Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02959:Rc3h2'

365286

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 #

IGL02959

Quality Score

Status

Chromosome

Chromosomal Location

37370069-37422903 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 37405354 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Glutamic Acid at position 217 (K217E)

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: K217E

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

SMART Domains

Protein: ENSMUSP00000097721
Gene: ENSMUSG00000075376
AA Change: K217E

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: K217E

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

SMART Domains

Protein: ENSMUSP00000108556
Gene: ENSMUSG00000075376
AA Change: K217E

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: K217E

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

SMART Domains

Protein: ENSMUSP00000108558
Gene: ENSMUSG00000075376
AA Change: K217E

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: K217E

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000145082
Gene: ENSMUSG00000075376
AA Change: K217E

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: 46 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A2ml1	G	T	6: 128,567,060	A506D	probably benign	Het
Agap1	G	T	1: 89,843,191	V635L	possibly damaging	Het
Akr1c12	T	C	13: 4,279,332	K9E	probably benign	Het
Alms1	T	A	6: 85,629,052	Y2561*	probably null	Het
Atm	T	C	9: 53,471,418	H1957R	probably damaging	Het
Bcr	T	C	10: 75,160,390	F922S	probably benign	Het
Cfap44	T	A	16: 44,470,867		probably benign	Het
Chil5	A	G	3: 106,019,590	V243A	probably damaging	Het
Csmd1	A	G	8: 15,910,465	C3317R	probably damaging	Het
Dsc1	T	C	18: 20,108,885	K133R	probably damaging	Het
Ecm1	T	A	3: 95,737,677	Q136L	probably damaging	Het
Fscn3	C	A	6: 28,435,998	A431E	possibly damaging	Het
Gas7	C	T	11: 67,674,235		probably benign	Het
Gbx2	A	G	1: 89,928,795	V291A	probably damaging	Het
Hipk3	G	A	2: 104,471,259	T196M	probably damaging	Het
Il20ra	T	A	10: 19,759,041	N343K	probably benign	Het
Il24	C	T	1: 130,885,733	W42*	probably null	Het
Kif13b	A	T	14: 64,767,717	I1153F	probably damaging	Het
Krt2	A	T	15: 101,811,328	S636T	unknown	Het
Olfr1302	T	A	2: 111,780,610	C97S	probably damaging	Het
Olfr215	A	T	6: 116,582,544	M134K	probably damaging	Het
Olfr293	T	C	7: 86,664,529	F289S	probably damaging	Het
Olfr539	C	T	7: 140,667,550	P81S	probably damaging	Het
Olfr739	A	T	14: 50,424,932	M138L	possibly damaging	Het
Osmr	T	C	15: 6,815,897	D796G	possibly damaging	Het
Peli2	A	T	14: 48,240,297	T99S	probably benign	Het
Pi4k2a	A	T	19: 42,113,071	K317N	probably benign	Het
Pik3r1	T	G	13: 101,757,529	D44A	probably benign	Het
Pkhd1	G	T	1: 20,608,416	S96*	probably null	Het
Plekha5	A	G	6: 140,544,178	E9G	probably damaging	Het
Plekha8	T	C	6: 54,615,269	F71S	probably damaging	Het
Polq	G	T	16: 37,086,566	L2296F	probably damaging	Het
Rbm5	G	A	9: 107,754,185		probably benign	Het
Scrib	A	G	15: 76,065,207	L350P	probably damaging	Het
Slc4a10	T	A	2: 62,268,143	S540R	probably damaging	Het
Smc3	G	T	19: 53,623,557	V354L	probably benign	Het
Smurf1	T	A	5: 144,899,389	I105F	probably damaging	Het
Stx7	G	T	10: 24,155,349	R17L	probably benign	Het
Tbca	C	T	13: 94,842,695	R74C	probably benign	Het
Tmem92	T	C	11: 94,778,678	Q153R	possibly damaging	Het
Trim41	C	A	11: 48,807,480	G553V	probably damaging	Het
Trim75	A	T	8: 64,982,765	N344K	possibly damaging	Het
Tsr1	A	G	11: 74,900,249	D218G	probably benign	Het
Ubr2	A	C	17: 46,975,951	V474G	probably damaging	Het
Unc45a	T	G	7: 80,332,973		probably benign	Het
Zfp609	C	T	9: 65,703,393	A763T	probably benign	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
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

2015-12-18