Incidental Mutation 'R6112:Rc3h2'
| ID |
484882 |
| 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 |
044261-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R6112 (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 T
at 37268899 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Isoleucine
at position 856
(V856I)
|
| 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: V856I
PolyPhen 2
Score 0.588 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000097721
Gene: ENSMUSG00000075376
AA Change: V856I
| 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: V856I
PolyPhen 2
Score 0.588 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000108556
Gene: ENSMUSG00000075376
AA Change: V856I
| 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: V856I
PolyPhen 2
Score 0.588 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000108558
Gene: ENSMUSG00000075376
AA Change: V856I
| 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 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: ENSMUST00000143826
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000204959
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.2%
- 20x: 95.1%
|
| Validation Efficiency |
98% (54/55) |
| 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: 55 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc1 |
A |
G |
16: 14,278,780 (GRCm39) |
Y1030C |
probably damaging |
Het |
| Adh5 |
G |
T |
3: 138,157,029 (GRCm39) |
V197F |
probably damaging |
Het |
| Ankmy1 |
A |
T |
1: 92,798,684 (GRCm39) |
F936I |
probably damaging |
Het |
| Aoc1 |
A |
T |
6: 48,885,625 (GRCm39) |
D710V |
probably damaging |
Het |
| Aplp1 |
T |
C |
7: 30,134,902 (GRCm39) |
E622G |
probably damaging |
Het |
| Arhgap20 |
T |
C |
9: 51,740,684 (GRCm39) |
Y219H |
probably damaging |
Het |
| Bag3 |
A |
G |
7: 128,143,556 (GRCm39) |
D184G |
probably damaging |
Het |
| Cacna1g |
C |
T |
11: 94,300,072 (GRCm39) |
A2216T |
probably damaging |
Het |
| Cbarp |
T |
C |
10: 79,971,205 (GRCm39) |
|
probably null |
Het |
| Cep250 |
C |
A |
2: 155,836,503 (GRCm39) |
L2211I |
possibly damaging |
Het |
| Cfap65 |
A |
G |
1: 74,942,298 (GRCm39) |
I1752T |
probably benign |
Het |
| Col4a4 |
A |
G |
1: 82,431,604 (GRCm39) |
V1560A |
unknown |
Het |
| Dapk3 |
A |
T |
10: 81,019,864 (GRCm39) |
Q6L |
probably benign |
Het |
| Dctn5 |
A |
G |
7: 121,732,460 (GRCm39) |
|
probably benign |
Het |
| Eef1akmt1 |
A |
T |
14: 57,787,330 (GRCm39) |
I182N |
possibly damaging |
Het |
| Eef1g |
T |
C |
19: 8,954,955 (GRCm39) |
F346S |
probably damaging |
Het |
| Erap1 |
G |
T |
13: 74,794,398 (GRCm39) |
W19L |
probably benign |
Het |
| Gm10801 |
A |
G |
2: 98,494,409 (GRCm39) |
H162R |
probably benign |
Het |
| Gpm6a |
G |
A |
8: 55,507,845 (GRCm39) |
A194T |
probably benign |
Het |
| Grip1 |
C |
A |
10: 119,829,137 (GRCm39) |
N32K |
probably benign |
Het |
| Hmcn1 |
A |
G |
1: 150,494,687 (GRCm39) |
I4134T |
probably damaging |
Het |
| Hspa14 |
G |
A |
2: 3,499,105 (GRCm39) |
H230Y |
probably benign |
Het |
| Ift172 |
T |
C |
5: 31,414,241 (GRCm39) |
T1435A |
probably benign |
Het |
| Igsf3 |
T |
A |
3: 101,358,322 (GRCm39) |
Y738N |
probably damaging |
Het |
| Lcor |
T |
C |
19: 41,547,520 (GRCm39) |
V368A |
possibly damaging |
Het |
| Lmna |
C |
A |
3: 88,393,928 (GRCm39) |
E217* |
probably null |
Het |
| Lrp1b |
C |
T |
2: 41,231,894 (GRCm39) |
G337E |
probably benign |
Het |
| Maf1 |
A |
G |
15: 76,236,312 (GRCm39) |
|
probably benign |
Het |
| Magi1 |
T |
C |
6: 93,722,571 (GRCm39) |
I436V |
probably damaging |
Het |
| Muc4 |
C |
T |
16: 32,596,157 (GRCm39) |
T3123I |
possibly damaging |
Het |
| Muc5b |
T |
A |
7: 141,417,042 (GRCm39) |
H3329Q |
probably benign |
Het |
| Noa1 |
C |
T |
5: 77,457,593 (GRCm39) |
R104Q |
probably benign |
Het |
| Odc1 |
T |
G |
12: 17,599,473 (GRCm39) |
S267A |
probably benign |
Het |
| Or5p60 |
T |
A |
7: 107,724,369 (GRCm39) |
I34F |
probably benign |
Het |
| Pam |
A |
G |
1: 97,762,193 (GRCm39) |
Y691H |
probably damaging |
Het |
| Pamr1 |
T |
C |
2: 102,441,953 (GRCm39) |
Y181H |
probably damaging |
Het |
| Pcdhga2 |
T |
A |
18: 37,802,612 (GRCm39) |
I152N |
probably damaging |
Het |
| Pigt |
C |
T |
2: 164,348,365 (GRCm39) |
Q437* |
probably null |
Het |
| Prx |
T |
C |
7: 27,215,973 (GRCm39) |
L158P |
probably damaging |
Het |
| Ptprh |
T |
A |
7: 4,600,922 (GRCm39) |
T152S |
probably benign |
Het |
| Pum1 |
G |
A |
4: 130,457,591 (GRCm39) |
R201H |
probably damaging |
Het |
| Rad51ap2 |
T |
C |
12: 11,507,290 (GRCm39) |
I404T |
probably benign |
Het |
| Radil |
C |
T |
5: 142,529,399 (GRCm39) |
R99H |
probably damaging |
Het |
| Slx4ip |
T |
A |
2: 136,888,664 (GRCm39) |
V115E |
probably damaging |
Het |
| Snx3 |
C |
A |
10: 42,402,042 (GRCm39) |
S85R |
probably benign |
Het |
| Sppl2c |
A |
T |
11: 104,077,963 (GRCm39) |
E254D |
probably benign |
Het |
| Srms |
C |
A |
2: 180,849,780 (GRCm39) |
E237* |
probably null |
Het |
| Tenm1 |
C |
T |
X: 41,916,072 (GRCm39) |
G404E |
probably damaging |
Het |
| Trank1 |
T |
C |
9: 111,220,805 (GRCm39) |
L2514P |
probably damaging |
Het |
| Trib1 |
C |
T |
15: 59,523,487 (GRCm39) |
R174* |
probably null |
Het |
| Usp4 |
A |
G |
9: 108,233,703 (GRCm39) |
Y108C |
probably damaging |
Het |
| Vmn2r60 |
A |
T |
7: 41,844,847 (GRCm39) |
I737F |
probably damaging |
Het |
| Zfp600 |
A |
T |
4: 146,131,701 (GRCm39) |
H123L |
probably benign |
Het |
| Zfp646 |
G |
T |
7: 127,478,190 (GRCm39) |
R122S |
possibly damaging |
Het |
| Znfx1 |
A |
G |
2: 166,880,126 (GRCm39) |
Y553H |
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 |
|
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 |
|
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'- TGCTGTAGCTAAAGATAAAGTATGTTC -3'
(R):5'- ACAAGCTTGTAAAGTTAGGTTTCAT -3'
Sequencing Primer
(F):5'- CACATAATTAGGTTTTTCTGGTCAAC -3'
(R):5'- CATACTAATTTACCTTCTTTCCCCC -3'
|
| Posted On |
2017-08-16 |
Incidental Mutation