Incidental Mutation 'R6315:Zc3h13'
| ID |
510613 |
| 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 |
044472-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.964)
|
| Stock # |
R6315 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
14 |
| Chromosomal Location |
75521813-75581866 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 75546355 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 152
(D152G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000153882
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000022577]
[ENSMUST00000227049]
|
| AlphaFold |
E9Q784 |
| Predicted Effect |
unknown
Transcript: ENSMUST00000022577
AA Change: D152G
|
| SMART Domains |
Protein: ENSMUSP00000022577
Gene: ENSMUSG00000022000
AA Change: D152G
| 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 |
noncoding transcript
Transcript: ENSMUST00000226417
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000227049
AA Change: D152G
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| Meta Mutation Damage Score |
0.1376 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.8%
|
| Validation Efficiency |
97% (64/66) |
| 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 |
|---|
| Abca15 |
T |
C |
7: 119,945,315 (GRCm39) |
Y464H |
probably damaging |
Het |
| Ahnak |
T |
C |
19: 8,983,990 (GRCm39) |
M1758T |
probably damaging |
Het |
| Ak9 |
A |
T |
10: 41,282,837 (GRCm39) |
D1201V |
possibly damaging |
Het |
| Amdhd2 |
A |
C |
17: 24,377,330 (GRCm39) |
H203Q |
probably benign |
Het |
| Ano3 |
A |
G |
2: 110,527,384 (GRCm39) |
M608T |
probably damaging |
Het |
| Arhgef4 |
G |
A |
1: 34,762,558 (GRCm39) |
A605T |
unknown |
Het |
| Atp1a2 |
C |
G |
1: 172,116,903 (GRCm39) |
R238P |
probably damaging |
Het |
| Atp8b1 |
C |
A |
18: 64,664,550 (GRCm39) |
R1206L |
probably damaging |
Het |
| B4galt5 |
A |
T |
2: 167,147,729 (GRCm39) |
N215K |
probably damaging |
Het |
| Bpifa1 |
A |
G |
2: 153,987,996 (GRCm39) |
K180E |
possibly damaging |
Het |
| Cadm1 |
C |
T |
9: 47,721,417 (GRCm39) |
T269M |
probably damaging |
Het |
| Cadm3 |
T |
C |
1: 173,171,919 (GRCm39) |
D252G |
probably benign |
Het |
| Ccdc18 |
A |
G |
5: 108,309,448 (GRCm39) |
R348G |
probably benign |
Het |
| Cers4 |
G |
A |
8: 4,566,980 (GRCm39) |
C94Y |
probably benign |
Het |
| Cfap58 |
G |
A |
19: 47,929,716 (GRCm39) |
R59H |
probably benign |
Het |
| Col19a1 |
C |
T |
1: 24,565,533 (GRCm39) |
G266D |
unknown |
Het |
| Col6a5 |
G |
T |
9: 105,759,169 (GRCm39) |
F2012L |
probably damaging |
Het |
| Dnah6 |
T |
C |
6: 73,168,588 (GRCm39) |
Q445R |
probably benign |
Het |
| Dsg3 |
A |
G |
18: 20,657,643 (GRCm39) |
S238G |
probably benign |
Het |
| E130308A19Rik |
G |
A |
4: 59,691,132 (GRCm39) |
S322N |
probably benign |
Het |
| Eif5b |
A |
G |
1: 38,057,114 (GRCm39) |
D57G |
unknown |
Het |
| Fbn2 |
T |
C |
18: 58,188,025 (GRCm39) |
|
probably null |
Het |
| Fbxo38 |
A |
T |
18: 62,669,218 (GRCm39) |
C77* |
probably null |
Het |
| Fgb |
T |
A |
3: 82,952,362 (GRCm39) |
Q169L |
probably benign |
Het |
| Fut9 |
A |
T |
4: 25,619,774 (GRCm39) |
Y347N |
probably damaging |
Het |
| Gabrg2 |
T |
C |
11: 41,862,688 (GRCm39) |
K132R |
probably damaging |
Het |
| Gpn3 |
C |
T |
5: 122,510,638 (GRCm39) |
|
probably benign |
Het |
| Helz2 |
A |
G |
2: 180,874,995 (GRCm39) |
L1833P |
probably damaging |
Het |
| Hk3 |
C |
T |
13: 55,158,970 (GRCm39) |
D484N |
probably benign |
Het |
| Icam4 |
T |
C |
9: 20,941,248 (GRCm39) |
V129A |
probably damaging |
Het |
| Impdh2 |
T |
C |
9: 108,440,638 (GRCm39) |
S280P |
possibly damaging |
Het |
| Impg1 |
C |
A |
9: 80,301,356 (GRCm39) |
G267V |
probably benign |
Het |
| Iqgap1 |
C |
T |
7: 80,449,638 (GRCm39) |
V39M |
possibly damaging |
Het |
| Lyst |
A |
G |
13: 13,818,089 (GRCm39) |
N1253S |
probably benign |
Het |
| Mgat4b |
T |
A |
11: 50,122,591 (GRCm39) |
V195E |
probably damaging |
Het |
| Mrgprb8 |
C |
T |
7: 48,038,983 (GRCm39) |
T218I |
probably damaging |
Het |
| Myrfl |
T |
G |
10: 116,658,724 (GRCm39) |
E411A |
possibly damaging |
Het |
| Myt1l |
T |
C |
12: 29,877,797 (GRCm39) |
S483P |
unknown |
Het |
| Neil2 |
A |
G |
14: 63,420,920 (GRCm39) |
V80A |
possibly damaging |
Het |
| Nfe2l2 |
G |
T |
2: 75,507,163 (GRCm39) |
D312E |
probably damaging |
Het |
| Nin |
A |
T |
12: 70,092,389 (GRCm39) |
L640Q |
probably damaging |
Het |
| Nup205 |
T |
A |
6: 35,213,804 (GRCm39) |
I1732N |
probably damaging |
Het |
| Nup42 |
T |
C |
5: 24,372,502 (GRCm39) |
S97P |
probably damaging |
Het |
| Or5b114-ps1 |
T |
C |
19: 13,352,769 (GRCm39) |
C148R |
unknown |
Het |
| Or5k16 |
A |
C |
16: 58,736,609 (GRCm39) |
Y132D |
probably damaging |
Het |
| Plcb1 |
A |
T |
2: 135,188,261 (GRCm39) |
T785S |
probably benign |
Het |
| Plch1 |
C |
T |
3: 63,688,811 (GRCm39) |
W131* |
probably null |
Het |
| Ppp1r1b |
A |
G |
11: 98,246,216 (GRCm39) |
E66G |
probably damaging |
Het |
| Ros1 |
A |
T |
10: 51,994,306 (GRCm39) |
W1325R |
probably benign |
Het |
| Sec14l5 |
A |
C |
16: 4,998,141 (GRCm39) |
E500A |
possibly damaging |
Het |
| Sirpb1c |
A |
G |
3: 15,886,470 (GRCm39) |
V302A |
possibly damaging |
Het |
| Spata19 |
T |
C |
9: 27,312,133 (GRCm39) |
Y107H |
possibly damaging |
Het |
| Sv2a |
G |
A |
3: 96,095,502 (GRCm39) |
M298I |
probably benign |
Het |
| Tdrd6 |
A |
T |
17: 43,937,229 (GRCm39) |
M1273K |
probably benign |
Het |
| Tectb |
A |
G |
19: 55,179,904 (GRCm39) |
H250R |
possibly damaging |
Het |
| Trip11 |
T |
G |
12: 101,851,837 (GRCm39) |
E742D |
possibly damaging |
Het |
| Tslp |
A |
G |
18: 32,950,143 (GRCm39) |
T71A |
probably benign |
Het |
| Usp20 |
C |
T |
2: 30,907,770 (GRCm39) |
R711C |
possibly damaging |
Het |
| Vmn1r181 |
G |
A |
7: 23,684,183 (GRCm39) |
R216Q |
probably benign |
Het |
| Vmn2r8 |
A |
T |
5: 108,949,757 (GRCm39) |
F363L |
probably benign |
Het |
| Vsnl1 |
T |
A |
12: 11,382,156 (GRCm39) |
N75I |
probably damaging |
Het |
| Wdr55 |
A |
T |
18: 36,895,122 (GRCm39) |
D96V |
probably damaging |
Het |
| Wls |
T |
A |
3: 159,640,007 (GRCm39) |
|
probably null |
Het |
| Zc3h18 |
A |
G |
8: 123,110,604 (GRCm39) |
E151G |
probably benign |
Het |
| Zfat |
A |
G |
15: 67,956,311 (GRCm39) |
S1174P |
probably damaging |
Het |
| Zfyve9 |
T |
A |
4: 108,531,685 (GRCm39) |
T416S |
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 |
|
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 |
|
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'- AGCATGTGATAACCCCAAGTC -3'
(R):5'- GAGGTGATTGCTGTGATCAACAAC -3'
Sequencing Primer
(F):5'- TGTGATAACCCCAAGTCACTTC -3'
(R):5'- GCTGTGATCAACAACCATGTCTGTG -3'
|
| Posted On |
2018-04-02 |
Incidental Mutation