Incidental Mutation 'R7162:Rc3h2'
ID |
557628 |
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 |
045261-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R7162 (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 37299617 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Leucine
at position 138
(V138L)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000108556
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000100143]
[ENSMUST00000112934]
[ENSMUST00000112936]
[ENSMUST00000125619]
|
AlphaFold |
P0C090 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000100143
AA Change: V138L
PolyPhen 2
Score 0.588 (Sensitivity: 0.87; Specificity: 0.91)
|
SMART Domains |
Protein: ENSMUSP00000097721 Gene: ENSMUSG00000075376 AA Change: V138L
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: V138L
PolyPhen 2
Score 0.588 (Sensitivity: 0.87; Specificity: 0.91)
|
SMART Domains |
Protein: ENSMUSP00000108556 Gene: ENSMUSG00000075376 AA Change: V138L
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: V138L
PolyPhen 2
Score 0.588 (Sensitivity: 0.87; Specificity: 0.91)
|
SMART Domains |
Protein: ENSMUSP00000108558 Gene: ENSMUSG00000075376 AA Change: V138L
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: V138L
PolyPhen 2
Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000145082 Gene: ENSMUSG00000075376 AA Change: V138L
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 |
|
Meta Mutation Damage Score |
0.1059 |
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.0%
|
Validation Efficiency |
99% (85/86) |
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 |
Akp3 |
C |
T |
1: 87,055,471 (GRCm39) |
T506I |
unknown |
Het |
Ank1 |
T |
C |
8: 23,622,370 (GRCm39) |
W1640R |
possibly damaging |
Het |
Atp2a2 |
A |
G |
5: 122,627,387 (GRCm39) |
M126T |
probably benign |
Het |
Bptf |
A |
T |
11: 106,934,457 (GRCm39) |
|
probably null |
Het |
Brat1 |
T |
C |
5: 140,696,004 (GRCm39) |
V125A |
probably benign |
Het |
Cables1 |
T |
C |
18: 12,059,423 (GRCm39) |
|
probably null |
Het |
Cabp5 |
A |
T |
7: 13,135,260 (GRCm39) |
M67L |
probably damaging |
Het |
Cacna1b |
A |
C |
2: 24,590,034 (GRCm39) |
I558S |
probably benign |
Het |
Ccdc166 |
A |
G |
15: 75,853,044 (GRCm39) |
S308P |
probably benign |
Het |
Cfap57 |
C |
T |
4: 118,472,128 (GRCm39) |
V84I |
probably benign |
Het |
Cfhr2 |
A |
G |
1: 139,741,264 (GRCm39) |
V237A |
probably benign |
Het |
Clybl |
C |
A |
14: 122,608,732 (GRCm39) |
S108* |
probably null |
Het |
Cubn |
A |
G |
2: 13,347,309 (GRCm39) |
Y2070H |
probably damaging |
Het |
Cyp8b1 |
A |
G |
9: 121,744,777 (GRCm39) |
F185S |
probably damaging |
Het |
Dennd2c |
T |
A |
3: 103,063,423 (GRCm39) |
V620D |
probably damaging |
Het |
Dis3l2 |
T |
C |
1: 86,971,752 (GRCm39) |
F597L |
possibly damaging |
Het |
Eif3f |
G |
A |
7: 108,539,938 (GRCm39) |
R282H |
probably benign |
Het |
Ell |
C |
A |
8: 71,031,559 (GRCm39) |
R86S |
possibly damaging |
Het |
Eppk1 |
A |
G |
15: 75,990,809 (GRCm39) |
V2024A |
possibly damaging |
Het |
Exoc6 |
T |
C |
19: 37,565,566 (GRCm39) |
I214T |
probably damaging |
Het |
Faim2 |
A |
G |
15: 99,419,048 (GRCm39) |
|
probably null |
Het |
Gli1 |
A |
G |
10: 127,168,306 (GRCm39) |
S516P |
probably benign |
Het |
Gm18596 |
A |
T |
10: 77,578,034 (GRCm39) |
S147T |
unknown |
Het |
Gm19965 |
A |
G |
1: 116,750,095 (GRCm39) |
Y592C |
unknown |
Het |
Gng12 |
T |
C |
6: 66,994,285 (GRCm39) |
S36P |
unknown |
Het |
Gramd2b |
G |
A |
18: 56,618,529 (GRCm39) |
|
probably null |
Het |
Hmcn1 |
T |
A |
1: 150,624,744 (GRCm39) |
T1054S |
probably benign |
Het |
Ifngr1 |
A |
G |
10: 19,485,101 (GRCm39) |
T367A |
probably benign |
Het |
Il21r |
G |
T |
7: 125,231,483 (GRCm39) |
V304L |
probably benign |
Het |
Ino80d |
G |
A |
1: 63,104,894 (GRCm39) |
T394M |
probably damaging |
Het |
Itfg2 |
C |
T |
6: 128,387,546 (GRCm39) |
V380M |
probably damaging |
Het |
Kcna5 |
C |
T |
6: 126,510,806 (GRCm39) |
V441I |
possibly damaging |
Het |
Kcp |
T |
A |
6: 29,497,199 (GRCm39) |
|
probably null |
Het |
Kdf1 |
C |
T |
4: 133,257,229 (GRCm39) |
T375I |
unknown |
Het |
Klk1b1 |
A |
T |
7: 43,618,671 (GRCm39) |
D16V |
probably damaging |
Het |
Krtap5-4 |
A |
C |
7: 141,857,335 (GRCm39) |
T2P |
unknown |
Het |
Lamtor1 |
A |
G |
7: 101,555,243 (GRCm39) |
D13G |
probably benign |
Het |
Lrp10 |
T |
C |
14: 54,703,163 (GRCm39) |
V72A |
possibly damaging |
Het |
Lrrc1 |
C |
A |
9: 77,339,472 (GRCm39) |
A503S |
probably benign |
Het |
Mylk |
A |
T |
16: 34,742,899 (GRCm39) |
D1137V |
probably damaging |
Het |
Myo5b |
C |
G |
18: 74,828,498 (GRCm39) |
L717V |
probably benign |
Het |
Myoz3 |
T |
A |
18: 60,709,485 (GRCm39) |
R225S |
probably damaging |
Het |
Myrf |
A |
G |
19: 10,196,010 (GRCm39) |
F335L |
possibly damaging |
Het |
Nfib |
A |
C |
4: 82,268,677 (GRCm39) |
S292A |
probably damaging |
Het |
Notch3 |
G |
T |
17: 32,365,423 (GRCm39) |
H1096Q |
probably damaging |
Het |
Nt5c1a |
A |
G |
4: 123,107,898 (GRCm39) |
R194G |
probably benign |
Het |
Or10d3 |
A |
G |
9: 39,461,525 (GRCm39) |
I214T |
probably damaging |
Het |
Or5a1 |
A |
G |
19: 12,097,501 (GRCm39) |
F192L |
possibly damaging |
Het |
Parp4 |
A |
G |
14: 56,886,333 (GRCm39) |
E1804G |
unknown |
Het |
Pcdhac2 |
A |
T |
18: 37,278,840 (GRCm39) |
I607L |
probably benign |
Het |
Pcdhb5 |
A |
G |
18: 37,454,739 (GRCm39) |
D373G |
probably benign |
Het |
Pcf11 |
A |
T |
7: 92,313,221 (GRCm39) |
V154E |
probably damaging |
Het |
Pdia3 |
T |
G |
2: 121,260,002 (GRCm39) |
D180E |
probably benign |
Het |
Piezo2 |
C |
A |
18: 63,257,780 (GRCm39) |
V313F |
possibly damaging |
Het |
Pik3ap1 |
C |
A |
19: 41,309,965 (GRCm39) |
A452S |
probably benign |
Het |
Plb1 |
A |
G |
5: 32,507,007 (GRCm39) |
K1194R |
probably benign |
Het |
Pld3 |
A |
C |
7: 27,231,899 (GRCm39) |
W431G |
probably damaging |
Het |
Plekha3 |
T |
C |
2: 76,523,110 (GRCm39) |
|
probably null |
Het |
Ppm1f |
G |
T |
16: 16,732,057 (GRCm39) |
R169L |
probably damaging |
Het |
Ppp2r3d |
A |
G |
9: 124,439,673 (GRCm38) |
V60A |
|
Het |
Prop1 |
T |
A |
11: 50,842,881 (GRCm39) |
D102V |
probably damaging |
Het |
Rbm27 |
G |
A |
18: 42,447,092 (GRCm39) |
G446R |
unknown |
Het |
Rorc |
G |
A |
3: 94,284,915 (GRCm39) |
|
probably null |
Het |
Sardh |
A |
G |
2: 27,087,702 (GRCm39) |
V723A |
possibly damaging |
Het |
Sart3 |
A |
G |
5: 113,900,896 (GRCm39) |
Y181H |
probably damaging |
Het |
Sbpl |
A |
T |
17: 24,172,439 (GRCm39) |
M160K |
possibly damaging |
Het |
Sh3gl3 |
A |
G |
7: 81,933,350 (GRCm39) |
S238G |
probably benign |
Het |
Slc22a30 |
A |
G |
19: 8,314,081 (GRCm39) |
|
probably null |
Het |
Slc3a1 |
A |
T |
17: 85,371,442 (GRCm39) |
R665* |
probably null |
Het |
Stk32a |
C |
A |
18: 43,430,649 (GRCm39) |
Y186* |
probably null |
Het |
Stxbp6 |
T |
C |
12: 44,949,663 (GRCm39) |
N89D |
probably benign |
Het |
Svep1 |
A |
G |
4: 58,070,262 (GRCm39) |
F2508S |
possibly damaging |
Het |
Tas1r1 |
A |
G |
4: 152,116,695 (GRCm39) |
V313A |
possibly damaging |
Het |
Tmem81 |
T |
C |
1: 132,435,355 (GRCm39) |
Y54H |
probably damaging |
Het |
Tmtc1 |
T |
C |
6: 148,172,985 (GRCm39) |
N582S |
probably damaging |
Het |
Top2b |
T |
C |
14: 16,416,653 (GRCm38) |
S1138P |
probably benign |
Het |
Trim24 |
T |
A |
6: 37,942,456 (GRCm39) |
N989K |
possibly damaging |
Het |
Trim72 |
T |
A |
7: 127,606,821 (GRCm39) |
M145K |
probably benign |
Het |
Ttll9 |
T |
A |
2: 152,831,523 (GRCm39) |
S154T |
probably damaging |
Het |
Tusc3 |
T |
C |
8: 39,593,741 (GRCm39) |
V286A |
probably benign |
Het |
Vat1l |
C |
A |
8: 114,963,518 (GRCm39) |
H185N |
probably damaging |
Het |
Vmn1r209 |
A |
T |
13: 22,990,128 (GRCm39) |
D187E |
probably damaging |
Het |
Vmn2r87 |
T |
C |
10: 130,313,416 (GRCm39) |
N450S |
probably benign |
Het |
Wdr7 |
T |
A |
18: 63,857,210 (GRCm39) |
D95E |
possibly damaging |
Het |
Zfp937 |
C |
T |
2: 150,081,439 (GRCm39) |
H490Y |
probably benign |
Het |
Zfp974 |
A |
T |
7: 27,610,944 (GRCm39) |
H260Q |
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 |
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 |
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'- TTTACCTGGCCCTAGAAACTGG -3'
(R):5'- GCACCAAGATGAAATCTGAAGC -3'
Sequencing Primer
(F):5'- TAGAAACTGGCATCCTCGAGC -3'
(R):5'- GGTAAGGAGCACTGACTACTCTTC -3'
|
Posted On |
2019-06-26 |