Incidental Mutation 'R8797:Zc3h18'
| ID |
671313 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Zc3h18
|
| Ensembl Gene |
ENSMUSG00000017478 |
| Gene Name |
zinc finger CCCH-type containing 18 |
| Synonyms |
5830416A07Rik, 1190001B23Rik |
| MMRRC Submission |
068638-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.946)
|
| Stock # |
R8797 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
8 |
| Chromosomal Location |
123103348-123144099 bp(+) (GRCm39) |
| Type of Mutation |
unclassified |
| DNA Base Change (assembly) |
T to C
at 123134989 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000017622]
[ENSMUST00000093073]
[ENSMUST00000127664]
[ENSMUST00000176629]
|
| AlphaFold |
Q0P678 |
| Predicted Effect |
unknown
Transcript: ENSMUST00000017622
AA Change: S579P
|
| SMART Domains |
Protein: ENSMUSP00000017622
Gene: ENSMUSG00000017478
AA Change: S579P
| Domain | Start | End | E-Value | Type |
|---|
|
coiled coil region
|
105 |
129 |
N/A |
INTRINSIC |
|
low complexity region
|
180 |
205 |
N/A |
INTRINSIC |
|
Blast:ZnF_C3H1
|
215 |
264 |
3e-9 |
BLAST |
|
low complexity region
|
279 |
293 |
N/A |
INTRINSIC |
|
low complexity region
|
309 |
316 |
N/A |
INTRINSIC |
|
coiled coil region
|
418 |
484 |
N/A |
INTRINSIC |
|
low complexity region
|
552 |
640 |
N/A |
INTRINSIC |
|
low complexity region
|
642 |
655 |
N/A |
INTRINSIC |
|
low complexity region
|
658 |
677 |
N/A |
INTRINSIC |
|
low complexity region
|
689 |
703 |
N/A |
INTRINSIC |
|
low complexity region
|
705 |
748 |
N/A |
INTRINSIC |
|
low complexity region
|
756 |
770 |
N/A |
INTRINSIC |
|
low complexity region
|
794 |
828 |
N/A |
INTRINSIC |
|
low complexity region
|
871 |
887 |
N/A |
INTRINSIC |
|
low complexity region
|
898 |
910 |
N/A |
INTRINSIC |
|
coiled coil region
|
940 |
968 |
N/A |
INTRINSIC |
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000093073
AA Change: S555P
|
| SMART Domains |
Protein: ENSMUSP00000090761
Gene: ENSMUSG00000017478
AA Change: S555P
| Domain | Start | End | E-Value | Type |
|---|
|
coiled coil region
|
105 |
129 |
N/A |
INTRINSIC |
|
low complexity region
|
180 |
205 |
N/A |
INTRINSIC |
|
ZnF_C3H1
|
215 |
240 |
2.57e-3 |
SMART |
|
low complexity region
|
255 |
269 |
N/A |
INTRINSIC |
|
low complexity region
|
285 |
292 |
N/A |
INTRINSIC |
|
coiled coil region
|
394 |
460 |
N/A |
INTRINSIC |
|
low complexity region
|
528 |
616 |
N/A |
INTRINSIC |
|
low complexity region
|
618 |
631 |
N/A |
INTRINSIC |
|
low complexity region
|
634 |
653 |
N/A |
INTRINSIC |
|
low complexity region
|
665 |
679 |
N/A |
INTRINSIC |
|
low complexity region
|
681 |
724 |
N/A |
INTRINSIC |
|
low complexity region
|
732 |
746 |
N/A |
INTRINSIC |
|
low complexity region
|
770 |
804 |
N/A |
INTRINSIC |
|
low complexity region
|
847 |
863 |
N/A |
INTRINSIC |
|
low complexity region
|
874 |
886 |
N/A |
INTRINSIC |
|
coiled coil region
|
916 |
944 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000127664
|
| SMART Domains |
Protein: ENSMUSP00000118564
Gene: ENSMUSG00000092329
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Glycos_transf_2
|
104 |
287 |
7.4e-31 |
PFAM |
|
Pfam:Glyco_transf_7C
|
261 |
331 |
4.9e-8 |
PFAM |
|
RICIN
|
406 |
531 |
9.28e-27 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000175798
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000175819
|
| SMART Domains |
Protein: ENSMUSP00000135055
Gene: ENSMUSG00000017478
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
3 |
34 |
N/A |
INTRINSIC |
|
low complexity region
|
67 |
133 |
N/A |
INTRINSIC |
|
low complexity region
|
138 |
157 |
N/A |
INTRINSIC |
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000176629
AA Change: S579P
|
| SMART Domains |
Protein: ENSMUSP00000134743
Gene: ENSMUSG00000017478
AA Change: S579P
| Domain | Start | End | E-Value | Type |
|---|
|
coiled coil region
|
105 |
129 |
N/A |
INTRINSIC |
|
low complexity region
|
180 |
205 |
N/A |
INTRINSIC |
|
Blast:ZnF_C3H1
|
215 |
264 |
6e-9 |
BLAST |
|
low complexity region
|
279 |
293 |
N/A |
INTRINSIC |
|
low complexity region
|
309 |
316 |
N/A |
INTRINSIC |
|
coiled coil region
|
418 |
484 |
N/A |
INTRINSIC |
|
low complexity region
|
552 |
640 |
N/A |
INTRINSIC |
|
low complexity region
|
642 |
655 |
N/A |
INTRINSIC |
|
low complexity region
|
658 |
677 |
N/A |
INTRINSIC |
|
low complexity region
|
702 |
726 |
N/A |
INTRINSIC |
|
low complexity region
|
734 |
748 |
N/A |
INTRINSIC |
|
low complexity region
|
772 |
806 |
N/A |
INTRINSIC |
|
low complexity region
|
849 |
865 |
N/A |
INTRINSIC |
|
low complexity region
|
876 |
888 |
N/A |
INTRINSIC |
|
coiled coil region
|
918 |
946 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000177049
|
| SMART Domains |
Protein: ENSMUSP00000135014
Gene: ENSMUSG00000017478
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
23 |
37 |
N/A |
INTRINSIC |
|
low complexity region
|
39 |
82 |
N/A |
INTRINSIC |
|
low complexity region
|
90 |
104 |
N/A |
INTRINSIC |
|
low complexity region
|
128 |
162 |
N/A |
INTRINSIC |
|
low complexity region
|
205 |
221 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000177123
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000177195
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.9%
- 20x: 99.6%
|
| Validation Efficiency |
100% (50/50) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 50 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acsm5 |
C |
A |
7: 119,137,374 (GRCm39) |
P397T |
probably damaging |
Het |
| Adamts14 |
C |
T |
10: 61,106,781 (GRCm39) |
R113K |
probably benign |
Het |
| Baiap2 |
G |
A |
11: 119,897,201 (GRCm39) |
V519I |
probably benign |
Het |
| Ccna1 |
C |
T |
3: 54,953,069 (GRCm39) |
A233T |
probably benign |
Het |
| Cdon |
T |
C |
9: 35,389,931 (GRCm39) |
Y862H |
probably damaging |
Het |
| Crygc |
C |
T |
1: 65,111,030 (GRCm39) |
A86T |
probably benign |
Het |
| Cyb5d2 |
T |
G |
11: 72,669,662 (GRCm39) |
N232T |
probably benign |
Het |
| Dnah14 |
C |
A |
1: 181,465,412 (GRCm39) |
H1193N |
probably benign |
Het |
| Dnah17 |
T |
G |
11: 117,992,201 (GRCm39) |
E1170A |
probably benign |
Het |
| Dnah7b |
A |
G |
1: 46,162,806 (GRCm39) |
Y384C |
probably damaging |
Het |
| Fat4 |
G |
A |
3: 39,053,278 (GRCm39) |
V4091I |
probably benign |
Het |
| Fbxl12 |
C |
A |
9: 20,550,160 (GRCm39) |
R165L |
possibly damaging |
Het |
| G6pc2 |
A |
G |
2: 69,050,441 (GRCm39) |
Y22C |
probably benign |
Het |
| Gpihbp1 |
A |
T |
15: 75,469,828 (GRCm39) |
Q181L |
possibly damaging |
Het |
| H2bc4 |
C |
T |
13: 23,868,552 (GRCm39) |
S113L |
probably damaging |
Het |
| Hhatl |
A |
T |
9: 121,619,965 (GRCm39) |
|
probably benign |
Het |
| Iars1 |
C |
A |
13: 49,841,738 (GRCm39) |
S75R |
probably benign |
Het |
| Igfn1 |
T |
A |
1: 135,902,573 (GRCm39) |
I375F |
possibly damaging |
Het |
| Itih4 |
A |
G |
14: 30,618,529 (GRCm39) |
I647V |
probably benign |
Het |
| Jmjd1c |
T |
A |
10: 67,060,616 (GRCm39) |
C703S |
probably benign |
Het |
| L3mbtl2 |
C |
T |
15: 81,569,615 (GRCm39) |
T619I |
possibly damaging |
Het |
| Lct |
T |
C |
1: 128,231,684 (GRCm39) |
T722A |
possibly damaging |
Het |
| Meioc |
C |
T |
11: 102,567,686 (GRCm39) |
Q827* |
probably null |
Het |
| Meis2 |
T |
C |
2: 115,694,986 (GRCm39) |
S386G |
probably benign |
Het |
| Mroh8 |
T |
A |
2: 157,071,876 (GRCm39) |
D543V |
probably damaging |
Het |
| Ms4a13 |
C |
T |
19: 11,161,200 (GRCm39) |
R113H |
probably benign |
Het |
| Myrfl |
T |
C |
10: 116,613,325 (GRCm39) |
Y826C |
probably benign |
Het |
| Nf1 |
T |
C |
11: 79,366,711 (GRCm39) |
|
probably benign |
Het |
| Nrg3 |
A |
C |
14: 38,093,243 (GRCm39) |
L542R |
probably benign |
Het |
| Or13j1 |
T |
C |
4: 43,706,455 (GRCm39) |
T38A |
probably damaging |
Het |
| Or2y8 |
T |
A |
11: 52,036,340 (GRCm39) |
T6S |
probably benign |
Het |
| Or6c65 |
T |
A |
10: 129,603,674 (GRCm39) |
I103K |
probably damaging |
Het |
| Pcdh15 |
A |
G |
10: 74,419,978 (GRCm39) |
N1212S |
probably damaging |
Het |
| Pcsk5 |
G |
A |
19: 17,443,472 (GRCm39) |
T1229I |
probably benign |
Het |
| Pkd1l3 |
A |
T |
8: 110,374,946 (GRCm39) |
H1483L |
probably benign |
Het |
| Polr3b |
T |
A |
10: 84,532,879 (GRCm39) |
L840* |
probably null |
Het |
| Psd4 |
A |
T |
2: 24,287,440 (GRCm39) |
R457S |
probably benign |
Het |
| Relch |
T |
C |
1: 105,678,121 (GRCm39) |
S1149P |
possibly damaging |
Het |
| Rgs12 |
A |
G |
5: 35,186,915 (GRCm39) |
S194G |
|
Het |
| Rps3 |
A |
G |
7: 99,132,797 (GRCm39) |
|
probably null |
Het |
| Saxo4 |
T |
C |
19: 10,455,602 (GRCm39) |
I216V |
probably benign |
Het |
| Sgcb |
G |
T |
5: 73,793,036 (GRCm39) |
N255K |
probably benign |
Het |
| Sla2 |
A |
G |
2: 156,717,799 (GRCm39) |
Y158H |
probably damaging |
Het |
| Sla2 |
G |
A |
2: 156,717,823 (GRCm39) |
Q150* |
probably null |
Het |
| Slc12a2 |
T |
A |
18: 58,012,455 (GRCm39) |
Y193N |
possibly damaging |
Het |
| Supt16 |
G |
T |
14: 52,409,960 (GRCm39) |
T749K |
probably damaging |
Het |
| Uqcrc2 |
A |
G |
7: 120,239,500 (GRCm39) |
E104G |
probably damaging |
Het |
| Vasp |
T |
C |
7: 18,994,563 (GRCm39) |
N251S |
unknown |
Het |
| Vmn1r72 |
A |
G |
7: 11,403,965 (GRCm39) |
M161T |
probably benign |
Het |
| Zfp981 |
T |
A |
4: 146,619,906 (GRCm39) |
L20* |
probably null |
Het |
|
| Other mutations in Zc3h18 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00326:Zc3h18
|
APN |
8 |
123,113,591 (GRCm39) |
unclassified |
probably benign |
|
|
IGL01160:Zc3h18
|
APN |
8 |
123,134,989 (GRCm39) |
unclassified |
probably benign |
|
|
IGL01472:Zc3h18
|
APN |
8 |
123,143,396 (GRCm39) |
unclassified |
probably benign |
|
|
R1525:Zc3h18
|
UTSW |
8 |
123,140,677 (GRCm39) |
missense |
probably benign |
0.34 |
|
R1996:Zc3h18
|
UTSW |
8 |
123,134,126 (GRCm39) |
unclassified |
probably benign |
|
|
R2351:Zc3h18
|
UTSW |
8 |
123,129,926 (GRCm39) |
nonsense |
probably null |
|
|
R2398:Zc3h18
|
UTSW |
8 |
123,140,605 (GRCm39) |
intron |
probably benign |
|
|
R2516:Zc3h18
|
UTSW |
8 |
123,129,904 (GRCm39) |
intron |
probably benign |
|
|
R4435:Zc3h18
|
UTSW |
8 |
123,140,691 (GRCm39) |
critical splice donor site |
probably null |
|
|
R4734:Zc3h18
|
UTSW |
8 |
123,110,382 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4749:Zc3h18
|
UTSW |
8 |
123,110,382 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4885:Zc3h18
|
UTSW |
8 |
123,128,445 (GRCm39) |
intron |
probably benign |
|
|
R4952:Zc3h18
|
UTSW |
8 |
123,137,639 (GRCm39) |
unclassified |
probably benign |
|
|
R5001:Zc3h18
|
UTSW |
8 |
123,110,259 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5098:Zc3h18
|
UTSW |
8 |
123,113,608 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5172:Zc3h18
|
UTSW |
8 |
123,134,159 (GRCm39) |
unclassified |
probably benign |
|
|
R5213:Zc3h18
|
UTSW |
8 |
123,110,388 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5337:Zc3h18
|
UTSW |
8 |
123,113,641 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5558:Zc3h18
|
UTSW |
8 |
123,113,659 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5611:Zc3h18
|
UTSW |
8 |
123,135,109 (GRCm39) |
critical splice donor site |
probably null |
|
|
R6080:Zc3h18
|
UTSW |
8 |
123,143,283 (GRCm39) |
unclassified |
probably benign |
|
|
R6315:Zc3h18
|
UTSW |
8 |
123,110,604 (GRCm39) |
missense |
probably benign |
0.28 |
|
R6349:Zc3h18
|
UTSW |
8 |
123,135,025 (GRCm39) |
unclassified |
probably benign |
|
|
R7371:Zc3h18
|
UTSW |
8 |
123,139,760 (GRCm39) |
missense |
unknown |
|
|
R7513:Zc3h18
|
UTSW |
8 |
123,134,993 (GRCm39) |
missense |
unknown |
|
|
R7674:Zc3h18
|
UTSW |
8 |
123,110,295 (GRCm39) |
frame shift |
probably null |
|
|
R7684:Zc3h18
|
UTSW |
8 |
123,134,165 (GRCm39) |
missense |
unknown |
|
|
R7685:Zc3h18
|
UTSW |
8 |
123,140,615 (GRCm39) |
missense |
unknown |
|
|
R7686:Zc3h18
|
UTSW |
8 |
123,140,615 (GRCm39) |
missense |
unknown |
|
|
R7849:Zc3h18
|
UTSW |
8 |
123,110,710 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8759:Zc3h18
|
UTSW |
8 |
123,138,124 (GRCm39) |
missense |
unknown |
|
|
R8986:Zc3h18
|
UTSW |
8 |
123,134,193 (GRCm39) |
missense |
unknown |
|
|
R9016:Zc3h18
|
UTSW |
8 |
123,129,963 (GRCm39) |
missense |
unknown |
|
|
V1024:Zc3h18
|
UTSW |
8 |
123,110,596 (GRCm39) |
unclassified |
probably benign |
|
|
| Predicted Primers |
PCR Primer
(F):5'- CGCACTCAAACTAGTCTCTGG -3'
(R):5'- TGCGAGAGACACGACACTTG -3'
Sequencing Primer
(F):5'- CTCTCTGCATGGCACTGTGG -3'
(R):5'- GAGAGACACGACACTTGACCCAC -3'
|
| Posted On |
2021-04-30 |
Incidental Mutation