Incidental Mutation 'R9437:Rc3h2'
| ID |
713315 |
| 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 |
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R9437 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
2 |
| Chromosomal Location |
37260081-37312915 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 37272841 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Alanine to Valine
at position 745
(A745V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000108556
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000100143]
[ENSMUST00000112934]
[ENSMUST00000112936]
[ENSMUST00000125619]
|
| AlphaFold |
P0C090 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000100143
AA Change: A745V
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000097721
Gene: ENSMUSG00000075376
AA Change: A745V
| 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: A745V
PolyPhen 2
Score 0.942 (Sensitivity: 0.80; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000108556
Gene: ENSMUSG00000075376
AA Change: A745V
| 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: A745V
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000108558
Gene: ENSMUSG00000075376
AA Change: A745V
| 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 |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.0%
|
| 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: 36 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Akap8l |
T |
C |
17: 32,553,608 (GRCm39) |
S371G |
probably benign |
Het |
| Bdp1 |
A |
G |
13: 100,162,158 (GRCm39) |
S2255P |
probably benign |
Het |
| Ccdc93 |
C |
T |
1: 121,369,584 (GRCm39) |
Q109* |
probably null |
Het |
| Copa |
G |
A |
1: 171,931,712 (GRCm39) |
R321H |
possibly damaging |
Het |
| Cyp2b23 |
A |
T |
7: 26,372,199 (GRCm39) |
D415E |
possibly damaging |
Het |
| Dcun1d2 |
T |
C |
8: 13,331,004 (GRCm39) |
D42G |
probably benign |
Het |
| Ebf4 |
T |
A |
2: 130,202,005 (GRCm39) |
S325T |
probably benign |
Het |
| Ergic2 |
T |
C |
6: 148,097,562 (GRCm39) |
E137G |
probably benign |
Het |
| Etl4 |
T |
C |
2: 20,813,872 (GRCm39) |
S1304P |
probably benign |
Het |
| Fam24b |
A |
T |
7: 130,927,893 (GRCm39) |
C99S |
probably benign |
Het |
| Fat4 |
A |
G |
3: 38,945,417 (GRCm39) |
T1437A |
probably benign |
Het |
| Fgd5 |
A |
G |
6: 91,964,627 (GRCm39) |
T287A |
probably benign |
Het |
| Fscb |
G |
T |
12: 64,519,708 (GRCm39) |
A586E |
unknown |
Het |
| Gm2244 |
A |
T |
14: 19,599,038 (GRCm39) |
I86N |
probably damaging |
Het |
| Hnrnph3 |
T |
A |
10: 62,854,627 (GRCm39) |
R55* |
probably null |
Het |
| Kcnk5 |
A |
C |
14: 20,192,468 (GRCm39) |
I231S |
probably damaging |
Het |
| Krt10 |
A |
G |
11: 99,276,390 (GRCm39) |
M87T |
probably benign |
Het |
| Ly6c2 |
C |
G |
15: 74,983,535 (GRCm39) |
|
probably benign |
Het |
| Map4 |
C |
A |
9: 109,864,155 (GRCm39) |
T460K |
possibly damaging |
Het |
| Mok |
A |
G |
12: 110,774,659 (GRCm39) |
C388R |
probably benign |
Het |
| Ms4a3 |
T |
C |
19: 11,607,065 (GRCm39) |
D200G |
possibly damaging |
Het |
| Ncapd2 |
A |
G |
6: 125,153,655 (GRCm39) |
Y687H |
probably damaging |
Het |
| Nrp1 |
A |
G |
8: 129,187,108 (GRCm39) |
T385A |
probably benign |
Het |
| Or2w25 |
T |
C |
11: 59,504,195 (GRCm39) |
M135T |
possibly damaging |
Het |
| Or56a41 |
A |
T |
7: 104,739,963 (GRCm39) |
Y294* |
probably null |
Het |
| Osbp2 |
A |
G |
11: 3,664,581 (GRCm39) |
S131P |
probably damaging |
Het |
| Pcdhga3 |
G |
A |
18: 37,808,144 (GRCm39) |
R199H |
probably damaging |
Het |
| Peg10 |
T |
TCCA |
6: 4,756,451 (GRCm39) |
|
probably benign |
Het |
| Pigx |
G |
T |
16: 31,918,310 (GRCm39) |
D26E |
probably benign |
Het |
| Pkn3 |
T |
C |
2: 29,973,267 (GRCm39) |
I363T |
possibly damaging |
Het |
| Psg16 |
T |
A |
7: 16,827,715 (GRCm39) |
Y133N |
probably damaging |
Het |
| Pygl |
A |
G |
12: 70,246,925 (GRCm39) |
I407T |
probably damaging |
Het |
| Srgap1 |
T |
C |
10: 121,636,777 (GRCm39) |
E703G |
probably benign |
Het |
| Susd4 |
T |
C |
1: 182,681,697 (GRCm39) |
|
probably null |
Het |
| Tbpl1 |
T |
C |
10: 22,587,838 (GRCm39) |
N37S |
probably damaging |
Het |
| Tex264 |
T |
C |
9: 106,559,096 (GRCm39) |
I77V |
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 |
|
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 |
|
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'- AGGATCTCAACTAACACATGATAGC -3'
(R):5'- ATGTATGCTCCGGTGTATGACAG -3'
Sequencing Primer
(F):5'- CTGGAACTCACTTTGTAGACCAGG -3'
(R):5'- TATGACAGCAGGCGCATCTG -3'
|
| Posted On |
2022-05-16 |
Incidental Mutation