Incidental Mutation 'R7640:Rc3h2'
| ID |
590162 |
| 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 |
045698-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R7640 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
37260081-37312915 bp(-) (GRCm39) |
| Type of Mutation |
critical splice donor site (2 bp from exon) |
| DNA Base Change (assembly) |
A to G
at 37267861 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000108556
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000100143]
[ENSMUST00000112934]
[ENSMUST00000112936]
[ENSMUST00000125619]
|
| AlphaFold |
P0C090 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000100143
|
| SMART Domains |
Protein: ENSMUSP00000097721
Gene: ENSMUSG00000075376
| 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: ENSMUST00000112934
|
| SMART Domains |
Protein: ENSMUSP00000108556
Gene: ENSMUSG00000075376
| 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: ENSMUST00000112936
|
| SMART Domains |
Protein: ENSMUSP00000108558
Gene: ENSMUSG00000075376
| 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: 99.2%
|
| Validation Efficiency |
99% (68/69) |
| 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: 69 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700013G24Rik |
A |
T |
4: 137,181,905 (GRCm39) |
N20I |
probably damaging |
Het |
| 4930558K02Rik |
A |
G |
1: 161,784,718 (GRCm39) |
S74P |
probably benign |
Het |
| Abcb6 |
A |
T |
1: 75,151,489 (GRCm39) |
|
probably null |
Het |
| Adamts14 |
C |
A |
10: 61,081,836 (GRCm39) |
A234S |
probably benign |
Het |
| Ankrd42 |
A |
G |
7: 92,268,843 (GRCm39) |
S167P |
probably benign |
Het |
| Ap3m1 |
T |
C |
14: 21,088,243 (GRCm39) |
I272V |
probably benign |
Het |
| Armt1 |
T |
C |
10: 4,403,572 (GRCm39) |
F219S |
probably damaging |
Het |
| Atr |
T |
G |
9: 95,789,346 (GRCm39) |
|
probably null |
Het |
| Cep72 |
G |
A |
13: 74,206,607 (GRCm39) |
Q72* |
probably null |
Het |
| Clock |
G |
T |
5: 76,396,225 (GRCm39) |
L175M |
possibly damaging |
Het |
| Cnmd |
T |
A |
14: 79,898,974 (GRCm39) |
Y26F |
possibly damaging |
Het |
| Col6a6 |
A |
T |
9: 105,662,943 (GRCm39) |
M198K |
possibly damaging |
Het |
| Cuta |
C |
T |
17: 27,157,396 (GRCm39) |
V135I |
probably benign |
Het |
| Ddx41 |
A |
T |
13: 55,682,052 (GRCm39) |
M241K |
possibly damaging |
Het |
| Dnajc22 |
A |
G |
15: 98,998,995 (GRCm39) |
N60S |
probably damaging |
Het |
| Drc3 |
A |
G |
11: 60,279,730 (GRCm39) |
M432V |
probably benign |
Het |
| Dync2i2 |
T |
G |
2: 29,921,780 (GRCm39) |
D527A |
probably benign |
Het |
| Eef1d |
C |
A |
15: 75,774,556 (GRCm39) |
G368C |
probably damaging |
Het |
| En2 |
A |
T |
5: 28,375,164 (GRCm39) |
K236* |
probably null |
Het |
| Fas |
A |
G |
19: 34,284,564 (GRCm39) |
T24A |
possibly damaging |
Het |
| Golga2 |
T |
C |
2: 32,196,251 (GRCm39) |
V930A |
probably benign |
Het |
| Gprin2 |
G |
T |
14: 33,917,710 (GRCm39) |
A20D |
probably benign |
Het |
| Ighv14-4 |
A |
T |
12: 114,140,064 (GRCm39) |
C115* |
probably null |
Het |
| Impdh2 |
T |
C |
9: 108,442,380 (GRCm39) |
Y459H |
possibly damaging |
Het |
| Klhdc7b |
G |
T |
15: 89,271,463 (GRCm39) |
V124L |
possibly damaging |
Het |
| L2hgdh |
A |
T |
12: 69,768,131 (GRCm39) |
Y122* |
probably null |
Het |
| Lamc2 |
A |
T |
1: 153,012,550 (GRCm39) |
I708N |
possibly damaging |
Het |
| Large2 |
T |
C |
2: 92,205,050 (GRCm39) |
M1V |
probably null |
Het |
| Lrit2 |
T |
C |
14: 36,794,081 (GRCm39) |
W382R |
probably damaging |
Het |
| Mcee |
T |
A |
7: 64,061,716 (GRCm39) |
V173E |
probably damaging |
Het |
| Mcph1 |
T |
A |
8: 18,682,342 (GRCm39) |
V493E |
probably benign |
Het |
| Mfap4 |
A |
G |
11: 61,377,913 (GRCm39) |
N118D |
probably damaging |
Het |
| Mknk2 |
T |
C |
10: 80,504,400 (GRCm39) |
S301G |
probably benign |
Het |
| Mlf1 |
G |
A |
3: 67,300,266 (GRCm39) |
M94I |
possibly damaging |
Het |
| Mrc2 |
T |
A |
11: 105,223,121 (GRCm39) |
S455T |
possibly damaging |
Het |
| Mrgprb5 |
T |
G |
7: 47,818,007 (GRCm39) |
I243L |
probably benign |
Het |
| Muc4 |
C |
A |
16: 32,580,479 (GRCm39) |
P360T |
|
Het |
| Nat10 |
G |
A |
2: 103,573,435 (GRCm39) |
A354V |
probably damaging |
Het |
| Nscme3l |
T |
A |
19: 5,553,035 (GRCm39) |
S249C |
probably damaging |
Het |
| Nts |
T |
C |
10: 102,326,165 (GRCm39) |
Q7R |
possibly damaging |
Het |
| Oas1b |
T |
C |
5: 120,959,479 (GRCm39) |
L288P |
probably damaging |
Het |
| Or4a66 |
T |
A |
2: 88,531,230 (GRCm39) |
I148L |
probably benign |
Het |
| Or51k2 |
A |
T |
7: 103,596,150 (GRCm39) |
I126F |
probably damaging |
Het |
| Or5w11 |
A |
G |
2: 87,459,436 (GRCm39) |
I94V |
probably benign |
Het |
| Or8k30 |
A |
G |
2: 86,339,287 (GRCm39) |
I161M |
possibly damaging |
Het |
| Otoa |
A |
G |
7: 120,744,849 (GRCm39) |
E869G |
probably damaging |
Het |
| Pcdhac2 |
T |
C |
18: 37,277,578 (GRCm39) |
L186P |
probably damaging |
Het |
| Plekhh2 |
A |
G |
17: 84,918,204 (GRCm39) |
E1271G |
possibly damaging |
Het |
| Pmepa1 |
C |
T |
2: 173,117,956 (GRCm39) |
A8T |
probably benign |
Het |
| Pramel24 |
T |
C |
4: 143,453,276 (GRCm39) |
V128A |
probably benign |
Het |
| Rlf |
T |
A |
4: 121,003,998 (GRCm39) |
M1771L |
possibly damaging |
Het |
| Rpap1 |
G |
A |
2: 119,594,891 (GRCm39) |
P1372L |
possibly damaging |
Het |
| Rragd |
A |
T |
4: 32,983,527 (GRCm39) |
D22V |
probably benign |
Het |
| Sema3f |
A |
T |
9: 107,560,774 (GRCm39) |
S644R |
probably benign |
Het |
| Sp110 |
G |
A |
1: 85,506,813 (GRCm39) |
R417C |
probably benign |
Het |
| Spata31h1 |
T |
A |
10: 82,130,490 (GRCm39) |
N840I |
probably damaging |
Het |
| Specc1l |
T |
A |
10: 75,093,703 (GRCm39) |
N717K |
probably damaging |
Het |
| Sphkap |
C |
T |
1: 83,256,649 (GRCm39) |
D367N |
possibly damaging |
Het |
| Tbc1d21 |
C |
T |
9: 58,268,544 (GRCm39) |
V272M |
probably damaging |
Het |
| Tlcd4 |
A |
G |
3: 121,028,690 (GRCm39) |
|
probably null |
Het |
| Tmem132c |
A |
G |
5: 127,640,070 (GRCm39) |
D747G |
probably damaging |
Het |
| Trim2 |
C |
A |
3: 84,098,213 (GRCm39) |
V372F |
probably benign |
Het |
| Ttc34 |
A |
G |
4: 154,945,841 (GRCm39) |
T292A |
probably benign |
Het |
| Ube3b |
A |
G |
5: 114,553,384 (GRCm39) |
T919A |
probably benign |
Het |
| Zfhx4 |
T |
C |
3: 5,477,540 (GRCm39) |
I3385T |
probably benign |
Het |
| Zfp423 |
T |
C |
8: 88,507,905 (GRCm39) |
K813R |
probably damaging |
Het |
| Zfp850 |
T |
C |
7: 27,688,634 (GRCm39) |
T525A |
probably benign |
Het |
| Zfp873 |
T |
C |
10: 81,896,109 (GRCm39) |
I280T |
possibly damaging |
Het |
| Zkscan7 |
A |
G |
9: 122,725,121 (GRCm39) |
T697A |
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 |
|
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'- GGAGCCAAAGCAATAATGACTC -3'
(R):5'- TACTGTTTATTCCTAACCTCTGAGG -3'
Sequencing Primer
(F):5'- TGGAACTCACTCTGTAGACCAGG -3'
(R):5'- TGGCCTCAAAGCATAGCTG -3'
|
| Posted On |
2019-10-24 |
Incidental Mutation