Mutagenetix > Incidental Mutation

Incidental Mutation 'R4932:Rc3h2'

380603

Institutional Source

Beutler Lab

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 #

R4932 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

37370069-37422903 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 37389832 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Glutamic Acid at position 462 (K462E)

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: K462E

PolyPhen 2 Score 0.767 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000097721
Gene: ENSMUSG00000075376
AA Change: K462E

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: K462E

PolyPhen 2 Score 0.767 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000108556
Gene: ENSMUSG00000075376
AA Change: K462E

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: K462E

PolyPhen 2 Score 0.767 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000108558
Gene: ENSMUSG00000075376
AA Change: K462E

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: ENSMUST00000205124

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.5%
20x: 93.0%

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: 84 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933417A18Rik	A	T	13: 34,932,630	T121S	possibly damaging	Het
Abcf1	A	T	17: 35,959,450	V616E	possibly damaging	Het
Adam21	A	G	12: 81,558,918	V690A	probably benign	Het
Afg3l1	A	T	8: 123,501,380	T635S	probably damaging	Het
Ahcyl2	T	A	6: 29,890,701	M390K	probably benign	Het
Ank3	T	A	10: 69,898,223		probably null	Het
Arhgef3	A	T	14: 27,384,213	K151N	probably damaging	Het
Ccr3	T	G	9: 124,029,006	F126C	probably damaging	Het
Ccser1	A	G	6: 61,718,191	D170G	possibly damaging	Het
Celsr2	T	A	3: 108,402,758	D1552V	probably damaging	Het
Cfap69	G	A	5: 5,625,820	L265F	probably damaging	Het
Chrna9	C	T	5: 65,969,190	R92*	probably null	Het
Cog3	A	T	14: 75,732,954	V341D	probably damaging	Het
Csmd1	C	A	8: 16,023,765	R2072L	probably damaging	Het
Dbf4	G	T	5: 8,398,039	H390Q	probably benign	Het
Dcaf4	T	A	12: 83,532,304	C166S	possibly damaging	Het
Dclk3	T	A	9: 111,468,042	L218Q	possibly damaging	Het
Dip2b	T	A	15: 100,171,722	W643R	probably damaging	Het
Dip2c	A	G	13: 9,623,972	K1091E	probably damaging	Het
Dis3	T	A	14: 99,088,904	H415L	probably damaging	Het
Dnah7a	T	A	1: 53,503,578	I2478F	possibly damaging	Het
Dnah8	G	A	17: 30,748,568	D2585N	probably benign	Het
Doc2a	T	C	7: 126,848,580		probably benign	Het
Dph5	A	T	3: 115,899,807	M125L	probably benign	Het
Dst	A	T	1: 34,228,683	T5247S	possibly damaging	Het
Eno4	T	G	19: 58,964,457	V477G	possibly damaging	Het
Exosc8	T	C	3: 54,729,290	I207V	possibly damaging	Het
Fam173a	T	G	17: 25,791,678		probably null	Het
Fat4	T	A	3: 39,007,203	S4312T	probably benign	Het
Fgfr2	T	C	7: 130,241,277	D126G	probably damaging	Het
Fgfr4	A	G	13: 55,168,170	T799A	unknown	Het
Gcn1l1	A	T	5: 115,592,144	D839V	probably benign	Het
Gprin3	A	G	6: 59,354,173	V383A	probably benign	Het
Gpt	T	C	15: 76,698,840	V361A	probably benign	Het
Hepacam	G	A	9: 37,381,764	C217Y	probably damaging	Het
Hsp90aa1	A	T	12: 110,693,717	Y382N	probably damaging	Het
Htr2a	T	A	14: 74,642,022	N30K	probably benign	Het
Jhy	A	T	9: 40,961,003	M70K	possibly damaging	Het
Lrrc19	T	C	4: 94,640,937	Y36C	probably damaging	Het
Madcam1	C	T	10: 79,665,613	Q171*	probably null	Het
Mcm8	G	A	2: 132,838,709	M544I	probably benign	Het
Mdga1	C	T	17: 29,857,606	G64E	probably damaging	Het
Mettl7a1	T	A	15: 100,305,106	F87Y	probably benign	Het
Mmp3	A	G	9: 7,446,994	D58G	probably benign	Het
Ms4a10	T	C	19: 10,964,768	Y123C	probably damaging	Het
Ms4a4d	T	A	19: 11,557,932	I198K	probably benign	Het
Mthfd1l	A	T	10: 3,980,241	D112V	probably benign	Het
N4bp2l2	A	C	5: 150,643,141	S567R	probably benign	Het
Ndufaf2	A	G	13: 108,158,476	Y32H	probably damaging	Het
Nup153	T	A	13: 46,712,737	K182*	probably null	Het
Olfr1186	A	G	2: 88,525,735	T51A	probably benign	Het
Olfr481	T	A	7: 108,081,574	V260E	probably damaging	Het
Olfr551	A	G	7: 102,588,416	F109S	probably damaging	Het
Otoa	T	C	7: 121,155,135	S928P	probably damaging	Het
Oxct2a	T	C	4: 123,322,703	D295G	probably benign	Het
P4ha2	C	A	11: 54,125,020	T411K	probably benign	Het
Plcg2	A	T	8: 117,607,083	Q865L	probably benign	Het
Prepl	G	T	17: 85,078,504	T244K	possibly damaging	Het
Ptpro	A	T	6: 137,411,105	K776*	probably null	Het
Scn10a	A	G	9: 119,687,874		probably null	Het
Serpinb1c	A	G	13: 32,882,164	V266A	probably damaging	Het
Slc6a20b	T	A	9: 123,604,796	N326Y	probably damaging	Het
Spcs2	C	T	7: 99,858,831	G16D	possibly damaging	Het
Spns3	T	C	11: 72,499,495	D441G	possibly damaging	Het
Srsf4	A	G	4: 131,891,245	D49G	probably damaging	Het
Tec	A	T	5: 72,760,393	C494*	probably null	Het
Tecpr1	A	T	5: 144,204,658	Y798N	probably damaging	Het
Trim56	C	T	5: 137,114,489	E58K	probably damaging	Het
Ttn	A	T	2: 76,796,134	D13146E	probably damaging	Het
Ube2q1	A	T	3: 89,779,483	K46*	probably null	Het
Ucn	G	T	5: 31,138,498	T8K	probably benign	Het
Usp25	T	C	16: 77,033,982		probably null	Het
Usp48	A	T	4: 137,615,833	Q430L	probably benign	Het
Usp48	A	T	4: 137,615,834		probably null	Het
Vill	A	T	9: 119,061,511	D164V	probably damaging	Het
Vmn2r91	T	A	17: 18,136,489	M806K	possibly damaging	Het
Wdfy4	T	A	14: 33,029,013	Y2256F	probably damaging	Het
Wsb1	A	G	11: 79,251,000	S64P	probably damaging	Het
Zc3h11a	C	A	1: 133,624,612	V586F	probably benign	Het
Zc3h12d	A	G	10: 7,853,250	D126G	probably damaging	Het
Zfp296	G	T	7: 19,579,712	C164F	possibly damaging	Het
Zfp442	T	A	2: 150,409,715	H89L	possibly damaging	Het
Zfp82	T	A	7: 30,056,887		probably null	Het
Zmynd8	A	G	2: 165,834,951	V249A	possibly 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
IGL02123:Rc3h2	APN	2	37398253	missense	probably damaging	1.00
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
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

Predicted Primers

PCR Primer
(F):5'- CCAGCATTCTGAGCATTAGTGC -3'
(R):5'- GCCTGCATTTGTATGTGACATG -3'

Sequencing Primer
(F):5'- GACTTTCTTCACAGTCTCCAAAG -3'
(R):5'- CTGCATTTGTATGTGACATGTATATG -3'

Posted On

2016-04-15