5	G	T	6: 142,957,767 (GRCm39)	C989*	probably null	Het
Calhm5	T	C	10: 33,972,129 (GRCm39)	H102R	probably benign	Het
Col14a1	A	G	15: 55,312,121 (GRCm39)		probably benign	Het
Cramp1	T	A	17: 25,201,917 (GRCm39)	T522S	probably benign	Het
Cyp2c70	A	T	19: 40,142,016 (GRCm39)		probably benign	Het
Elmod1	T	A	9: 53,828,611 (GRCm39)	I224F	probably benign	Het
Emx2	T	A	19: 59,448,021 (GRCm39)	I24N	possibly damaging	Het
Fga	A	T	3: 82,936,461 (GRCm39)	I86F	probably damaging	Het
Fig4	C	A	10: 41,108,098 (GRCm39)		probably null	Het
Gm10234	T	C	6: 95,299,118 (GRCm39)		probably null	Het
Gm12588	A	T	11: 121,797,561 (GRCm39)	I96N	probably benign	Het
Grm3	A	G	5: 9,561,486 (GRCm39)	I788T	probably damaging	Het
Homer3	A	G	8: 70,742,807 (GRCm39)	K173E	probably damaging	Het
Kansl1l	A	G	1: 66,777,227 (GRCm39)	V635A	probably damaging	Het
Kctd3	C	T	1: 188,724,859 (GRCm39)	G241R	probably damaging	Het
Krt8	G	T	15: 101,906,105 (GRCm39)	S423R	probably benign	Het
Lrrc24	C	A	15: 76,602,511 (GRCm39)	A125S	probably benign	Het
Muc4	T	C	16: 32,570,244 (GRCm39)	S435P	possibly damaging	Het
Nfkb2	G	A	19: 46,298,129 (GRCm39)	G502D	probably benign	Het
Nlrp6	G	A	7: 140,505,103 (GRCm39)	C750Y	probably damaging	Het
Or8b1b	A	T	9: 38,376,225 (GRCm39)	D296V	possibly damaging	Het
Oxsm	T	C	14: 16,242,520 (GRCm38)	N83S	probably benign	Het
Paqr3	A	G	5: 97,247,502 (GRCm39)	L202P	probably benign	Het
Pcdh10	T	A	3: 45,334,733 (GRCm39)	L349Q	probably benign	Het
Ptdss2	A	G	7: 140,715,304 (GRCm39)	T29A	possibly damaging	Het
Rbbp8nl	G	A	2: 179,922,782 (GRCm39)		probably benign	Het
Ric1	A	T	19: 29,572,963 (GRCm39)	Y801F	probably benign	Het
Sgcz	A	T	8: 38,107,169 (GRCm39)	S114R	probably damaging	Het
Tenm4	A	G	7: 96,202,757 (GRCm39)	D124G	probably damaging	Het
Zscan22	T	G	7: 12,640,398 (GRCm39)	M214R	probably benign	Het

Other mutations in Rc3h2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00234:Rc3h2	APN	2	37,279,759 (GRCm39)	missense	possibly damaging	0.59
IGL00944:Rc3h2	APN	2	37,288,250 (GRCm39)	splice site	probably benign
IGL01065:Rc3h2	APN	2	37,267,856 (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

2014-05-07