Incidental Mutation 'IGL02174:Rc3h2'
| ID |
283014 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Rc3h2
|
| Ensembl Gene |
ENSMUSG00000075376 |
| Gene Name |
ring finger and CCCH-type zinc finger domains 2 |
| Synonyms |
D930043C02Rik, Mnab, 2900024N03Rik, Rnf164, 9430019J22Rik |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL02174
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
2 |
| Chromosomal Location |
37260081-37312915 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 37301237 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Lysine
at position 88
(N88K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000145082
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000100143]
[ENSMUST00000112934]
[ENSMUST00000112936]
[ENSMUST00000125619]
|
| AlphaFold |
P0C090 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000100143
AA Change: N88K
PolyPhen 2
Score 0.045 (Sensitivity: 0.94; Specificity: 0.83)
|
| SMART Domains |
Protein: ENSMUSP00000097721
Gene: ENSMUSG00000075376
AA Change: N88K
| 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: ENSMUST00000112934
AA Change: N88K
PolyPhen 2
Score 0.045 (Sensitivity: 0.94; Specificity: 0.83)
|
| SMART Domains |
Protein: ENSMUSP00000108556
Gene: ENSMUSG00000075376
AA Change: N88K
| 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: ENSMUST00000112936
AA Change: N88K
PolyPhen 2
Score 0.045 (Sensitivity: 0.94; Specificity: 0.83)
|
| SMART Domains |
Protein: ENSMUSP00000108558
Gene: ENSMUSG00000075376
AA Change: N88K
| 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 |
noncoding transcript
Transcript: ENSMUST00000124218
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000125619
AA Change: N88K
PolyPhen 2
Score 0.114 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000145082
Gene: ENSMUSG00000075376
AA Change: N88K
| 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 |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000204690
|
| Coding Region Coverage |
|
| 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: 49 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc4 |
T |
C |
14: 118,738,154 (GRCm39) |
I1199V |
probably damaging |
Het |
| Adgrv1 |
G |
A |
13: 81,575,783 (GRCm39) |
T4861I |
probably benign |
Het |
| Ampd2 |
T |
C |
3: 107,987,601 (GRCm39) |
D108G |
probably damaging |
Het |
| Azin1 |
A |
G |
15: 38,493,730 (GRCm39) |
F298L |
probably benign |
Het |
| Bag1 |
T |
A |
4: 40,941,555 (GRCm39) |
E123D |
possibly damaging |
Het |
| Cabs1 |
A |
G |
5: 88,128,339 (GRCm39) |
E330G |
probably benign |
Het |
| Ccdc33 |
T |
C |
9: 57,940,938 (GRCm39) |
K435E |
probably benign |
Het |
| Clip2 |
T |
G |
5: 134,523,118 (GRCm39) |
K943T |
probably damaging |
Het |
| Cmya5 |
T |
C |
13: 93,185,415 (GRCm39) |
I3527V |
possibly damaging |
Het |
| Cyp2w1 |
C |
T |
5: 139,341,384 (GRCm39) |
R244C |
probably benign |
Het |
| Dcaf13 |
C |
A |
15: 39,001,544 (GRCm39) |
A284E |
probably damaging |
Het |
| Ddx31 |
T |
A |
2: 28,749,041 (GRCm39) |
L279Q |
probably damaging |
Het |
| Dgki |
A |
G |
6: 37,009,856 (GRCm39) |
L497P |
probably damaging |
Het |
| Dnah12 |
A |
T |
14: 26,428,072 (GRCm39) |
I233F |
probably benign |
Het |
| Dpp6 |
G |
T |
5: 27,926,085 (GRCm39) |
G720* |
probably null |
Het |
| Emc1 |
T |
C |
4: 139,098,979 (GRCm39) |
Y821H |
possibly damaging |
Het |
| Esr1 |
C |
T |
10: 4,948,003 (GRCm39) |
R519W |
probably damaging |
Het |
| Gamt |
A |
T |
10: 80,094,230 (GRCm39) |
V227E |
possibly damaging |
Het |
| Habp2 |
A |
G |
19: 56,300,169 (GRCm39) |
Q206R |
probably damaging |
Het |
| Ihh |
A |
G |
1: 74,990,105 (GRCm39) |
I90T |
probably damaging |
Het |
| Kif20b |
T |
C |
19: 34,911,858 (GRCm39) |
|
probably benign |
Het |
| Lcp2 |
T |
C |
11: 34,000,966 (GRCm39) |
|
probably benign |
Het |
| Lyrm2 |
A |
G |
4: 32,800,649 (GRCm39) |
I29V |
probably benign |
Het |
| Macf1 |
T |
C |
4: 123,385,587 (GRCm39) |
D1168G |
probably damaging |
Het |
| Mocos |
T |
C |
18: 24,828,953 (GRCm39) |
S753P |
probably benign |
Het |
| Myo3a |
A |
G |
2: 22,337,204 (GRCm39) |
E367G |
probably benign |
Het |
| Ndor1 |
G |
A |
2: 25,139,206 (GRCm39) |
A255V |
possibly damaging |
Het |
| Nfat5 |
C |
T |
8: 108,065,683 (GRCm39) |
P148S |
probably damaging |
Het |
| Or4c121 |
A |
T |
2: 89,023,712 (GRCm39) |
F222Y |
probably benign |
Het |
| Or5al7 |
T |
A |
2: 85,992,442 (GRCm39) |
M284L |
possibly damaging |
Het |
| Or6z7 |
T |
C |
7: 6,483,438 (GRCm39) |
Y239C |
probably benign |
Het |
| Or8b41 |
A |
T |
9: 38,055,081 (GRCm39) |
T217S |
possibly damaging |
Het |
| Pappa2 |
C |
T |
1: 158,589,188 (GRCm39) |
C1679Y |
probably damaging |
Het |
| Pcdhb2 |
T |
A |
18: 37,429,551 (GRCm39) |
I508N |
probably damaging |
Het |
| Pkd2l1 |
G |
A |
19: 44,145,707 (GRCm39) |
T172I |
probably benign |
Het |
| Pld5 |
A |
G |
1: 176,102,310 (GRCm39) |
V44A |
possibly damaging |
Het |
| Prss44 |
T |
C |
9: 110,646,199 (GRCm39) |
W309R |
probably damaging |
Het |
| Rspry1 |
A |
G |
8: 95,359,768 (GRCm39) |
I102M |
possibly damaging |
Het |
| Stab2 |
A |
G |
10: 86,695,606 (GRCm39) |
|
probably null |
Het |
| Tbx3 |
C |
A |
5: 119,813,649 (GRCm39) |
Y228* |
probably null |
Het |
| Tcf15 |
G |
T |
2: 151,986,065 (GRCm39) |
|
probably benign |
Het |
| Tmem41b |
A |
G |
7: 109,578,003 (GRCm39) |
S94P |
possibly damaging |
Het |
| Trmt10b |
A |
T |
4: 45,308,508 (GRCm39) |
I223F |
possibly damaging |
Het |
| Tyrp1 |
G |
T |
4: 80,763,063 (GRCm39) |
G317* |
probably null |
Het |
| Urod |
T |
A |
4: 116,847,479 (GRCm39) |
|
probably benign |
Het |
| Vwf |
G |
T |
6: 125,532,358 (GRCm39) |
R52L |
probably damaging |
Het |
| Wnk2 |
C |
A |
13: 49,210,643 (GRCm39) |
Q232H |
probably damaging |
Het |
| Zbtb10 |
C |
A |
3: 9,316,872 (GRCm39) |
P228Q |
probably damaging |
Het |
| Zfp764l1 |
G |
A |
7: 126,991,525 (GRCm39) |
T154I |
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 |
|
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 |
|
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 |
|
| Posted On |
2015-04-16 |
Incidental Mutation