Incidental Mutation 'R9665:Zc3h13'
| ID |
727792 |
| 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 |
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.959)
|
| Stock # |
R9665 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
14 |
| Chromosomal Location |
75521813-75581866 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 75567989 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 1094
(D1094G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000022577
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000022577]
[ENSMUST00000227049]
|
| AlphaFold |
E9Q784 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000022577
AA Change: D1094G
PolyPhen 2
Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000022577
Gene: ENSMUSG00000022000
AA Change: D1094G
| 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: D1094G
|
| Meta Mutation Damage Score |
0.0983 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.7%
|
| Validation Efficiency |
|
| Allele List at MGI |
All alleles(11) : Targeted, other(2) Gene trapped(9)
|
| Other mutations in this stock |
Total: 78 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930503E14Rik |
T |
C |
14: 44,407,796 (GRCm39) |
E79G |
probably damaging |
Het |
| 4930583I09Rik |
T |
A |
17: 65,141,288 (GRCm39) |
Q78L |
unknown |
Het |
| 9330159F19Rik |
G |
T |
10: 29,103,344 (GRCm39) |
V642F |
probably benign |
Het |
| Abca9 |
T |
A |
11: 110,006,280 (GRCm39) |
Q1275L |
probably benign |
Het |
| Abca9 |
G |
T |
11: 110,006,281 (GRCm39) |
Q1275K |
probably benign |
Het |
| Ager |
C |
T |
17: 34,819,090 (GRCm39) |
P313S |
probably benign |
Het |
| Ap4m1 |
T |
A |
5: 138,171,273 (GRCm39) |
N98K |
probably benign |
Het |
| Arhgef12 |
T |
G |
9: 42,929,650 (GRCm39) |
K215T |
possibly damaging |
Het |
| Arhgef4 |
T |
C |
1: 34,849,518 (GRCm39) |
Y370H |
probably benign |
Het |
| Bcat1 |
T |
G |
6: 144,994,488 (GRCm39) |
H3P |
probably benign |
Het |
| Btnl6 |
T |
A |
17: 34,732,635 (GRCm39) |
Q313L |
probably benign |
Het |
| Cad |
T |
C |
5: 31,229,703 (GRCm39) |
S1458P |
probably benign |
Het |
| Cfap161 |
A |
G |
7: 83,442,579 (GRCm39) |
V78A |
probably benign |
Het |
| Chd2 |
C |
A |
7: 73,079,555 (GRCm39) |
A1782S |
probably benign |
Het |
| Cimip2b |
T |
A |
4: 43,427,554 (GRCm39) |
R257* |
probably null |
Het |
| Col4a3 |
A |
T |
1: 82,668,301 (GRCm39) |
T1042S |
unknown |
Het |
| Cramp1 |
A |
T |
17: 25,196,545 (GRCm39) |
N856K |
probably damaging |
Het |
| Crispld2 |
G |
A |
8: 120,760,316 (GRCm39) |
R414H |
probably benign |
Het |
| Ctsb |
T |
A |
14: 63,370,917 (GRCm39) |
|
probably null |
Het |
| Cyp2c69 |
T |
C |
19: 39,839,504 (GRCm39) |
D373G |
possibly damaging |
Het |
| Dnah3 |
A |
G |
7: 119,644,981 (GRCm39) |
V1100A |
probably benign |
Het |
| Dnajb6 |
A |
T |
5: 29,971,374 (GRCm39) |
L225F |
probably damaging |
Het |
| Dscc1 |
A |
T |
15: 54,946,837 (GRCm39) |
I296K |
unknown |
Het |
| Epb41l2 |
A |
G |
10: 25,317,798 (GRCm39) |
D105G |
probably benign |
Het |
| Evpl |
G |
A |
11: 116,123,497 (GRCm39) |
R292C |
probably damaging |
Het |
| Flnc |
T |
C |
6: 29,455,447 (GRCm39) |
I2032T |
probably damaging |
Het |
| Fryl |
T |
A |
5: 73,222,299 (GRCm39) |
D2094V |
probably damaging |
Het |
| Gigyf2 |
A |
G |
1: 87,331,457 (GRCm39) |
S202G |
unknown |
Het |
| Hdgfl1 |
A |
T |
13: 26,953,812 (GRCm39) |
M87K |
probably benign |
Het |
| Htra3 |
T |
A |
5: 35,836,654 (GRCm39) |
I13F |
unknown |
Het |
| Igf2r |
T |
C |
17: 12,913,027 (GRCm39) |
N1774D |
probably benign |
Het |
| Ighj1 |
A |
T |
12: 113,393,446 (GRCm39) |
Y3N |
|
Het |
| Incenp |
T |
C |
19: 9,871,329 (GRCm39) |
H100R |
unknown |
Het |
| Klrb1c |
A |
G |
6: 128,760,625 (GRCm39) |
|
probably null |
Het |
| Lmbrd1 |
T |
A |
1: 24,732,065 (GRCm39) |
V94D |
probably damaging |
Het |
| Lmna |
A |
T |
3: 88,389,793 (GRCm39) |
S611T |
probably benign |
Het |
| Lsp1 |
A |
C |
7: 142,044,142 (GRCm39) |
I296L |
probably benign |
Het |
| Mdga1 |
A |
T |
17: 30,051,991 (GRCm39) |
I892N |
probably damaging |
Het |
| Micu3 |
A |
G |
8: 40,828,666 (GRCm39) |
E351G |
probably benign |
Het |
| Mrpl35 |
A |
G |
6: 71,795,704 (GRCm39) |
V61A |
probably benign |
Het |
| Nhsl1 |
A |
G |
10: 18,401,599 (GRCm39) |
K908E |
possibly damaging |
Het |
| Nlk |
A |
G |
11: 78,481,753 (GRCm39) |
L236P |
|
Het |
| Nwd1 |
T |
A |
8: 73,401,106 (GRCm39) |
H735Q |
probably damaging |
Het |
| Or1e1b-ps1 |
A |
T |
11: 73,845,656 (GRCm39) |
I47F |
probably benign |
Het |
| Or5d47 |
A |
G |
2: 87,804,596 (GRCm39) |
S138P |
possibly damaging |
Het |
| Or5w17 |
A |
T |
2: 87,583,671 (GRCm39) |
I222N |
probably damaging |
Het |
| Or7h8 |
T |
A |
9: 20,124,402 (GRCm39) |
Y252* |
probably null |
Het |
| Otof |
T |
A |
5: 30,584,895 (GRCm39) |
S70C |
probably benign |
Het |
| Pcdh20 |
A |
T |
14: 88,707,162 (GRCm39) |
V46D |
probably benign |
Het |
| Pjvk |
A |
G |
2: 76,487,827 (GRCm39) |
T240A |
probably benign |
Het |
| Pou2f1 |
A |
G |
1: 165,703,600 (GRCm39) |
S697P |
probably damaging |
Het |
| Prkn |
T |
A |
17: 11,286,062 (GRCm39) |
D18E |
possibly damaging |
Het |
| Prmt9 |
G |
A |
8: 78,307,267 (GRCm39) |
V739I |
probably benign |
Het |
| Prr14 |
A |
G |
7: 127,073,091 (GRCm39) |
D146G |
probably benign |
Het |
| Rai14 |
T |
G |
15: 10,574,803 (GRCm39) |
E747D |
probably damaging |
Het |
| Rapgef4 |
A |
T |
2: 72,036,018 (GRCm39) |
T504S |
probably benign |
Het |
| Rilpl2 |
C |
A |
5: 124,616,240 (GRCm39) |
|
probably benign |
Het |
| Ror2 |
A |
T |
13: 53,439,561 (GRCm39) |
M1K |
probably null |
Het |
| Shisa9 |
A |
G |
16: 12,085,446 (GRCm39) |
T352A |
probably benign |
Het |
| Slc35a4 |
A |
G |
18: 36,813,651 (GRCm39) |
N33S |
probably benign |
Het |
| Slx4 |
G |
T |
16: 3,806,890 (GRCm39) |
L518I |
probably benign |
Het |
| Speer1i |
A |
G |
5: 11,092,852 (GRCm39) |
K132R |
|
Het |
| Spon2 |
T |
C |
5: 33,374,702 (GRCm39) |
T35A |
probably benign |
Het |
| Syne3 |
A |
C |
12: 104,924,247 (GRCm39) |
L471R |
probably benign |
Het |
| Tas2r115 |
A |
G |
6: 132,714,390 (GRCm39) |
L187S |
probably benign |
Het |
| Tbc1d30 |
G |
T |
10: 121,102,886 (GRCm39) |
S715R |
possibly damaging |
Het |
| Tdrd1 |
A |
G |
19: 56,819,572 (GRCm39) |
E24G |
probably benign |
Het |
| Tekt2 |
C |
T |
4: 126,217,444 (GRCm39) |
R207H |
probably damaging |
Het |
| Tjp1 |
A |
G |
7: 64,962,644 (GRCm39) |
S1178P |
probably benign |
Het |
| Upf2 |
A |
G |
2: 6,051,715 (GRCm39) |
S1126G |
unknown |
Het |
| Vmn1r128 |
G |
T |
7: 21,083,362 (GRCm39) |
C22F |
probably damaging |
Het |
| Vmn2r95 |
G |
T |
17: 18,660,607 (GRCm39) |
V340F |
probably damaging |
Het |
| Vps13c |
A |
T |
9: 67,863,025 (GRCm39) |
K3014* |
probably null |
Het |
| Wdr75 |
T |
C |
1: 45,843,013 (GRCm39) |
V126A |
unknown |
Het |
| Yeats4 |
A |
T |
10: 117,053,343 (GRCm39) |
Y139* |
probably null |
Het |
| Zfp143 |
C |
G |
7: 109,692,414 (GRCm39) |
I608M |
probably damaging |
Het |
| Zfp772 |
A |
T |
7: 7,212,793 (GRCm39) |
M1K |
probably null |
Het |
| Zfp827 |
A |
G |
8: 79,906,756 (GRCm39) |
M923V |
possibly 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 |
|
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 |
|
|
|
Z1177:Zc3h13
|
UTSW |
14 |
75,565,505 (GRCm39) |
missense |
unknown |
|
|
| Predicted Primers |
PCR Primer
(F):5'- AAGCTTTCTTGTGGCGACAGG -3'
(R):5'- GTCAGGCACATCCTCATCAGAC -3'
Sequencing Primer
(F):5'- GTCTGATCGAGCCCATGATG -3'
(R):5'- GACCAGTCACTAAAGGCTGTATTTTC -3'
|
| Posted On |
2022-10-06 |
Incidental Mutation