Incidental Mutation 'R8031:Zc3h13'
| ID |
617977 |
| 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 |
067469-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.959)
|
| Stock # |
R8031 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
14 |
| Chromosomal Location |
75521813-75581866 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 75568070 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Asparagine
at position 1121
(I1121N)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000022577
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000022577]
|
| AlphaFold |
E9Q784 |
| Predicted Effect |
not run
Transcript: ENSMUST00000022577
AA Change: I1121N
|
| SMART Domains |
Protein: ENSMUSP00000022577
Gene: ENSMUSG00000022000
AA Change: I1121N
| 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 |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.0%
|
| Validation Efficiency |
100% (60/60) |
| Allele List at MGI |
All alleles(11) : Targeted, other(2) Gene trapped(9)
|
| Other mutations in this stock |
Total: 61 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ace3 |
T |
C |
11: 105,888,924 (GRCm39) |
|
probably null |
Het |
| Arhgdib |
A |
G |
6: 136,901,274 (GRCm39) |
Y152H |
probably benign |
Het |
| Atxn10 |
T |
G |
15: 85,277,594 (GRCm39) |
S354A |
probably benign |
Het |
| Cacng6 |
T |
C |
7: 3,473,401 (GRCm39) |
V75A |
possibly damaging |
Het |
| Cdc23 |
A |
G |
18: 34,784,741 (GRCm39) |
V7A |
unknown |
Het |
| Cdc40 |
T |
A |
10: 40,728,512 (GRCm39) |
E157D |
probably benign |
Het |
| Defa25 |
T |
A |
8: 21,575,253 (GRCm39) |
N77K |
probably benign |
Het |
| Dsc2 |
C |
T |
18: 20,165,331 (GRCm39) |
G881R |
possibly damaging |
Het |
| Efcab3 |
T |
C |
11: 104,772,295 (GRCm39) |
V2659A |
possibly damaging |
Het |
| Efcab6 |
T |
C |
15: 83,867,699 (GRCm39) |
K260E |
possibly damaging |
Het |
| Eif4a3 |
T |
C |
11: 119,179,731 (GRCm39) |
Y352C |
probably damaging |
Het |
| Erc2 |
A |
T |
14: 27,733,649 (GRCm39) |
K566N |
probably damaging |
Het |
| Fam3b |
A |
C |
16: 97,283,052 (GRCm39) |
Y74* |
probably null |
Het |
| Flg2 |
T |
A |
3: 93,127,521 (GRCm39) |
S2144R |
unknown |
Het |
| Fmo4 |
G |
T |
1: 162,626,421 (GRCm39) |
S375* |
probably null |
Het |
| Fsip2 |
A |
G |
2: 82,817,235 (GRCm39) |
T4323A |
probably benign |
Het |
| Gm16503 |
A |
T |
4: 147,625,767 (GRCm39) |
H87L |
unknown |
Het |
| Hes7 |
C |
T |
11: 69,013,591 (GRCm39) |
A150V |
probably damaging |
Het |
| Hk1 |
T |
A |
10: 62,132,478 (GRCm39) |
N190I |
probably benign |
Het |
| Il17rc |
A |
G |
6: 113,459,782 (GRCm39) |
D576G |
probably damaging |
Het |
| Inhba |
T |
A |
13: 16,200,860 (GRCm39) |
S141T |
possibly damaging |
Het |
| Itga8 |
G |
T |
2: 12,160,297 (GRCm39) |
D840E |
probably benign |
Het |
| Kazn |
T |
C |
4: 141,881,862 (GRCm39) |
E126G |
|
Het |
| Kcnk13 |
A |
G |
12: 99,932,438 (GRCm39) |
Y78C |
probably damaging |
Het |
| Kcnt1 |
C |
A |
2: 25,798,054 (GRCm39) |
|
probably benign |
Het |
| Krt42 |
G |
C |
11: 100,155,865 (GRCm39) |
R294G |
possibly damaging |
Het |
| Myo9a |
A |
G |
9: 59,687,374 (GRCm39) |
K160E |
probably benign |
Het |
| Nlrp1b |
T |
C |
11: 71,107,747 (GRCm39) |
R585G |
probably benign |
Het |
| Ntrk2 |
T |
C |
13: 59,022,193 (GRCm39) |
I416T |
probably benign |
Het |
| Or4c112 |
A |
T |
2: 88,853,972 (GRCm39) |
I125N |
probably damaging |
Het |
| Or52h7 |
T |
A |
7: 104,214,316 (GRCm39) |
I296N |
probably damaging |
Het |
| Or5k14 |
T |
C |
16: 58,693,054 (GRCm39) |
N153S |
probably benign |
Het |
| Or8k33 |
G |
A |
2: 86,384,447 (GRCm39) |
T7I |
probably damaging |
Het |
| P4ha3 |
A |
G |
7: 99,941,905 (GRCm39) |
E106G |
probably damaging |
Het |
| Pcif1 |
A |
G |
2: 164,728,442 (GRCm39) |
N233S |
probably damaging |
Het |
| Pgm2l1 |
C |
A |
7: 99,921,625 (GRCm39) |
R619S |
probably damaging |
Het |
| Pkhd1l1 |
A |
G |
15: 44,376,230 (GRCm39) |
Q964R |
probably damaging |
Het |
| Pla2g4a |
T |
A |
1: 149,776,964 (GRCm39) |
I89F |
possibly damaging |
Het |
| Ppp1cc |
G |
A |
5: 122,312,151 (GRCm39) |
A306T |
probably benign |
Het |
| Psmd4 |
T |
C |
3: 94,943,203 (GRCm39) |
D67G |
probably damaging |
Het |
| Ptprt |
G |
A |
2: 161,977,377 (GRCm39) |
T307I |
probably damaging |
Het |
| Rnf213 |
C |
A |
11: 119,321,107 (GRCm39) |
C1188* |
probably null |
Het |
| Ror2 |
C |
T |
13: 53,267,193 (GRCm39) |
C426Y |
probably damaging |
Het |
| Sacs |
C |
T |
14: 61,441,640 (GRCm39) |
H1229Y |
probably damaging |
Het |
| Slc25a25 |
A |
T |
2: 32,311,517 (GRCm39) |
L118Q |
probably damaging |
Het |
| Slc38a6 |
G |
A |
12: 73,397,377 (GRCm39) |
A340T |
probably benign |
Het |
| Smarca5 |
A |
T |
8: 81,431,311 (GRCm39) |
Y969N |
probably damaging |
Het |
| Sorbs1 |
C |
A |
19: 40,314,933 (GRCm39) |
M626I |
probably benign |
Het |
| Spink5 |
T |
A |
18: 44,143,303 (GRCm39) |
D753E |
probably benign |
Het |
| Taf1d |
T |
G |
9: 15,221,695 (GRCm39) |
I226S |
probably damaging |
Het |
| Tmem225 |
A |
G |
9: 40,060,689 (GRCm39) |
I83V |
possibly damaging |
Het |
| Top2b |
A |
G |
14: 16,412,986 (GRCm38) |
D965G |
probably damaging |
Het |
| Traf3ip1 |
A |
G |
1: 91,429,141 (GRCm39) |
K303E |
probably damaging |
Het |
| Ube2n |
C |
T |
10: 95,377,244 (GRCm39) |
R70C |
probably benign |
Het |
| Ubl7 |
C |
T |
9: 57,830,489 (GRCm39) |
P312S |
probably damaging |
Het |
| Vmn1r34 |
A |
T |
6: 66,614,165 (GRCm39) |
M191K |
probably damaging |
Het |
| Vmn2r103 |
C |
T |
17: 20,013,759 (GRCm39) |
H184Y |
probably benign |
Het |
| Vmn2r104 |
T |
C |
17: 20,263,048 (GRCm39) |
I138V |
probably benign |
Het |
| Vmn2r49 |
T |
C |
7: 9,720,408 (GRCm39) |
E361G |
possibly damaging |
Het |
| Vmn2r78 |
T |
C |
7: 86,604,075 (GRCm39) |
L751P |
probably damaging |
Het |
| Zfp235 |
T |
A |
7: 23,841,114 (GRCm39) |
V511E |
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 |
|
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 |
|
| Posted On |
2020-01-23 |
Incidental Mutation