Incidental Mutation 'R8048:Zc3h13'
| ID |
618895 |
| 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 |
067485-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.964)
|
| Stock # |
R8048 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
14 |
| Chromosomal Location |
75521813-75581866 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 75561977 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 676
(D676E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000022577
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000022577]
[ENSMUST00000227049]
|
| AlphaFold |
E9Q784 |
| Predicted Effect |
unknown
Transcript: ENSMUST00000022577
AA Change: D676E
|
| SMART Domains |
Protein: ENSMUSP00000022577
Gene: ENSMUSG00000022000
AA Change: D676E
| 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: D676E
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 98.9%
|
| Validation Efficiency |
100% (65/65) |
| Allele List at MGI |
All alleles(11) : Targeted, other(2) Gene trapped(9)
|
| Other mutations in this stock |
Total: 64 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc1 |
A |
T |
16: 14,228,708 (GRCm39) |
L318F |
probably damaging |
Het |
| Alms1 |
T |
A |
6: 85,618,316 (GRCm39) |
S2318R |
probably benign |
Het |
| Arhgap12 |
G |
A |
18: 6,052,883 (GRCm39) |
T443I |
probably benign |
Het |
| Arhgap29 |
C |
T |
3: 121,786,550 (GRCm39) |
R372W |
probably damaging |
Het |
| Astn1 |
T |
C |
1: 158,516,208 (GRCm39) |
I1266T |
probably benign |
Het |
| Bsg |
T |
C |
10: 79,545,580 (GRCm39) |
V164A |
probably benign |
Het |
| C1qa |
G |
T |
4: 136,623,921 (GRCm39) |
S94R |
probably benign |
Het |
| Cadps2 |
A |
G |
6: 23,838,862 (GRCm39) |
V92A |
probably benign |
Het |
| Ccdc187 |
T |
A |
2: 26,183,526 (GRCm39) |
D158V |
possibly damaging |
Het |
| Cngb1 |
T |
A |
8: 95,989,838 (GRCm39) |
Y758F |
possibly damaging |
Het |
| Ddx4 |
G |
A |
13: 112,758,706 (GRCm39) |
A285V |
probably null |
Het |
| Dsg1c |
A |
T |
18: 20,407,824 (GRCm39) |
K390M |
probably damaging |
Het |
| Dst |
T |
C |
1: 34,229,717 (GRCm39) |
F2437L |
probably benign |
Het |
| Eln |
CTCCAGCTCCGAT |
C |
5: 134,758,003 (GRCm39) |
|
probably benign |
Het |
| Fam227a |
CATTGTCTTGA |
CA |
15: 79,533,959 (GRCm39) |
|
probably null |
Het |
| Fez2 |
T |
C |
17: 78,694,482 (GRCm39) |
I303V |
probably benign |
Het |
| Ffar1 |
A |
T |
7: 30,560,003 (GRCm39) |
I298N |
probably benign |
Het |
| Hpx |
C |
T |
7: 105,244,685 (GRCm39) |
V228I |
probably benign |
Het |
| Igkv1-117 |
T |
G |
6: 68,098,786 (GRCm39) |
C112G |
probably damaging |
Het |
| Il3ra |
A |
G |
14: 14,348,903 (GRCm38) |
D99G |
probably benign |
Het |
| Ivl |
T |
A |
3: 92,479,231 (GRCm39) |
K278M |
probably damaging |
Het |
| Lyst |
A |
G |
13: 13,862,230 (GRCm39) |
T2589A |
probably benign |
Het |
| Madd |
A |
T |
2: 90,984,793 (GRCm39) |
M1359K |
probably damaging |
Het |
| Nav3 |
T |
C |
10: 109,600,779 (GRCm39) |
T1283A |
probably benign |
Het |
| Ncapd2 |
G |
T |
6: 125,156,661 (GRCm39) |
C439* |
probably null |
Het |
| Nebl |
T |
C |
2: 17,429,333 (GRCm39) |
D266G |
probably benign |
Het |
| Oas1f |
G |
T |
5: 120,985,602 (GRCm39) |
G49V |
probably damaging |
Het |
| Oas1f |
A |
T |
5: 120,986,479 (GRCm39) |
Q144L |
possibly damaging |
Het |
| Or11g7 |
T |
C |
14: 50,691,373 (GRCm39) |
L288P |
possibly damaging |
Het |
| Or2ab1 |
A |
G |
11: 58,488,233 (GRCm39) |
I6V |
unknown |
Het |
| Or2n1 |
T |
C |
17: 38,486,419 (GRCm39) |
V148A |
probably benign |
Het |
| Or5an6 |
A |
G |
19: 12,371,719 (GRCm39) |
I31V |
not run |
Het |
| Or5j3 |
C |
T |
2: 86,128,672 (GRCm39) |
P171S |
probably benign |
Het |
| Or5m3 |
T |
G |
2: 85,838,524 (GRCm39) |
S135A |
probably damaging |
Het |
| Or5t18 |
T |
A |
2: 86,636,515 (GRCm39) |
Y276F |
probably damaging |
Het |
| Or6b6 |
C |
T |
7: 106,571,671 (GRCm39) |
|
probably benign |
Het |
| Or8b52 |
C |
T |
9: 38,577,108 (GRCm39) |
E11K |
probably benign |
Het |
| Or8j3c |
T |
A |
2: 86,253,651 (GRCm39) |
Y123F |
probably damaging |
Het |
| Pard3b |
T |
A |
1: 62,193,148 (GRCm39) |
V217E |
probably damaging |
Het |
| Pcdha2 |
T |
A |
18: 37,072,513 (GRCm39) |
I48N |
probably damaging |
Het |
| Pi4ka |
A |
G |
16: 17,120,991 (GRCm39) |
F1248L |
|
Het |
| Plekha2 |
A |
T |
8: 25,554,005 (GRCm39) |
|
probably benign |
Het |
| Plpp4 |
C |
T |
7: 128,981,201 (GRCm39) |
R151C |
unknown |
Het |
| Pramel14 |
T |
A |
4: 143,718,177 (GRCm39) |
Y422F |
probably benign |
Het |
| Prdm16 |
A |
G |
4: 154,405,339 (GRCm39) |
L1245P |
probably damaging |
Het |
| Prob1 |
G |
A |
18: 35,786,604 (GRCm39) |
A550V |
probably benign |
Het |
| Prok1 |
T |
C |
3: 107,144,408 (GRCm39) |
H65R |
probably benign |
Het |
| Ptcd1 |
A |
G |
5: 145,091,887 (GRCm39) |
V404A |
probably benign |
Het |
| Sbf2 |
T |
C |
7: 109,914,289 (GRCm39) |
E1631G |
probably benign |
Het |
| Sdad1 |
C |
A |
5: 92,447,948 (GRCm39) |
K262N |
probably benign |
Het |
| Sh3bp1 |
G |
T |
15: 78,794,272 (GRCm39) |
A547S |
probably benign |
Het |
| Sptb |
T |
C |
12: 76,675,333 (GRCm39) |
D227G |
probably benign |
Het |
| Tbx1 |
A |
G |
16: 18,406,769 (GRCm39) |
M1T |
probably null |
Het |
| Tespa1 |
T |
A |
10: 130,183,208 (GRCm39) |
V51D |
probably damaging |
Het |
| Tmc7 |
T |
C |
7: 118,165,468 (GRCm39) |
N82S |
probably benign |
Het |
| Tmem8b |
A |
G |
4: 43,689,476 (GRCm39) |
D290G |
possibly damaging |
Het |
| Trbv13-2 |
A |
T |
6: 41,098,493 (GRCm39) |
T23S |
probably damaging |
Het |
| Trib3 |
A |
T |
2: 152,180,553 (GRCm39) |
D213E |
probably damaging |
Het |
| Tubgcp4 |
T |
C |
2: 121,013,981 (GRCm39) |
V178A |
probably benign |
Het |
| Virma |
T |
A |
4: 11,539,918 (GRCm39) |
C1412* |
probably null |
Het |
| Vmn2r108 |
T |
C |
17: 20,691,762 (GRCm39) |
T254A |
probably benign |
Het |
| Vps13d |
A |
G |
4: 144,882,137 (GRCm39) |
V1152A |
|
Het |
| Wdr47 |
T |
C |
3: 108,526,284 (GRCm39) |
V269A |
probably damaging |
Het |
| Zc3h6 |
T |
A |
2: 128,858,934 (GRCm39) |
S988R |
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 |
|
|
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'- GGAAAGATTTTGACTGACAAGCTTG -3'
(R):5'- GCTGGTAGCTAATGACACAATCCTAC -3'
Sequencing Primer
(F):5'- TGACTGACAAGCTTGTTACATAAAG -3'
(R):5'- GCTAATGACACAATCCTACACCATAC -3'
|
| Posted On |
2020-01-23 |
Incidental Mutation