Incidental Mutation 'R0374:Zc3h13'
| ID |
38537 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Zc3h13
|
| Ensembl Gene |
ENSMUSG00000022000 |
| Gene Name |
zinc finger CCCH type containing 13 |
| Synonyms |
3110050K21Rik, C87618, 4930570G11Rik, 2600010B19Rik |
| MMRRC Submission |
038580-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.964)
|
| Stock # |
R0374 (G1)
|
| Quality Score |
220 |
|
Status
|
Validated
|
| Chromosome |
14 |
| Chromosomal Location |
75521813-75581866 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 75546405 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Glutamic Acid
at position 169
(K169E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000153882
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000022577]
[ENSMUST00000227049]
|
| AlphaFold |
E9Q784 |
| Predicted Effect |
unknown
Transcript: ENSMUST00000022577
AA Change: K169E
|
| SMART Domains |
Protein: ENSMUSP00000022577
Gene: ENSMUSG00000022000
AA Change: K169E
| Domain | Start | End | E-Value | Type |
|---|
|
ZnF_C3H1
|
36 |
63 |
4.54e-4 |
SMART |
|
low complexity region
|
136 |
145 |
N/A |
INTRINSIC |
|
coiled coil region
|
162 |
197 |
N/A |
INTRINSIC |
|
low complexity region
|
204 |
233 |
N/A |
INTRINSIC |
|
low complexity region
|
261 |
269 |
N/A |
INTRINSIC |
|
low complexity region
|
278 |
287 |
N/A |
INTRINSIC |
|
low complexity region
|
321 |
357 |
N/A |
INTRINSIC |
|
low complexity region
|
411 |
478 |
N/A |
INTRINSIC |
|
low complexity region
|
482 |
493 |
N/A |
INTRINSIC |
|
low complexity region
|
496 |
575 |
N/A |
INTRINSIC |
|
low complexity region
|
684 |
701 |
N/A |
INTRINSIC |
|
coiled coil region
|
706 |
865 |
N/A |
INTRINSIC |
|
low complexity region
|
907 |
918 |
N/A |
INTRINSIC |
|
internal_repeat_1
|
921 |
948 |
1.8e-6 |
PROSPERO |
|
low complexity region
|
964 |
985 |
N/A |
INTRINSIC |
|
low complexity region
|
1032 |
1052 |
N/A |
INTRINSIC |
|
low complexity region
|
1071 |
1087 |
N/A |
INTRINSIC |
|
low complexity region
|
1160 |
1218 |
N/A |
INTRINSIC |
|
low complexity region
|
1253 |
1265 |
N/A |
INTRINSIC |
|
internal_repeat_1
|
1273 |
1301 |
1.8e-6 |
PROSPERO |
|
low complexity region
|
1325 |
1349 |
N/A |
INTRINSIC |
|
low complexity region
|
1366 |
1391 |
N/A |
INTRINSIC |
|
low complexity region
|
1400 |
1425 |
N/A |
INTRINSIC |
|
low complexity region
|
1431 |
1442 |
N/A |
INTRINSIC |
|
low complexity region
|
1690 |
1697 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000226417
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000227049
AA Change: K169E
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| Meta Mutation Damage Score |
0.1392 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.6%
- 10x: 97.0%
- 20x: 94.9%
|
| Validation Efficiency |
99% (69/70) |
| Allele List at MGI |
All alleles(11) : Targeted, other(2) Gene trapped(9)
|
| Other mutations in this stock |
Total: 69 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ano9 |
A |
G |
7: 140,687,727 (GRCm39) |
I267T |
probably damaging |
Het |
| Anxa6 |
T |
A |
11: 54,896,654 (GRCm39) |
N168I |
probably benign |
Het |
| Apbb1ip |
A |
G |
2: 22,709,717 (GRCm39) |
|
probably benign |
Het |
| Aqr |
G |
A |
2: 113,961,092 (GRCm39) |
H723Y |
probably damaging |
Het |
| Bbx |
C |
T |
16: 50,100,755 (GRCm39) |
E47K |
probably benign |
Het |
| Car13 |
A |
G |
3: 14,721,357 (GRCm39) |
|
probably benign |
Het |
| Casp9 |
T |
A |
4: 141,534,484 (GRCm39) |
I298N |
possibly damaging |
Het |
| Ccdc66 |
T |
C |
14: 27,220,430 (GRCm39) |
E261G |
probably damaging |
Het |
| Cep192 |
T |
A |
18: 67,951,954 (GRCm39) |
Y376* |
probably null |
Het |
| Cped1 |
T |
A |
6: 22,222,545 (GRCm39) |
|
probably benign |
Het |
| Ctbp2 |
A |
T |
7: 132,601,073 (GRCm39) |
S563R |
possibly damaging |
Het |
| Ctdp1 |
A |
G |
18: 80,490,637 (GRCm39) |
|
probably null |
Het |
| Dgka |
G |
C |
10: 128,556,952 (GRCm39) |
|
probably benign |
Het |
| Drd2 |
A |
G |
9: 49,311,084 (GRCm39) |
T112A |
probably benign |
Het |
| Dusp1 |
A |
G |
17: 26,727,143 (GRCm39) |
V52A |
probably damaging |
Het |
| Eea1 |
T |
A |
10: 95,875,634 (GRCm39) |
|
probably benign |
Het |
| Etfrf1 |
T |
C |
6: 145,161,288 (GRCm39) |
V86A |
probably benign |
Het |
| Fbn1 |
A |
T |
2: 125,163,596 (GRCm39) |
C2087S |
possibly damaging |
Het |
| Fosb |
T |
G |
7: 19,041,075 (GRCm39) |
R139S |
probably damaging |
Het |
| Foxm1 |
C |
T |
6: 128,349,566 (GRCm39) |
R362W |
probably damaging |
Het |
| Frem2 |
A |
G |
3: 53,561,381 (GRCm39) |
V1042A |
probably damaging |
Het |
| Gbe1 |
A |
G |
16: 70,280,802 (GRCm39) |
H401R |
probably benign |
Het |
| Gm10549 |
C |
T |
18: 33,597,235 (GRCm39) |
|
probably benign |
Het |
| Golga7b |
A |
T |
19: 42,251,758 (GRCm39) |
|
probably benign |
Het |
| H2-DMb1 |
T |
C |
17: 34,378,399 (GRCm39) |
V235A |
probably benign |
Het |
| Hr |
A |
G |
14: 70,793,916 (GRCm39) |
T59A |
probably benign |
Het |
| Itpr2 |
C |
A |
6: 146,260,890 (GRCm39) |
A588S |
probably benign |
Het |
| Kmt2c |
G |
A |
5: 25,514,706 (GRCm39) |
P3046S |
probably damaging |
Het |
| Lamc1 |
G |
A |
1: 153,126,811 (GRCm39) |
|
probably benign |
Het |
| Lrp2 |
A |
G |
2: 69,260,651 (GRCm39) |
Y4527H |
probably damaging |
Het |
| Map3k2 |
G |
A |
18: 32,345,226 (GRCm39) |
|
probably null |
Het |
| Mroh2a |
C |
A |
1: 88,170,142 (GRCm39) |
A685D |
possibly damaging |
Het |
| Nfs1 |
C |
G |
2: 155,974,580 (GRCm39) |
G212R |
probably damaging |
Het |
| Nol8 |
C |
T |
13: 49,815,923 (GRCm39) |
A677V |
possibly damaging |
Het |
| Nrap |
T |
A |
19: 56,340,054 (GRCm39) |
Y740F |
probably damaging |
Het |
| Nup205 |
T |
A |
6: 35,185,772 (GRCm39) |
M859K |
probably damaging |
Het |
| Nxf1 |
T |
C |
19: 8,745,103 (GRCm39) |
F451S |
possibly damaging |
Het |
| Or5an1c |
A |
T |
19: 12,218,505 (GRCm39) |
N173K |
probably damaging |
Het |
| Or6c6c |
G |
A |
10: 129,541,516 (GRCm39) |
M256I |
probably benign |
Het |
| Pcdhac2 |
T |
C |
18: 37,278,720 (GRCm39) |
Y567H |
probably damaging |
Het |
| Phlpp2 |
C |
T |
8: 110,634,145 (GRCm39) |
R242W |
probably damaging |
Het |
| Pi4ka |
A |
G |
16: 17,100,796 (GRCm39) |
|
probably benign |
Het |
| Pmpcb |
A |
G |
5: 21,953,829 (GRCm39) |
D359G |
probably damaging |
Het |
| Poll |
T |
G |
19: 45,546,309 (GRCm39) |
S244R |
probably benign |
Het |
| Prkd3 |
T |
C |
17: 79,264,644 (GRCm39) |
D657G |
probably null |
Het |
| Prune2 |
G |
A |
19: 17,098,274 (GRCm39) |
M1259I |
probably benign |
Het |
| Ptpra |
T |
A |
2: 130,379,541 (GRCm39) |
M329K |
probably damaging |
Het |
| Rbm10 |
GGGAGGAGGAGGAGGAGGAGGATGAGGAGGAGGAGGAGGAG |
GGGAGGAGGAGGAGGAGGATGAGGAGGAGGAGGAGGAG |
X: 20,503,798 (GRCm39) |
|
probably benign |
Het |
| Rbm15 |
G |
T |
3: 107,237,880 (GRCm39) |
D839E |
probably damaging |
Het |
| Sap30bp |
T |
A |
11: 115,855,103 (GRCm39) |
I271N |
probably damaging |
Het |
| Scart2 |
T |
A |
7: 139,828,874 (GRCm39) |
C178S |
probably damaging |
Het |
| Scn3a |
A |
T |
2: 65,338,918 (GRCm39) |
V587E |
probably damaging |
Het |
| Setdb1 |
A |
T |
3: 95,232,164 (GRCm39) |
|
probably benign |
Het |
| Sgk3 |
T |
A |
1: 9,949,306 (GRCm39) |
|
probably null |
Het |
| Shox2 |
A |
T |
3: 66,881,184 (GRCm39) |
H265Q |
probably damaging |
Het |
| Slc9a2 |
T |
C |
1: 40,783,017 (GRCm39) |
F427S |
possibly damaging |
Het |
| Smarca5 |
T |
A |
8: 81,463,360 (GRCm39) |
Q69H |
probably benign |
Het |
| Specc1l |
T |
A |
10: 75,084,293 (GRCm39) |
F672Y |
probably damaging |
Het |
| Ssh2 |
T |
A |
11: 77,298,969 (GRCm39) |
S105R |
probably damaging |
Het |
| Syne2 |
C |
T |
12: 75,968,000 (GRCm39) |
R917* |
probably null |
Het |
| Tbc1d2 |
G |
A |
4: 46,649,913 (GRCm39) |
T41M |
possibly damaging |
Het |
| Tbx18 |
T |
A |
9: 87,606,408 (GRCm39) |
I246F |
probably damaging |
Het |
| Tcf4 |
T |
A |
18: 69,814,883 (GRCm39) |
|
probably benign |
Het |
| Tmed2 |
C |
A |
5: 124,679,502 (GRCm39) |
|
probably null |
Het |
| Tmem243 |
A |
T |
5: 9,151,361 (GRCm39) |
D15V |
possibly damaging |
Het |
| Vmn2r87 |
T |
A |
10: 130,307,848 (GRCm39) |
S797C |
probably damaging |
Het |
| Vps13c |
T |
A |
9: 67,793,528 (GRCm39) |
|
probably benign |
Het |
| Wls |
T |
A |
3: 159,603,074 (GRCm39) |
C162* |
probably null |
Het |
| Zbtb7c |
C |
T |
18: 76,270,464 (GRCm39) |
T184I |
probably benign |
Het |
|
| Other mutations in Zc3h13 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00945:Zc3h13
|
APN |
14 |
75,567,587 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL01129:Zc3h13
|
APN |
14 |
75,573,439 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01599:Zc3h13
|
APN |
14 |
75,547,163 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01844:Zc3h13
|
APN |
14 |
75,581,209 (GRCm39) |
utr 3 prime |
probably benign |
|
|
IGL02132:Zc3h13
|
APN |
14 |
75,567,787 (GRCm39) |
missense |
probably benign |
0.10 |
|
IGL03108:Zc3h13
|
APN |
14 |
75,569,206 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
IGL03299:Zc3h13
|
APN |
14 |
75,531,381 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03377:Zc3h13
|
APN |
14 |
75,531,416 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
B5639:Zc3h13
|
UTSW |
14 |
75,553,479 (GRCm39) |
missense |
probably damaging |
1.00 |
|
FR4304:Zc3h13
|
UTSW |
14 |
75,561,050 (GRCm39) |
small insertion |
probably benign |
|
|
FR4304:Zc3h13
|
UTSW |
14 |
75,561,043 (GRCm39) |
small insertion |
probably benign |
|
|
FR4340:Zc3h13
|
UTSW |
14 |
75,561,032 (GRCm39) |
small insertion |
probably benign |
|
|
FR4449:Zc3h13
|
UTSW |
14 |
75,561,041 (GRCm39) |
nonsense |
probably null |
|
|
FR4548:Zc3h13
|
UTSW |
14 |
75,561,039 (GRCm39) |
small insertion |
probably benign |
|
|
FR4589:Zc3h13
|
UTSW |
14 |
75,561,038 (GRCm39) |
small insertion |
probably benign |
|
|
FR4589:Zc3h13
|
UTSW |
14 |
75,561,032 (GRCm39) |
small insertion |
probably benign |
|
|
FR4589:Zc3h13
|
UTSW |
14 |
75,561,037 (GRCm39) |
small insertion |
probably benign |
|
|
FR4737:Zc3h13
|
UTSW |
14 |
75,561,039 (GRCm39) |
small insertion |
probably benign |
|
|
FR4737:Zc3h13
|
UTSW |
14 |
75,561,036 (GRCm39) |
small insertion |
probably benign |
|
|
PIT4696001:Zc3h13
|
UTSW |
14 |
75,569,323 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0103:Zc3h13
|
UTSW |
14 |
75,567,908 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R0103:Zc3h13
|
UTSW |
14 |
75,567,908 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R0127:Zc3h13
|
UTSW |
14 |
75,560,694 (GRCm39) |
missense |
unknown |
|
|
R0396:Zc3h13
|
UTSW |
14 |
75,560,922 (GRCm39) |
missense |
unknown |
|
|
R0408:Zc3h13
|
UTSW |
14 |
75,529,626 (GRCm39) |
nonsense |
probably null |
|
|
R0967:Zc3h13
|
UTSW |
14 |
75,581,179 (GRCm39) |
missense |
possibly damaging |
0.54 |
|
R1006:Zc3h13
|
UTSW |
14 |
75,567,989 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1142:Zc3h13
|
UTSW |
14 |
75,553,424 (GRCm39) |
missense |
probably benign |
0.14 |
|
R1605:Zc3h13
|
UTSW |
14 |
75,574,923 (GRCm39) |
nonsense |
probably null |
|
|
R2021:Zc3h13
|
UTSW |
14 |
75,567,635 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R2270:Zc3h13
|
UTSW |
14 |
75,569,587 (GRCm39) |
missense |
probably benign |
0.03 |
|
R3508:Zc3h13
|
UTSW |
14 |
75,546,380 (GRCm39) |
nonsense |
probably null |
|
|
R3745:Zc3h13
|
UTSW |
14 |
75,568,101 (GRCm39) |
missense |
probably benign |
0.03 |
|
R3954:Zc3h13
|
UTSW |
14 |
75,567,178 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R4205:Zc3h13
|
UTSW |
14 |
75,565,041 (GRCm39) |
missense |
unknown |
|
|
R4799:Zc3h13
|
UTSW |
14 |
75,576,863 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5042:Zc3h13
|
UTSW |
14 |
75,576,836 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R5133:Zc3h13
|
UTSW |
14 |
75,573,449 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5384:Zc3h13
|
UTSW |
14 |
75,581,059 (GRCm39) |
missense |
probably benign |
0.14 |
|
R5432:Zc3h13
|
UTSW |
14 |
75,568,687 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5611:Zc3h13
|
UTSW |
14 |
75,568,348 (GRCm39) |
missense |
probably benign |
0.10 |
|
R5687:Zc3h13
|
UTSW |
14 |
75,569,400 (GRCm39) |
nonsense |
probably null |
|
|
R5726:Zc3h13
|
UTSW |
14 |
75,568,269 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
R5817:Zc3h13
|
UTSW |
14 |
75,565,572 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R6087:Zc3h13
|
UTSW |
14 |
75,568,149 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R6224:Zc3h13
|
UTSW |
14 |
75,574,849 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6247:Zc3h13
|
UTSW |
14 |
75,581,176 (GRCm39) |
missense |
probably benign |
0.14 |
|
R6278:Zc3h13
|
UTSW |
14 |
75,567,863 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6315:Zc3h13
|
UTSW |
14 |
75,546,355 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6490:Zc3h13
|
UTSW |
14 |
75,560,998 (GRCm39) |
small deletion |
probably benign |
|
|
R6598:Zc3h13
|
UTSW |
14 |
75,569,623 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7051:Zc3h13
|
UTSW |
14 |
75,568,597 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7054:Zc3h13
|
UTSW |
14 |
75,559,227 (GRCm39) |
missense |
probably benign |
0.19 |
|
R7135:Zc3h13
|
UTSW |
14 |
75,559,161 (GRCm39) |
missense |
unknown |
|
|
R7307:Zc3h13
|
UTSW |
14 |
75,567,981 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R7515:Zc3h13
|
UTSW |
14 |
75,546,349 (GRCm39) |
missense |
unknown |
|
|
R7680:Zc3h13
|
UTSW |
14 |
75,567,955 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8031:Zc3h13
|
UTSW |
14 |
75,568,070 (GRCm39) |
missense |
not run |
|
|
R8048:Zc3h13
|
UTSW |
14 |
75,561,977 (GRCm39) |
missense |
unknown |
|
|
R8059:Zc3h13
|
UTSW |
14 |
75,565,250 (GRCm39) |
missense |
unknown |
|
|
R8362:Zc3h13
|
UTSW |
14 |
75,561,909 (GRCm39) |
missense |
unknown |
|
|
R8391:Zc3h13
|
UTSW |
14 |
75,568,625 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8724:Zc3h13
|
UTSW |
14 |
75,569,512 (GRCm39) |
missense |
probably benign |
0.05 |
|
R9081:Zc3h13
|
UTSW |
14 |
75,569,381 (GRCm39) |
small deletion |
probably benign |
|
|
R9082:Zc3h13
|
UTSW |
14 |
75,569,381 (GRCm39) |
small deletion |
probably benign |
|
|
R9101:Zc3h13
|
UTSW |
14 |
75,561,042 (GRCm39) |
missense |
unknown |
|
|
R9214:Zc3h13
|
UTSW |
14 |
75,560,991 (GRCm39) |
missense |
unknown |
|
|
R9308:Zc3h13
|
UTSW |
14 |
75,565,418 (GRCm39) |
missense |
unknown |
|
|
R9376:Zc3h13
|
UTSW |
14 |
75,561,128 (GRCm39) |
missense |
unknown |
|
|
R9618:Zc3h13
|
UTSW |
14 |
75,567,542 (GRCm39) |
missense |
|
|
|
R9665:Zc3h13
|
UTSW |
14 |
75,567,989 (GRCm39) |
missense |
probably damaging |
0.99 |
|
Z1177:Zc3h13
|
UTSW |
14 |
75,565,505 (GRCm39) |
missense |
unknown |
|
|
| Predicted Primers |
PCR Primer
(F):5'- GCATGTGATAACCCCAAGTCACTTCC -3'
(R):5'- TGACTGAGTGTACAGGCGATGGAC -3'
Sequencing Primer
(F):5'- CCCAAGTCACTTCCAGAAAATATAG -3'
(R):5'- GAGGGAAGCTGATCAATTTATCACTG -3'
|
| Posted On |
2013-05-23 |
Incidental Mutation