Incidental Mutation 'IGL02123:Rc3h2'
ID |
280704 |
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 |
D930043C02Rik, Mnab, 2900024N03Rik, Rnf164, 9430019J22Rik |
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
IGL02123
|
Quality Score |
|
Status
|
|
Chromosome |
2 |
Chromosomal Location |
37260081-37312915 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 37288265 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamic Acid to Glycine
at position 439
(E439G)
|
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: E439G
PolyPhen 2
Score 0.883 (Sensitivity: 0.82; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000097721 Gene: ENSMUSG00000075376 AA Change: E439G
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: ENSMUST00000104568
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000112934
AA Change: E439G
PolyPhen 2
Score 0.883 (Sensitivity: 0.82; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000108556 Gene: ENSMUSG00000075376 AA Change: E439G
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: E439G
PolyPhen 2
Score 0.883 (Sensitivity: 0.82; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000108558 Gene: ENSMUSG00000075376 AA Change: E439G
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 damaging
Transcript: ENSMUST00000125619
AA Change: E439G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000145082 Gene: ENSMUSG00000075376 AA Change: E439G
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: ENSMUST00000204962
|
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: 51 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acp7 |
T |
C |
7: 28,328,914 (GRCm39) |
T31A |
probably benign |
Het |
Aldh16a1 |
G |
A |
7: 44,795,459 (GRCm39) |
P400L |
probably damaging |
Het |
Ampd3 |
T |
C |
7: 110,401,766 (GRCm39) |
V429A |
possibly damaging |
Het |
Brd8 |
C |
T |
18: 34,735,780 (GRCm39) |
S899N |
probably damaging |
Het |
Cldn11 |
C |
T |
3: 31,204,336 (GRCm39) |
T13M |
probably benign |
Het |
Cngb3 |
C |
A |
4: 19,367,801 (GRCm39) |
Q237K |
probably damaging |
Het |
Col12a1 |
A |
G |
9: 79,569,740 (GRCm39) |
|
probably null |
Het |
Copa |
T |
A |
1: 171,939,695 (GRCm39) |
L621H |
probably damaging |
Het |
Dbn1 |
T |
C |
13: 55,624,553 (GRCm39) |
D332G |
possibly damaging |
Het |
Drc1 |
T |
C |
5: 30,504,448 (GRCm39) |
S197P |
probably benign |
Het |
E2f2 |
A |
G |
4: 135,900,159 (GRCm39) |
N23S |
probably benign |
Het |
Epb41l2 |
T |
A |
10: 25,336,742 (GRCm39) |
L246H |
probably damaging |
Het |
Fam13b |
G |
A |
18: 34,578,671 (GRCm39) |
|
probably benign |
Het |
Fam184b |
A |
G |
5: 45,796,493 (GRCm39) |
M30T |
possibly damaging |
Het |
Fn3krp |
G |
A |
11: 121,320,270 (GRCm39) |
R205H |
probably benign |
Het |
Fndc11 |
A |
G |
2: 180,863,443 (GRCm39) |
I83V |
probably benign |
Het |
Garin2 |
T |
C |
12: 78,780,981 (GRCm39) |
|
probably null |
Het |
Gm3629 |
C |
T |
14: 17,834,541 (GRCm39) |
R150H |
probably benign |
Het |
Hs6st1 |
T |
A |
1: 36,142,952 (GRCm39) |
F296I |
possibly damaging |
Het |
Igsf10 |
T |
A |
3: 59,226,081 (GRCm39) |
I2531F |
probably damaging |
Het |
Klhl40 |
T |
C |
9: 121,608,989 (GRCm39) |
F385L |
probably benign |
Het |
Krt87 |
A |
T |
15: 101,385,466 (GRCm39) |
M302K |
possibly damaging |
Het |
Lrrc43 |
A |
T |
5: 123,632,342 (GRCm39) |
I162F |
probably damaging |
Het |
Map3k21 |
A |
G |
8: 126,652,849 (GRCm39) |
E325G |
probably damaging |
Het |
Mpo |
A |
T |
11: 87,685,621 (GRCm39) |
N33I |
probably benign |
Het |
Mpp4 |
A |
G |
1: 59,200,625 (GRCm39) |
|
probably null |
Het |
Muc5b |
C |
T |
7: 141,417,494 (GRCm39) |
T3480I |
possibly damaging |
Het |
Myo6 |
T |
C |
9: 80,171,554 (GRCm39) |
|
probably benign |
Het |
Nostrin |
C |
T |
2: 68,986,453 (GRCm39) |
|
probably benign |
Het |
Nphp1 |
T |
C |
2: 127,595,969 (GRCm39) |
M498V |
probably benign |
Het |
Nr4a2 |
A |
T |
2: 57,001,667 (GRCm39) |
L199Q |
possibly damaging |
Het |
Pcdhb6 |
A |
T |
18: 37,468,873 (GRCm39) |
N598I |
probably damaging |
Het |
Pex19 |
T |
A |
1: 171,961,853 (GRCm39) |
M207K |
probably damaging |
Het |
Pfkfb4 |
C |
T |
9: 108,854,178 (GRCm39) |
R351W |
probably damaging |
Het |
Plekha2 |
T |
C |
8: 25,532,745 (GRCm39) |
K409E |
probably damaging |
Het |
Plxna2 |
T |
C |
1: 194,476,691 (GRCm39) |
L1169P |
probably damaging |
Het |
Pmpcb |
A |
G |
5: 21,948,373 (GRCm39) |
|
probably benign |
Het |
Ptrh1 |
T |
C |
2: 32,666,826 (GRCm39) |
|
probably benign |
Het |
Ric1 |
C |
T |
19: 29,572,200 (GRCm39) |
A665V |
probably benign |
Het |
Stx18 |
T |
A |
5: 38,285,447 (GRCm39) |
V219D |
probably damaging |
Het |
Taf7 |
A |
T |
18: 37,775,533 (GRCm39) |
|
probably benign |
Het |
Tbc1d8 |
A |
G |
1: 39,415,988 (GRCm39) |
I895T |
possibly damaging |
Het |
Tbc1d8 |
A |
G |
1: 39,419,317 (GRCm39) |
S766P |
probably damaging |
Het |
Tekt3 |
C |
A |
11: 62,974,766 (GRCm39) |
H362N |
probably benign |
Het |
Tmem214 |
G |
A |
5: 31,030,090 (GRCm39) |
A296T |
probably benign |
Het |
Tmem94 |
T |
C |
11: 115,678,364 (GRCm39) |
S196P |
possibly damaging |
Het |
Vmn2r14 |
T |
C |
5: 109,367,933 (GRCm39) |
Y353C |
probably damaging |
Het |
Vmn2r9 |
G |
A |
5: 108,991,502 (GRCm39) |
L620F |
probably damaging |
Het |
Vmn2r90 |
T |
G |
17: 17,953,744 (GRCm39) |
M636R |
probably benign |
Het |
Vmn2r98 |
T |
A |
17: 19,300,941 (GRCm39) |
C648S |
probably damaging |
Het |
Zfpm2 |
G |
A |
15: 40,965,591 (GRCm39) |
C560Y |
probably 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 |
|
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 |
|
R4932:Rc3h2
|
UTSW |
2 |
37,279,844 (GRCm39) |
missense |
possibly damaging |
0.77 |
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 |
|
Posted On |
2015-04-16 |