Incidental Mutation 'R8209:Rc3h2'
| ID |
636041 |
| 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 |
067632-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R8209 (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 37267001 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Phenylalanine
at position 1040
(Y1040F)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000097721
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000100143]
[ENSMUST00000112934]
[ENSMUST00000112936]
[ENSMUST00000125619]
|
| AlphaFold |
P0C090 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000100143
AA Change: Y1040F
PolyPhen 2
Score 0.767 (Sensitivity: 0.85; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000097721
Gene: ENSMUSG00000075376
AA Change: Y1040F
| 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: Y1040F
PolyPhen 2
Score 0.767 (Sensitivity: 0.85; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000108556
Gene: ENSMUSG00000075376
AA Change: Y1040F
| 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: Y1040F
PolyPhen 2
Score 0.767 (Sensitivity: 0.85; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000108558
Gene: ENSMUSG00000075376
AA Change: Y1040F
| 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: 99.9%
- 10x: 99.5%
- 20x: 98.4%
|
| 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: 55 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 9330159F19Rik |
A |
G |
10: 29,094,195 (GRCm39) |
N27S |
probably damaging |
Het |
| Akr1b1 |
G |
C |
6: 34,288,867 (GRCm39) |
T114R |
probably damaging |
Het |
| Alx4 |
T |
C |
2: 93,505,696 (GRCm39) |
M266T |
possibly damaging |
Het |
| Arhgap21 |
C |
T |
2: 20,876,556 (GRCm39) |
D820N |
probably damaging |
Het |
| Clec4a1 |
A |
G |
6: 122,907,773 (GRCm39) |
S154G |
probably damaging |
Het |
| Col11a2 |
T |
C |
17: 34,266,253 (GRCm39) |
|
probably null |
Het |
| Dnaaf2 |
A |
T |
12: 69,244,866 (GRCm39) |
V65E |
probably damaging |
Het |
| Dnah14 |
A |
G |
1: 181,623,110 (GRCm39) |
E3996G |
possibly damaging |
Het |
| Dsg1b |
A |
G |
18: 20,541,947 (GRCm39) |
Y818C |
probably benign |
Het |
| Dzip3 |
C |
T |
16: 48,798,307 (GRCm39) |
G133S |
probably damaging |
Het |
| Efcab6 |
T |
C |
15: 83,788,456 (GRCm39) |
Y946C |
probably benign |
Het |
| Eprs1 |
A |
G |
1: 185,139,812 (GRCm39) |
E967G |
possibly damaging |
Het |
| F5 |
T |
C |
1: 164,021,959 (GRCm39) |
V1478A |
probably benign |
Het |
| Fchsd2 |
C |
T |
7: 100,931,679 (GRCm39) |
P745L |
probably damaging |
Het |
| Gart |
T |
C |
16: 91,425,041 (GRCm39) |
I661V |
possibly damaging |
Het |
| Gm14295 |
T |
A |
2: 176,502,970 (GRCm39) |
I820K |
unknown |
Het |
| Grb10 |
G |
T |
11: 11,901,533 (GRCm39) |
L214M |
probably damaging |
Het |
| Gria2 |
A |
G |
3: 80,616,764 (GRCm39) |
V396A |
probably benign |
Het |
| Il17rc |
C |
A |
6: 113,449,771 (GRCm39) |
Q126K |
probably benign |
Het |
| Ipo8 |
A |
G |
6: 148,698,176 (GRCm39) |
I615T |
possibly damaging |
Het |
| Irak4 |
T |
A |
15: 94,456,244 (GRCm39) |
L277Q |
probably damaging |
Het |
| Islr |
T |
C |
9: 58,065,340 (GRCm39) |
S56G |
probably damaging |
Het |
| Krt78 |
A |
T |
15: 101,855,480 (GRCm39) |
M777K |
possibly damaging |
Het |
| Lrch4 |
A |
G |
5: 137,637,997 (GRCm39) |
H93R |
|
Het |
| Muc21 |
T |
C |
17: 35,930,599 (GRCm39) |
|
probably benign |
Het |
| Nbeal1 |
A |
T |
1: 60,316,336 (GRCm39) |
K1846N |
probably damaging |
Het |
| Nedd1 |
T |
A |
10: 92,527,797 (GRCm39) |
M466L |
probably benign |
Het |
| Nup107 |
T |
C |
10: 117,593,836 (GRCm39) |
K786E |
probably benign |
Het |
| Or51f23b |
T |
C |
7: 102,402,950 (GRCm39) |
Y62C |
probably benign |
Het |
| Or5ak25 |
T |
A |
2: 85,268,981 (GRCm39) |
I174F |
probably damaging |
Het |
| Or5m12 |
T |
C |
2: 85,734,547 (GRCm39) |
I284V |
probably benign |
Het |
| Phc2 |
T |
C |
4: 128,603,299 (GRCm39) |
L143P |
probably benign |
Het |
| Pkhd1l1 |
A |
G |
15: 44,437,803 (GRCm39) |
N3533D |
possibly damaging |
Het |
| Plpp1 |
A |
T |
13: 113,003,465 (GRCm39) |
T230S |
probably benign |
Het |
| Prokr2 |
C |
A |
2: 132,215,961 (GRCm39) |
A167S |
probably damaging |
Het |
| Qser1 |
C |
T |
2: 104,619,070 (GRCm39) |
A491T |
probably benign |
Het |
| Rgl2 |
C |
T |
17: 34,151,501 (GRCm39) |
L182F |
possibly damaging |
Het |
| Rnf130 |
T |
C |
11: 49,962,097 (GRCm39) |
V181A |
probably benign |
Het |
| Scn7a |
T |
G |
2: 66,531,204 (GRCm39) |
I558L |
possibly damaging |
Het |
| Shtn1 |
T |
C |
19: 58,992,328 (GRCm39) |
I417V |
possibly damaging |
Het |
| Slco1a5 |
T |
G |
6: 142,208,408 (GRCm39) |
N128H |
probably damaging |
Het |
| Smg5 |
C |
T |
3: 88,258,838 (GRCm39) |
A603V |
probably benign |
Het |
| Svs3b |
T |
A |
2: 164,098,140 (GRCm39) |
E60D |
possibly damaging |
Het |
| Thap1 |
CAGCATCTGCTCGGAGCA |
CAGCA |
8: 26,650,884 (GRCm39) |
|
probably null |
Het |
| Timm44 |
A |
T |
8: 4,316,844 (GRCm39) |
M263K |
probably benign |
Het |
| Tmem150b |
A |
G |
7: 4,723,691 (GRCm39) |
L162P |
probably damaging |
Het |
| Tmprss11f |
A |
G |
5: 86,687,566 (GRCm39) |
V114A |
probably damaging |
Het |
| Trak1 |
C |
T |
9: 121,280,793 (GRCm39) |
T394I |
probably benign |
Het |
| Tram2 |
A |
C |
1: 21,075,801 (GRCm39) |
Y206D |
probably damaging |
Het |
| Trhde |
C |
T |
10: 114,403,133 (GRCm39) |
V497M |
probably damaging |
Het |
| Trpc2 |
A |
G |
7: 101,737,482 (GRCm39) |
M425V |
possibly damaging |
Het |
| Tuba1b |
C |
T |
15: 98,829,591 (GRCm39) |
G410S |
probably benign |
Het |
| Vmn2r1 |
A |
G |
3: 63,997,199 (GRCm39) |
D285G |
possibly damaging |
Het |
| Zfp536 |
A |
T |
7: 37,268,080 (GRCm39) |
S445R |
probably benign |
Het |
| Zfp606 |
A |
T |
7: 12,227,234 (GRCm39) |
T452S |
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 |
|
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'- GAACTGATACCAAGTTGTATGTCC -3'
(R):5'- AATTCCCTGGATGAAGGCCG -3'
Sequencing Primer
(F):5'- CCAAGTTGTATGTCCAAAATTTCCTG -3'
(R):5'- AGGCCGTCACCTTACTTTAAATC -3'
|
| Posted On |
2020-07-13 |
Incidental Mutation