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 |
4930570G11Rik, 3110050K21Rik, 2600010B19Rik, C87618 |
| MMRRC Submission |
067894-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.967)
|
| Stock # |
R8059 (G1)
|
| Quality Score |
195.009 |
|
Status
|
Validated
|
| Chromosome |
14 |
| Chromosomal Location |
75284373-75344426 bp(+) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to G
at 75327810 bp (GRCm38)
|
| 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: 9,373,279 (GRCm38) |
M3372K |
probably benign |
Het |
| Abcg3 |
A |
T |
5: 104,953,082 (GRCm38) |
|
probably null |
Het |
| Adam19 |
G |
A |
11: 46,136,466 (GRCm38) |
|
probably benign |
Het |
| Adgrg6 |
G |
T |
10: 14,469,050 (GRCm38) |
T53K |
probably damaging |
Het |
| Ccdc141 |
A |
C |
2: 77,044,751 (GRCm38) |
L705R |
probably damaging |
Het |
| Cep78 |
A |
T |
19: 15,981,512 (GRCm38) |
V156E |
probably benign |
Het |
| Cers2 |
A |
G |
3: 95,322,671 (GRCm38) |
D342G |
probably damaging |
Het |
| Chl1 |
T |
A |
6: 103,674,987 (GRCm38) |
I272N |
probably damaging |
Het |
| Defb30 |
A |
G |
14: 63,035,934 (GRCm38) |
*77Q |
probably null |
Het |
| Dnm3 |
A |
G |
1: 162,084,139 (GRCm38) |
V63A |
probably damaging |
Het |
| Dsc2 |
C |
T |
18: 20,032,274 (GRCm38) |
G881R |
possibly damaging |
Het |
| Entpd2 |
G |
T |
2: 25,398,084 (GRCm38) |
V107L |
probably damaging |
Het |
| Hectd1 |
T |
A |
12: 51,790,378 (GRCm38) |
H799L |
possibly damaging |
Het |
| Hira |
T |
C |
16: 18,912,151 (GRCm38) |
V200A |
probably damaging |
Het |
| Hspd1 |
T |
C |
1: 55,081,724 (GRCm38) |
K269E |
possibly damaging |
Het |
| Kcnj4 |
T |
C |
15: 79,484,802 (GRCm38) |
S326G |
probably benign |
Het |
| Kctd19 |
T |
G |
8: 105,396,351 (GRCm38) |
I144L |
probably benign |
Het |
| Lama4 |
T |
C |
10: 38,966,061 (GRCm38) |
I36T |
probably benign |
Het |
| Lrrn3 |
T |
C |
12: 41,454,217 (GRCm38) |
T34A |
probably benign |
Het |
| Maml3 |
A |
G |
3: 51,856,689 (GRCm38) |
S285P |
probably damaging |
Het |
| Man2b2 |
A |
G |
5: 36,816,160 (GRCm38) |
Y492H |
probably damaging |
Het |
| Mapk10 |
G |
T |
5: 102,966,612 (GRCm38) |
N303K |
probably damaging |
Het |
| Matn2 |
C |
T |
15: 34,345,335 (GRCm38) |
R163C |
probably damaging |
Het |
| Mtmr7 |
C |
T |
8: 40,581,522 (GRCm38) |
A253T |
probably damaging |
Het |
| Naca |
C |
T |
10: 128,040,503 (GRCm38) |
P468L |
unknown |
Het |
| Nckap1l |
T |
C |
15: 103,493,287 (GRCm38) |
S1084P |
possibly damaging |
Het |
| Nek11 |
T |
C |
9: 105,162,974 (GRCm38) |
*629W |
probably null |
Het |
| Nfkb1 |
C |
T |
3: 135,593,852 (GRCm38) |
A731T |
possibly damaging |
Het |
| Nop2 |
T |
C |
6: 125,140,812 (GRCm38) |
V442A |
probably damaging |
Het |
| Oaz2 |
C |
T |
9: 65,689,143 (GRCm38) |
P163L |
probably damaging |
Het |
| Olfr1056 |
A |
G |
2: 86,355,962 (GRCm38) |
V140A |
probably benign |
Het |
| Olfr214 |
C |
T |
6: 116,556,473 (GRCm38) |
T16I |
possibly damaging |
Het |
| Olfr480 |
T |
C |
7: 108,066,016 (GRCm38) |
T231A |
probably benign |
Het |
| Pabpc2 |
A |
T |
18: 39,774,822 (GRCm38) |
N380I |
probably benign |
Het |
| Pax3 |
T |
C |
1: 78,103,366 (GRCm38) |
D461G |
probably benign |
Het |
| Pds5b |
G |
T |
5: 150,807,835 (GRCm38) |
R1443L |
unknown |
Het |
| Per1 |
G |
A |
11: 69,106,483 (GRCm38) |
R828H |
probably damaging |
Het |
| Phlpp2 |
T |
A |
8: 109,895,557 (GRCm38) |
S144T |
probably benign |
Het |
| Plod1 |
A |
T |
4: 147,928,484 (GRCm38) |
I207N |
probably damaging |
Het |
| Psmc6 |
A |
T |
14: 45,340,803 (GRCm38) |
I208F |
probably damaging |
Het |
| Rev3l |
T |
C |
10: 39,843,495 (GRCm38) |
S2494P |
probably damaging |
Het |
| Rgs3 |
T |
C |
4: 62,602,977 (GRCm38) |
|
probably benign |
Het |
| Rtraf |
T |
C |
14: 19,822,563 (GRCm38) |
|
probably benign |
Het |
| Slc17a6 |
T |
A |
7: 51,645,044 (GRCm38) |
N166K |
probably damaging |
Het |
| Slc18a2 |
A |
T |
19: 59,284,140 (GRCm38) |
T348S |
probably benign |
Het |
| Slc39a8 |
G |
T |
3: 135,826,586 (GRCm38) |
A39S |
probably benign |
Het |
| Slc8a3 |
C |
T |
12: 81,202,258 (GRCm38) |
G799S |
probably damaging |
Het |
| Sp1 |
T |
G |
15: 102,407,902 (GRCm38) |
S46R |
possibly damaging |
Het |
| Spta1 |
A |
G |
1: 174,218,370 (GRCm38) |
|
probably benign |
Het |
| Stab1 |
G |
A |
14: 31,160,241 (GRCm38) |
P499L |
probably benign |
Het |
| Tmem57 |
A |
T |
4: 134,828,048 (GRCm38) |
C371* |
probably null |
Het |
| Trav21-dv12 |
C |
A |
14: 53,876,721 (GRCm38) |
D99E |
probably damaging |
Het |
| Trpv6 |
T |
G |
6: 41,624,586 (GRCm38) |
I467L |
probably benign |
Het |
| Ttc41 |
A |
G |
10: 86,712,978 (GRCm38) |
Y12C |
probably benign |
Het |
| Vmn1r233 |
T |
C |
17: 20,994,436 (GRCm38) |
N84S |
probably benign |
Het |
| Vrtn |
T |
C |
12: 84,649,916 (GRCm38) |
F480S |
probably benign |
Het |
| Wdr63 |
C |
G |
3: 146,046,673 (GRCm38) |
R749S |
possibly damaging |
Het |
|
| Other mutations in Zc3h13 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00945:Zc3h13
|
APN |
14 |
75,330,147 (GRCm38) |
missense |
probably damaging |
0.99 |
|
IGL01129:Zc3h13
|
APN |
14 |
75,335,999 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL01599:Zc3h13
|
APN |
14 |
75,309,723 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL01844:Zc3h13
|
APN |
14 |
75,343,769 (GRCm38) |
utr 3 prime |
probably benign |
|
|
IGL02132:Zc3h13
|
APN |
14 |
75,330,347 (GRCm38) |
missense |
probably benign |
0.10 |
|
IGL03108:Zc3h13
|
APN |
14 |
75,331,766 (GRCm38) |
missense |
possibly damaging |
0.73 |
|
IGL03299:Zc3h13
|
APN |
14 |
75,293,941 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL03377:Zc3h13
|
APN |
14 |
75,293,976 (GRCm38) |
missense |
possibly damaging |
0.53 |
|
B5639:Zc3h13
|
UTSW |
14 |
75,316,039 (GRCm38) |
missense |
probably damaging |
1.00 |
|
FR4304:Zc3h13
|
UTSW |
14 |
75,323,610 (GRCm38) |
small insertion |
probably benign |
|
|
FR4304:Zc3h13
|
UTSW |
14 |
75,323,603 (GRCm38) |
small insertion |
probably benign |
|
|
FR4340:Zc3h13
|
UTSW |
14 |
75,323,592 (GRCm38) |
small insertion |
probably benign |
|
|
FR4449:Zc3h13
|
UTSW |
14 |
75,323,601 (GRCm38) |
nonsense |
probably null |
|
|
FR4548:Zc3h13
|
UTSW |
14 |
75,323,599 (GRCm38) |
small insertion |
probably benign |
|
|
FR4589:Zc3h13
|
UTSW |
14 |
75,323,598 (GRCm38) |
small insertion |
probably benign |
|
|
FR4589:Zc3h13
|
UTSW |
14 |
75,323,592 (GRCm38) |
small insertion |
probably benign |
|
|
FR4589:Zc3h13
|
UTSW |
14 |
75,323,597 (GRCm38) |
small insertion |
probably benign |
|
|
FR4737:Zc3h13
|
UTSW |
14 |
75,323,599 (GRCm38) |
small insertion |
probably benign |
|
|
FR4737:Zc3h13
|
UTSW |
14 |
75,323,596 (GRCm38) |
small insertion |
probably benign |
|
|
PIT4696001:Zc3h13
|
UTSW |
14 |
75,331,883 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0103:Zc3h13
|
UTSW |
14 |
75,330,468 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R0103:Zc3h13
|
UTSW |
14 |
75,330,468 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R0127:Zc3h13
|
UTSW |
14 |
75,323,254 (GRCm38) |
missense |
unknown |
|
|
R0374:Zc3h13
|
UTSW |
14 |
75,308,965 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0396:Zc3h13
|
UTSW |
14 |
75,323,482 (GRCm38) |
missense |
unknown |
|
|
R0408:Zc3h13
|
UTSW |
14 |
75,292,186 (GRCm38) |
nonsense |
probably null |
|
|
R0967:Zc3h13
|
UTSW |
14 |
75,343,739 (GRCm38) |
missense |
possibly damaging |
0.54 |
|
R1006:Zc3h13
|
UTSW |
14 |
75,330,549 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R1142:Zc3h13
|
UTSW |
14 |
75,315,984 (GRCm38) |
missense |
probably benign |
0.14 |
|
R1605:Zc3h13
|
UTSW |
14 |
75,337,483 (GRCm38) |
nonsense |
probably null |
|
|
R2021:Zc3h13
|
UTSW |
14 |
75,330,195 (GRCm38) |
missense |
probably damaging |
0.96 |
|
R2270:Zc3h13
|
UTSW |
14 |
75,332,147 (GRCm38) |
missense |
probably benign |
0.03 |
|
R3508:Zc3h13
|
UTSW |
14 |
75,308,940 (GRCm38) |
nonsense |
probably null |
|
|
R3745:Zc3h13
|
UTSW |
14 |
75,330,661 (GRCm38) |
missense |
probably benign |
0.03 |
|
R3954:Zc3h13
|
UTSW |
14 |
75,329,738 (GRCm38) |
missense |
possibly damaging |
0.85 |
|
R4205:Zc3h13
|
UTSW |
14 |
75,327,601 (GRCm38) |
missense |
unknown |
|
|
R4799:Zc3h13
|
UTSW |
14 |
75,339,423 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5042:Zc3h13
|
UTSW |
14 |
75,339,396 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R5133:Zc3h13
|
UTSW |
14 |
75,336,009 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5384:Zc3h13
|
UTSW |
14 |
75,343,619 (GRCm38) |
missense |
probably benign |
0.14 |
|
R5432:Zc3h13
|
UTSW |
14 |
75,331,247 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5611:Zc3h13
|
UTSW |
14 |
75,330,908 (GRCm38) |
missense |
probably benign |
0.10 |
|
R5687:Zc3h13
|
UTSW |
14 |
75,331,960 (GRCm38) |
nonsense |
probably null |
|
|
R5726:Zc3h13
|
UTSW |
14 |
75,330,829 (GRCm38) |
missense |
possibly damaging |
0.84 |
|
R5817:Zc3h13
|
UTSW |
14 |
75,328,132 (GRCm38) |
missense |
probably damaging |
0.96 |
|
R6087:Zc3h13
|
UTSW |
14 |
75,330,709 (GRCm38) |
missense |
probably damaging |
0.96 |
|
R6224:Zc3h13
|
UTSW |
14 |
75,337,409 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R6247:Zc3h13
|
UTSW |
14 |
75,343,736 (GRCm38) |
missense |
probably benign |
0.14 |
|
R6278:Zc3h13
|
UTSW |
14 |
75,330,423 (GRCm38) |
missense |
probably benign |
0.01 |
|
R6315:Zc3h13
|
UTSW |
14 |
75,308,915 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6490:Zc3h13
|
UTSW |
14 |
75,323,558 (GRCm38) |
small deletion |
probably benign |
|
|
R6598:Zc3h13
|
UTSW |
14 |
75,332,183 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R7051:Zc3h13
|
UTSW |
14 |
75,331,157 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7054:Zc3h13
|
UTSW |
14 |
75,321,787 (GRCm38) |
missense |
probably benign |
0.19 |
|
R7135:Zc3h13
|
UTSW |
14 |
75,321,721 (GRCm38) |
missense |
unknown |
|
|
R7307:Zc3h13
|
UTSW |
14 |
75,330,541 (GRCm38) |
missense |
probably damaging |
0.96 |
|
R7515:Zc3h13
|
UTSW |
14 |
75,308,909 (GRCm38) |
missense |
unknown |
|
|
R7680:Zc3h13
|
UTSW |
14 |
75,330,515 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R8031:Zc3h13
|
UTSW |
14 |
75,330,630 (GRCm38) |
missense |
not run |
|
|
R8048:Zc3h13
|
UTSW |
14 |
75,324,537 (GRCm38) |
missense |
unknown |
|
|
R8362:Zc3h13
|
UTSW |
14 |
75,324,469 (GRCm38) |
missense |
unknown |
|
|
R8391:Zc3h13
|
UTSW |
14 |
75,331,185 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8724:Zc3h13
|
UTSW |
14 |
75,332,072 (GRCm38) |
missense |
probably benign |
0.05 |
|
R9081:Zc3h13
|
UTSW |
14 |
75,331,941 (GRCm38) |
small deletion |
probably benign |
|
|
R9082:Zc3h13
|
UTSW |
14 |
75,331,941 (GRCm38) |
small deletion |
probably benign |
|
|
R9101:Zc3h13
|
UTSW |
14 |
75,323,602 (GRCm38) |
missense |
unknown |
|
|
R9214:Zc3h13
|
UTSW |
14 |
75,323,551 (GRCm38) |
missense |
unknown |
|
|
R9308:Zc3h13
|
UTSW |
14 |
75,327,978 (GRCm38) |
missense |
unknown |
|
|
R9376:Zc3h13
|
UTSW |
14 |
75,323,688 (GRCm38) |
missense |
unknown |
|
|
R9618:Zc3h13
|
UTSW |
14 |
75,330,102 (GRCm38) |
missense |
|
|
|
R9665:Zc3h13
|
UTSW |
14 |
75,330,549 (GRCm38) |
missense |
probably damaging |
0.99 |
|
Z1177:Zc3h13
|
UTSW |
14 |
75,328,065 (GRCm38) |
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 |
Incidental Mutation