Incidental Mutation 'R8324:Rc3h2'
| ID |
643965 |
| 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 |
067725-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R8324 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
2 |
| Chromosomal Location |
37260081-37312915 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 37290738 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Serine
at position 255
(T255S)
|
| 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: T255S
PolyPhen 2
Score 0.767 (Sensitivity: 0.85; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000097721
Gene: ENSMUSG00000075376
AA Change: T255S
| 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: T255S
PolyPhen 2
Score 0.767 (Sensitivity: 0.85; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000108556
Gene: ENSMUSG00000075376
AA Change: T255S
| 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: T255S
PolyPhen 2
Score 0.767 (Sensitivity: 0.85; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000108558
Gene: ENSMUSG00000075376
AA Change: T255S
| 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: T255S
PolyPhen 2
Score 0.968 (Sensitivity: 0.77; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000145082
Gene: ENSMUSG00000075376
AA Change: T255S
| 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: 99.9%
- 10x: 99.6%
- 20x: 98.6%
|
| 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: 70 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca13 |
T |
C |
11: 9,240,395 (GRCm39) |
S753P |
probably damaging |
Het |
| Acan |
A |
G |
7: 78,740,804 (GRCm39) |
E390G |
probably damaging |
Het |
| Antxr2 |
T |
C |
5: 98,086,368 (GRCm39) |
N413S |
probably damaging |
Het |
| Bace2 |
C |
T |
16: 97,158,108 (GRCm39) |
A36V |
possibly damaging |
Het |
| Caprin1 |
G |
A |
2: 103,613,526 (GRCm39) |
R79* |
probably null |
Het |
| Cdan1 |
A |
G |
2: 120,557,806 (GRCm39) |
V507A |
probably benign |
Het |
| Cdkl3 |
T |
A |
11: 51,913,706 (GRCm39) |
|
probably null |
Het |
| Chst5 |
A |
T |
8: 112,617,140 (GRCm39) |
L160Q |
probably benign |
Het |
| Col11a1 |
C |
G |
3: 113,958,059 (GRCm39) |
P1111R |
probably damaging |
Het |
| Col6a6 |
T |
A |
9: 105,632,853 (GRCm39) |
E1470D |
probably benign |
Het |
| Cpped1 |
T |
A |
16: 11,623,340 (GRCm39) |
T274S |
probably benign |
Het |
| Ctnnbl1 |
G |
A |
2: 157,621,735 (GRCm39) |
E75K |
probably damaging |
Het |
| Cyp4f40 |
T |
C |
17: 32,878,502 (GRCm39) |
S15P |
probably benign |
Het |
| Ddx46 |
T |
C |
13: 55,811,727 (GRCm39) |
S643P |
probably damaging |
Het |
| Defb34 |
A |
G |
8: 19,173,814 (GRCm39) |
Q16R |
probably null |
Het |
| Dhrs2 |
T |
A |
14: 55,476,221 (GRCm39) |
V147E |
probably damaging |
Het |
| Dnah5 |
G |
T |
15: 28,347,011 (GRCm39) |
R2498L |
probably damaging |
Het |
| Dpp10 |
T |
A |
1: 123,781,901 (GRCm39) |
I93F |
probably benign |
Het |
| Eef1e1 |
T |
A |
13: 38,839,045 (GRCm39) |
D104V |
probably damaging |
Het |
| Egfr |
A |
G |
11: 16,808,971 (GRCm39) |
Y55C |
probably damaging |
Het |
| Egfr |
A |
C |
11: 16,858,885 (GRCm39) |
I955L |
probably damaging |
Het |
| Ehbp1l1 |
C |
A |
19: 5,770,026 (GRCm39) |
V426F |
possibly damaging |
Het |
| Elp1 |
C |
T |
4: 56,772,491 (GRCm39) |
E877K |
probably damaging |
Het |
| Fam234a |
C |
T |
17: 26,437,672 (GRCm39) |
V108I |
probably benign |
Het |
| Fzd8 |
T |
A |
18: 9,214,688 (GRCm39) |
M590K |
probably damaging |
Het |
| Gm13287 |
T |
C |
4: 88,721,875 (GRCm39) |
S129P |
probably damaging |
Het |
| Heatr5b |
A |
G |
17: 79,062,793 (GRCm39) |
S1919P |
possibly damaging |
Het |
| Hspg2 |
C |
G |
4: 137,246,290 (GRCm39) |
P1023A |
possibly damaging |
Het |
| Itpr2 |
T |
C |
6: 146,229,896 (GRCm39) |
E1233G |
probably damaging |
Het |
| Kcnmb4 |
A |
G |
10: 116,254,219 (GRCm39) |
L186P |
probably damaging |
Het |
| Krt72 |
T |
A |
15: 101,690,580 (GRCm39) |
Y224F |
probably damaging |
Het |
| Loxhd1 |
T |
C |
18: 77,427,275 (GRCm39) |
|
probably null |
Het |
| Lrguk |
A |
G |
6: 34,079,506 (GRCm39) |
T914A |
probably benign |
Het |
| Lrrtm4 |
A |
G |
6: 79,998,974 (GRCm39) |
T129A |
probably damaging |
Het |
| Mmp13 |
A |
T |
9: 7,276,636 (GRCm39) |
I244F |
possibly damaging |
Het |
| Mob1a |
T |
A |
6: 83,306,956 (GRCm39) |
L41Q |
probably damaging |
Het |
| Mtcl1 |
T |
C |
17: 66,743,212 (GRCm39) |
R426G |
probably damaging |
Het |
| Mybbp1a |
T |
C |
11: 72,336,114 (GRCm39) |
|
probably null |
Het |
| Myh9 |
A |
G |
15: 77,673,117 (GRCm39) |
|
probably null |
Het |
| Myo1d |
T |
A |
11: 80,448,347 (GRCm39) |
D926V |
probably damaging |
Het |
| Ncapg |
T |
G |
5: 45,853,010 (GRCm39) |
H825Q |
probably damaging |
Het |
| Olfml1 |
T |
C |
7: 107,189,570 (GRCm39) |
S212P |
probably benign |
Het |
| Or52p1 |
G |
A |
7: 104,267,321 (GRCm39) |
R145H |
probably benign |
Het |
| Pak2 |
T |
C |
16: 31,871,029 (GRCm39) |
N51S |
probably benign |
Het |
| Papln |
T |
C |
12: 83,833,393 (GRCm39) |
Y1132H |
probably damaging |
Het |
| Pax3 |
T |
A |
1: 78,170,426 (GRCm39) |
R134S |
probably damaging |
Het |
| Pdzrn4 |
A |
G |
15: 92,668,818 (GRCm39) |
E990G |
probably damaging |
Het |
| Peak1 |
A |
T |
9: 56,114,760 (GRCm39) |
W1394R |
probably damaging |
Het |
| Pkn2 |
T |
C |
3: 142,534,771 (GRCm39) |
N285D |
probably benign |
Het |
| Pramel13 |
A |
C |
4: 144,122,427 (GRCm39) |
L39R |
probably damaging |
Het |
| Prrc2a |
A |
G |
17: 35,375,960 (GRCm39) |
S897P |
possibly damaging |
Het |
| Rad51 |
A |
G |
2: 118,954,312 (GRCm39) |
T131A |
possibly damaging |
Het |
| Repin1 |
G |
T |
6: 48,574,279 (GRCm39) |
E403* |
probably null |
Het |
| Rictor |
T |
A |
15: 6,775,043 (GRCm39) |
V125E |
probably damaging |
Het |
| Rps6ka5 |
C |
T |
12: 100,524,746 (GRCm39) |
D664N |
possibly damaging |
Het |
| Rreb1 |
T |
A |
13: 38,131,597 (GRCm39) |
W1584R |
probably damaging |
Het |
| Rxra |
T |
C |
2: 27,631,195 (GRCm39) |
I142T |
probably damaging |
Het |
| Sall2 |
T |
C |
14: 52,550,343 (GRCm39) |
T951A |
probably benign |
Het |
| Slc15a2 |
T |
G |
16: 36,579,669 (GRCm39) |
N359T |
probably damaging |
Het |
| Slc23a1 |
C |
T |
18: 35,755,588 (GRCm39) |
G436E |
probably damaging |
Het |
| Slc6a13 |
T |
C |
6: 121,314,373 (GRCm39) |
*603Q |
probably null |
Het |
| Sptb |
T |
C |
12: 76,665,936 (GRCm39) |
D894G |
possibly damaging |
Het |
| Srgn |
A |
G |
10: 62,343,444 (GRCm39) |
L17P |
probably damaging |
Het |
| Tmprss9 |
T |
C |
10: 80,733,205 (GRCm39) |
|
probably null |
Het |
| Trav9n-4 |
T |
C |
14: 53,532,403 (GRCm39) |
F86L |
probably benign |
Het |
| Trp63 |
A |
G |
16: 25,695,484 (GRCm39) |
Y482C |
unknown |
Het |
| Ttc9b |
G |
T |
7: 27,353,394 (GRCm39) |
A15S |
probably damaging |
Het |
| Urb1 |
A |
T |
16: 90,588,078 (GRCm39) |
I410N |
probably damaging |
Het |
| Vmn2r82 |
A |
T |
10: 79,214,727 (GRCm39) |
K237* |
probably null |
Het |
| Wwox |
G |
A |
8: 115,215,745 (GRCm39) |
|
probably null |
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 |
|
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'- TTTATGAGCCAAGTCCCCATACAG -3'
(R):5'- TCCTGCCAAATGCTGATGAACTC -3'
Sequencing Primer
(F):5'- GTCCCCATACAGCAGTGAAG -3'
(R):5'- CTGGTATATAACCCCTTCAGC -3'
|
| Posted On |
2020-09-02 |
Incidental Mutation