Incidental Mutation 'R9082:Zc3h13'
| ID |
690097 |
| 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 |
068901-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.964)
|
| Stock # |
R9082 (G1)
|
| Quality Score |
217.468 |
|
Status
|
Validated
|
| Chromosome |
14 |
| Chromosomal Location |
75521813-75581866 bp(+) (GRCm39) |
| Type of Mutation |
small deletion (6 aa in frame mutation) |
| DNA Base Change (assembly) |
CAGAGACCGGGACAGAAGGAGAGAC to CAGAGAC
at 75569381 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000153882
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000022577]
[ENSMUST00000227049]
|
| AlphaFold |
E9Q784 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000022577
|
| SMART Domains |
Protein: ENSMUSP00000022577
Gene: ENSMUSG00000022000
| 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 |
probably benign
Transcript: ENSMUST00000227049
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.3%
|
| Validation Efficiency |
100% (55/55) |
| Allele List at MGI |
All alleles(11) : Targeted, other(2) Gene trapped(9)
|
| Other mutations in this stock |
Total: 54 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Afm |
G |
T |
5: 90,698,095 (GRCm39) |
C499F |
probably damaging |
Het |
| Agap2 |
A |
G |
10: 126,918,911 (GRCm39) |
E429G |
probably damaging |
Het |
| Ankrd22 |
A |
T |
19: 34,126,662 (GRCm39) |
V56D |
probably damaging |
Het |
| Apol11b |
C |
T |
15: 77,524,771 (GRCm39) |
E5K |
possibly damaging |
Het |
| Ccdc168 |
G |
A |
1: 44,099,874 (GRCm39) |
S408L |
unknown |
Het |
| Cdk4 |
T |
A |
10: 126,900,732 (GRCm39) |
L128Q |
probably damaging |
Het |
| Clu |
T |
C |
14: 66,217,153 (GRCm39) |
S329P |
probably damaging |
Het |
| Cntnap5c |
A |
G |
17: 58,637,335 (GRCm39) |
N1071D |
probably damaging |
Het |
| Col5a1 |
T |
C |
2: 27,852,122 (GRCm39) |
S540P |
possibly damaging |
Het |
| Cpne2 |
A |
C |
8: 95,295,237 (GRCm39) |
I441L |
probably benign |
Het |
| Ctu2 |
T |
C |
8: 123,203,952 (GRCm39) |
S87P |
probably damaging |
Het |
| Dhodh |
G |
T |
8: 110,322,734 (GRCm39) |
N211K |
probably damaging |
Het |
| Dtnb |
G |
A |
12: 3,822,740 (GRCm39) |
A570T |
possibly damaging |
Het |
| Eif3m |
A |
T |
2: 104,836,217 (GRCm39) |
V209E |
probably damaging |
Het |
| Fbxo31 |
G |
A |
8: 122,281,136 (GRCm39) |
R337C |
probably damaging |
Het |
| Fktn |
T |
C |
4: 53,720,010 (GRCm39) |
V8A |
unknown |
Het |
| Ftdc1 |
T |
C |
16: 58,437,294 (GRCm39) |
R5G |
probably benign |
Het |
| Gcnt1 |
G |
T |
19: 17,307,559 (GRCm39) |
S55R |
probably benign |
Het |
| Gm11011 |
G |
T |
2: 169,426,424 (GRCm39) |
P63Q |
|
Het |
| Grk5 |
T |
C |
19: 61,034,567 (GRCm39) |
I105T |
possibly damaging |
Het |
| Gskip |
G |
A |
12: 105,665,009 (GRCm39) |
S16N |
probably benign |
Het |
| Gys1 |
C |
A |
7: 45,088,917 (GRCm39) |
N169K |
probably benign |
Het |
| Itgb2 |
T |
C |
10: 77,384,503 (GRCm39) |
L208P |
probably damaging |
Het |
| Kcnh7 |
A |
G |
2: 62,607,878 (GRCm39) |
C568R |
probably damaging |
Het |
| Krt84 |
C |
T |
15: 101,440,814 (GRCm39) |
G126D |
unknown |
Het |
| Lrrc26 |
T |
A |
2: 25,180,344 (GRCm39) |
F115Y |
probably damaging |
Het |
| Mul1 |
T |
C |
4: 138,166,945 (GRCm39) |
I338T |
probably damaging |
Het |
| Ncam2 |
T |
A |
16: 81,412,660 (GRCm39) |
L716H |
probably damaging |
Het |
| Ncoa1 |
C |
T |
12: 4,346,106 (GRCm39) |
V414I |
probably benign |
Het |
| Negr1 |
C |
A |
3: 156,774,876 (GRCm39) |
C197* |
probably null |
Het |
| Nisch |
G |
T |
14: 30,899,331 (GRCm39) |
A438E |
unknown |
Het |
| Nsun5 |
T |
C |
5: 135,402,828 (GRCm39) |
L174P |
probably damaging |
Het |
| Obscn |
A |
T |
11: 58,903,612 (GRCm39) |
V7454E |
probably benign |
Het |
| Optn |
A |
C |
2: 5,059,451 (GRCm39) |
N22K |
probably damaging |
Het |
| Or5k15 |
C |
T |
16: 58,709,834 (GRCm39) |
V250M |
probably damaging |
Het |
| Or6d13 |
G |
A |
6: 116,517,969 (GRCm39) |
C185Y |
probably damaging |
Het |
| Pcdhb22 |
A |
G |
18: 37,653,047 (GRCm39) |
N248S |
probably damaging |
Het |
| Pcnx2 |
A |
C |
8: 126,613,753 (GRCm39) |
L566R |
probably damaging |
Het |
| Pdlim5 |
C |
T |
3: 142,009,163 (GRCm39) |
V191I |
possibly damaging |
Het |
| Pdzrn3 |
C |
T |
6: 101,146,094 (GRCm39) |
|
probably null |
Het |
| Peak1 |
A |
T |
9: 56,165,504 (GRCm39) |
I808N |
probably benign |
Het |
| Pomt1 |
A |
C |
2: 32,142,973 (GRCm39) |
Y617S |
probably damaging |
Het |
| Ptch2 |
G |
A |
4: 116,962,297 (GRCm39) |
|
probably null |
Het |
| Rptn |
A |
G |
3: 93,302,928 (GRCm39) |
H87R |
possibly damaging |
Het |
| Sez6 |
G |
A |
11: 77,865,121 (GRCm39) |
E623K |
possibly damaging |
Het |
| Slc37a4 |
A |
G |
9: 44,313,016 (GRCm39) |
T333A |
probably benign |
Het |
| Slc5a7 |
A |
G |
17: 54,604,139 (GRCm39) |
V9A |
probably benign |
Het |
| Slc6a20a |
A |
G |
9: 123,507,832 (GRCm39) |
F14L |
possibly damaging |
Het |
| Smg7 |
A |
T |
1: 152,715,928 (GRCm39) |
M1062K |
probably damaging |
Het |
| Tsc22d4 |
T |
C |
5: 137,749,509 (GRCm39) |
Y262H |
probably damaging |
Het |
| Vmn2r83 |
C |
T |
10: 79,304,894 (GRCm39) |
H35Y |
probably benign |
Het |
| Zeb1 |
C |
T |
18: 5,772,557 (GRCm39) |
H949Y |
probably damaging |
Het |
| Zfp184 |
T |
A |
13: 22,143,636 (GRCm39) |
H447Q |
probably damaging |
Het |
| Zfp551 |
T |
C |
7: 12,151,004 (GRCm39) |
E135G |
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 |
|
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 |
|
|
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'- AAGAAGCTCTCCTGAGTCGG -3'
(R):5'- TTTCTTTGTCCAAGGCCACGG -3'
Sequencing Primer
(F):5'- ATCGGCAGGTTCACTCAAG -3'
(R):5'- TCCAAGGCCACGGAGTCC -3'
|
| Posted On |
2021-11-19 |
Incidental Mutation