Incidental Mutation 'R8059:Zc3h13'
ID |
619619 |
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 |
067894-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.964)
|
Stock # |
R8059 (G1)
|
Quality Score |
195.009 |
Status
|
Validated
|
Chromosome |
14 |
Chromosomal Location |
75521813-75581866 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to G
at 75565250 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Arginine to Glycine
at position 788
(R788G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000022577
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000022577]
[ENSMUST00000227049]
|
AlphaFold |
E9Q784 |
Predicted Effect |
unknown
Transcript: ENSMUST00000022577
AA Change: R788G
|
SMART Domains |
Protein: ENSMUSP00000022577 Gene: ENSMUSG00000022000 AA Change: R788G
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 |
unknown
Transcript: ENSMUST00000227049
AA Change: R788G
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.1%
|
Validation Efficiency |
100% (58/58) |
Allele List at MGI |
All alleles(11) : Targeted, other(2) Gene trapped(9)
|
Other mutations in this stock |
Total: 57 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca13 |
T |
A |
11: 9,323,279 (GRCm39) |
M3372K |
probably benign |
Het |
Abcg3 |
A |
T |
5: 105,100,948 (GRCm39) |
|
probably null |
Het |
Adam19 |
G |
A |
11: 46,027,293 (GRCm39) |
|
probably benign |
Het |
Adgrg6 |
G |
T |
10: 14,344,794 (GRCm39) |
T53K |
probably damaging |
Het |
Ccdc141 |
A |
C |
2: 76,875,095 (GRCm39) |
L705R |
probably damaging |
Het |
Cep78 |
A |
T |
19: 15,958,876 (GRCm39) |
V156E |
probably benign |
Het |
Cers2 |
A |
G |
3: 95,229,982 (GRCm39) |
D342G |
probably damaging |
Het |
Chl1 |
T |
A |
6: 103,651,948 (GRCm39) |
I272N |
probably damaging |
Het |
Defb30 |
A |
G |
14: 63,273,383 (GRCm39) |
*77Q |
probably null |
Het |
Dnai3 |
C |
G |
3: 145,752,428 (GRCm39) |
R749S |
possibly damaging |
Het |
Dnm3 |
A |
G |
1: 161,911,708 (GRCm39) |
V63A |
probably damaging |
Het |
Dsc2 |
C |
T |
18: 20,165,331 (GRCm39) |
G881R |
possibly damaging |
Het |
Entpd2 |
G |
T |
2: 25,288,096 (GRCm39) |
V107L |
probably damaging |
Het |
Hectd1 |
T |
A |
12: 51,837,161 (GRCm39) |
H799L |
possibly damaging |
Het |
Hira |
T |
C |
16: 18,730,901 (GRCm39) |
V200A |
probably damaging |
Het |
Hspd1 |
T |
C |
1: 55,120,883 (GRCm39) |
K269E |
possibly damaging |
Het |
Kcnj4 |
T |
C |
15: 79,369,003 (GRCm39) |
S326G |
probably benign |
Het |
Kctd19 |
T |
G |
8: 106,122,983 (GRCm39) |
I144L |
probably benign |
Het |
Lama4 |
T |
C |
10: 38,842,057 (GRCm39) |
I36T |
probably benign |
Het |
Lrrn3 |
T |
C |
12: 41,504,216 (GRCm39) |
T34A |
probably benign |
Het |
Maco1 |
A |
T |
4: 134,555,359 (GRCm39) |
C371* |
probably null |
Het |
Maml3 |
A |
G |
3: 51,764,110 (GRCm39) |
S285P |
probably damaging |
Het |
Man2b2 |
A |
G |
5: 36,973,504 (GRCm39) |
Y492H |
probably damaging |
Het |
Mapk10 |
G |
T |
5: 103,114,478 (GRCm39) |
N303K |
probably damaging |
Het |
Matn2 |
C |
T |
15: 34,345,481 (GRCm39) |
R163C |
probably damaging |
Het |
Mtmr7 |
C |
T |
8: 41,034,564 (GRCm39) |
A253T |
probably damaging |
Het |
Naca |
C |
T |
10: 127,876,372 (GRCm39) |
P468L |
unknown |
Het |
Nckap1l |
T |
C |
15: 103,401,714 (GRCm39) |
S1084P |
possibly damaging |
Het |
Nek11 |
T |
C |
9: 105,040,173 (GRCm39) |
*629W |
probably null |
Het |
Nfkb1 |
C |
T |
3: 135,299,613 (GRCm39) |
A731T |
possibly damaging |
Het |
Nop2 |
T |
C |
6: 125,117,775 (GRCm39) |
V442A |
probably damaging |
Het |
Oaz2 |
C |
T |
9: 65,596,425 (GRCm39) |
P163L |
probably damaging |
Het |
Or5p57 |
T |
C |
7: 107,665,223 (GRCm39) |
T231A |
probably benign |
Het |
Or6d14 |
C |
T |
6: 116,533,434 (GRCm39) |
T16I |
possibly damaging |
Het |
Or8k23 |
A |
G |
2: 86,186,306 (GRCm39) |
V140A |
probably benign |
Het |
Pabpc2 |
A |
T |
18: 39,907,875 (GRCm39) |
N380I |
probably benign |
Het |
Pax3 |
T |
C |
1: 78,080,003 (GRCm39) |
D461G |
probably benign |
Het |
Pds5b |
G |
T |
5: 150,731,300 (GRCm39) |
R1443L |
unknown |
Het |
Per1 |
G |
A |
11: 68,997,309 (GRCm39) |
R828H |
probably damaging |
Het |
Phlpp2 |
T |
A |
8: 110,622,189 (GRCm39) |
S144T |
probably benign |
Het |
Plod1 |
A |
T |
4: 148,012,941 (GRCm39) |
I207N |
probably damaging |
Het |
Psmc6 |
A |
T |
14: 45,578,260 (GRCm39) |
I208F |
probably damaging |
Het |
Rev3l |
T |
C |
10: 39,719,491 (GRCm39) |
S2494P |
probably damaging |
Het |
Rgs3 |
T |
C |
4: 62,521,214 (GRCm39) |
|
probably benign |
Het |
Rtraf |
T |
C |
14: 19,872,631 (GRCm39) |
|
probably benign |
Het |
Slc17a6 |
T |
A |
7: 51,294,792 (GRCm39) |
N166K |
probably damaging |
Het |
Slc18a2 |
A |
T |
19: 59,272,572 (GRCm39) |
T348S |
probably benign |
Het |
Slc39a8 |
G |
T |
3: 135,532,347 (GRCm39) |
A39S |
probably benign |
Het |
Slc8a3 |
C |
T |
12: 81,249,032 (GRCm39) |
G799S |
probably damaging |
Het |
Sp1 |
T |
G |
15: 102,316,337 (GRCm39) |
S46R |
possibly damaging |
Het |
Spta1 |
A |
G |
1: 174,045,936 (GRCm39) |
|
probably benign |
Het |
Stab1 |
G |
A |
14: 30,882,198 (GRCm39) |
P499L |
probably benign |
Het |
Trav21-dv12 |
C |
A |
14: 54,114,178 (GRCm39) |
D99E |
probably damaging |
Het |
Trpv6 |
T |
G |
6: 41,601,520 (GRCm39) |
I467L |
probably benign |
Het |
Ttc41 |
A |
G |
10: 86,548,842 (GRCm39) |
Y12C |
probably benign |
Het |
Vmn1r233 |
T |
C |
17: 21,214,698 (GRCm39) |
N84S |
probably benign |
Het |
Vrtn |
T |
C |
12: 84,696,690 (GRCm39) |
F480S |
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 |
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 |
|
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'- TCACCTATTCGCCATCAGGG -3'
(R):5'- CGAACATGAATATCCTCGCGC -3'
Sequencing Primer
(F):5'- TTCGCCATCAGGGAAGGAGTG -3'
(R):5'- GAACATGAATATCCTCGCGCTTCTC -3'
|
Posted On |
2020-01-23 |