Incidental Mutation 'R9178:Rc3h2'
| ID |
696798 |
| 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 |
068978-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R9178 (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 37295264 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Cysteine to Serine
at position 251
(C251S)
|
| 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: C251S
PolyPhen 2
Score 0.771 (Sensitivity: 0.85; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000097721
Gene: ENSMUSG00000075376
AA Change: C251S
| 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: C251S
PolyPhen 2
Score 0.771 (Sensitivity: 0.85; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000108556
Gene: ENSMUSG00000075376
AA Change: C251S
| 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: C251S
PolyPhen 2
Score 0.771 (Sensitivity: 0.85; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000108558
Gene: ENSMUSG00000075376
AA Change: C251S
| 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: ENSMUST00000125619
AA Change: C251S
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000145082
Gene: ENSMUSG00000075376
AA Change: C251S
| 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 |
0.5294 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.4%
|
| Validation Efficiency |
100% (74/74) |
| 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: 76 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930563M21Rik |
T |
A |
9: 55,880,992 (GRCm39) |
T146S |
unknown |
Het |
| Abca8b |
A |
T |
11: 109,840,937 (GRCm39) |
F1079I |
probably benign |
Het |
| Adcy10 |
A |
T |
1: 165,403,218 (GRCm39) |
Q1572L |
possibly damaging |
Het |
| Akna |
T |
C |
4: 63,312,846 (GRCm39) |
T426A |
possibly damaging |
Het |
| Alkbh8 |
A |
G |
9: 3,338,448 (GRCm39) |
|
probably benign |
Het |
| Apc2 |
G |
A |
10: 80,150,235 (GRCm39) |
G1763E |
probably benign |
Het |
| Bmp1 |
G |
T |
14: 70,727,613 (GRCm39) |
R657S |
possibly damaging |
Het |
| Calm1 |
G |
A |
12: 100,171,979 (GRCm39) |
|
probably null |
Het |
| Ccdc150 |
C |
A |
1: 54,311,644 (GRCm39) |
A210E |
probably damaging |
Het |
| Cdc42bpa |
T |
C |
1: 179,958,401 (GRCm39) |
I275T |
|
Het |
| Cfap54 |
G |
T |
10: 92,830,579 (GRCm39) |
Q1186K |
probably benign |
Het |
| Col6a6 |
A |
G |
9: 105,659,169 (GRCm39) |
V592A |
probably benign |
Het |
| Colec11 |
A |
T |
12: 28,644,854 (GRCm39) |
N213K |
possibly damaging |
Het |
| Dennd2b |
C |
T |
7: 109,156,291 (GRCm39) |
G153D |
probably benign |
Het |
| Dennd5b |
G |
A |
6: 148,934,844 (GRCm39) |
R676* |
probably null |
Het |
| Dnaaf5 |
T |
G |
5: 139,138,652 (GRCm39) |
Y278D |
probably damaging |
Het |
| Dop1a |
T |
A |
9: 86,371,796 (GRCm39) |
Y162* |
probably null |
Het |
| Dync1li2 |
A |
G |
8: 105,150,255 (GRCm39) |
L369P |
possibly damaging |
Het |
| Ebf1 |
A |
G |
11: 44,883,276 (GRCm39) |
T505A |
probably benign |
Het |
| Ebf1 |
A |
G |
11: 44,895,548 (GRCm39) |
I584M |
probably benign |
Het |
| Eif1ad17 |
A |
G |
12: 87,978,786 (GRCm39) |
R57G |
probably damaging |
Het |
| Frmpd1 |
T |
C |
4: 45,285,367 (GRCm39) |
L1396P |
probably damaging |
Het |
| Gart |
A |
T |
16: 91,430,904 (GRCm39) |
V386D |
possibly damaging |
Het |
| Gprin1 |
C |
T |
13: 54,885,601 (GRCm39) |
R891H |
probably damaging |
Het |
| Gsap |
G |
A |
5: 21,422,471 (GRCm39) |
V147I |
probably damaging |
Het |
| Gsc |
G |
T |
12: 104,439,120 (GRCm39) |
Y85* |
probably null |
Het |
| Gtf2a1l |
A |
G |
17: 88,976,152 (GRCm39) |
N5S |
|
Het |
| Hmcn2 |
T |
C |
2: 31,281,521 (GRCm39) |
V1912A |
possibly damaging |
Het |
| Icos |
G |
T |
1: 61,034,714 (GRCm39) |
S179I |
probably damaging |
Het |
| Ifi209 |
T |
C |
1: 173,464,969 (GRCm39) |
L33P |
probably damaging |
Het |
| Igsf10 |
A |
G |
3: 59,233,480 (GRCm39) |
I1751T |
possibly damaging |
Het |
| Il31ra |
T |
C |
13: 112,677,780 (GRCm39) |
Y252C |
probably damaging |
Het |
| Ints6 |
A |
T |
14: 62,947,036 (GRCm39) |
S310T |
probably damaging |
Het |
| Kcng1 |
A |
T |
2: 168,111,105 (GRCm39) |
S20T |
possibly damaging |
Het |
| Klf15 |
T |
C |
6: 90,444,091 (GRCm39) |
I222T |
probably damaging |
Het |
| Lmo7 |
A |
T |
14: 102,044,906 (GRCm39) |
K53* |
probably null |
Het |
| Map10 |
C |
A |
8: 126,397,649 (GRCm39) |
N347K |
probably damaging |
Het |
| Mrps11 |
C |
A |
7: 78,440,444 (GRCm39) |
T111K |
probably damaging |
Het |
| Myom3 |
T |
G |
4: 135,506,710 (GRCm39) |
D494E |
probably benign |
Het |
| Naalad2 |
T |
A |
9: 18,242,152 (GRCm39) |
Y584F |
probably damaging |
Het |
| Ndufa9 |
A |
G |
6: 126,826,050 (GRCm39) |
V9A |
probably benign |
Het |
| Nrcam |
G |
T |
12: 44,615,329 (GRCm39) |
V640F |
possibly damaging |
Het |
| Or10x4 |
C |
T |
1: 174,219,229 (GRCm39) |
T198I |
probably benign |
Het |
| Or2t48 |
C |
A |
11: 58,420,473 (GRCm39) |
G113V |
probably damaging |
Het |
| Or52d1 |
T |
C |
7: 103,755,720 (GRCm39) |
M78T |
probably benign |
Het |
| Or5ak23 |
G |
A |
2: 85,244,848 (GRCm39) |
A125V |
probably damaging |
Het |
| Pcdhga8 |
T |
A |
18: 37,860,892 (GRCm39) |
H649Q |
probably benign |
Het |
| Pdk1 |
C |
A |
2: 71,730,402 (GRCm39) |
H413Q |
probably benign |
Het |
| Pfkm |
T |
A |
15: 98,027,161 (GRCm39) |
H611Q |
probably damaging |
Het |
| Polr3g |
T |
C |
13: 81,842,535 (GRCm39) |
Y160C |
unknown |
Het |
| Ppargc1b |
A |
T |
18: 61,443,993 (GRCm39) |
M406K |
probably benign |
Het |
| Ptf1a |
C |
T |
2: 19,450,536 (GRCm39) |
|
probably benign |
Het |
| Rnf32 |
A |
G |
5: 29,411,211 (GRCm39) |
T166A |
possibly damaging |
Het |
| Sav1 |
A |
T |
12: 70,022,790 (GRCm39) |
V254E |
probably damaging |
Het |
| Sel1l |
T |
C |
12: 91,797,526 (GRCm39) |
N234D |
probably benign |
Het |
| Setd1a |
C |
T |
7: 127,385,590 (GRCm39) |
P766S |
possibly damaging |
Het |
| Skida1 |
T |
A |
2: 18,050,489 (GRCm39) |
K801* |
probably null |
Het |
| Slc22a5 |
G |
A |
11: 53,774,547 (GRCm39) |
T146I |
probably benign |
Het |
| Slc25a24 |
G |
T |
3: 109,064,268 (GRCm39) |
A206S |
possibly damaging |
Het |
| Slc39a6 |
G |
A |
18: 24,733,970 (GRCm39) |
R240W |
probably damaging |
Het |
| Ssc5d |
T |
A |
7: 4,930,058 (GRCm39) |
D46E |
probably damaging |
Het |
| Tekt4 |
C |
T |
17: 25,690,901 (GRCm39) |
A69V |
possibly damaging |
Het |
| Tmigd1 |
T |
A |
11: 76,804,878 (GRCm39) |
F239Y |
probably benign |
Het |
| Tpp1 |
T |
A |
7: 105,400,846 (GRCm39) |
R60S |
probably benign |
Het |
| Trank1 |
A |
T |
9: 111,196,268 (GRCm39) |
I1431F |
probably damaging |
Het |
| Trav15-1-dv6-1 |
G |
T |
14: 53,797,519 (GRCm39) |
W56L |
probably damaging |
Het |
| Ugt2b38 |
A |
G |
5: 87,568,396 (GRCm39) |
S300P |
probably damaging |
Het |
| Urah |
T |
A |
7: 140,417,587 (GRCm39) |
L119Q |
unknown |
Het |
| Uspl1 |
T |
A |
5: 149,141,148 (GRCm39) |
F382L |
probably damaging |
Het |
| Vps9d1 |
T |
A |
8: 123,975,574 (GRCm39) |
Q157L |
probably damaging |
Het |
| Wbp1l |
G |
A |
19: 46,640,933 (GRCm39) |
V88I |
probably benign |
Het |
| Zfp444 |
T |
C |
7: 6,191,157 (GRCm39) |
S113P |
probably damaging |
Het |
| Zfp580 |
T |
G |
7: 5,056,152 (GRCm39) |
S171A |
possibly damaging |
Het |
| Zfp607a |
A |
G |
7: 27,577,382 (GRCm39) |
I151V |
probably benign |
Het |
| Zfp827 |
T |
C |
8: 79,818,564 (GRCm39) |
F614S |
probably damaging |
Het |
| Zic4 |
A |
T |
9: 91,260,913 (GRCm39) |
Q56L |
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 |
|
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'- AAAATTTCCTCCTCTATCGAAGTCTGC -3'
(R):5'- GCTATGCAAGAAGAAGCCTTG -3'
Sequencing Primer
(F):5'- CCTCTATCGAAGTCTGCAATATTTG -3'
(R):5'- AAGAAGCCTTGAAGTTGGTATTGC -3'
|
| Posted On |
2022-02-07 |
Incidental Mutation