Incidental Mutation 'R5935:Rc3h2'
ID |
462148 |
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 |
044129-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R5935 (G1)
|
Quality Score |
217 |
Status
|
Validated
|
Chromosome |
2 |
Chromosomal Location |
37260081-37312915 bp(-) (GRCm39) |
Type of Mutation |
frame shift |
DNA Base Change (assembly) |
GCC to GCCC
at 37304745 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000145082
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000100143]
[ENSMUST00000112934]
[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: 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 |
noncoding transcript
Transcript: ENSMUST00000124218
|
Predicted Effect |
probably null
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 |
0.9755 |
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.2%
- 20x: 94.8%
|
Validation Efficiency |
96% (92/96) |
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: 87 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adam26b |
C |
G |
8: 43,974,335 (GRCm39) |
M222I |
probably benign |
Het |
Ahnak |
T |
C |
19: 8,992,546 (GRCm39) |
V4610A |
possibly damaging |
Het |
Ankrd13c |
C |
T |
3: 157,653,220 (GRCm39) |
|
silent |
Het |
Cables2 |
A |
G |
2: 179,903,841 (GRCm39) |
|
probably benign |
Het |
Cabp2 |
C |
A |
19: 4,136,497 (GRCm39) |
A181D |
probably damaging |
Het |
Camsap3 |
A |
G |
8: 3,651,999 (GRCm39) |
D265G |
probably damaging |
Het |
Cbs |
G |
T |
17: 31,851,853 (GRCm39) |
T50N |
probably damaging |
Het |
Cenpa |
A |
T |
5: 30,830,381 (GRCm39) |
Q83L |
possibly damaging |
Het |
Cit |
A |
T |
5: 116,063,598 (GRCm39) |
|
probably benign |
Het |
Ckap5 |
A |
G |
2: 91,445,445 (GRCm39) |
E1694G |
possibly damaging |
Het |
Copz1 |
A |
T |
15: 103,203,197 (GRCm39) |
M104L |
probably benign |
Het |
Crot |
T |
A |
5: 9,024,192 (GRCm39) |
M335L |
probably benign |
Het |
Ctnna2 |
T |
C |
6: 77,120,904 (GRCm39) |
D373G |
probably benign |
Het |
Ctu2 |
G |
A |
8: 123,203,693 (GRCm39) |
|
probably benign |
Het |
Cyp3a59 |
T |
A |
5: 146,027,455 (GRCm39) |
Y75* |
probably null |
Het |
Dbi |
A |
G |
1: 120,048,583 (GRCm39) |
I21T |
probably benign |
Het |
Dcun1d3 |
A |
G |
7: 119,458,799 (GRCm39) |
S79P |
probably benign |
Het |
Dock10 |
T |
A |
1: 80,483,304 (GRCm39) |
|
probably benign |
Het |
Dstyk |
T |
A |
1: 132,381,875 (GRCm39) |
I543N |
probably damaging |
Het |
Epx |
G |
T |
11: 87,756,318 (GRCm39) |
A621E |
probably damaging |
Het |
Farp2 |
G |
A |
1: 93,548,367 (GRCm39) |
|
probably null |
Het |
Gm11992 |
C |
T |
11: 9,002,711 (GRCm39) |
P25S |
probably damaging |
Het |
Grik5 |
A |
T |
7: 24,758,502 (GRCm39) |
M307K |
possibly damaging |
Het |
Hnf1b |
A |
T |
11: 83,773,503 (GRCm39) |
N234I |
probably damaging |
Het |
Htr2a |
A |
G |
14: 74,882,530 (GRCm39) |
D172G |
probably damaging |
Het |
Ifit1bl2 |
T |
C |
19: 34,597,128 (GRCm39) |
T163A |
probably benign |
Het |
Igsf10 |
A |
T |
3: 59,235,578 (GRCm39) |
D1534E |
probably benign |
Het |
Il3ra |
T |
G |
14: 14,350,799 (GRCm38) |
V178G |
probably damaging |
Het |
Itgb1 |
A |
T |
8: 129,439,718 (GRCm39) |
K136* |
probably null |
Het |
Itprid1 |
A |
T |
6: 55,874,754 (GRCm39) |
R235* |
probably null |
Het |
Lama2 |
T |
A |
10: 26,891,494 (GRCm39) |
I2540F |
probably benign |
Het |
Lrp8 |
C |
A |
4: 107,714,493 (GRCm39) |
H622Q |
probably damaging |
Het |
Lrrc2 |
T |
A |
9: 110,795,629 (GRCm39) |
M138K |
probably benign |
Het |
Lrrk2 |
C |
A |
15: 91,630,034 (GRCm39) |
H1242N |
probably benign |
Het |
Lsm11 |
G |
C |
11: 45,835,445 (GRCm39) |
R99G |
probably benign |
Het |
Mif4gd |
C |
T |
11: 115,500,439 (GRCm39) |
V40M |
probably benign |
Het |
Mpp3 |
A |
T |
11: 101,916,241 (GRCm39) |
V37D |
probably damaging |
Het |
Mre11a |
T |
A |
9: 14,698,258 (GRCm39) |
D35E |
probably damaging |
Het |
Mroh4 |
C |
A |
15: 74,493,003 (GRCm39) |
V233F |
probably damaging |
Het |
Npy2r |
A |
T |
3: 82,448,068 (GRCm39) |
S123T |
possibly damaging |
Het |
Nrip2 |
A |
G |
6: 128,385,361 (GRCm39) |
Y264C |
possibly damaging |
Het |
Obscn |
A |
G |
11: 58,897,639 (GRCm39) |
S6639P |
unknown |
Het |
Or10d4 |
C |
T |
9: 39,580,386 (GRCm39) |
T11I |
probably benign |
Het |
Or51t4 |
T |
A |
7: 102,598,017 (GRCm39) |
F105Y |
probably benign |
Het |
Osbpl5 |
C |
T |
7: 143,310,695 (GRCm39) |
|
probably benign |
Het |
Panx1 |
A |
T |
9: 14,921,513 (GRCm39) |
Y121N |
probably damaging |
Het |
Pcdhb8 |
A |
G |
18: 37,489,243 (GRCm39) |
D307G |
probably damaging |
Het |
Pde1b |
A |
G |
15: 103,429,866 (GRCm39) |
K120E |
possibly damaging |
Het |
Pdzrn4 |
T |
C |
15: 92,295,255 (GRCm39) |
S154P |
probably benign |
Het |
Ppp1r13b |
T |
C |
12: 111,796,876 (GRCm39) |
K889R |
probably benign |
Het |
Ppp4r3a |
T |
A |
12: 101,017,872 (GRCm39) |
D439V |
probably damaging |
Het |
Ptk2b |
A |
G |
14: 66,411,328 (GRCm39) |
I401T |
probably damaging |
Het |
Rab24 |
T |
C |
13: 55,468,343 (GRCm39) |
T153A |
probably damaging |
Het |
Rarb |
C |
A |
14: 16,434,264 (GRCm38) |
A305S |
probably damaging |
Het |
Scn10a |
G |
A |
9: 119,456,237 (GRCm39) |
T1194I |
probably damaging |
Het |
Scn3a |
G |
T |
2: 65,295,180 (GRCm39) |
N1514K |
probably damaging |
Het |
Serpinb3d |
T |
C |
1: 107,011,105 (GRCm39) |
T36A |
probably benign |
Het |
Shisa5 |
T |
A |
9: 108,885,751 (GRCm39) |
M229K |
possibly damaging |
Het |
Sik2 |
C |
T |
9: 50,828,431 (GRCm39) |
G204R |
probably damaging |
Het |
Sla |
C |
T |
15: 66,665,554 (GRCm39) |
G46E |
probably damaging |
Het |
Slc35g3 |
A |
T |
11: 69,652,509 (GRCm39) |
M1K |
probably null |
Het |
Slc5a7 |
A |
T |
17: 54,583,972 (GRCm39) |
Y439* |
probably null |
Het |
Slc9a1 |
T |
C |
4: 133,147,176 (GRCm39) |
|
probably benign |
Het |
Slitrk6 |
T |
G |
14: 110,987,305 (GRCm39) |
T801P |
probably benign |
Het |
Spata31d1c |
T |
C |
13: 65,184,894 (GRCm39) |
V812A |
possibly damaging |
Het |
Spata31g1 |
T |
C |
4: 42,971,465 (GRCm39) |
L230P |
probably benign |
Het |
Spef1l |
G |
A |
7: 139,556,526 (GRCm39) |
H154Y |
probably benign |
Het |
Sphkap |
A |
C |
1: 83,317,320 (GRCm39) |
L59R |
probably damaging |
Het |
Spmip8 |
A |
T |
8: 96,046,620 (GRCm39) |
T98S |
possibly damaging |
Het |
Srsf10 |
C |
A |
4: 135,583,553 (GRCm39) |
R6S |
probably damaging |
Het |
Supt5 |
T |
A |
7: 28,028,900 (GRCm39) |
R131S |
probably benign |
Het |
Syne1 |
T |
C |
10: 5,310,706 (GRCm39) |
|
probably null |
Het |
Tet2 |
T |
A |
3: 133,194,296 (GRCm39) |
H46L |
possibly damaging |
Het |
Tnfsf4 |
T |
A |
1: 161,244,819 (GRCm39) |
N169K |
probably damaging |
Het |
Tprg1 |
A |
T |
16: 25,136,011 (GRCm39) |
M1L |
possibly damaging |
Het |
Tsen2 |
A |
G |
6: 115,536,556 (GRCm39) |
Y104C |
probably damaging |
Het |
Ttc6 |
A |
G |
12: 57,720,590 (GRCm39) |
Y952C |
probably damaging |
Het |
Umod |
A |
T |
7: 119,070,650 (GRCm39) |
I414N |
probably damaging |
Het |
Usp10 |
G |
T |
8: 120,673,828 (GRCm39) |
V398L |
possibly damaging |
Het |
Vmn2r23 |
A |
T |
6: 123,718,854 (GRCm39) |
I736F |
possibly damaging |
Het |
Vmn2r65 |
C |
A |
7: 84,592,869 (GRCm39) |
G446V |
probably benign |
Het |
Wbp1l |
C |
T |
19: 46,642,619 (GRCm39) |
R191* |
probably null |
Het |
Yars2 |
A |
G |
16: 16,127,335 (GRCm39) |
I467V |
probably benign |
Het |
Ykt6 |
A |
G |
11: 5,909,338 (GRCm39) |
E49G |
possibly damaging |
Het |
Zan |
T |
A |
5: 137,442,192 (GRCm39) |
M1907L |
unknown |
Het |
Zdhhc2 |
T |
C |
8: 40,917,277 (GRCm39) |
S225P |
probably damaging |
Het |
Zfc3h1 |
A |
T |
10: 115,267,262 (GRCm39) |
|
probably benign |
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 |
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'- CACATCAATGTCTGTGTTTATGGC -3'
(R):5'- GTCTCTGGGTAAATGTGCAAAATG -3'
Sequencing Primer
(F):5'- TTTATGGCAGTCTGGTCAAAAGGAC -3'
(R):5'- CTGGGTAAATGTGCAAAATGTAATTC -3'
|
Posted On |
2017-02-28 |