Incidental Mutation 'IGL00095:Zc3h12d'
ID |
1263 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Zc3h12d
|
Ensembl Gene |
ENSMUSG00000039981 |
Gene Name |
zinc finger CCCH type containing 12D |
Synonyms |
TFL, D730019B10Rik |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.077)
|
Stock # |
IGL00095
|
Quality Score |
|
Status
|
|
Chromosome |
10 |
Chromosomal Location |
7708234-7746160 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 7738231 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Alanine
at position 179
(V179A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000040217
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000039484]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000039484
AA Change: V179A
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000040217 Gene: ENSMUSG00000039981 AA Change: V179A
Domain | Start | End | E-Value | Type |
Pfam:RNase_Zc3h12a
|
91 |
247 |
4e-67 |
PFAM |
low complexity region
|
333 |
345 |
N/A |
INTRINSIC |
|
Coding Region Coverage |
|
Validation Efficiency |
|
MGI Phenotype |
PHENOTYPE: Mice homozygous for a knock-out allele exhibit disrupted regulation of excessive inflammation. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 38 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Cadm2 |
A |
T |
16: 66,679,639 (GRCm39) |
Y65N |
probably damaging |
Het |
Catsperg2 |
C |
A |
7: 29,397,483 (GRCm39) |
C1042F |
possibly damaging |
Het |
Cluh |
T |
C |
11: 74,554,890 (GRCm39) |
V776A |
probably benign |
Het |
Crxos |
T |
A |
7: 15,632,543 (GRCm39) |
C116* |
probably null |
Het |
Csmd1 |
A |
G |
8: 16,059,297 (GRCm39) |
|
probably benign |
Het |
Cubn |
C |
A |
2: 13,496,631 (GRCm39) |
|
probably benign |
Het |
Exoc2 |
A |
G |
13: 31,004,609 (GRCm39) |
I858T |
probably benign |
Het |
Frmpd1 |
C |
A |
4: 45,279,456 (GRCm39) |
T727K |
possibly damaging |
Het |
Hapln3 |
T |
C |
7: 78,771,731 (GRCm39) |
T53A |
probably damaging |
Het |
Hnrnpul1 |
T |
A |
7: 25,425,579 (GRCm39) |
Q584L |
possibly damaging |
Het |
Ikbkb |
A |
T |
8: 23,196,127 (GRCm39) |
F26I |
probably damaging |
Het |
Il31ra |
A |
T |
13: 112,684,012 (GRCm39) |
I120N |
possibly damaging |
Het |
Itih1 |
C |
T |
14: 30,651,778 (GRCm39) |
V855M |
probably benign |
Het |
Krtap4-16 |
A |
G |
11: 99,742,032 (GRCm39) |
S123P |
possibly damaging |
Het |
Large1 |
C |
T |
8: 73,564,125 (GRCm39) |
R547Q |
probably damaging |
Het |
Madd |
A |
G |
2: 91,006,111 (GRCm39) |
|
probably benign |
Het |
Mark1 |
A |
G |
1: 184,630,800 (GRCm39) |
V770A |
probably damaging |
Het |
Mpeg1 |
T |
C |
19: 12,440,074 (GRCm39) |
F511L |
probably benign |
Het |
Mrgpra9 |
A |
G |
7: 46,884,839 (GRCm39) |
V276A |
possibly damaging |
Het |
Nav3 |
T |
C |
10: 109,677,594 (GRCm39) |
T666A |
probably damaging |
Het |
Ndufa8 |
T |
C |
2: 35,934,467 (GRCm39) |
D37G |
probably damaging |
Het |
Nlrx1 |
A |
G |
9: 44,164,576 (GRCm39) |
L956P |
probably damaging |
Het |
Nr5a1 |
T |
C |
2: 38,598,353 (GRCm39) |
E148G |
probably benign |
Het |
Or10ab5 |
A |
T |
7: 108,245,043 (GRCm39) |
F247I |
possibly damaging |
Het |
Or14c46 |
T |
C |
7: 85,918,877 (GRCm39) |
N40S |
probably damaging |
Het |
Otulinl |
A |
G |
15: 27,658,202 (GRCm39) |
S273P |
possibly damaging |
Het |
Patj |
A |
C |
4: 98,423,799 (GRCm39) |
Q1184P |
possibly damaging |
Het |
Phf20l1 |
A |
G |
15: 66,500,884 (GRCm39) |
T619A |
probably benign |
Het |
Pla2g6 |
T |
C |
15: 79,173,441 (GRCm39) |
T643A |
probably damaging |
Het |
Pramel42 |
T |
C |
5: 94,685,663 (GRCm39) |
L441P |
probably damaging |
Het |
Radil |
A |
G |
5: 142,483,677 (GRCm39) |
S510P |
probably damaging |
Het |
Spock1 |
A |
G |
13: 57,735,552 (GRCm39) |
|
probably benign |
Het |
Stag3 |
C |
T |
5: 138,297,400 (GRCm39) |
T577M |
probably damaging |
Het |
Tap2 |
C |
T |
17: 34,434,352 (GRCm39) |
R613C |
probably benign |
Het |
Tnn |
A |
G |
1: 159,953,021 (GRCm39) |
V673A |
possibly damaging |
Het |
Trrap |
T |
C |
5: 144,716,784 (GRCm39) |
|
probably benign |
Het |
Vmn2r28 |
T |
C |
7: 5,491,068 (GRCm39) |
D393G |
probably benign |
Het |
Zbtb48 |
T |
C |
4: 152,105,851 (GRCm39) |
H418R |
probably damaging |
Het |
|
Other mutations in Zc3h12d |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01013:Zc3h12d
|
APN |
10 |
7,715,720 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02090:Zc3h12d
|
APN |
10 |
7,743,096 (GRCm39) |
missense |
probably benign |
0.00 |
IGL02876:Zc3h12d
|
APN |
10 |
7,738,364 (GRCm39) |
missense |
probably damaging |
0.99 |
R0040:Zc3h12d
|
UTSW |
10 |
7,743,678 (GRCm39) |
missense |
probably benign |
0.02 |
R0040:Zc3h12d
|
UTSW |
10 |
7,743,678 (GRCm39) |
missense |
probably benign |
0.02 |
R0242:Zc3h12d
|
UTSW |
10 |
7,738,330 (GRCm39) |
missense |
probably damaging |
1.00 |
R0242:Zc3h12d
|
UTSW |
10 |
7,738,330 (GRCm39) |
missense |
probably damaging |
1.00 |
R1942:Zc3h12d
|
UTSW |
10 |
7,729,077 (GRCm39) |
missense |
probably damaging |
1.00 |
R2290:Zc3h12d
|
UTSW |
10 |
7,743,223 (GRCm39) |
missense |
probably benign |
0.00 |
R2354:Zc3h12d
|
UTSW |
10 |
7,743,702 (GRCm39) |
missense |
probably benign |
0.00 |
R4816:Zc3h12d
|
UTSW |
10 |
7,743,711 (GRCm39) |
missense |
probably damaging |
1.00 |
R4932:Zc3h12d
|
UTSW |
10 |
7,729,014 (GRCm39) |
missense |
probably damaging |
0.99 |
R5191:Zc3h12d
|
UTSW |
10 |
7,743,582 (GRCm39) |
missense |
possibly damaging |
0.51 |
R5384:Zc3h12d
|
UTSW |
10 |
7,729,014 (GRCm39) |
missense |
probably damaging |
1.00 |
R5396:Zc3h12d
|
UTSW |
10 |
7,742,090 (GRCm39) |
missense |
probably damaging |
1.00 |
R6409:Zc3h12d
|
UTSW |
10 |
7,743,082 (GRCm39) |
missense |
probably benign |
0.04 |
R6877:Zc3h12d
|
UTSW |
10 |
7,715,735 (GRCm39) |
missense |
probably damaging |
0.99 |
R6903:Zc3h12d
|
UTSW |
10 |
7,743,425 (GRCm39) |
missense |
probably benign |
|
R6967:Zc3h12d
|
UTSW |
10 |
7,715,644 (GRCm39) |
missense |
probably damaging |
1.00 |
R7312:Zc3h12d
|
UTSW |
10 |
7,743,345 (GRCm39) |
missense |
probably benign |
0.00 |
R7594:Zc3h12d
|
UTSW |
10 |
7,738,382 (GRCm39) |
missense |
probably damaging |
1.00 |
R7622:Zc3h12d
|
UTSW |
10 |
7,743,033 (GRCm39) |
missense |
probably damaging |
1.00 |
R7645:Zc3h12d
|
UTSW |
10 |
7,743,340 (GRCm39) |
missense |
probably benign |
|
R7769:Zc3h12d
|
UTSW |
10 |
7,743,390 (GRCm39) |
missense |
probably benign |
0.03 |
R7864:Zc3h12d
|
UTSW |
10 |
7,715,723 (GRCm39) |
missense |
possibly damaging |
0.83 |
R8371:Zc3h12d
|
UTSW |
10 |
7,715,735 (GRCm39) |
frame shift |
probably null |
|
R8414:Zc3h12d
|
UTSW |
10 |
7,715,735 (GRCm39) |
frame shift |
probably null |
|
R9255:Zc3h12d
|
UTSW |
10 |
7,729,022 (GRCm39) |
missense |
probably damaging |
1.00 |
R9470:Zc3h12d
|
UTSW |
10 |
7,743,321 (GRCm39) |
missense |
possibly damaging |
0.73 |
Z1177:Zc3h12d
|
UTSW |
10 |
7,743,572 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Posted On |
2011-07-12 |