Incidental Mutation 'R2105:Rc3h2'
ID |
230835 |
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 |
040109-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R2105 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
2 |
Chromosomal Location |
37260081-37312915 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 37289636 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Lysine
at position 392
(I392K)
|
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: I392K
PolyPhen 2
Score 0.891 (Sensitivity: 0.82; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000097721 Gene: ENSMUSG00000075376 AA Change: I392K
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: I392K
PolyPhen 2
Score 0.891 (Sensitivity: 0.82; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000108556 Gene: ENSMUSG00000075376 AA Change: I392K
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: I392K
PolyPhen 2
Score 0.891 (Sensitivity: 0.82; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000108558 Gene: ENSMUSG00000075376 AA Change: I392K
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: ENSMUST00000125619
AA Change: I392K
PolyPhen 2
Score 0.882 (Sensitivity: 0.82; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000145082 Gene: ENSMUSG00000075376 AA Change: I392K
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 |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.4%
- 20x: 95.5%
|
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: 86 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
A2m |
C |
T |
6: 121,650,459 (GRCm39) |
P1189L |
probably benign |
Het |
Acbd4 |
G |
A |
11: 102,995,265 (GRCm39) |
D57N |
probably damaging |
Het |
Acot4 |
A |
T |
12: 84,085,516 (GRCm39) |
M78L |
probably damaging |
Het |
Ago1 |
A |
T |
4: 126,355,581 (GRCm39) |
M76K |
probably benign |
Het |
Agrn |
G |
T |
4: 156,261,756 (GRCm39) |
Y511* |
probably null |
Het |
Arhgef15 |
A |
T |
11: 68,838,507 (GRCm39) |
|
probably null |
Het |
Atp1a3 |
A |
T |
7: 24,689,278 (GRCm39) |
M594K |
probably damaging |
Het |
Atp4a |
G |
A |
7: 30,419,793 (GRCm39) |
|
probably null |
Het |
Bckdk |
T |
A |
7: 127,506,489 (GRCm39) |
I272N |
probably damaging |
Het |
Bod1l |
A |
G |
5: 41,989,622 (GRCm39) |
V367A |
probably benign |
Het |
C1galt1c1 |
T |
C |
X: 37,720,145 (GRCm39) |
M284V |
possibly damaging |
Het |
Cenpk |
T |
A |
13: 104,366,105 (GRCm39) |
C4* |
probably null |
Het |
Cfap53 |
T |
C |
18: 74,416,294 (GRCm39) |
V9A |
possibly damaging |
Het |
Chil3 |
T |
C |
3: 106,067,794 (GRCm39) |
I124V |
possibly damaging |
Het |
Creld2 |
G |
A |
15: 88,704,834 (GRCm39) |
W103* |
probably null |
Het |
Cyp2c67 |
T |
C |
19: 39,614,681 (GRCm39) |
Y282C |
probably benign |
Het |
D5Ertd579e |
C |
T |
5: 36,770,793 (GRCm39) |
A1201T |
probably benign |
Het |
Dock4 |
A |
G |
12: 40,742,988 (GRCm39) |
H381R |
probably benign |
Het |
Drc1 |
C |
T |
5: 30,513,785 (GRCm39) |
S447F |
probably benign |
Het |
Fam83g |
G |
T |
11: 61,594,284 (GRCm39) |
R606L |
probably benign |
Het |
Fmnl1 |
A |
C |
11: 103,085,518 (GRCm39) |
S688R |
probably benign |
Het |
Fryl |
C |
T |
5: 73,279,642 (GRCm39) |
V219I |
probably benign |
Het |
Golgb1 |
T |
A |
16: 36,735,026 (GRCm39) |
N1424K |
probably benign |
Het |
Gpr39 |
T |
C |
1: 125,605,621 (GRCm39) |
V183A |
possibly damaging |
Het |
H2-T22 |
A |
T |
17: 36,351,409 (GRCm39) |
Y274N |
probably benign |
Het |
Hif1a |
T |
A |
12: 73,984,519 (GRCm39) |
Y313N |
probably damaging |
Het |
Hip1r |
T |
A |
5: 124,138,267 (GRCm39) |
M787K |
probably damaging |
Het |
Hipk3 |
T |
C |
2: 104,269,737 (GRCm39) |
E484G |
probably damaging |
Het |
Hsh2d |
T |
A |
8: 72,954,490 (GRCm39) |
F291I |
probably benign |
Het |
Ino80 |
T |
C |
2: 119,262,410 (GRCm39) |
E692G |
probably null |
Het |
Itgam |
T |
A |
7: 127,680,884 (GRCm39) |
V271D |
probably damaging |
Het |
Kansl1 |
A |
C |
11: 104,226,385 (GRCm39) |
I924S |
probably damaging |
Het |
Kcnq2 |
A |
G |
2: 180,723,145 (GRCm39) |
C628R |
probably benign |
Het |
Krt78 |
A |
C |
15: 101,855,849 (GRCm39) |
V654G |
possibly damaging |
Het |
Lrit2 |
A |
G |
14: 36,793,913 (GRCm39) |
T326A |
probably damaging |
Het |
Ltk |
T |
C |
2: 119,582,569 (GRCm39) |
E710G |
probably damaging |
Het |
Lysmd1 |
T |
C |
3: 95,042,285 (GRCm39) |
L53S |
probably damaging |
Het |
Mc4r |
T |
C |
18: 66,992,669 (GRCm39) |
Y148C |
probably damaging |
Het |
Mfn2 |
G |
A |
4: 147,973,162 (GRCm39) |
Q172* |
probably null |
Het |
Mknk2 |
A |
G |
10: 80,504,435 (GRCm39) |
L242P |
possibly damaging |
Het |
Mrpl45 |
A |
T |
11: 97,216,573 (GRCm39) |
H167L |
probably benign |
Het |
Myc |
T |
C |
15: 61,859,951 (GRCm39) |
V208A |
probably damaging |
Het |
Myh7b |
A |
G |
2: 155,471,377 (GRCm39) |
E1175G |
probably benign |
Het |
Myo18a |
A |
T |
11: 77,741,060 (GRCm39) |
M1456L |
probably benign |
Het |
Myocd |
G |
A |
11: 65,109,484 (GRCm39) |
Q96* |
probably null |
Het |
Nckap5 |
T |
A |
1: 125,954,255 (GRCm39) |
I766F |
probably damaging |
Het |
Ndst1 |
T |
C |
18: 60,824,325 (GRCm39) |
E784G |
probably benign |
Het |
Nf1 |
A |
T |
11: 79,360,652 (GRCm39) |
R1443S |
possibly damaging |
Het |
Nhlrc3 |
A |
G |
3: 53,361,072 (GRCm39) |
W228R |
probably damaging |
Het |
Nup107 |
G |
A |
10: 117,609,225 (GRCm39) |
T378I |
probably damaging |
Het |
Or14c40 |
A |
T |
7: 86,313,591 (GRCm39) |
K240N |
probably damaging |
Het |
Or1o3 |
A |
T |
17: 37,573,964 (GRCm39) |
M197K |
probably benign |
Het |
Or52d13 |
T |
A |
7: 103,109,480 (GRCm39) |
|
probably null |
Het |
Or5m3b |
C |
T |
2: 85,871,674 (GRCm39) |
T5I |
probably damaging |
Het |
Or5w11 |
A |
G |
2: 87,459,283 (GRCm39) |
T159A |
probably benign |
Het |
Or6b13 |
T |
A |
7: 139,782,656 (GRCm39) |
D9V |
probably benign |
Het |
Otop1 |
A |
G |
5: 38,457,801 (GRCm39) |
D520G |
probably benign |
Het |
Papln |
C |
T |
12: 83,827,010 (GRCm39) |
P712S |
probably benign |
Het |
Pcbd2 |
T |
A |
13: 55,880,846 (GRCm39) |
I34N |
probably damaging |
Het |
Pkd1l3 |
T |
A |
8: 110,374,205 (GRCm39) |
C29* |
probably null |
Het |
Pou5f1 |
G |
A |
17: 35,820,899 (GRCm39) |
V114M |
probably benign |
Het |
Pramel28 |
A |
T |
4: 143,692,390 (GRCm39) |
Y204N |
probably benign |
Het |
Prpf4b |
C |
A |
13: 35,068,214 (GRCm39) |
|
probably benign |
Het |
Prr23a1 |
C |
T |
9: 98,724,709 (GRCm39) |
P24S |
probably damaging |
Het |
Ptch1 |
T |
A |
13: 63,693,059 (GRCm39) |
M65L |
probably benign |
Het |
Reck |
G |
T |
4: 43,943,195 (GRCm39) |
D916Y |
probably damaging |
Het |
Rtf2 |
A |
G |
2: 172,287,285 (GRCm39) |
D68G |
probably damaging |
Het |
Ryr1 |
G |
T |
7: 28,789,575 (GRCm39) |
T1513K |
probably damaging |
Het |
Sacs |
A |
G |
14: 61,410,890 (GRCm39) |
D55G |
possibly damaging |
Het |
Scn9a |
A |
G |
2: 66,398,527 (GRCm39) |
S28P |
probably benign |
Het |
Scrn3 |
A |
G |
2: 73,160,196 (GRCm39) |
M280V |
probably damaging |
Het |
Snx29 |
C |
T |
16: 11,328,898 (GRCm39) |
T559I |
possibly damaging |
Het |
Spn |
C |
T |
7: 126,735,413 (GRCm39) |
E109K |
probably damaging |
Het |
Sra1 |
C |
T |
18: 36,808,121 (GRCm39) |
R369H |
probably benign |
Het |
Srsf11 |
C |
T |
3: 157,724,982 (GRCm39) |
A64T |
probably damaging |
Het |
Stk17b |
A |
G |
1: 53,815,764 (GRCm39) |
S12P |
probably benign |
Het |
Sult1d1 |
C |
A |
5: 87,707,661 (GRCm39) |
G153V |
probably damaging |
Het |
Sycp2 |
A |
T |
2: 177,991,931 (GRCm39) |
|
probably null |
Het |
Tgfb3 |
T |
C |
12: 86,116,543 (GRCm39) |
E165G |
possibly damaging |
Het |
Tns2 |
C |
A |
15: 102,015,941 (GRCm39) |
H160N |
probably benign |
Het |
Ubn1 |
T |
A |
16: 4,895,088 (GRCm39) |
C711* |
probably null |
Het |
Usp13 |
A |
T |
3: 32,956,135 (GRCm39) |
D469V |
probably damaging |
Het |
Vmn1r231 |
A |
T |
17: 21,110,380 (GRCm39) |
H178Q |
possibly damaging |
Het |
Vwa1 |
A |
G |
4: 155,857,250 (GRCm39) |
S183P |
probably damaging |
Het |
Xpo7 |
A |
G |
14: 70,928,431 (GRCm39) |
I424T |
probably benign |
Het |
Zfp109 |
A |
G |
7: 23,936,041 (GRCm39) |
|
probably null |
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 |
|
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 |
|
Predicted Primers |
PCR Primer
(F):5'- CTCAAAGCCTGTGCAGCTAC -3'
(R):5'- GGTATGTGGGAAAAGTGCTTATAC -3'
Sequencing Primer
(F):5'- TGTGCAGCTACACATGCAC -3'
(R):5'- TGGGAAAAGTGCTTATACTTTATGG -3'
|
Posted On |
2014-09-18 |