Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00944:Rc3h2'

26935

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 #

IGL00944

Quality Score

Status

Chromosome

Chromosomal Location

37260081-37312915 bp(-) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

A to G at 37288250 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

noncoding transcript
Transcript: ENSMUST00000104568

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: ENSMUST00000204962

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
Atp10b	A	G	11: 43,092,988 (GRCm39)	N441S	probably damaging	Het
Bod1l	A	G	5: 41,974,166 (GRCm39)	C2383R	probably benign	Het
Dapk3	G	T	10: 81,019,910 (GRCm39)		probably null	Het
Dock6	T	C	9: 21,757,930 (GRCm39)	D58G	possibly damaging	Het
Etl4	G	A	2: 20,534,865 (GRCm39)	V107I	possibly damaging	Het
Fam163b	A	G	2: 27,003,597 (GRCm39)	L19P	probably damaging	Het
Fbxl20	A	C	11: 98,004,068 (GRCm39)	F73L	probably damaging	Het
Foxj2	T	C	6: 122,816,594 (GRCm39)	L492P	probably damaging	Het
Hfm1	A	T	5: 107,049,996 (GRCm39)	V391E	possibly damaging	Het
Ift74	T	C	4: 94,581,259 (GRCm39)	Y586H	probably damaging	Het
Klhl12	A	G	1: 134,411,491 (GRCm39)	N280S	probably benign	Het
Lctl	T	A	9: 64,040,411 (GRCm39)	Y292*	probably null	Het
Ltb	C	A	17: 35,413,642 (GRCm39)	Q49K	possibly damaging	Het
Mapk1	T	A	16: 16,853,322 (GRCm39)	D289E	probably benign	Het
Mideas	A	G	12: 84,207,322 (GRCm39)		probably benign	Het
Mroh2b	C	T	15: 4,980,609 (GRCm39)		probably benign	Het
Myot	T	C	18: 44,470,181 (GRCm39)	S53P	possibly damaging	Het
Opn5	G	A	17: 42,922,119 (GRCm39)	L28F	probably damaging	Het
Or5b97	A	T	19: 12,878,719 (GRCm39)	Y142N	probably benign	Het
Or8k39	A	G	2: 86,563,905 (GRCm39)	I17T	possibly damaging	Het
Pals2	T	C	6: 50,140,436 (GRCm39)	V152A	possibly damaging	Het
Pld1	T	A	3: 28,099,247 (GRCm39)		probably null	Het
Robo2	T	A	16: 73,730,585 (GRCm39)	H1009L	possibly damaging	Het
Setd7	T	A	3: 51,440,459 (GRCm39)	D194V	probably damaging	Het
Sh3bp1	A	T	15: 78,789,314 (GRCm39)	D288V	possibly damaging	Het
Smpd4	T	C	16: 17,460,621 (GRCm39)	I809T	probably benign	Het
Spata6	C	T	4: 111,663,125 (GRCm39)		probably benign	Het
Trnau1ap	C	A	4: 132,055,817 (GRCm39)	V30L	possibly damaging	Het
Trpm4	T	C	7: 44,967,773 (GRCm39)	H386R	probably benign	Het
Ttc3	T	G	16: 94,227,620 (GRCm39)		probably null	Het
Ufd1	T	C	16: 18,643,781 (GRCm39)	V180A	possibly damaging	Het
Vmn2r102	A	G	17: 19,899,154 (GRCm39)	I499V	probably damaging	Het
Zfp112	C	A	7: 23,825,021 (GRCm39)	Q330K	probably benign	Het
Zfp668	G	A	7: 127,467,079 (GRCm39)	R166W	probably damaging	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
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

2013-04-17