Incidental Mutation 'R6490:Zc3h13'
| ID |
522808 |
| 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 |
044622-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.959)
|
| Stock # |
R6490 (G1)
|
| Quality Score |
217.468 |
|
Status
|
Validated
|
| Chromosome |
14 |
| Chromosomal Location |
75521813-75581866 bp(+) (GRCm39) |
| Type of Mutation |
small deletion (3 aa in frame mutation) |
| DNA Base Change (assembly) |
TGATGTCCGGGATGTCCGGGATGTCCGGGATGTCCGGGATGT to TGATGTCCGGGATGTCCGGGATGTCCGGGATGT
at 75560998 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000153882
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000022577]
[ENSMUST00000227049]
|
| AlphaFold |
E9Q784 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000022577
|
| SMART Domains |
Protein: ENSMUSP00000022577
Gene: ENSMUSG00000022000
| 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 benign
Transcript: ENSMUST00000227049
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.1%
- 20x: 94.6%
|
| Validation Efficiency |
99% (69/70) |
| Allele List at MGI |
All alleles(11) : Targeted, other(2) Gene trapped(9)
|
| Other mutations in this stock |
Total: 70 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700018B08Rik |
T |
G |
8: 122,267,293 (GRCm39) |
K38T |
probably benign |
Het |
| Abca13 |
A |
G |
11: 9,248,661 (GRCm39) |
T2803A |
probably benign |
Het |
| Adam23 |
A |
G |
1: 63,596,613 (GRCm39) |
D565G |
probably damaging |
Het |
| Adcy3 |
A |
G |
12: 4,262,150 (GRCm39) |
T1067A |
probably damaging |
Het |
| Agrn |
A |
T |
4: 156,251,819 (GRCm39) |
Y1921* |
probably null |
Het |
| Apc2 |
A |
G |
10: 80,149,757 (GRCm39) |
N1604D |
probably benign |
Het |
| Atxn7 |
A |
T |
14: 14,089,446 (GRCm38) |
R321* |
probably null |
Het |
| Axin1 |
T |
A |
17: 26,361,968 (GRCm39) |
I104N |
probably damaging |
Het |
| Bahd1 |
T |
C |
2: 118,747,619 (GRCm39) |
S413P |
probably benign |
Het |
| Baz2b |
C |
T |
2: 59,732,073 (GRCm39) |
C2024Y |
probably damaging |
Het |
| Cacna1i |
T |
A |
15: 80,262,448 (GRCm39) |
V1388E |
probably damaging |
Het |
| Ces4a |
G |
A |
8: 105,876,090 (GRCm39) |
V544M |
probably benign |
Het |
| Cntn3 |
G |
A |
6: 102,255,301 (GRCm39) |
T199I |
probably damaging |
Het |
| Col6a4 |
A |
T |
9: 105,952,191 (GRCm39) |
L569* |
probably null |
Het |
| Ctnna2 |
A |
G |
6: 77,120,892 (GRCm39) |
I12T |
probably benign |
Het |
| Dhx37 |
A |
G |
5: 125,496,196 (GRCm39) |
M754T |
probably benign |
Het |
| Dmrt1 |
T |
A |
19: 25,523,395 (GRCm39) |
S249T |
possibly damaging |
Het |
| Ell |
G |
T |
8: 71,025,553 (GRCm39) |
S59I |
probably damaging |
Het |
| Fam89a |
G |
A |
8: 125,467,982 (GRCm39) |
S110F |
probably damaging |
Het |
| Fer1l4 |
A |
C |
2: 155,889,834 (GRCm39) |
F278V |
possibly damaging |
Het |
| Fyn |
T |
C |
10: 39,427,398 (GRCm39) |
I427T |
probably damaging |
Het |
| Galnt14 |
T |
C |
17: 73,832,365 (GRCm39) |
D250G |
probably damaging |
Het |
| Glp1r |
T |
C |
17: 31,143,546 (GRCm39) |
V194A |
probably damaging |
Het |
| Glt1d1 |
T |
A |
5: 127,721,360 (GRCm39) |
|
probably null |
Het |
| Gm7995 |
A |
G |
14: 42,133,327 (GRCm39) |
K69R |
probably benign |
Het |
| Grip1 |
A |
G |
10: 119,822,329 (GRCm39) |
T379A |
possibly damaging |
Het |
| Gtpbp2 |
G |
T |
17: 46,479,147 (GRCm39) |
A570S |
probably benign |
Het |
| Hmcn1 |
T |
C |
1: 150,459,029 (GRCm39) |
I5192V |
probably benign |
Het |
| Igfl3 |
A |
T |
7: 17,913,844 (GRCm39) |
I65F |
possibly damaging |
Het |
| Igsf10 |
G |
T |
3: 59,236,992 (GRCm39) |
T1063K |
probably benign |
Het |
| Itfg1 |
A |
G |
8: 86,466,930 (GRCm39) |
V381A |
probably benign |
Het |
| Itprid1 |
A |
G |
6: 55,953,405 (GRCm39) |
D907G |
probably damaging |
Het |
| Jmjd8 |
T |
A |
17: 26,048,086 (GRCm39) |
V16E |
probably benign |
Het |
| Kank1 |
A |
G |
19: 25,387,449 (GRCm39) |
Y374C |
probably damaging |
Het |
| Kcnma1 |
C |
T |
14: 23,386,165 (GRCm39) |
V891I |
possibly damaging |
Het |
| Kif20a |
C |
A |
18: 34,762,543 (GRCm39) |
T472K |
possibly damaging |
Het |
| Klhl32 |
A |
T |
4: 24,711,578 (GRCm39) |
|
probably benign |
Het |
| Lrrc37a |
A |
G |
11: 103,347,486 (GRCm39) |
S3070P |
unknown |
Het |
| Mettl21e |
T |
G |
1: 44,249,425 (GRCm39) |
Y77S |
probably damaging |
Het |
| Mlst8 |
G |
T |
17: 24,696,935 (GRCm39) |
D82E |
probably benign |
Het |
| Mrgprx2 |
A |
T |
7: 48,132,617 (GRCm39) |
L67Q |
probably damaging |
Het |
| Mylk |
T |
A |
16: 34,750,237 (GRCm39) |
L1192Q |
possibly damaging |
Het |
| Myt1l |
A |
T |
12: 29,882,365 (GRCm39) |
Y520F |
unknown |
Het |
| Naip2 |
A |
T |
13: 100,297,193 (GRCm39) |
W948R |
probably benign |
Het |
| Nlrp9a |
A |
C |
7: 26,250,311 (GRCm39) |
K25N |
probably damaging |
Het |
| Nsd3 |
T |
C |
8: 26,204,212 (GRCm39) |
C414R |
probably damaging |
Het |
| Oit3 |
A |
T |
10: 59,274,374 (GRCm39) |
V142D |
possibly damaging |
Het |
| Or2aj6 |
C |
T |
16: 19,443,194 (GRCm39) |
V219M |
probably benign |
Het |
| P2ry6 |
T |
C |
7: 100,587,580 (GRCm39) |
T260A |
probably damaging |
Het |
| Papola |
A |
G |
12: 105,771,196 (GRCm39) |
Q87R |
probably benign |
Het |
| Pla2g4a |
T |
A |
1: 149,727,086 (GRCm39) |
R557* |
probably null |
Het |
| Rgs13 |
G |
T |
1: 144,016,576 (GRCm39) |
H56N |
probably damaging |
Het |
| Sbf1 |
T |
C |
15: 89,189,111 (GRCm39) |
S537G |
probably benign |
Het |
| Sntg1 |
A |
C |
1: 8,653,508 (GRCm39) |
L243R |
possibly damaging |
Het |
| Spata31h1 |
A |
T |
10: 82,125,138 (GRCm39) |
L2624Q |
possibly damaging |
Het |
| Stam2 |
T |
C |
2: 52,610,954 (GRCm39) |
T23A |
probably benign |
Het |
| Tbl1xr1 |
C |
A |
3: 22,258,141 (GRCm39) |
H467Q |
probably damaging |
Het |
| Tmem131l |
A |
G |
3: 83,820,587 (GRCm39) |
S1222P |
possibly damaging |
Het |
| Tmem43 |
G |
T |
6: 91,455,759 (GRCm39) |
Q123H |
probably damaging |
Het |
| Tmem43 |
T |
A |
6: 91,463,862 (GRCm39) |
I379N |
possibly damaging |
Het |
| Trim43c |
A |
T |
9: 88,727,003 (GRCm39) |
I277F |
possibly damaging |
Het |
| Ttn |
A |
G |
2: 76,703,211 (GRCm39) |
|
probably benign |
Het |
| Vmn1r75 |
T |
A |
7: 11,615,003 (GRCm39) |
V245D |
probably damaging |
Het |
| Vmn2r111 |
T |
C |
17: 22,778,032 (GRCm39) |
N549S |
possibly damaging |
Het |
| Vps53 |
A |
T |
11: 75,967,881 (GRCm39) |
M414K |
probably benign |
Het |
| Wrn |
T |
G |
8: 33,809,248 (GRCm39) |
L249F |
probably benign |
Het |
| Zfp454 |
T |
C |
11: 50,764,950 (GRCm39) |
N161D |
probably benign |
Het |
| Zfp619 |
G |
A |
7: 39,183,586 (GRCm39) |
G60R |
probably benign |
Het |
| Zfp623 |
T |
A |
15: 75,820,308 (GRCm39) |
H421Q |
probably damaging |
Het |
| Zfp827 |
A |
G |
8: 79,916,606 (GRCm39) |
|
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 |
|
|
R0374:Zc3h13
|
UTSW |
14 |
75,546,405 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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 |
|
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'- TAGAGACTCCAGAGACATGCG -3'
(R):5'- GGTTTCTGCCATAACTGCGG -3'
Sequencing Primer
(F):5'- TCCAGAGACATGCGGGACTC -3'
(R):5'- ATAACTGCGGGCTTCTTCCTGG -3'
|
| Posted On |
2018-06-06 |
Incidental Mutation