Incidental Mutation 'R2005:Rc3h2'
| ID |
225318 |
| 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 |
040014-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R2005 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
2 |
| Chromosomal Location |
37260081-37312915 bp(-) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
T to A
at 37279765 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Stop codon
at position 461
(K461*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000145082
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000100143]
[ENSMUST00000112934]
[ENSMUST00000112936]
[ENSMUST00000125619]
|
| AlphaFold |
P0C090 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000100143
AA Change: K488I
PolyPhen 2
Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000097721
Gene: ENSMUSG00000075376
AA Change: K488I
| 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: ENSMUST00000112934
AA Change: K488I
PolyPhen 2
Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000108556
Gene: ENSMUSG00000075376
AA Change: K488I
| 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: ENSMUST00000112936
AA Change: K488I
PolyPhen 2
Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000108558
Gene: ENSMUSG00000075376
AA Change: K488I
| 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: ENSMUST00000125619
AA Change: K461*
|
| SMART Domains |
Protein: ENSMUSP00000145082
Gene: ENSMUSG00000075376
AA Change: K461*
| 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: ENSMUST00000205124
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.9%
- 20x: 94.0%
|
| 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: 78 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcb5 |
G |
A |
12: 118,841,562 (GRCm39) |
A961V |
probably benign |
Het |
| Adcy10 |
A |
G |
1: 165,352,591 (GRCm39) |
Y475C |
probably benign |
Het |
| Adgrb3 |
T |
C |
1: 25,150,799 (GRCm39) |
M1145V |
probably benign |
Het |
| Akr1c21 |
A |
G |
13: 4,624,214 (GRCm39) |
T23A |
probably damaging |
Het |
| Ankrd33b |
A |
T |
15: 31,297,814 (GRCm39) |
S314R |
probably damaging |
Het |
| Apc |
T |
C |
18: 34,443,962 (GRCm39) |
|
probably null |
Het |
| Atg9a |
T |
A |
1: 75,162,635 (GRCm39) |
Q460L |
probably benign |
Het |
| Birc2 |
C |
T |
9: 7,860,342 (GRCm39) |
C292Y |
probably damaging |
Het |
| Capn5 |
T |
C |
7: 97,778,570 (GRCm39) |
I350V |
probably benign |
Het |
| Cc2d2a |
G |
A |
5: 43,883,715 (GRCm39) |
|
probably null |
Het |
| Cdh22 |
T |
A |
2: 165,022,843 (GRCm39) |
E76V |
probably damaging |
Het |
| Cdh8 |
T |
C |
8: 99,760,103 (GRCm39) |
|
probably null |
Het |
| Cdkn1b |
ATTCTTCTTC |
ATTCTTCTTCTTC |
6: 134,898,919 (GRCm39) |
|
probably benign |
Het |
| Cfap54 |
T |
A |
10: 92,720,630 (GRCm39) |
D2608V |
unknown |
Het |
| Crebrf |
T |
C |
17: 26,961,857 (GRCm39) |
V318A |
possibly damaging |
Het |
| Cwf19l2 |
A |
T |
9: 3,430,720 (GRCm39) |
N351Y |
possibly damaging |
Het |
| Cyp2c67 |
A |
T |
19: 39,631,789 (GRCm39) |
M136K |
probably damaging |
Het |
| Ddx10 |
A |
G |
9: 53,151,775 (GRCm39) |
|
probably null |
Het |
| Ddx47 |
A |
G |
6: 134,995,084 (GRCm39) |
N92S |
probably benign |
Het |
| Ddx50 |
T |
A |
10: 62,476,243 (GRCm39) |
H306L |
probably benign |
Het |
| Dnajc27 |
A |
G |
12: 4,147,317 (GRCm39) |
T167A |
possibly damaging |
Het |
| Dscam |
T |
G |
16: 96,840,120 (GRCm39) |
K162N |
probably benign |
Het |
| Eif4h |
G |
A |
5: 134,656,531 (GRCm39) |
T53I |
probably benign |
Het |
| Elmo2 |
T |
C |
2: 165,140,199 (GRCm39) |
N332S |
probably benign |
Het |
| Ergic3 |
A |
G |
2: 155,853,028 (GRCm39) |
N157S |
possibly damaging |
Het |
| F2rl1 |
G |
T |
13: 95,649,782 (GRCm39) |
R367S |
probably damaging |
Het |
| Fbxo36 |
G |
A |
1: 84,877,790 (GRCm39) |
A151T |
probably benign |
Het |
| Foxf2 |
G |
T |
13: 31,810,124 (GRCm39) |
R21L |
unknown |
Het |
| Gmip |
T |
A |
8: 70,266,693 (GRCm39) |
H269Q |
probably benign |
Het |
| Gng4 |
T |
A |
13: 13,980,751 (GRCm39) |
V32E |
probably benign |
Het |
| Grm3 |
T |
C |
5: 9,639,793 (GRCm39) |
Y84C |
possibly damaging |
Het |
| Helz2 |
C |
T |
2: 180,873,122 (GRCm39) |
R2396H |
probably benign |
Het |
| Icosl |
A |
T |
10: 77,907,787 (GRCm39) |
M116L |
possibly damaging |
Het |
| Itgb3bp |
A |
C |
4: 99,702,295 (GRCm39) |
N16K |
probably benign |
Het |
| Kcnt2 |
A |
G |
1: 140,480,756 (GRCm39) |
M824V |
probably damaging |
Het |
| Mki67 |
T |
A |
7: 135,300,238 (GRCm39) |
K1599* |
probably null |
Het |
| Mmp25 |
G |
A |
17: 23,859,216 (GRCm39) |
R144W |
probably damaging |
Het |
| Mmrn1 |
A |
T |
6: 60,953,068 (GRCm39) |
I450F |
possibly damaging |
Het |
| Mroh2b |
A |
T |
15: 4,946,640 (GRCm39) |
K480M |
probably damaging |
Het |
| Nbn |
T |
A |
4: 15,979,351 (GRCm39) |
D445E |
probably benign |
Het |
| Npbwr1 |
T |
A |
1: 5,986,570 (GRCm39) |
S315C |
probably damaging |
Het |
| Or10ag56 |
T |
A |
2: 87,139,792 (GRCm39) |
S240T |
probably benign |
Het |
| Or1e19 |
A |
T |
11: 73,316,065 (GRCm39) |
V248E |
probably damaging |
Het |
| Or5d38 |
A |
G |
2: 87,954,891 (GRCm39) |
L146P |
probably damaging |
Het |
| Or7g16 |
G |
A |
9: 18,726,801 (GRCm39) |
S263L |
probably benign |
Het |
| Pard3b |
A |
T |
1: 62,184,050 (GRCm39) |
E183D |
probably benign |
Het |
| Pde10a |
G |
A |
17: 9,147,923 (GRCm39) |
|
probably null |
Het |
| Pdlim2 |
C |
T |
14: 70,402,228 (GRCm39) |
R296H |
probably damaging |
Het |
| Prdm13 |
T |
C |
4: 21,685,695 (GRCm39) |
|
probably benign |
Het |
| Reep2 |
C |
T |
18: 34,978,674 (GRCm39) |
T117M |
probably damaging |
Het |
| Rhbdd1 |
A |
G |
1: 82,318,531 (GRCm39) |
N138S |
probably benign |
Het |
| Rnf19a |
A |
T |
15: 36,241,916 (GRCm39) |
F708I |
possibly damaging |
Het |
| Robo2 |
G |
A |
16: 73,730,003 (GRCm39) |
H1069Y |
possibly damaging |
Het |
| Rpl9 |
C |
T |
5: 65,546,878 (GRCm39) |
V112I |
probably benign |
Het |
| Sec16a |
A |
C |
2: 26,329,092 (GRCm39) |
S974R |
probably benign |
Het |
| Sfrp5 |
A |
G |
19: 42,187,275 (GRCm39) |
M265T |
probably benign |
Het |
| Skint7 |
T |
C |
4: 111,842,047 (GRCm39) |
I305T |
probably benign |
Het |
| Slc6a7 |
T |
C |
18: 61,134,713 (GRCm39) |
D454G |
possibly damaging |
Het |
| Slco6c1 |
A |
G |
1: 97,009,214 (GRCm39) |
I407T |
probably damaging |
Het |
| Slfn8 |
A |
T |
11: 82,894,976 (GRCm39) |
M610K |
probably damaging |
Het |
| Spidr |
A |
G |
16: 15,865,913 (GRCm39) |
S299P |
probably damaging |
Het |
| Sptbn4 |
C |
T |
7: 27,065,844 (GRCm39) |
W2034* |
probably null |
Het |
| Stard9 |
T |
A |
2: 120,495,426 (GRCm39) |
F100L |
possibly damaging |
Het |
| Stard9 |
C |
A |
2: 120,504,117 (GRCm39) |
S221R |
probably damaging |
Het |
| Stc1 |
T |
C |
14: 69,269,096 (GRCm39) |
|
probably null |
Het |
| Sun2 |
T |
C |
15: 79,610,825 (GRCm39) |
E667G |
possibly damaging |
Het |
| Tacc2 |
T |
C |
7: 130,333,280 (GRCm39) |
S511P |
probably damaging |
Het |
| Tasp1 |
T |
G |
2: 139,819,598 (GRCm39) |
K202Q |
probably damaging |
Het |
| Tdrd6 |
A |
G |
17: 43,939,546 (GRCm39) |
F501L |
probably damaging |
Het |
| Tgds |
A |
G |
14: 118,368,068 (GRCm39) |
V35A |
possibly damaging |
Het |
| Tubgcp6 |
G |
A |
15: 88,988,369 (GRCm39) |
T860I |
probably benign |
Het |
| Twf1 |
C |
T |
15: 94,483,328 (GRCm39) |
|
probably null |
Het |
| Vangl1 |
A |
G |
3: 102,070,782 (GRCm39) |
S385P |
probably benign |
Het |
| Vmn2r117 |
A |
G |
17: 23,696,618 (GRCm39) |
I263T |
probably damaging |
Het |
| Washc5 |
A |
G |
15: 59,213,004 (GRCm39) |
L892P |
possibly damaging |
Het |
| Wnk4 |
T |
C |
11: 101,154,716 (GRCm39) |
C302R |
probably damaging |
Het |
| Zfp395 |
A |
G |
14: 65,626,334 (GRCm39) |
E191G |
possibly damaging |
Het |
| Zkscan17 |
A |
G |
11: 59,383,042 (GRCm39) |
L302P |
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 |
|
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 |
|
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'- CTACTTTTCAGACACGGACTCTG -3'
(R):5'- GAAAGTTCTCAGAGCTGTTTCC -3'
Sequencing Primer
(F):5'- ACACGGACTCTGCAGAGG -3'
(R):5'- CAGAGCTGTTTCCTTTTTAAAACAC -3'
|
| Posted On |
2014-08-25 |
Incidental Mutation