Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02698:Rc3h2'

304031

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 #

IGL02698

Quality Score

Status

Chromosome

Chromosomal Location

37370069-37422903 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 37405300 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Threonine at position 235 (S235T)

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
AA Change: S235T

PolyPhen 2 Score 0.388 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000097721
Gene: ENSMUSG00000075376
AA Change: S235T

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
AA Change: S235T

PolyPhen 2 Score 0.388 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000108556
Gene: ENSMUSG00000075376
AA Change: S235T

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
AA Change: S235T

PolyPhen 2 Score 0.388 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000108558
Gene: ENSMUSG00000075376
AA Change: S235T

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: ENSMUST00000124218

Predicted Effect

probably damaging
Transcript: ENSMUST00000125619
AA Change: S235T

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000145082
Gene: ENSMUSG00000075376
AA Change: S235T

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

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: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Arpp21	T	A	9: 112,185,744		probably benign	Het
Car8	A	T	4: 8,185,598	I186N	probably benign	Het
Ccdc174	G	A	6: 91,890,853	S183N	probably benign	Het
Ccdc66	T	A	14: 27,490,792	K525*	probably null	Het
Cebpz	A	G	17: 78,935,574	V217A	probably benign	Het
Cfap36	C	A	11: 29,247,014		probably null	Het
Cpne4	T	C	9: 105,032,785	V527A	probably damaging	Het
Crh	T	G	3: 19,694,190	D96A	possibly damaging	Het
Csgalnact1	C	A	8: 68,401,492	G219V	probably damaging	Het
Dcp1a	A	T	14: 30,505,542		probably benign	Het
Ddhd1	A	T	14: 45,605,206		probably benign	Het
Dis3l2	C	T	1: 87,048,829		probably benign	Het
Dopey1	T	C	9: 86,524,359		probably benign	Het
Etv3	A	G	3: 87,536,578	T490A	possibly damaging	Het
Fastkd2	A	G	1: 63,747,999	T531A	probably benign	Het
Fat1	C	T	8: 45,023,164	A1749V	probably benign	Het
Fgfr1	T	A	8: 25,573,608	L761*	probably null	Het
Gcc2	A	G	10: 58,271,290	K683E	possibly damaging	Het
Gm17677	T	C	9: 35,741,120		probably benign	Het
Gm5117	C	T	8: 31,739,739		noncoding transcript	Het
Hif1a	T	C	12: 73,930,771		probably null	Het
Inha	A	G	1: 75,509,883	E274G	probably damaging	Het
Itih2	G	T	2: 10,130,501	P26H	probably damaging	Het
Kif23	G	A	9: 61,925,001	T620I	possibly damaging	Het
Klhl30	T	C	1: 91,353,707	F10S	probably damaging	Het
Kmt2b	T	C	7: 30,578,693		probably benign	Het
Lmf2	A	C	15: 89,354,154	L174R	probably damaging	Het
Med13l	T	C	5: 118,762,829	L2216P	probably damaging	Het
Mmp1b	T	A	9: 7,384,877	L257F	probably damaging	Het
Net1	A	G	13: 3,887,569		probably null	Het
Nfasc	A	G	1: 132,634,737	V100A	probably benign	Het
Nr4a2	A	G	2: 57,108,160	F535S	probably damaging	Het
Ntn4	G	T	10: 93,644,659	A45S	probably benign	Het
Olfr1141	T	A	2: 87,753,844	K50*	probably null	Het
Olfr1197	T	A	2: 88,729,471	I43F	probably damaging	Het
Olfr1386	T	A	11: 49,470,863	F237L	probably benign	Het
Olfr243	T	C	7: 103,717,278	V228A	probably damaging	Het
Olfr25	A	G	9: 38,330,210	T208A	probably benign	Het
Pappa	A	T	4: 65,181,020	E592V	probably damaging	Het
Pi4ka	A	T	16: 17,291,168	I1630N	probably damaging	Het
Ptprb	A	G	10: 116,363,280	D1997G	probably benign	Het
S1pr1	T	A	3: 115,712,097	K283*	probably null	Het
Scn5a	T	A	9: 119,521,097	T904S	probably damaging	Het
Sema6d	T	C	2: 124,653,723	L30P	possibly damaging	Het
Slc26a7	A	C	4: 14,593,867	S83A	possibly damaging	Het
Slco1a6	C	A	6: 142,103,011	G348*	probably null	Het
Srgap3	C	T	6: 112,746,928	V524I	probably damaging	Het
Stxbp3-ps	A	T	19: 9,558,324		noncoding transcript	Het
Sv2b	C	T	7: 75,140,978		probably null	Het
Sympk	T	C	7: 19,045,634	I663T	probably benign	Het
Ttn	C	A	2: 76,944,771	V1976L	probably damaging	Het
Uqcrc1	T	C	9: 108,947,943		probably null	Het
Vmn2r111	T	C	17: 22,571,245	Y260C	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
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
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