Mutagenetix > Incidental Mutation

Incidental Mutation 'R8226:Rc3h2'

636966

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

MMRRC Submission

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8226 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

37370069-37422903 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 37376989 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Phenylalanine at position 1040 (Y1040F)

Ref Sequence

ENSEMBL: ENSMUSP00000097721 (fasta)

Gene Model

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

AlphaFold

P0C090

Predicted Effect

possibly damaging
Transcript: ENSMUST00000100143
AA Change: Y1040F

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

SMART Domains

Protein: ENSMUSP00000097721
Gene: ENSMUSG00000075376
AA Change: Y1040F

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: Y1040F

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

SMART Domains

Protein: ENSMUSP00000108556
Gene: ENSMUSG00000075376
AA Change: Y1040F

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: Y1040F

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

SMART Domains

Protein: ENSMUSP00000108558
Gene: ENSMUSG00000075376
AA Change: Y1040F

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

Coding Region Coverage

1x: 99.9%
3x: 99.8%
10x: 99.2%
20x: 97.7%

Validation Efficiency

100% (54/54)

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: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9330159F19Rik	A	G	10: 29,218,199	N27S	probably damaging	Het
Abcb1b	T	A	5: 8,821,390	Y315N	probably damaging	Het
Acy1	A	G	9: 106,437,658	I22T	probably damaging	Het
Akap11	G	A	14: 78,511,209	T1246M		Het
Akr1b3	G	C	6: 34,311,932	T114R	probably damaging	Het
Apob	G	A	12: 8,009,056	V2513I	probably benign	Het
Arhgap21	C	T	2: 20,871,745	D820N	probably damaging	Het
Arl2	A	T	19: 6,137,476		probably null	Het
BC080695	T	G	4: 143,571,960	Y158D	probably benign	Het
Bmp5	C	T	9: 75,776,324	P78S	probably damaging	Het
Cic	T	C	7: 25,287,788	C1374R	probably damaging	Het
Dennd5b	T	C	6: 149,014,248		probably null	Het
Dhx36	A	G	3: 62,470,570	Y1000H	probably benign	Het
Dnah14	A	G	1: 181,795,545	E3996G	possibly damaging	Het
Efcab6	T	C	15: 83,904,255	Y946C	probably benign	Het
Egfem1	A	G	3: 29,657,255	K328E	probably damaging	Het
F5	T	C	1: 164,194,390	V1478A	probably benign	Het
Fchsd2	C	T	7: 101,282,472	P745L	probably damaging	Het
Gm15448	A	C	7: 3,825,110	L66R		Het
Gm9573	T	C	17: 35,619,707		probably benign	Het
Grb10	G	T	11: 11,951,533	L214M	probably damaging	Het
H6pd	A	G	4: 149,995,989	V133A	probably benign	Het
Irak4	T	A	15: 94,558,363	L277Q	probably damaging	Het
Krt78	A	T	15: 101,947,045	M777K	possibly damaging	Het
Lrch4	A	G	5: 137,639,735	H93R		Het
Lrrc38	G	A	4: 143,350,733	G189R	probably damaging	Het
Mga	A	G	2: 119,960,385	I2251V	probably benign	Het
Mtx3	A	G	13: 92,847,707	E164G	possibly damaging	Het
Nbeal1	A	T	1: 60,277,177	K1846N	probably damaging	Het
Nedd1	T	A	10: 92,691,935	M466L	probably benign	Het
Nr4a3	A	T	4: 48,056,588	K380M	probably damaging	Het
Nup107	T	C	10: 117,757,931	K786E	probably benign	Het
Olfr1024	T	C	2: 85,904,203	I284V	probably benign	Het
Olfr110	A	T	17: 37,498,669	Q6L	probably benign	Het
Olfr560	T	C	7: 102,753,743	Y62C	probably benign	Het
Olfr995	T	A	2: 85,438,637	I174F	probably damaging	Het
Pkhd1l1	A	G	15: 44,574,407	N3533D	possibly damaging	Het
Plpp1	A	T	13: 112,866,931	T230S	probably benign	Het
Plxnc1	A	C	10: 94,833,368	D1063E	possibly damaging	Het
Prokr2	C	A	2: 132,374,041	A167S	probably damaging	Het
Qser1	C	T	2: 104,788,725	A491T	probably benign	Het
Rgl2	C	T	17: 33,932,527	L182F	possibly damaging	Het
Rnf130	T	C	11: 50,071,270	V181A	probably benign	Het
Scd4	A	G	19: 44,334,133	D55G	probably benign	Het
Scn7a	T	G	2: 66,700,860	I558L	possibly damaging	Het
Serpinb7	G	A	1: 107,448,250		probably null	Het
Shtn1	T	C	19: 59,003,896	I417V	possibly damaging	Het
Svs3b	T	A	2: 164,256,220	E60D	possibly damaging	Het
Tex14	T	C	11: 87,484,759	I116T	probably damaging	Het
Trak1	C	T	9: 121,451,727	T394I	probably benign	Het
Trhde	C	T	10: 114,567,228	V497M	probably damaging	Het
Trpc2	A	G	7: 102,088,275	M425V	possibly damaging	Het
Trpm2	C	T	10: 77,947,973	R222Q	probably damaging	Het
Tuba1b	C	T	15: 98,931,710	G410S	probably benign	Het
Usp28	T	G	9: 49,015,397		probably null	Het
Vps13d	T	C	4: 145,149,290	Y1555C		Het
Wdr17	T	A	8: 54,693,120	N106Y	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
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
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'- AGCAACTGGTCATTTTGAGAAC -3'
(R):5'- GGAATTCCCTGGATGAAGGC -3'

Sequencing Primer
(F):5'- GAGAACTGATACCAAGTTGTATGTCC -3'
(R):5'- AGGCCGTCACCTTACTTTAAATC -3'

Posted On

2020-07-13