Incidental Mutation 'R9053:Rc3h2'
| ID |
688492 |
| 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 |
068879-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R9053 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
37260081-37312915 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 37289628 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Asparagine
at position 395
(Y395N)
|
| 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: Y395N
PolyPhen 2
Score 0.948 (Sensitivity: 0.79; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000097721
Gene: ENSMUSG00000075376
AA Change: Y395N
| 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: Y395N
PolyPhen 2
Score 0.948 (Sensitivity: 0.79; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000108556
Gene: ENSMUSG00000075376
AA Change: Y395N
| 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: Y395N
PolyPhen 2
Score 0.948 (Sensitivity: 0.79; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000108558
Gene: ENSMUSG00000075376
AA Change: Y395N
| 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: Y395N
PolyPhen 2
Score 0.486 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000145082
Gene: ENSMUSG00000075376
AA Change: Y395N
| 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 |
0.0922 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 98.8%
|
| Validation Efficiency |
96% (50/52) |
| 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: 54 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acat3 |
A |
G |
17: 13,147,402 (GRCm39) |
V205A |
probably damaging |
Het |
| Acp7 |
A |
G |
7: 28,316,616 (GRCm39) |
F120L |
possibly damaging |
Het |
| Adh4 |
T |
C |
3: 138,128,045 (GRCm39) |
V157A |
probably damaging |
Het |
| Ahsa2 |
T |
C |
11: 23,443,314 (GRCm39) |
E146G |
probably benign |
Het |
| Ank3 |
T |
C |
10: 69,822,389 (GRCm39) |
S353P |
|
Het |
| Apob |
T |
C |
12: 8,058,954 (GRCm39) |
S2479P |
possibly damaging |
Het |
| Arhgef37 |
A |
G |
18: 61,641,760 (GRCm39) |
L203P |
probably damaging |
Het |
| Arpp21 |
T |
A |
9: 111,984,583 (GRCm39) |
N265I |
possibly damaging |
Het |
| Cfap20dc |
T |
C |
14: 8,518,768 (GRCm38) |
|
probably null |
Het |
| Dagla |
G |
A |
19: 10,246,615 (GRCm39) |
R162C |
probably damaging |
Het |
| Ddx18 |
T |
C |
1: 121,489,135 (GRCm39) |
D304G |
probably damaging |
Het |
| Dnah3 |
A |
T |
7: 119,618,987 (GRCm39) |
L1638Q |
possibly damaging |
Het |
| Dnah6 |
T |
A |
6: 73,061,640 (GRCm39) |
N2815I |
possibly damaging |
Het |
| Dnajc16 |
T |
C |
4: 141,510,371 (GRCm39) |
D94G |
probably benign |
Het |
| Epor |
G |
T |
9: 21,870,655 (GRCm39) |
D408E |
probably benign |
Het |
| Erbb4 |
T |
C |
1: 68,289,779 (GRCm39) |
N754S |
possibly damaging |
Het |
| Etaa1 |
A |
G |
11: 17,895,798 (GRCm39) |
I773T |
probably benign |
Het |
| Fat4 |
T |
A |
3: 38,941,324 (GRCm39) |
Y72* |
probably null |
Het |
| Fbxw18 |
T |
G |
9: 109,517,491 (GRCm39) |
D404A |
probably benign |
Het |
| Flot1 |
T |
A |
17: 36,140,859 (GRCm39) |
V283E |
probably damaging |
Het |
| Gm5145 |
G |
T |
17: 20,791,194 (GRCm39) |
G191W |
probably damaging |
Het |
| Gpr161 |
G |
A |
1: 165,134,166 (GRCm39) |
|
probably benign |
Het |
| Helz |
C |
A |
11: 107,563,761 (GRCm39) |
Q1734K |
unknown |
Het |
| Hycc1 |
A |
G |
5: 24,184,579 (GRCm39) |
C300R |
possibly damaging |
Het |
| Ints1 |
A |
G |
5: 139,747,822 (GRCm39) |
V1195A |
possibly damaging |
Het |
| Khdc4 |
T |
A |
3: 88,596,582 (GRCm39) |
L121Q |
probably damaging |
Het |
| Kmt2a |
T |
A |
9: 44,732,716 (GRCm39) |
T2534S |
unknown |
Het |
| Lingo3 |
T |
C |
10: 80,670,821 (GRCm39) |
N370D |
probably benign |
Het |
| Lrp1b |
A |
G |
2: 40,748,501 (GRCm39) |
V3113A |
|
Het |
| Mthfs |
C |
T |
9: 89,097,454 (GRCm39) |
L104F |
probably damaging |
Het |
| Nlgn1 |
A |
T |
3: 25,488,607 (GRCm39) |
V576D |
probably damaging |
Het |
| Nlrc5 |
A |
G |
8: 95,217,013 (GRCm39) |
R1001G |
probably benign |
Het |
| Obscn |
C |
T |
11: 58,972,636 (GRCm39) |
A2137T |
probably benign |
Het |
| Ociad1 |
T |
A |
5: 73,460,951 (GRCm39) |
H70Q |
probably damaging |
Het |
| Opa1 |
T |
A |
16: 29,404,836 (GRCm39) |
C11* |
probably null |
Het |
| Or4a76 |
A |
G |
2: 89,461,161 (GRCm39) |
V27A |
probably benign |
Het |
| Parp10 |
T |
C |
15: 76,125,964 (GRCm39) |
E408G |
possibly damaging |
Het |
| Pcdhb19 |
G |
A |
18: 37,631,143 (GRCm39) |
E313K |
probably benign |
Het |
| Pmel |
G |
T |
10: 128,551,918 (GRCm39) |
A251S |
probably benign |
Het |
| Polr3d |
G |
T |
14: 70,678,153 (GRCm39) |
P181T |
probably damaging |
Het |
| Prmt3 |
A |
T |
7: 49,430,104 (GRCm39) |
H69L |
probably damaging |
Het |
| Rubcnl |
A |
T |
14: 75,269,717 (GRCm39) |
N125I |
possibly damaging |
Het |
| Shprh |
T |
C |
10: 11,030,446 (GRCm39) |
F221S |
probably benign |
Het |
| Skint5 |
A |
T |
4: 113,403,684 (GRCm39) |
S1179R |
unknown |
Het |
| Skint6 |
C |
A |
4: 113,095,347 (GRCm39) |
G104V |
probably damaging |
Het |
| Slc44a3 |
T |
C |
3: 121,320,839 (GRCm39) |
Y54C |
probably damaging |
Het |
| Sp140 |
TTTTTTTTTTTTT |
TTTTTTTTTTTTTTTTTT |
1: 85,572,290 (GRCm39) |
|
probably benign |
Het |
| Spag5 |
A |
T |
11: 78,212,575 (GRCm39) |
I1137F |
probably benign |
Het |
| Tchp |
A |
T |
5: 114,853,916 (GRCm39) |
Y277F |
probably benign |
Het |
| Tdrd12 |
A |
C |
7: 35,204,468 (GRCm39) |
L267W |
probably damaging |
Het |
| Tfcp2 |
A |
T |
15: 100,396,092 (GRCm39) |
I107N |
|
Het |
| Vmn1r9 |
T |
C |
6: 57,048,513 (GRCm39) |
V196A |
probably benign |
Het |
| Vmn2r62 |
T |
A |
7: 42,413,920 (GRCm39) |
D841V |
|
Het |
| Zzef1 |
G |
T |
11: 72,813,302 (GRCm39) |
R2901L |
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 |
|
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 |
|
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'- TGTGCAGCTACACATGCAC -3'
(R):5'- TCCAGGTATGTGGGAAAAGTGC -3'
Sequencing Primer
(F):5'- GTGCAGCTACACATGCACATACAC -3'
(R):5'- CAGGTATGTGGGAAAAGTGCTTATAC -3'
|
| Posted On |
2021-11-19 |
Incidental Mutation