Incidental Mutation 'R5172:Zc3h18'
| ID |
398823 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Zc3h18
|
| Ensembl Gene |
ENSMUSG00000017478 |
| Gene Name |
zinc finger CCCH-type containing 18 |
| Synonyms |
5830416A07Rik, 1190001B23Rik |
| MMRRC Submission |
042752-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.946)
|
| Stock # |
R5172 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
8 |
| Chromosomal Location |
123103348-123144099 bp(+) (GRCm39) |
| Type of Mutation |
unclassified |
| DNA Base Change (assembly) |
T to G
at 123134159 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: S542A
|
| SMART Domains |
Protein: ENSMUSP00000017622
Gene: ENSMUSG00000017478
AA Change: S542A
| 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: S518A
|
| SMART Domains |
Protein: ENSMUSP00000090761
Gene: ENSMUSG00000017478
AA Change: S518A
| 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: S542A
|
| SMART Domains |
Protein: ENSMUSP00000134743
Gene: ENSMUSG00000017478
AA Change: S542A
| 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: ENSMUST00000177195
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000177123
|
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 95.9%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 42 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc3 |
T |
C |
11: 94,266,434 (GRCm39) |
Y52C |
probably damaging |
Het |
| Acmsd |
C |
T |
1: 127,681,585 (GRCm39) |
R183* |
probably null |
Het |
| Anxa2 |
T |
A |
9: 69,392,533 (GRCm39) |
D127E |
probably damaging |
Het |
| Atrnl1 |
T |
A |
19: 57,673,945 (GRCm39) |
Y593* |
probably null |
Het |
| Atxn2 |
C |
T |
5: 121,933,098 (GRCm39) |
|
probably null |
Het |
| Ccl6 |
A |
T |
11: 83,480,169 (GRCm39) |
Y66N |
probably damaging |
Het |
| Ccng1 |
A |
G |
11: 40,642,113 (GRCm39) |
V223A |
probably benign |
Het |
| Cfap44 |
T |
C |
16: 44,269,556 (GRCm39) |
Y1187H |
probably benign |
Het |
| Cfc1 |
A |
T |
1: 34,575,011 (GRCm39) |
I10F |
probably benign |
Het |
| Chrne |
T |
A |
11: 70,506,352 (GRCm39) |
T365S |
probably benign |
Het |
| Clec4b1 |
G |
T |
6: 123,048,414 (GRCm39) |
R183L |
probably benign |
Het |
| Csmd2 |
A |
C |
4: 128,371,190 (GRCm39) |
Q1926P |
probably benign |
Het |
| Dmpk |
C |
G |
7: 18,821,944 (GRCm39) |
L301V |
probably benign |
Het |
| Dzip1 |
T |
A |
14: 119,124,563 (GRCm39) |
Q570L |
probably damaging |
Het |
| Fam149a |
T |
A |
8: 45,797,690 (GRCm39) |
Q507L |
probably damaging |
Het |
| Frem3 |
T |
C |
8: 81,339,195 (GRCm39) |
V496A |
probably benign |
Het |
| Fryl |
A |
T |
5: 73,259,016 (GRCm39) |
D589E |
possibly damaging |
Het |
| Hemk1 |
T |
C |
9: 107,206,631 (GRCm39) |
E4G |
possibly damaging |
Het |
| Igkv4-80 |
A |
C |
6: 68,993,649 (GRCm39) |
S81A |
probably benign |
Het |
| Kcnh7 |
T |
C |
2: 62,569,508 (GRCm39) |
D796G |
possibly damaging |
Het |
| Lemd2 |
G |
T |
17: 27,414,356 (GRCm39) |
S326* |
probably null |
Het |
| Mdc1 |
T |
C |
17: 36,163,982 (GRCm39) |
S1177P |
probably benign |
Het |
| Mfsd4b4 |
A |
G |
10: 39,770,083 (GRCm39) |
F78S |
probably damaging |
Het |
| Mmgt2 |
T |
A |
11: 62,555,954 (GRCm39) |
F101I |
possibly damaging |
Het |
| Myo18a |
T |
C |
11: 77,714,924 (GRCm39) |
L785P |
probably damaging |
Het |
| Nup155 |
C |
A |
15: 8,139,026 (GRCm39) |
Q33K |
probably benign |
Het |
| Or52r1c |
T |
C |
7: 102,734,884 (GRCm39) |
L48P |
probably damaging |
Het |
| Or5w19 |
A |
G |
2: 87,699,171 (GRCm39) |
T279A |
probably benign |
Het |
| Otx1 |
C |
A |
11: 21,947,037 (GRCm39) |
A91S |
probably damaging |
Het |
| Pank1 |
A |
T |
19: 34,818,202 (GRCm39) |
C112* |
probably null |
Het |
| Pcmtd1 |
T |
A |
1: 7,233,485 (GRCm39) |
M23K |
probably benign |
Het |
| Rere |
A |
T |
4: 150,654,726 (GRCm39) |
R419S |
unknown |
Het |
| Rpf1 |
T |
C |
3: 146,218,050 (GRCm39) |
R155G |
possibly damaging |
Het |
| Sema7a |
A |
G |
9: 57,864,961 (GRCm39) |
T421A |
probably benign |
Het |
| Sharpin |
A |
G |
15: 76,231,741 (GRCm39) |
S323P |
probably benign |
Het |
| Slamf6 |
A |
G |
1: 171,764,147 (GRCm39) |
E180G |
probably benign |
Het |
| Snd1 |
T |
G |
6: 28,886,615 (GRCm39) |
V874G |
possibly damaging |
Het |
| Sult6b2 |
A |
T |
6: 142,743,657 (GRCm39) |
V123D |
probably damaging |
Het |
| Tpk1 |
A |
T |
6: 43,536,951 (GRCm39) |
|
probably null |
Het |
| Vmn1r160 |
A |
T |
7: 22,570,761 (GRCm39) |
N38I |
probably damaging |
Het |
| Wdr93 |
T |
A |
7: 79,402,241 (GRCm39) |
I180N |
probably damaging |
Het |
| Ythdf3 |
C |
T |
3: 16,258,198 (GRCm39) |
T119I |
probably damaging |
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 |
|
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 |
|
|
R8797:Zc3h18
|
UTSW |
8 |
123,134,989 (GRCm39) |
unclassified |
probably benign |
|
|
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'- TGTCTCAGGTGAATGCCCTG -3'
(R):5'- ACAACACTTGGCATCAGTCC -3'
Sequencing Primer
(F):5'- GGCTTTCCAGTCTCTCTTCACAG -3'
(R):5'- GGCATCAGTCCTCCCTAGTAATC -3'
|
| Posted On |
2016-07-06 |
Incidental Mutation