Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02123:Rc3h2'

280704

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

Mnab, D930043C02Rik, Rnf164, 2900024N03Rik, 9430019J22Rik

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL02123

Quality Score

Status

Chromosome

Chromosomal Location

37370069-37422903 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 37398253 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 439 (E439G)

Ref Sequence

ENSEMBL: ENSMUSP00000145082 (fasta)

Gene Model

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

AlphaFold

P0C090

Predicted Effect

possibly damaging
Transcript: ENSMUST00000100143
AA Change: E439G

PolyPhen 2 Score 0.883 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000097721
Gene: ENSMUSG00000075376
AA Change: E439G

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

possibly damaging
Transcript: ENSMUST00000112934
AA Change: E439G

PolyPhen 2 Score 0.883 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000108556
Gene: ENSMUSG00000075376
AA Change: E439G

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: E439G

PolyPhen 2 Score 0.883 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000108558
Gene: ENSMUSG00000075376
AA Change: E439G

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 damaging
Transcript: ENSMUST00000125619
AA Change: E439G

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

SMART Domains

Protein: ENSMUSP00000145082
Gene: ENSMUSG00000075376
AA Change: E439G

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: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acp7	T	C	7: 28,629,489	T31A	probably benign	Het
Aldh16a1	G	A	7: 45,146,035	P400L	probably damaging	Het
Ampd3	T	C	7: 110,802,559	V429A	possibly damaging	Het
Brd8	C	T	18: 34,602,727	S899N	probably damaging	Het
Cldn11	C	T	3: 31,150,187	T13M	probably benign	Het
Cngb3	C	A	4: 19,367,801	Q237K	probably damaging	Het
Col12a1	A	G	9: 79,662,458		probably null	Het
Copa	T	A	1: 172,112,128	L621H	probably damaging	Het
Dbn1	T	C	13: 55,476,740	D332G	possibly damaging	Het
Drc1	T	C	5: 30,347,104	S197P	probably benign	Het
E2f2	A	G	4: 136,172,848	N23S	probably benign	Het
Epb41l2	T	A	10: 25,460,844	L246H	probably damaging	Het
Fam13b	G	A	18: 34,445,618		probably benign	Het
Fam184b	A	G	5: 45,639,151	M30T	possibly damaging	Het
Fam71d	T	C	12: 78,734,207		probably null	Het
Fn3krp	G	A	11: 121,429,444	R205H	probably benign	Het
Fndc11	A	G	2: 181,221,650	I83V	probably benign	Het
Gm3460	C	T	14: 6,619,542	R150H	probably benign	Het
Hs6st1	T	A	1: 36,103,871	F296I	possibly damaging	Het
Igsf10	T	A	3: 59,318,660	I2531F	probably damaging	Het
Klhl40	T	C	9: 121,779,923	F385L	probably benign	Het
Krt83	A	T	15: 101,487,585	M302K	possibly damaging	Het
Lrrc43	A	T	5: 123,494,279	I162F	probably damaging	Het
Map3k21	A	G	8: 125,926,110	E325G	probably damaging	Het
Mpo	A	T	11: 87,794,795	N33I	probably benign	Het
Mpp4	A	G	1: 59,161,466		probably null	Het
Muc5b	C	T	7: 141,863,757	T3480I	possibly damaging	Het
Myo6	T	C	9: 80,264,272		probably benign	Het
Nostrin	C	T	2: 69,156,109		probably benign	Het
Nphp1	T	C	2: 127,754,049	M498V	probably benign	Het
Nr4a2	A	T	2: 57,111,655	L199Q	possibly damaging	Het
Pcdhb6	A	T	18: 37,335,820	N598I	probably damaging	Het
Pex19	T	A	1: 172,134,286	M207K	probably damaging	Het
Pfkfb4	C	T	9: 109,025,110	R351W	probably damaging	Het
Plekha2	T	C	8: 25,042,729	K409E	probably damaging	Het
Plxna2	T	C	1: 194,794,383	L1169P	probably damaging	Het
Pmpcb	A	G	5: 21,743,375		probably benign	Het
Ptrh1	T	C	2: 32,776,814		probably benign	Het
Ric1	C	T	19: 29,594,800	A665V	probably benign	Het
Stx18	T	A	5: 38,128,103	V219D	probably damaging	Het
Taf7	A	T	18: 37,642,480		probably benign	Het
Tbc1d8	A	G	1: 39,380,236	S766P	probably damaging	Het
Tbc1d8	A	G	1: 39,376,907	I895T	possibly damaging	Het
Tekt3	C	A	11: 63,083,940	H362N	probably benign	Het
Tmem214	G	A	5: 30,872,746	A296T	probably benign	Het
Tmem94	T	C	11: 115,787,538	S196P	possibly damaging	Het
Vmn2r14	T	C	5: 109,220,067	Y353C	probably damaging	Het
Vmn2r9	G	A	5: 108,843,636	L620F	probably damaging	Het
Vmn2r90	T	G	17: 17,733,482	M636R	probably benign	Het
Vmn2r98	T	A	17: 19,080,679	C648S	probably damaging	Het
Zfpm2	G	A	15: 41,102,195	C560Y	probably damaging	Het

Other mutations in Rc3h2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00234:Rc3h2	APN	2	37389747	missense	possibly damaging	0.59
IGL00944:Rc3h2	APN	2	37398238	splice site	probably benign
IGL01065:Rc3h2	APN	2	37377844	splice site	probably benign
IGL01966:Rc3h2	APN	2	37382777	splice site	probably benign
IGL02174:Rc3h2	APN	2	37411225	missense	probably benign	0.11
IGL02448:Rc3h2	APN	2	37389805	missense	probably benign	0.08
IGL02539:Rc3h2	APN	2	37389715	missense	probably benign	0.09
IGL02698:Rc3h2	APN	2	37405300	missense	probably damaging	0.99
IGL02731:Rc3h2	APN	2	37382811	missense	probably benign	0.00
IGL02958:Rc3h2	APN	2	37414700	missense	probably damaging	1.00
IGL02959:Rc3h2	APN	2	37405354	missense	probably damaging	1.00
PIT4468001:Rc3h2	UTSW	2	37399639	missense	probably damaging	1.00
R0309:Rc3h2	UTSW	2	37379008	splice site	probably benign
R0488:Rc3h2	UTSW	2	37389588	missense	probably damaging	0.99
R0506:Rc3h2	UTSW	2	37376659	critical splice donor site	probably null
R0612:Rc3h2	UTSW	2	37411215	missense	possibly damaging	0.77
R0628:Rc3h2	UTSW	2	37382052	splice site	probably benign
R0647:Rc3h2	UTSW	2	37409530	missense	probably damaging	1.00
R0680:Rc3h2	UTSW	2	37399835	missense	probably damaging	0.97
R0738:Rc3h2	UTSW	2	37405374	missense	probably damaging	1.00
R2005:Rc3h2	UTSW	2	37389753	nonsense	probably null
R2105:Rc3h2	UTSW	2	37399624	missense	possibly damaging	0.89
R2133:Rc3h2	UTSW	2	37378916	missense	probably benign	0.12
R2373:Rc3h2	UTSW	2	37379001	missense	possibly damaging	0.94
R2414:Rc3h2	UTSW	2	37399819	critical splice donor site	probably null
R2850:Rc3h2	UTSW	2	37377415	missense	probably benign
R2913:Rc3h2	UTSW	2	37378959	missense	possibly damaging	0.89
R2932:Rc3h2	UTSW	2	37378359	missense	probably benign	0.10
R4441:Rc3h2	UTSW	2	37414514	critical splice donor site	probably null
R4932:Rc3h2	UTSW	2	37389832	missense	possibly damaging	0.77
R5114:Rc3h2	UTSW	2	37398361	splice site	probably null
R5169:Rc3h2	UTSW	2	37405312	missense	probably damaging	1.00
R5360:Rc3h2	UTSW	2	37389855	missense	possibly damaging	0.59
R5477:Rc3h2	UTSW	2	37399630	missense	possibly damaging	0.94
R5553:Rc3h2	UTSW	2	37398311	nonsense	probably null
R5776:Rc3h2	UTSW	2	37378313	missense	possibly damaging	0.59
R5842:Rc3h2	UTSW	2	37378371	missense	possibly damaging	0.77
R5935:Rc3h2	UTSW	2	37414733	frame shift	probably null
R6060:Rc3h2	UTSW	2	37399600	missense	possibly damaging	0.77
R6112:Rc3h2	UTSW	2	37378887	missense	possibly damaging	0.59
R6172:Rc3h2	UTSW	2	37414733	frame shift	probably null
R6173:Rc3h2	UTSW	2	37414733	frame shift	probably null
R6177:Rc3h2	UTSW	2	37389646	missense	probably benign	0.02
R6455:Rc3h2	UTSW	2	37409470	missense	probably damaging	1.00
R6457:Rc3h2	UTSW	2	37411139	critical splice donor site	probably null
R6467:Rc3h2	UTSW	2	37382016	missense	probably damaging	0.97
R6647:Rc3h2	UTSW	2	37382944	nonsense	probably null
R6694:Rc3h2	UTSW	2	37400543	missense	probably damaging	1.00
R6695:Rc3h2	UTSW	2	37414661	missense	possibly damaging	0.88
R7054:Rc3h2	UTSW	2	37375246	missense	probably benign	0.07
R7159:Rc3h2	UTSW	2	37409647	missense	probably benign	0.39
R7162:Rc3h2	UTSW	2	37409605	missense	possibly damaging	0.59
R7640:Rc3h2	UTSW	2	37377849	critical splice donor site	probably null
R7676:Rc3h2	UTSW	2	37405332	missense	possibly damaging	0.95
R8209:Rc3h2	UTSW	2	37376989	missense	possibly damaging	0.77
R8226:Rc3h2	UTSW	2	37376989	missense	possibly damaging	0.77
R8324:Rc3h2	UTSW	2	37400726	missense	possibly damaging	0.77
R8528:Rc3h2	UTSW	2	37382799	missense	probably benign	0.05
R8836:Rc3h2	UTSW	2	37377929	missense	possibly damaging	0.59
R8957:Rc3h2	UTSW	2	37399648	missense	possibly damaging	0.59
R9053:Rc3h2	UTSW	2	37399616	missense	possibly damaging	0.95
R9131:Rc3h2	UTSW	2	37414690	missense	possibly damaging	0.94
R9178:Rc3h2	UTSW	2	37405252	missense	possibly damaging	0.77
R9437:Rc3h2	UTSW	2	37382829	missense	possibly damaging	0.94
X0013:Rc3h2	UTSW	2	37389786	missense	possibly damaging	0.60
Z1187:Rc3h2	UTSW	2	37399600	missense	possibly damaging	0.77
Z1188:Rc3h2	UTSW	2	37399600	missense	possibly damaging	0.77
Z1189:Rc3h2	UTSW	2	37409556	missense	possibly damaging	0.94
Z1192:Rc3h2	UTSW	2	37399600	missense	possibly damaging	0.77
Z1192:Rc3h2	UTSW	2	37409556	missense	possibly damaging	0.94

Posted On

2015-04-16