Incidental Mutation 'R6455:Rc3h2'
| ID |
519520 |
| 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 |
| MMRRC Submission |
044591-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R6455 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
37260081-37312915 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 37299482 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Alanine to Serine
at position 183
(A183S)
|
| 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: A183S
PolyPhen 2
Score 0.875 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000097721
Gene: ENSMUSG00000075376
AA Change: A183S
| 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: A183S
PolyPhen 2
Score 0.875 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000108556
Gene: ENSMUSG00000075376
AA Change: A183S
| 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: A183S
PolyPhen 2
Score 0.875 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000108558
Gene: ENSMUSG00000075376
AA Change: A183S
| 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: A183S
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000145082
Gene: ENSMUSG00000075376
AA Change: A183S
| 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: ENSMUST00000204690
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.5%
- 10x: 97.6%
- 20x: 92.7%
|
| Validation Efficiency |
96% (70/73) |
| 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: 72 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca1 |
T |
C |
4: 53,042,376 (GRCm39) |
R1899G |
probably damaging |
Het |
| Abca6 |
C |
T |
11: 110,132,407 (GRCm39) |
G296D |
probably damaging |
Het |
| Abcb5 |
A |
T |
12: 118,854,284 (GRCm39) |
|
probably null |
Het |
| Adam28 |
T |
G |
14: 68,870,657 (GRCm39) |
T339P |
probably damaging |
Het |
| Adam34l |
T |
A |
8: 44,079,189 (GRCm39) |
H345L |
probably damaging |
Het |
| Adcy10 |
C |
G |
1: 165,345,943 (GRCm39) |
Q331E |
probably damaging |
Het |
| Aldh1a2 |
A |
T |
9: 71,160,196 (GRCm39) |
|
probably null |
Het |
| Alms1 |
T |
A |
6: 85,673,639 (GRCm39) |
I3078N |
probably damaging |
Het |
| Amtn |
A |
T |
5: 88,528,139 (GRCm39) |
N71Y |
probably damaging |
Het |
| Arhgef18 |
A |
T |
8: 3,438,753 (GRCm39) |
Y370F |
probably benign |
Het |
| Arid4a |
T |
C |
12: 71,121,862 (GRCm39) |
S748P |
probably benign |
Het |
| Atp2b1 |
C |
A |
10: 98,852,842 (GRCm39) |
Q108K |
possibly damaging |
Het |
| Bcdin3d |
T |
C |
15: 99,368,830 (GRCm39) |
D123G |
probably benign |
Het |
| Capn15 |
A |
G |
17: 26,184,410 (GRCm39) |
S24P |
probably damaging |
Het |
| Cc2d2a |
T |
A |
5: 43,896,754 (GRCm39) |
S1550R |
possibly damaging |
Het |
| Ccdc7a |
C |
T |
8: 129,559,091 (GRCm39) |
V1174M |
probably damaging |
Het |
| Cd22 |
T |
A |
7: 30,575,578 (GRCm39) |
I155F |
probably damaging |
Het |
| Ceacam3 |
T |
C |
7: 16,895,863 (GRCm39) |
I611T |
possibly damaging |
Het |
| Chrna1 |
C |
T |
2: 73,397,180 (GRCm39) |
D370N |
possibly damaging |
Het |
| Dlg2 |
C |
A |
7: 92,093,716 (GRCm39) |
|
probably null |
Het |
| Dll4 |
A |
T |
2: 119,164,276 (GRCm39) |
|
probably null |
Het |
| Eif5b |
T |
C |
1: 38,058,108 (GRCm39) |
S137P |
probably benign |
Het |
| Epn2 |
A |
T |
11: 61,424,467 (GRCm39) |
M250K |
probably damaging |
Het |
| Fat2 |
T |
A |
11: 55,161,283 (GRCm39) |
Q3149L |
probably damaging |
Het |
| Fbxl13 |
G |
A |
5: 21,761,812 (GRCm39) |
S341F |
probably benign |
Het |
| Gm5141 |
A |
T |
13: 62,922,597 (GRCm39) |
C191S |
probably damaging |
Het |
| Gm5150 |
C |
T |
3: 16,044,815 (GRCm39) |
G137S |
probably damaging |
Het |
| Gpr75 |
C |
T |
11: 30,841,529 (GRCm39) |
R145W |
probably damaging |
Het |
| Heatr5b |
G |
A |
17: 79,060,502 (GRCm39) |
H2058Y |
probably benign |
Het |
| Ina |
G |
A |
19: 47,012,000 (GRCm39) |
E473K |
probably benign |
Het |
| Irx6 |
T |
C |
8: 93,402,700 (GRCm39) |
S22P |
probably benign |
Het |
| Itpr1 |
T |
A |
6: 108,394,933 (GRCm39) |
M32K |
probably damaging |
Het |
| Jmjd1c |
T |
A |
10: 67,061,795 (GRCm39) |
S1383T |
probably benign |
Het |
| Lclat1 |
T |
A |
17: 73,468,828 (GRCm39) |
S3T |
probably damaging |
Het |
| Llgl1 |
G |
A |
11: 60,600,486 (GRCm39) |
V612M |
probably damaging |
Het |
| Mios |
A |
G |
6: 8,231,239 (GRCm39) |
R708G |
probably benign |
Het |
| Mphosph8 |
T |
C |
14: 56,925,943 (GRCm39) |
L636P |
probably damaging |
Het |
| Mrgpra2b |
T |
A |
7: 47,113,893 (GRCm39) |
N254Y |
probably damaging |
Het |
| Myo7a |
C |
T |
7: 97,722,374 (GRCm39) |
V1184M |
probably benign |
Het |
| Myog |
G |
A |
1: 134,218,226 (GRCm39) |
D145N |
probably benign |
Het |
| Nat10 |
T |
A |
2: 103,570,231 (GRCm39) |
I371F |
possibly damaging |
Het |
| Neb |
A |
T |
2: 52,057,656 (GRCm39) |
Y229* |
probably null |
Het |
| Nlrp6 |
T |
A |
7: 140,507,422 (GRCm39) |
I896K |
possibly damaging |
Het |
| Or11g7 |
A |
T |
14: 50,691,042 (GRCm39) |
I178L |
possibly damaging |
Het |
| Or52p2 |
G |
A |
7: 102,237,878 (GRCm39) |
A24V |
probably benign |
Het |
| Or5an11 |
T |
C |
19: 12,246,070 (GRCm39) |
S159P |
probably damaging |
Het |
| Pate5 |
T |
A |
9: 35,755,351 (GRCm39) |
K3* |
probably null |
Het |
| Pcdhgc5 |
A |
C |
18: 37,954,301 (GRCm39) |
E525A |
probably damaging |
Het |
| Pira1 |
T |
A |
7: 3,741,930 (GRCm39) |
Y150F |
probably benign |
Het |
| Pkd2 |
C |
A |
5: 104,607,790 (GRCm39) |
D96E |
probably benign |
Het |
| Prtg |
A |
G |
9: 72,815,138 (GRCm39) |
D1022G |
probably damaging |
Het |
| Ptpn13 |
T |
C |
5: 103,689,150 (GRCm39) |
M981T |
probably benign |
Het |
| Rorb |
A |
T |
19: 18,937,856 (GRCm39) |
I270N |
probably damaging |
Het |
| Rpgrip1 |
C |
T |
14: 52,378,646 (GRCm39) |
R524W |
probably damaging |
Het |
| Slc25a10 |
T |
C |
11: 120,386,031 (GRCm39) |
V124A |
probably damaging |
Het |
| Slc40a1 |
T |
A |
1: 45,958,107 (GRCm39) |
I109F |
probably damaging |
Het |
| Spen |
G |
A |
4: 141,202,820 (GRCm39) |
R1936W |
probably damaging |
Het |
| St6gal2 |
T |
A |
17: 55,789,514 (GRCm39) |
Y183N |
probably benign |
Het |
| Svil |
A |
G |
18: 5,056,629 (GRCm39) |
K588E |
possibly damaging |
Het |
| Tas2r122 |
C |
T |
6: 132,688,626 (GRCm39) |
W89* |
probably null |
Het |
| Tbxas1 |
T |
A |
6: 38,929,079 (GRCm39) |
|
probably benign |
Het |
| Tia1 |
T |
A |
6: 86,397,360 (GRCm39) |
I111N |
probably damaging |
Het |
| Tlr9 |
T |
A |
9: 106,101,198 (GRCm39) |
L163H |
probably damaging |
Het |
| Tnn |
C |
T |
1: 159,942,289 (GRCm39) |
V806M |
probably damaging |
Het |
| Traf5 |
G |
A |
1: 191,731,887 (GRCm39) |
A318V |
probably benign |
Het |
| Ttc3 |
T |
A |
16: 94,219,482 (GRCm39) |
M1K |
probably null |
Het |
| Utp25 |
G |
T |
1: 192,810,684 (GRCm39) |
D106E |
probably benign |
Het |
| Vmn1r192 |
T |
A |
13: 22,372,000 (GRCm39) |
R73S |
probably benign |
Het |
| Vmn1r71 |
T |
C |
7: 10,482,331 (GRCm39) |
Y53C |
probably benign |
Het |
| Vmn2r34 |
T |
A |
7: 7,686,582 (GRCm39) |
N372Y |
probably damaging |
Het |
| Wbp2 |
A |
T |
11: 115,970,579 (GRCm39) |
S229R |
probably damaging |
Het |
| Wdr18 |
C |
T |
10: 79,801,115 (GRCm39) |
T176I |
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 |
|
|
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 |
|
|
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 |
|
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'- TGAGAAATTTCTTCCAAAGCACTGG -3'
(R):5'- GTTTGAACCAGAGTGCCCTG -3'
Sequencing Primer
(F):5'- CACTGGCTATAAGAATAGACTGATTC -3'
(R):5'- CTGAGCCGTCCAATGCAAAGG -3'
|
| Posted On |
2018-05-24 |
Incidental Mutation