Mutagenetix > Incidental Mutation

Incidental Mutation 'R0506:Rc3h2'

47551

Institutional Source

Beutler Lab

Gene Symbol

Rc3h2

Ensembl Gene

ENSMUSG00000075376

Gene Name

ring finger and CCCH-type zinc finger domains 2

Synonyms

D930043C02Rik, Mnab, 2900024N03Rik, Rnf164, 9430019J22Rik

MMRRC Submission

038701-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0506 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

37260081-37312915 bp(-) (GRCm39)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

A to T at 37266671 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000108556 (fasta)

Gene Model

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

AlphaFold

P0C090

Predicted Effect

silent
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 null
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 null
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

silent
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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000204959

Coding Region Coverage

1x: 99.6%
3x: 98.8%
10x: 96.7%
20x: 93.3%

Validation Efficiency

100% (100/100)

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: 97 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acsm5	T	A	7: 119,137,319 (GRCm39)	C378*	probably null	Het
Ago3	T	C	4: 126,311,045 (GRCm39)	D56G	possibly damaging	Het
Ahnak	G	T	19: 8,986,492 (GRCm39)	G2592V	probably damaging	Het
Aldh6a1	C	T	12: 84,480,300 (GRCm39)	G470D	probably damaging	Het
Ankub1	T	A	3: 57,597,796 (GRCm39)	N58I	probably damaging	Het
Apol7b	G	T	15: 77,309,728 (GRCm39)	T23K	probably benign	Het
Arap2	G	A	5: 62,763,474 (GRCm39)	P1557S	possibly damaging	Het
Arhgap24	T	C	5: 103,023,643 (GRCm39)	Y136H	probably damaging	Het
Atp1a1	A	G	3: 101,497,128 (GRCm39)	F393L	probably damaging	Het
Bcdin3d	A	T	15: 99,368,873 (GRCm39)	C109S	probably damaging	Het
Catsperd	A	G	17: 56,965,078 (GRCm39)	K475R	possibly damaging	Het
Cblb	A	G	16: 52,024,843 (GRCm39)	T913A	probably benign	Het
Cbx6	A	G	15: 79,712,404 (GRCm39)	L341P	probably benign	Het
Cd177	T	C	7: 24,457,781 (GRCm39)	Y159C	probably damaging	Het
Cdh20	A	G	1: 110,027,844 (GRCm39)	N530D	probably damaging	Het
Cdk8	T	C	5: 146,235,682 (GRCm39)	F270L	probably damaging	Het
Ces2c	A	T	8: 105,574,656 (GRCm39)	T38S	probably damaging	Het
Chst14	T	C	2: 118,758,202 (GRCm39)	L357P	probably damaging	Het
Clca3b	T	A	3: 144,528,627 (GRCm39)		probably benign	Het
Cluh	A	G	11: 74,555,720 (GRCm39)	S839G	probably benign	Het
Cnga4	T	A	7: 105,056,947 (GRCm39)	V350E	probably damaging	Het
Creb1	G	A	1: 64,609,426 (GRCm39)	G180R	probably damaging	Het
Csmd3	T	C	15: 48,320,907 (GRCm39)	E301G	probably benign	Het
Cyp4f18	A	T	8: 72,749,844 (GRCm39)	D268E	probably benign	Het
Dock5	A	G	14: 68,022,241 (GRCm39)		probably benign	Het
Dpy19l4	T	A	4: 11,289,715 (GRCm39)	H332L	probably benign	Het
Dync2h1	T	A	9: 7,113,153 (GRCm39)	H224L	probably benign	Het
Dzip1l	C	A	9: 99,545,134 (GRCm39)	Q585K	possibly damaging	Het
Erf	C	T	7: 24,943,801 (GRCm39)	G510D	probably damaging	Het
Fanci	T	C	7: 79,081,926 (GRCm39)	L623P	probably benign	Het
Fat1	T	C	8: 45,475,988 (GRCm39)	V1655A	probably damaging	Het
Fat4	T	C	3: 38,942,463 (GRCm39)	V452A	probably benign	Het
Gal3st4	C	T	5: 138,264,151 (GRCm39)	G283S	probably benign	Het
Gm5422	A	G	10: 31,126,318 (GRCm39)		noncoding transcript	Het
Gnal	C	T	18: 67,221,744 (GRCm39)	T49I	unknown	Het
Gng5	A	G	3: 146,209,103 (GRCm39)	N57S	probably damaging	Het
Herc1	A	G	9: 66,355,441 (GRCm39)	I2231V	probably damaging	Het
Hgfac	G	T	5: 35,201,584 (GRCm39)	G272W	probably damaging	Het
Hmcn1	T	A	1: 150,618,092 (GRCm39)	D1265V	possibly damaging	Het
Ifi207	T	A	1: 173,563,878 (GRCm39)	Q47L	possibly damaging	Het
Klhl40	G	A	9: 121,607,133 (GRCm39)	E98K	probably damaging	Het
Lepr	G	T	4: 101,630,207 (GRCm39)		probably benign	Het
Lyst	A	G	13: 13,812,600 (GRCm39)	H1004R	probably benign	Het
Map3k1	T	A	13: 111,892,298 (GRCm39)	R986*	probably null	Het
Mmp1b	C	A	9: 7,387,013 (GRCm39)	Q66H	possibly damaging	Het
Mpo	T	C	11: 87,694,330 (GRCm39)	S107P	probably benign	Het
Mroh9	T	C	1: 162,888,205 (GRCm39)	H290R	possibly damaging	Het
Myo7b	A	G	18: 32,097,439 (GRCm39)		probably null	Het
Myom1	T	C	17: 71,399,215 (GRCm39)		probably benign	Het
Nalcn	C	T	14: 123,834,026 (GRCm39)	V50I	possibly damaging	Het
Negr1	A	G	3: 156,866,385 (GRCm39)		probably benign	Het
Nlrc5	T	G	8: 95,219,753 (GRCm39)		probably benign	Het
Nyap2	G	A	1: 81,065,029 (GRCm39)	D14N	probably damaging	Het
Or10w1	T	A	19: 13,632,261 (GRCm39)	I151N	possibly damaging	Het
Or2h1	C	A	17: 37,404,203 (GRCm39)	G188W	probably damaging	Het
Or5b105	G	A	19: 13,080,642 (GRCm39)	R3C	possibly damaging	Het
Parp14	A	T	16: 35,661,779 (GRCm39)	S1419T	possibly damaging	Het
Piezo2	A	G	18: 63,160,615 (GRCm39)	F2347S	probably damaging	Het
Pigf	A	G	17: 87,316,337 (GRCm39)	V147A	probably benign	Het
Pkhd1	A	T	1: 20,629,693 (GRCm39)	M637K	probably benign	Het
Plce1	T	C	19: 38,748,582 (GRCm39)	I1771T	probably benign	Het
Ppp6c	A	T	2: 39,096,660 (GRCm39)		probably benign	Het
Prag1	T	C	8: 36,570,854 (GRCm39)	V479A	possibly damaging	Het
Prss33	A	T	17: 24,054,079 (GRCm39)	D42E	probably benign	Het
Psmb10	A	G	8: 106,664,177 (GRCm39)	V64A	possibly damaging	Het
Psmd14	A	G	2: 61,630,407 (GRCm39)	T306A	probably benign	Het
Psmg1	C	T	16: 95,790,687 (GRCm39)		probably benign	Het
Reln	C	T	5: 22,125,494 (GRCm39)	V2730I	probably damaging	Het
Sec24a	A	T	11: 51,634,622 (GRCm39)	H101Q	probably benign	Het
Selenoi	A	G	5: 30,471,954 (GRCm39)	N385S	probably benign	Het
Slc24a4	T	C	12: 102,097,882 (GRCm39)		probably null	Het
Slc4a10	G	A	2: 62,080,877 (GRCm39)	S338N	probably benign	Het
Slfn3	A	T	11: 83,103,986 (GRCm39)	T286S	probably damaging	Het
Snx29	A	G	16: 11,213,167 (GRCm39)	D111G	probably benign	Het
Sp8	T	C	12: 118,812,300 (GRCm39)	S52P	possibly damaging	Het
Srek1	G	T	13: 103,897,098 (GRCm39)	T81K	probably damaging	Het
Sry	C	G	Y: 2,662,864 (GRCm39)	Q265H	unknown	Het
Taf3	A	G	2: 9,945,804 (GRCm39)	V600A	probably benign	Het
Tatdn2	C	A	6: 113,679,550 (GRCm39)	D298E	probably benign	Het
Tmem253	A	T	14: 52,254,663 (GRCm39)		probably benign	Het
Tmem63a	T	A	1: 180,785,614 (GRCm39)		probably null	Het
Tmprss11b	T	C	5: 86,809,499 (GRCm39)	D331G	probably damaging	Het
Tor1aip1	T	A	1: 155,883,420 (GRCm39)	K143*	probably null	Het
Trappc8	A	T	18: 20,977,245 (GRCm39)	N841K	possibly damaging	Het
Trio	T	C	15: 27,855,049 (GRCm39)	Q711R	probably benign	Het
Trmt10b	C	A	4: 45,304,306 (GRCm39)	T114N	probably damaging	Het
Trpv2	C	A	11: 62,473,732 (GRCm39)	A129D	probably benign	Het
Ttll4	T	G	1: 74,727,777 (GRCm39)	D846E	probably benign	Het
Ugt2a3	A	G	5: 87,484,508 (GRCm39)	L172P	possibly damaging	Het
Usp19	T	A	9: 108,371,686 (GRCm39)	F355Y	probably damaging	Het
Vmn1r209	C	T	13: 22,990,114 (GRCm39)	G192D	probably damaging	Het
Vmn2r107	T	G	17: 20,578,021 (GRCm39)	D443E	probably benign	Het
Wee2	A	T	6: 40,440,187 (GRCm39)	E445V	probably benign	Het
Zer1	A	T	2: 29,991,819 (GRCm39)	I680N	probably damaging	Het
Zfhx4	T	C	3: 5,467,795 (GRCm39)	L2651P	probably damaging	Het
Zfp692	C	T	11: 58,199,881 (GRCm39)	Q157*	probably null	Het
Zfp964	T	A	8: 70,116,587 (GRCm39)	C396S	unknown	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
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
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

Predicted Primers

Posted On

2013-06-12