Incidental Mutation 'R5687:Zc3h13'
| ID |
443457 |
| 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 |
043320-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.964)
|
| Stock # |
R5687 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
14 |
| Chromosomal Location |
75521813-75581866 bp(+) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
A to T
at 75569400 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Stop codon
at position 1416
(R1416*)
|
| 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: R1416*
|
| SMART Domains |
Protein: ENSMUSP00000022577
Gene: ENSMUSG00000022000
AA Change: R1416*
| 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: R1416*
|
| Meta Mutation Damage Score |
0.9755 |
| Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.8%
- 10x: 97.4%
- 20x: 95.6%
|
| Validation Efficiency |
99% (72/73) |
| Allele List at MGI |
All alleles(11) : Targeted, other(2) Gene trapped(9)
|
| Other mutations in this stock |
Total: 66 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adamts20 |
T |
A |
15: 94,223,852 (GRCm39) |
D1292V |
probably benign |
Het |
| Adcy2 |
A |
T |
13: 68,768,938 (GRCm39) |
C1063* |
probably null |
Het |
| Adcy2 |
A |
T |
13: 68,790,688 (GRCm39) |
V892D |
probably damaging |
Het |
| Agtpbp1 |
T |
C |
13: 59,648,329 (GRCm39) |
D497G |
probably benign |
Het |
| Anks1b |
A |
C |
10: 90,750,573 (GRCm39) |
I195L |
probably benign |
Het |
| Asmt |
G |
T |
X: 169,111,749 (GRCm39) |
S377I |
unknown |
Het |
| C1s1 |
T |
A |
6: 124,517,909 (GRCm39) |
T24S |
probably benign |
Het |
| Ccdc85a |
A |
T |
11: 28,342,854 (GRCm39) |
|
probably benign |
Het |
| Ccndbp1 |
T |
C |
2: 120,845,183 (GRCm39) |
|
probably benign |
Het |
| Cct8 |
T |
C |
16: 87,285,709 (GRCm39) |
I250V |
probably benign |
Het |
| Cmya5 |
T |
C |
13: 93,234,684 (GRCm39) |
T135A |
possibly damaging |
Het |
| Col11a1 |
T |
C |
3: 114,010,752 (GRCm39) |
|
probably benign |
Het |
| Crybg3 |
A |
G |
16: 59,379,529 (GRCm39) |
M575T |
probably benign |
Het |
| Dmp1 |
C |
T |
5: 104,354,952 (GRCm39) |
|
probably benign |
Het |
| Emc1 |
G |
T |
4: 139,102,691 (GRCm39) |
R950L |
probably damaging |
Het |
| Enpep |
T |
C |
3: 129,092,743 (GRCm39) |
|
probably null |
Het |
| Eya1 |
G |
A |
1: 14,253,476 (GRCm39) |
T500I |
probably damaging |
Het |
| Fam169a |
T |
C |
13: 97,230,126 (GRCm39) |
F54L |
probably damaging |
Het |
| Fbxo8 |
A |
G |
8: 57,044,552 (GRCm39) |
K285R |
probably damaging |
Het |
| Galnt1 |
A |
T |
18: 24,405,807 (GRCm39) |
E416D |
probably benign |
Het |
| Gcc1 |
T |
A |
6: 28,419,232 (GRCm39) |
|
probably null |
Het |
| Gm10800 |
T |
A |
2: 98,496,965 (GRCm39) |
Y196F |
probably benign |
Het |
| Gmpr |
T |
A |
13: 45,692,496 (GRCm39) |
|
probably null |
Het |
| Jrkl |
C |
T |
9: 13,244,387 (GRCm39) |
E425K |
probably benign |
Het |
| Kl |
T |
G |
5: 150,911,931 (GRCm39) |
I560S |
possibly damaging |
Het |
| Kyat3 |
C |
A |
3: 142,440,343 (GRCm39) |
R356S |
probably null |
Het |
| Lrig2 |
C |
T |
3: 104,371,388 (GRCm39) |
|
probably null |
Het |
| Lrrc47 |
A |
G |
4: 154,100,140 (GRCm39) |
T239A |
probably benign |
Het |
| Map4k2 |
T |
C |
19: 6,395,672 (GRCm39) |
|
probably benign |
Het |
| Mon2 |
A |
G |
10: 122,844,144 (GRCm39) |
S1469P |
probably damaging |
Het |
| Mthfd1l |
G |
A |
10: 3,940,002 (GRCm39) |
|
probably null |
Het |
| Mvk |
G |
T |
5: 114,588,826 (GRCm39) |
G144V |
probably damaging |
Het |
| Nasp |
T |
A |
4: 116,463,002 (GRCm39) |
|
probably benign |
Het |
| Ndst4 |
A |
C |
3: 125,232,258 (GRCm39) |
N276H |
possibly damaging |
Het |
| Nsmf |
C |
T |
2: 24,946,079 (GRCm39) |
P189S |
probably damaging |
Het |
| Nt5m |
T |
G |
11: 59,743,649 (GRCm39) |
D92E |
probably benign |
Het |
| Or10g6 |
T |
G |
9: 39,933,731 (GRCm39) |
L14R |
probably damaging |
Het |
| Or4k39 |
T |
C |
2: 111,239,033 (GRCm39) |
|
noncoding transcript |
Het |
| Or4p23 |
A |
T |
2: 88,577,094 (GRCm39) |
I46N |
probably damaging |
Het |
| Pan3 |
T |
A |
5: 147,391,982 (GRCm39) |
I119N |
probably damaging |
Het |
| Pard6b |
A |
T |
2: 167,940,546 (GRCm39) |
S178C |
probably damaging |
Het |
| Parl |
A |
G |
16: 20,106,728 (GRCm39) |
|
probably benign |
Het |
| Pdk2 |
A |
G |
11: 94,919,851 (GRCm39) |
|
probably benign |
Het |
| Prag1 |
A |
G |
8: 36,613,967 (GRCm39) |
E1173G |
probably benign |
Het |
| Prph2 |
T |
A |
17: 47,234,391 (GRCm39) |
L320Q |
probably damaging |
Het |
| Psmd3 |
T |
C |
11: 98,584,495 (GRCm39) |
I200T |
probably damaging |
Het |
| Rhbdd3 |
T |
A |
11: 5,055,707 (GRCm39) |
S324T |
probably damaging |
Het |
| Rps6-ps2 |
A |
T |
8: 89,533,112 (GRCm39) |
|
noncoding transcript |
Het |
| Rps8 |
G |
C |
4: 117,012,352 (GRCm39) |
|
probably benign |
Het |
| Samd4 |
A |
G |
14: 47,254,022 (GRCm39) |
N61S |
probably benign |
Het |
| Sfrp2 |
G |
A |
3: 83,674,146 (GRCm39) |
A100T |
probably damaging |
Het |
| Sh3bp5 |
C |
A |
14: 31,099,452 (GRCm39) |
R265L |
probably benign |
Het |
| Slc6a13 |
A |
G |
6: 121,279,700 (GRCm39) |
T25A |
probably benign |
Het |
| Sntg1 |
C |
A |
1: 8,533,667 (GRCm39) |
R329L |
possibly damaging |
Het |
| Sorbs2 |
T |
C |
8: 46,228,669 (GRCm39) |
F285L |
probably damaging |
Het |
| Speg |
T |
C |
1: 75,395,773 (GRCm39) |
|
probably null |
Het |
| Srgap1 |
T |
C |
10: 121,661,541 (GRCm39) |
Y533C |
probably damaging |
Het |
| Supt5 |
C |
A |
7: 28,017,188 (GRCm39) |
S668I |
probably benign |
Het |
| Taf6l |
T |
G |
19: 8,750,676 (GRCm39) |
I133L |
probably benign |
Het |
| Thrap3 |
G |
A |
4: 126,074,279 (GRCm39) |
|
probably benign |
Het |
| Tmem115 |
A |
G |
9: 107,412,054 (GRCm39) |
N126S |
probably benign |
Het |
| Trgc1 |
A |
T |
13: 19,400,729 (GRCm39) |
I153F |
unknown |
Het |
| Tspoap1 |
T |
A |
11: 87,667,952 (GRCm39) |
I1192N |
probably damaging |
Het |
| Vcan |
T |
C |
13: 89,826,253 (GRCm39) |
I3184V |
probably damaging |
Het |
| Yeats4 |
G |
A |
10: 117,051,585 (GRCm39) |
T224M |
probably benign |
Het |
| Zmynd12 |
T |
A |
4: 119,299,098 (GRCm39) |
Y193N |
probably damaging |
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 |
|
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'- GTCGTTTGACAGTAGAGACCGAC -3'
(R):5'- TTCAAATCCCTGCACAGAGC -3'
Sequencing Primer
(F):5'- TTTGACAGTAGAGACCGACTTCAAG -3'
(R):5'- TCTTTGTCCAAGGCCACGGAG -3'
|
| Posted On |
2016-11-09 |
Incidental Mutation