Incidental Mutation 'R4441:Rc3h2'
ID |
329749 |
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 |
041706-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R4441 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
2 |
Chromosomal Location |
37260081-37312915 bp(-) (GRCm39) |
Type of Mutation |
critical splice donor site (2 bp from exon) |
DNA Base Change (assembly) |
A to G
at 37304526 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000108558
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000100143]
[ENSMUST00000100143]
[ENSMUST00000112934]
[ENSMUST00000112934]
[ENSMUST00000112936]
[ENSMUST00000112936]
[ENSMUST00000125619]
|
AlphaFold |
P0C090 |
Predicted Effect |
probably null
Transcript: ENSMUST00000100143
|
SMART Domains |
Protein: ENSMUSP00000097721 Gene: ENSMUSG00000075376
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 null
Transcript: ENSMUST00000100143
|
SMART Domains |
Protein: ENSMUSP00000097721 Gene: ENSMUSG00000075376
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 null
Transcript: ENSMUST00000112934
|
SMART Domains |
Protein: ENSMUSP00000108556 Gene: ENSMUSG00000075376
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 null
Transcript: ENSMUST00000112934
|
SMART Domains |
Protein: ENSMUSP00000108556 Gene: ENSMUSG00000075376
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 null
Transcript: ENSMUST00000112936
|
SMART Domains |
Protein: ENSMUSP00000108558 Gene: ENSMUSG00000075376
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 null
Transcript: ENSMUST00000112936
|
SMART Domains |
Protein: ENSMUSP00000108558 Gene: ENSMUSG00000075376
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 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: ENSMUST00000204690
|
Meta Mutation Damage Score |
0.9499 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 97.1%
- 20x: 94.8%
|
Validation Efficiency |
96% (53/55) |
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: 44 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca16 |
A |
T |
7: 120,127,024 (GRCm39) |
R1238S |
probably benign |
Het |
Ankmy1 |
A |
T |
1: 92,816,383 (GRCm39) |
Y244N |
possibly damaging |
Het |
Asxl3 |
C |
T |
18: 22,657,290 (GRCm39) |
P1767S |
probably damaging |
Het |
C1qtnf7 |
A |
T |
5: 43,766,612 (GRCm39) |
K70N |
possibly damaging |
Het |
Cibar1 |
A |
G |
4: 12,157,733 (GRCm39) |
M261T |
probably damaging |
Het |
Fam78b |
C |
A |
1: 166,906,491 (GRCm39) |
Q217K |
probably damaging |
Het |
Garem1 |
T |
C |
18: 21,301,807 (GRCm39) |
T127A |
possibly damaging |
Het |
Gls |
A |
T |
1: 52,235,322 (GRCm39) |
|
probably null |
Het |
Gm12790 |
A |
C |
4: 101,825,337 (GRCm39) |
S26A |
probably damaging |
Het |
Gm136 |
T |
C |
4: 34,755,911 (GRCm39) |
D34G |
probably benign |
Het |
Gmds |
A |
G |
13: 32,124,461 (GRCm39) |
|
probably null |
Het |
Hdac9 |
G |
T |
12: 34,439,375 (GRCm39) |
H401N |
probably damaging |
Het |
Hmcn1 |
T |
C |
1: 150,533,210 (GRCm39) |
I3026V |
probably null |
Het |
Igkv6-20 |
A |
T |
6: 70,313,101 (GRCm39) |
M24K |
probably damaging |
Het |
Ilf2 |
T |
C |
3: 90,394,769 (GRCm39) |
L339P |
probably benign |
Het |
Insr |
T |
A |
8: 3,244,902 (GRCm39) |
K501N |
probably benign |
Het |
Lyst |
G |
A |
13: 13,809,968 (GRCm39) |
R546H |
probably damaging |
Het |
Mcm5 |
T |
C |
8: 75,839,172 (GRCm39) |
S142P |
probably benign |
Het |
Mcpt9 |
A |
G |
14: 56,265,009 (GRCm39) |
V164A |
probably damaging |
Het |
Ncapd3 |
T |
A |
9: 26,962,941 (GRCm39) |
D415E |
possibly damaging |
Het |
Nfia |
T |
C |
4: 97,661,150 (GRCm39) |
|
probably null |
Het |
Nipbl |
G |
C |
15: 8,396,142 (GRCm39) |
Q144E |
probably damaging |
Het |
Or51g1 |
A |
T |
7: 102,633,516 (GRCm39) |
V285E |
possibly damaging |
Het |
Or51q1c |
T |
G |
7: 103,653,279 (GRCm39) |
F266V |
probably damaging |
Het |
Or6z5 |
T |
C |
7: 6,477,924 (GRCm39) |
S272P |
probably benign |
Het |
Pcdhgb8 |
A |
G |
18: 37,896,114 (GRCm39) |
I395V |
possibly damaging |
Het |
Plcz1 |
T |
A |
6: 139,936,413 (GRCm39) |
L605F |
probably benign |
Het |
Prph |
G |
A |
15: 98,955,005 (GRCm39) |
S325N |
probably damaging |
Het |
Ptpn23 |
A |
G |
9: 110,221,793 (GRCm39) |
M131T |
probably benign |
Het |
Rab3ip |
T |
G |
10: 116,751,837 (GRCm39) |
D278A |
probably benign |
Het |
Rasgrf2 |
T |
C |
13: 92,131,797 (GRCm39) |
D620G |
possibly damaging |
Het |
Rbm5 |
A |
G |
9: 107,626,887 (GRCm39) |
|
probably benign |
Het |
Saxo5 |
C |
T |
8: 3,526,105 (GRCm39) |
S86L |
probably damaging |
Het |
Tbxa2r |
T |
C |
10: 81,168,925 (GRCm39) |
S205P |
probably damaging |
Het |
Tenm4 |
A |
G |
7: 96,545,022 (GRCm39) |
N2375S |
probably benign |
Het |
Tespa1 |
C |
T |
10: 130,197,826 (GRCm39) |
R283C |
probably damaging |
Het |
Tle2 |
A |
G |
10: 81,417,516 (GRCm39) |
E227G |
possibly damaging |
Het |
Tnik |
A |
G |
3: 28,618,246 (GRCm39) |
I266V |
possibly damaging |
Het |
Tnn |
T |
G |
1: 159,943,650 (GRCm39) |
E1054D |
probably benign |
Het |
Tns2 |
C |
T |
15: 102,017,369 (GRCm39) |
R281C |
probably damaging |
Het |
Trpm1 |
A |
G |
7: 63,851,666 (GRCm39) |
D12G |
probably damaging |
Het |
Vrk3 |
C |
T |
7: 44,424,866 (GRCm39) |
T427M |
probably benign |
Het |
Wdr7 |
T |
A |
18: 63,888,281 (GRCm39) |
Y585N |
probably damaging |
Het |
Zgrf1 |
T |
A |
3: 127,379,786 (GRCm39) |
N223K |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- GCTTTGGTATTGAAGCCAGAAC -3'
(R):5'- AGAGTTTCTGTCCTGTCCAATCTG -3'
Sequencing Primer
(F):5'- AACTGTAATGGGATTCATTATTTTGC -3'
(R):5'- TGTCCTGTCCAATCTGCTATAATG -3'
|
Posted On |
2015-07-21 |