Incidental Mutation 'R1605:Zc3h13'
ID |
176432 |
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 |
039642-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.964)
|
Stock # |
R1605 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
14 |
Chromosomal Location |
75521813-75581866 bp(+) (GRCm39) |
Type of Mutation |
nonsense |
DNA Base Change (assembly) |
C to T
at 75574923 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Arginine to Stop codon
at position 1591
(R1591*)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000153882
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000022577]
[ENSMUST00000227049]
|
AlphaFold |
E9Q784 |
Predicted Effect |
probably null
Transcript: ENSMUST00000022577
AA Change: R1590*
|
SMART Domains |
Protein: ENSMUSP00000022577 Gene: ENSMUSG00000022000 AA Change: R1590*
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 |
probably null
Transcript: ENSMUST00000227049
AA Change: R1591*
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000228470
|
Meta Mutation Damage Score |
0.9755 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.4%
- 10x: 96.5%
- 20x: 93.3%
|
Validation Efficiency |
99% (75/76) |
Allele List at MGI |
All alleles(11) : Targeted, other(2) Gene trapped(9)
|
Other mutations in this stock |
Total: 72 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
5730409E04Rik |
A |
G |
4: 126,506,104 (GRCm39) |
K211E |
probably damaging |
Het |
Acot7 |
A |
G |
4: 152,291,285 (GRCm39) |
I84V |
possibly damaging |
Het |
Ankrd44 |
A |
G |
1: 54,867,781 (GRCm39) |
V34A |
probably benign |
Het |
Atp4b |
A |
T |
8: 13,443,489 (GRCm39) |
M63K |
probably damaging |
Het |
Atr |
T |
A |
9: 95,818,516 (GRCm39) |
I2163K |
probably damaging |
Het |
Azgp1 |
A |
T |
5: 137,983,426 (GRCm39) |
R34* |
probably null |
Het |
Ccdc152 |
T |
G |
15: 3,327,603 (GRCm39) |
K58T |
probably damaging |
Het |
Ccdc88b |
T |
A |
19: 6,827,837 (GRCm39) |
Q912L |
probably benign |
Het |
Cdc42ep5 |
T |
A |
7: 4,154,395 (GRCm39) |
H131L |
probably benign |
Het |
Chd7 |
G |
A |
4: 8,844,675 (GRCm39) |
E1595K |
probably damaging |
Het |
Col11a1 |
G |
A |
3: 113,925,290 (GRCm39) |
G41D |
probably damaging |
Het |
Cyp2b23 |
C |
T |
7: 26,385,843 (GRCm39) |
V5I |
probably benign |
Het |
D430041D05Rik |
A |
G |
2: 104,085,915 (GRCm39) |
V22A |
possibly damaging |
Het |
Ddi1 |
T |
C |
9: 6,266,012 (GRCm39) |
Y119C |
probably benign |
Het |
Dysf |
T |
C |
6: 84,083,923 (GRCm39) |
L785P |
probably damaging |
Het |
Eqtn |
T |
A |
4: 94,816,587 (GRCm39) |
T69S |
possibly damaging |
Het |
F11 |
T |
A |
8: 45,694,617 (GRCm39) |
K581N |
probably damaging |
Het |
Gli2 |
G |
A |
1: 118,782,290 (GRCm39) |
P172S |
probably damaging |
Het |
Gm7579 |
G |
T |
7: 141,765,603 (GRCm39) |
C3F |
unknown |
Het |
Grin2a |
A |
G |
16: 9,481,194 (GRCm39) |
V501A |
possibly damaging |
Het |
Grk4 |
G |
A |
5: 34,831,901 (GRCm39) |
D57N |
probably damaging |
Het |
Gsdma |
A |
T |
11: 98,557,319 (GRCm39) |
D86V |
probably damaging |
Het |
Gsx1 |
A |
G |
5: 147,126,738 (GRCm39) |
E187G |
probably damaging |
Het |
Hdac1-ps |
A |
G |
17: 78,799,537 (GRCm39) |
D176G |
probably damaging |
Het |
Inpp5k |
T |
A |
11: 75,524,307 (GRCm39) |
F75L |
probably benign |
Het |
Itpr1 |
T |
C |
6: 108,326,620 (GRCm39) |
V114A |
possibly damaging |
Het |
Izumo3 |
A |
T |
4: 92,032,977 (GRCm39) |
C130S |
probably damaging |
Het |
Mei4 |
G |
A |
9: 81,809,639 (GRCm39) |
E241K |
possibly damaging |
Het |
Mocs2 |
T |
C |
13: 114,961,120 (GRCm39) |
V39A |
probably benign |
Het |
Mroh2b |
G |
A |
15: 4,974,572 (GRCm39) |
R1184H |
probably benign |
Het |
Msh3 |
T |
C |
13: 92,436,783 (GRCm39) |
Q509R |
probably null |
Het |
Myh8 |
T |
C |
11: 67,192,497 (GRCm39) |
W1459R |
probably damaging |
Het |
Mypop |
T |
A |
7: 18,734,918 (GRCm39) |
|
probably benign |
Het |
Ndc1 |
C |
A |
4: 107,225,293 (GRCm39) |
T3K |
probably damaging |
Het |
Nf1 |
A |
C |
11: 79,331,749 (GRCm39) |
M695L |
probably benign |
Het |
Nup50l |
A |
G |
6: 96,141,793 (GRCm39) |
M417T |
probably benign |
Het |
Nutm2 |
C |
A |
13: 50,623,955 (GRCm39) |
D217E |
possibly damaging |
Het |
Or52a20 |
T |
C |
7: 103,365,858 (GRCm39) |
I19T |
probably damaging |
Het |
Or5b122 |
A |
G |
19: 13,562,994 (GRCm39) |
T109A |
probably benign |
Het |
Pde6c |
C |
A |
19: 38,129,940 (GRCm39) |
D283E |
probably damaging |
Het |
Phldb2 |
A |
G |
16: 45,591,142 (GRCm39) |
|
probably benign |
Het |
Pigt |
G |
C |
2: 164,349,419 (GRCm39) |
R574P |
probably damaging |
Het |
Pkd1 |
T |
C |
17: 24,796,500 (GRCm39) |
I2354T |
possibly damaging |
Het |
Prdm15 |
T |
C |
16: 97,640,506 (GRCm39) |
E27G |
probably damaging |
Het |
Ptpn14 |
A |
G |
1: 189,597,709 (GRCm39) |
I1140V |
probably benign |
Het |
Rdx |
T |
C |
9: 51,974,891 (GRCm39) |
V9A |
probably damaging |
Het |
Rfx7 |
T |
C |
9: 72,519,071 (GRCm39) |
S258P |
probably damaging |
Het |
Rnf17 |
G |
T |
14: 56,730,822 (GRCm39) |
G1209C |
probably damaging |
Het |
S1pr4 |
C |
T |
10: 81,335,225 (GRCm39) |
|
probably null |
Het |
Scml2 |
G |
T |
X: 160,014,442 (GRCm39) |
E566D |
possibly damaging |
Het |
Serpinb1b |
T |
A |
13: 33,277,646 (GRCm39) |
V293E |
possibly damaging |
Het |
Serpinb9b |
T |
C |
13: 33,222,112 (GRCm39) |
|
probably null |
Het |
Sez6l |
A |
C |
5: 112,622,915 (GRCm39) |
I212S |
probably damaging |
Het |
Son |
T |
C |
16: 91,454,552 (GRCm39) |
S1100P |
probably damaging |
Het |
Spag9 |
G |
A |
11: 93,939,365 (GRCm39) |
R98H |
probably damaging |
Het |
Spata31e2 |
A |
T |
1: 26,723,511 (GRCm39) |
H556Q |
possibly damaging |
Het |
St3gal5 |
T |
C |
6: 72,119,272 (GRCm39) |
L128P |
probably benign |
Het |
Stra6 |
A |
T |
9: 58,059,166 (GRCm39) |
M510L |
probably benign |
Het |
Stxbp5l |
A |
G |
16: 37,028,473 (GRCm39) |
V530A |
probably benign |
Het |
Tatdn1 |
A |
G |
15: 58,793,039 (GRCm39) |
|
probably benign |
Het |
Tbc1d8 |
A |
G |
1: 39,430,206 (GRCm39) |
S466P |
probably benign |
Het |
Tmem199 |
A |
T |
11: 78,399,152 (GRCm39) |
M175K |
possibly damaging |
Het |
Trmt12 |
A |
G |
15: 58,744,764 (GRCm39) |
E54G |
probably benign |
Het |
Usp37 |
G |
T |
1: 74,532,163 (GRCm39) |
Q77K |
possibly damaging |
Het |
Vezf1 |
A |
G |
11: 87,967,125 (GRCm39) |
I301V |
possibly damaging |
Het |
Vmn1r34 |
T |
G |
6: 66,613,932 (GRCm39) |
M269L |
probably benign |
Het |
Wdr93 |
C |
A |
7: 79,421,257 (GRCm39) |
|
probably null |
Het |
Wnk2 |
T |
C |
13: 49,214,370 (GRCm39) |
D644G |
probably damaging |
Het |
Zfp131 |
G |
A |
13: 120,230,316 (GRCm39) |
L371F |
probably damaging |
Het |
Zfp180 |
T |
A |
7: 23,804,049 (GRCm39) |
V156D |
probably benign |
Het |
Zfp646 |
G |
T |
7: 127,479,359 (GRCm39) |
|
probably null |
Het |
Zscan12 |
C |
A |
13: 21,550,813 (GRCm39) |
T144K |
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 |
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'- CGTCTTCAGTAGCTTGTCTGCTTTGT -3'
(R):5'- TGGAGCCCTTCCCAAGACCAC -3'
Sequencing Primer
(F):5'- ggctgacctggaactcac -3'
(R):5'- ACACTAACAATCATAGCATGTGAC -3'
|
Posted On |
2014-04-24 |