Incidental Mutation 'R2354:Zc3h12d'
| ID |
246835 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Zc3h12d
|
| Ensembl Gene |
ENSMUSG00000039981 |
| Gene Name |
zinc finger CCCH type containing 12D |
| Synonyms |
TFL, D730019B10Rik |
| MMRRC Submission |
040336-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.092)
|
| Stock # |
R2354 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
10 |
| Chromosomal Location |
7708234-7746160 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 7743702 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Leucine
at position 491
(V491L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000040217
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000039484]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000039484
AA Change: V491L
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000040217
Gene: ENSMUSG00000039981
AA Change: V491L
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:RNase_Zc3h12a
|
91 |
247 |
4e-67 |
PFAM |
|
low complexity region
|
333 |
345 |
N/A |
INTRINSIC |
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.2%
|
| Validation Efficiency |
97% (34/35) |
| 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: 34 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ap3b2 |
C |
T |
7: 81,123,598 (GRCm39) |
|
probably benign |
Het |
| B4galt3 |
C |
A |
1: 171,101,613 (GRCm39) |
H196N |
probably damaging |
Het |
| Bpifb9b |
C |
T |
2: 154,153,662 (GRCm39) |
L243F |
probably benign |
Het |
| Cd226 |
A |
T |
18: 89,265,107 (GRCm39) |
|
probably null |
Het |
| Cdh15 |
G |
A |
8: 123,588,763 (GRCm39) |
R279Q |
probably damaging |
Het |
| Cep295 |
A |
G |
9: 15,246,080 (GRCm39) |
I792T |
possibly damaging |
Het |
| Cfap46 |
T |
C |
7: 139,240,962 (GRCm39) |
Y469C |
probably damaging |
Het |
| Col9a2 |
C |
G |
4: 120,911,455 (GRCm39) |
R599G |
probably damaging |
Het |
| D630045J12Rik |
G |
A |
6: 38,135,026 (GRCm39) |
P1385S |
possibly damaging |
Het |
| Ddb1 |
A |
T |
19: 10,584,337 (GRCm39) |
M64L |
probably benign |
Het |
| Dyrk1b |
G |
A |
7: 27,884,797 (GRCm39) |
R404Q |
possibly damaging |
Het |
| Gal3st2b |
A |
G |
1: 93,867,508 (GRCm39) |
T52A |
probably damaging |
Het |
| Galk2 |
C |
A |
2: 125,773,193 (GRCm39) |
S208R |
probably benign |
Het |
| Hap1 |
A |
T |
11: 100,245,541 (GRCm39) |
I141N |
probably damaging |
Het |
| Hif3a |
T |
C |
7: 16,775,030 (GRCm39) |
S523G |
probably damaging |
Het |
| Kirrel1 |
C |
T |
3: 86,995,792 (GRCm39) |
V381I |
probably damaging |
Het |
| Lmbrd1 |
T |
C |
1: 24,724,622 (GRCm39) |
S69P |
probably damaging |
Het |
| Lrriq1 |
C |
T |
10: 103,025,848 (GRCm39) |
V925M |
probably damaging |
Het |
| Mmp16 |
A |
G |
4: 18,112,001 (GRCm39) |
Y459C |
probably damaging |
Het |
| Mtr |
A |
G |
13: 12,203,043 (GRCm39) |
|
probably benign |
Het |
| Nadk2 |
T |
A |
15: 9,085,862 (GRCm39) |
I167N |
probably damaging |
Het |
| Neo1 |
A |
G |
9: 58,892,917 (GRCm39) |
F242L |
probably benign |
Het |
| Pitpnm2 |
A |
T |
5: 124,260,982 (GRCm39) |
V1010E |
probably damaging |
Het |
| Prp2rt |
G |
A |
13: 97,235,309 (GRCm39) |
T146I |
probably damaging |
Het |
| Semp2l2b |
G |
T |
10: 21,943,155 (GRCm39) |
T275K |
probably benign |
Het |
| Shox2 |
A |
G |
3: 66,888,822 (GRCm39) |
I23T |
possibly damaging |
Het |
| Slc5a12 |
T |
C |
2: 110,439,777 (GRCm39) |
V141A |
probably damaging |
Het |
| Sstr5 |
A |
G |
17: 25,710,875 (GRCm39) |
I118T |
probably benign |
Het |
| Taar4 |
A |
G |
10: 23,836,912 (GRCm39) |
N174S |
probably damaging |
Het |
| Tpcn2 |
C |
A |
7: 144,810,955 (GRCm39) |
G581W |
probably damaging |
Het |
| Umod |
C |
T |
7: 119,065,416 (GRCm39) |
V538M |
probably damaging |
Het |
| Vmn2r44 |
T |
G |
7: 8,373,639 (GRCm39) |
S517R |
probably damaging |
Het |
| Zfp358 |
A |
T |
8: 3,545,454 (GRCm39) |
H12L |
possibly damaging |
Het |
| Zkscan7 |
A |
G |
9: 122,723,892 (GRCm39) |
D287G |
probably benign |
Het |
|
| Other mutations in Zc3h12d |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00095:Zc3h12d
|
APN |
10 |
7,738,231 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- TTCCAGGGACATGCACAGTG -3'
(R):5'- AACGGCGTCCAACCTAATG -3'
Sequencing Primer
(F):5'- ATGCACAGTGACCTGCCTC -3'
(R):5'- TCCAGACTAACAAGCGTCTTG -3'
|
| Posted On |
2014-10-30 |
Incidental Mutation