Incidental Mutation 'R4932:Rc3h2'
ID |
380603 |
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 |
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R4932 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
2 |
Chromosomal Location |
37260081-37312915 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 37279844 bp (GRCm39)
|
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 |
Abcf1 |
A |
T |
17: 36,270,342 (GRCm39) |
V616E |
possibly damaging |
Het |
Adam21 |
A |
G |
12: 81,605,692 (GRCm39) |
V690A |
probably benign |
Het |
Afg3l1 |
A |
T |
8: 124,228,119 (GRCm39) |
T635S |
probably damaging |
Het |
Ahcyl2 |
T |
A |
6: 29,890,700 (GRCm39) |
M390K |
probably benign |
Het |
Ank3 |
T |
A |
10: 69,734,053 (GRCm39) |
|
probably null |
Het |
Antkmt |
T |
G |
17: 26,010,652 (GRCm39) |
|
probably null |
Het |
Arhgef3 |
A |
T |
14: 27,106,170 (GRCm39) |
K151N |
probably damaging |
Het |
Ccr3 |
T |
G |
9: 123,829,043 (GRCm39) |
F126C |
probably damaging |
Het |
Ccser1 |
A |
G |
6: 61,695,175 (GRCm39) |
D170G |
possibly damaging |
Het |
Celsr2 |
T |
A |
3: 108,310,074 (GRCm39) |
D1552V |
probably damaging |
Het |
Cfap69 |
G |
A |
5: 5,675,820 (GRCm39) |
L265F |
probably damaging |
Het |
Chrna9 |
C |
T |
5: 66,126,533 (GRCm39) |
R92* |
probably null |
Het |
Cog3 |
A |
T |
14: 75,970,394 (GRCm39) |
V341D |
probably damaging |
Het |
Csmd1 |
C |
A |
8: 16,073,779 (GRCm39) |
R2072L |
probably damaging |
Het |
Dbf4 |
G |
T |
5: 8,448,039 (GRCm39) |
H390Q |
probably benign |
Het |
Dcaf4 |
T |
A |
12: 83,579,078 (GRCm39) |
C166S |
possibly damaging |
Het |
Dclk3 |
T |
A |
9: 111,297,110 (GRCm39) |
L218Q |
possibly damaging |
Het |
Dip2b |
T |
A |
15: 100,069,603 (GRCm39) |
W643R |
probably damaging |
Het |
Dip2c |
A |
G |
13: 9,674,008 (GRCm39) |
K1091E |
probably damaging |
Het |
Dis3 |
T |
A |
14: 99,326,340 (GRCm39) |
H415L |
probably damaging |
Het |
Dnah7a |
T |
A |
1: 53,542,737 (GRCm39) |
I2478F |
possibly damaging |
Het |
Dnah8 |
G |
A |
17: 30,967,542 (GRCm39) |
D2585N |
probably benign |
Het |
Doc2a |
T |
C |
7: 126,447,752 (GRCm39) |
|
probably benign |
Het |
Dph5 |
A |
T |
3: 115,693,456 (GRCm39) |
M125L |
probably benign |
Het |
Dst |
A |
T |
1: 34,267,764 (GRCm39) |
T5247S |
possibly damaging |
Het |
Eno4 |
T |
G |
19: 58,952,889 (GRCm39) |
V477G |
possibly damaging |
Het |
Exosc8 |
T |
C |
3: 54,636,711 (GRCm39) |
I207V |
possibly damaging |
Het |
Fat4 |
T |
A |
3: 39,061,352 (GRCm39) |
S4312T |
probably benign |
Het |
Fgfr2 |
T |
C |
7: 129,843,007 (GRCm39) |
D126G |
probably damaging |
Het |
Fgfr4 |
A |
G |
13: 55,315,983 (GRCm39) |
T799A |
unknown |
Het |
Gcn1 |
A |
T |
5: 115,730,203 (GRCm39) |
D839V |
probably benign |
Het |
Gprin3 |
A |
G |
6: 59,331,158 (GRCm39) |
V383A |
probably benign |
Het |
Gpt |
T |
C |
15: 76,583,040 (GRCm39) |
V361A |
probably benign |
Het |
Hepacam |
G |
A |
9: 37,293,060 (GRCm39) |
C217Y |
probably damaging |
Het |
Hsp90aa1 |
A |
T |
12: 110,660,151 (GRCm39) |
Y382N |
probably damaging |
Het |
Htr2a |
T |
A |
14: 74,879,462 (GRCm39) |
N30K |
probably benign |
Het |
Jhy |
A |
T |
9: 40,872,299 (GRCm39) |
M70K |
possibly damaging |
Het |
Lrrc19 |
T |
C |
4: 94,529,174 (GRCm39) |
Y36C |
probably damaging |
Het |
Madcam1 |
C |
T |
10: 79,501,447 (GRCm39) |
Q171* |
probably null |
Het |
Mcm8 |
G |
A |
2: 132,680,629 (GRCm39) |
M544I |
probably benign |
Het |
Mdga1 |
C |
T |
17: 30,076,580 (GRCm39) |
G64E |
probably damaging |
Het |
Mmp3 |
A |
G |
9: 7,446,994 (GRCm39) |
D58G |
probably benign |
Het |
Ms4a10 |
T |
C |
19: 10,942,132 (GRCm39) |
Y123C |
probably damaging |
Het |
Ms4a4d |
T |
A |
19: 11,535,296 (GRCm39) |
I198K |
probably benign |
Het |
Mthfd1l |
A |
T |
10: 3,930,241 (GRCm39) |
D112V |
probably benign |
Het |
N4bp2l2 |
A |
C |
5: 150,566,606 (GRCm39) |
S567R |
probably benign |
Het |
Ndufaf2 |
A |
G |
13: 108,295,010 (GRCm39) |
Y32H |
probably damaging |
Het |
Nup153 |
T |
A |
13: 46,866,213 (GRCm39) |
K182* |
probably null |
Het |
Or4c100 |
A |
G |
2: 88,356,079 (GRCm39) |
T51A |
probably benign |
Het |
Or52p2 |
A |
G |
7: 102,237,623 (GRCm39) |
F109S |
probably damaging |
Het |
Or5p4 |
T |
A |
7: 107,680,781 (GRCm39) |
V260E |
probably damaging |
Het |
Otoa |
T |
C |
7: 120,754,358 (GRCm39) |
S928P |
probably damaging |
Het |
Oxct2a |
T |
C |
4: 123,216,496 (GRCm39) |
D295G |
probably benign |
Het |
P4ha2 |
C |
A |
11: 54,015,846 (GRCm39) |
T411K |
probably benign |
Het |
Plcg2 |
A |
T |
8: 118,333,822 (GRCm39) |
Q865L |
probably benign |
Het |
Prepl |
G |
T |
17: 85,385,932 (GRCm39) |
T244K |
possibly damaging |
Het |
Ptpro |
A |
T |
6: 137,388,103 (GRCm39) |
K776* |
probably null |
Het |
Scn10a |
A |
G |
9: 119,516,940 (GRCm39) |
|
probably null |
Het |
Serpinb1c |
A |
G |
13: 33,066,147 (GRCm39) |
V266A |
probably damaging |
Het |
Slc6a20b |
T |
A |
9: 123,433,861 (GRCm39) |
N326Y |
probably damaging |
Het |
Spcs2 |
C |
T |
7: 99,508,038 (GRCm39) |
G16D |
possibly damaging |
Het |
Spns3 |
T |
C |
11: 72,390,321 (GRCm39) |
D441G |
possibly damaging |
Het |
Srsf4 |
A |
G |
4: 131,618,556 (GRCm39) |
D49G |
probably damaging |
Het |
Tec |
A |
T |
5: 72,917,736 (GRCm39) |
C494* |
probably null |
Het |
Tecpr1 |
A |
T |
5: 144,141,476 (GRCm39) |
Y798N |
probably damaging |
Het |
Tex56 |
A |
T |
13: 35,116,613 (GRCm39) |
T121S |
possibly damaging |
Het |
Tmt1a |
T |
A |
15: 100,202,987 (GRCm39) |
F87Y |
probably benign |
Het |
Trim56 |
C |
T |
5: 137,143,343 (GRCm39) |
E58K |
probably damaging |
Het |
Ttn |
A |
T |
2: 76,626,478 (GRCm39) |
D13146E |
probably damaging |
Het |
Ube2q1 |
A |
T |
3: 89,686,790 (GRCm39) |
K46* |
probably null |
Het |
Ucn |
G |
T |
5: 31,295,842 (GRCm39) |
T8K |
probably benign |
Het |
Usp25 |
T |
C |
16: 76,830,870 (GRCm39) |
|
probably null |
Het |
Usp48 |
A |
T |
4: 137,343,144 (GRCm39) |
Q430L |
probably benign |
Het |
Usp48 |
A |
T |
4: 137,343,145 (GRCm39) |
|
probably null |
Het |
Vill |
A |
T |
9: 118,890,579 (GRCm39) |
D164V |
probably damaging |
Het |
Vmn2r91 |
T |
A |
17: 18,356,751 (GRCm39) |
M806K |
possibly damaging |
Het |
Wdfy4 |
T |
A |
14: 32,750,970 (GRCm39) |
Y2256F |
probably damaging |
Het |
Wsb1 |
A |
G |
11: 79,141,826 (GRCm39) |
S64P |
probably damaging |
Het |
Zc3h11a |
C |
A |
1: 133,552,350 (GRCm39) |
V586F |
probably benign |
Het |
Zc3h12d |
A |
G |
10: 7,729,014 (GRCm39) |
D126G |
probably damaging |
Het |
Zfp296 |
G |
T |
7: 19,313,637 (GRCm39) |
C164F |
possibly damaging |
Het |
Zfp442 |
T |
A |
2: 150,251,635 (GRCm39) |
H89L |
possibly damaging |
Het |
Zfp82 |
T |
A |
7: 29,756,312 (GRCm39) |
|
probably null |
Het |
Zmynd8 |
A |
G |
2: 165,676,871 (GRCm39) |
V249A |
possibly damaging |
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 |
R0506:Rc3h2
|
UTSW |
2 |
37,266,671 (GRCm39) |
critical splice donor site |
probably null |
|
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 |
|
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 |
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 |