Incidental Mutation 'R1525:Zc3h18'
| ID |
167789 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Zc3h18
|
| Ensembl Gene |
ENSMUSG00000017478 |
| Gene Name |
zinc finger CCCH-type containing 18 |
| Synonyms |
5830416A07Rik, 1190001B23Rik |
| MMRRC Submission |
040872-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.946)
|
| Stock # |
R1525 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
8 |
| Chromosomal Location |
123103348-123144099 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 123140677 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 847
(S847P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000090761
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000017622]
[ENSMUST00000093073]
[ENSMUST00000127664]
[ENSMUST00000176629]
|
| AlphaFold |
Q0P678 |
| Predicted Effect |
unknown
Transcript: ENSMUST00000017622
AA Change: S871P
|
| SMART Domains |
Protein: ENSMUSP00000017622
Gene: ENSMUSG00000017478
AA Change: S871P
| 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 |
probably benign
Transcript: ENSMUST00000093073
AA Change: S847P
PolyPhen 2
Score 0.335 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000090761
Gene: ENSMUSG00000017478
AA Change: S847P
| 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: S849P
|
| SMART Domains |
Protein: ENSMUSP00000134743
Gene: ENSMUSG00000017478
AA Change: S849P
| 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 |
unknown
Transcript: ENSMUST00000177049
AA Change: S204P
|
| SMART Domains |
Protein: ENSMUSP00000135014
Gene: ENSMUSG00000017478
AA Change: S204P
| 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
|
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.3%
- 10x: 96.2%
- 20x: 92.6%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 52 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc3 |
A |
T |
11: 94,252,062 (GRCm39) |
H840Q |
probably benign |
Het |
| Amotl2 |
C |
T |
9: 102,605,767 (GRCm39) |
R540C |
probably damaging |
Het |
| Brpf1 |
A |
G |
6: 113,294,115 (GRCm39) |
E605G |
probably damaging |
Het |
| Cacna2d3 |
T |
C |
14: 28,694,199 (GRCm39) |
I865V |
probably benign |
Het |
| Cdh24 |
A |
T |
14: 54,876,046 (GRCm39) |
F199I |
probably damaging |
Het |
| Cdk9 |
A |
G |
2: 32,600,521 (GRCm39) |
V27A |
probably damaging |
Het |
| Cfap69 |
G |
T |
5: 5,690,230 (GRCm39) |
|
probably null |
Het |
| Cyp2d11 |
G |
T |
15: 82,273,498 (GRCm39) |
L458I |
probably damaging |
Het |
| Dchs1 |
T |
C |
7: 105,408,138 (GRCm39) |
E1898G |
probably damaging |
Het |
| Dennd4b |
G |
T |
3: 90,178,177 (GRCm39) |
L456F |
probably damaging |
Het |
| Dgat1 |
T |
C |
15: 76,395,786 (GRCm39) |
T66A |
probably benign |
Het |
| Dock10 |
C |
A |
1: 80,583,881 (GRCm39) |
|
probably null |
Het |
| Fam110b |
A |
G |
4: 5,799,578 (GRCm39) |
D332G |
possibly damaging |
Het |
| Fem1al |
A |
C |
11: 29,773,994 (GRCm39) |
Y488D |
probably benign |
Het |
| Frmd4b |
G |
A |
6: 97,273,347 (GRCm39) |
P628S |
probably damaging |
Het |
| Ice1 |
A |
T |
13: 70,753,529 (GRCm39) |
H852Q |
probably benign |
Het |
| Il17ra |
T |
C |
6: 120,450,751 (GRCm39) |
V116A |
probably damaging |
Het |
| Ints9 |
T |
C |
14: 65,232,460 (GRCm39) |
I173T |
probably benign |
Het |
| Kctd14 |
A |
T |
7: 97,107,074 (GRCm39) |
M110L |
probably benign |
Het |
| Krt6a |
T |
G |
15: 101,602,637 (GRCm39) |
Y16S |
probably benign |
Het |
| Lamc2 |
T |
C |
1: 153,006,502 (GRCm39) |
N883S |
probably benign |
Het |
| Larp4b |
C |
T |
13: 9,195,486 (GRCm39) |
T195M |
probably damaging |
Het |
| Lrp1 |
A |
G |
10: 127,375,398 (GRCm39) |
L4432P |
probably damaging |
Het |
| Mei4 |
T |
C |
9: 81,772,252 (GRCm39) |
S22P |
probably damaging |
Het |
| Mep1a |
T |
C |
17: 43,802,527 (GRCm39) |
Q166R |
probably damaging |
Het |
| Mroh2b |
C |
A |
15: 4,980,612 (GRCm39) |
|
probably null |
Het |
| Myoc |
T |
G |
1: 162,476,220 (GRCm39) |
L308R |
probably damaging |
Het |
| Ndn |
C |
T |
7: 61,998,256 (GRCm39) |
P34L |
probably benign |
Het |
| Or1j21 |
A |
T |
2: 36,684,155 (GRCm39) |
R302S |
probably null |
Het |
| Or2t6 |
T |
A |
14: 14,175,725 (GRCm38) |
Y119F |
probably damaging |
Het |
| Or4c101 |
C |
G |
2: 88,389,985 (GRCm39) |
S57R |
probably damaging |
Het |
| Pdilt |
T |
A |
7: 119,087,217 (GRCm39) |
T478S |
probably damaging |
Het |
| Pias1 |
T |
C |
9: 62,827,769 (GRCm39) |
K222E |
probably damaging |
Het |
| Prss16 |
A |
C |
13: 22,193,613 (GRCm39) |
L61V |
possibly damaging |
Het |
| Pttg1ip2 |
C |
A |
5: 5,502,019 (GRCm39) |
W144C |
probably benign |
Het |
| Pvr |
G |
A |
7: 19,644,551 (GRCm39) |
Q328* |
probably null |
Het |
| Ranbp3 |
A |
G |
17: 57,017,865 (GRCm39) |
D481G |
possibly damaging |
Het |
| Rsf1 |
CGGCGGCGG |
CGGCGGCGGGGGCGGCGG |
7: 97,229,115 (GRCm39) |
|
probably benign |
Het |
| Ryr3 |
G |
T |
2: 112,508,435 (GRCm39) |
D3419E |
probably damaging |
Het |
| Scn1a |
C |
T |
2: 66,149,806 (GRCm39) |
W946* |
probably null |
Het |
| Sh3pxd2a |
T |
C |
19: 47,266,864 (GRCm39) |
K242E |
probably damaging |
Het |
| Slc34a2 |
A |
G |
5: 53,226,848 (GRCm39) |
D657G |
probably benign |
Het |
| Stard9 |
T |
A |
2: 120,532,533 (GRCm39) |
I2930K |
probably benign |
Het |
| Syna |
T |
C |
5: 134,588,112 (GRCm39) |
D279G |
probably benign |
Het |
| Tfr2 |
T |
C |
5: 137,577,292 (GRCm39) |
F415L |
probably benign |
Het |
| Tmem97 |
T |
A |
11: 78,433,586 (GRCm39) |
Y103F |
probably damaging |
Het |
| Tmem97 |
A |
T |
11: 78,433,587 (GRCm39) |
Y103N |
probably damaging |
Het |
| Txndc2 |
T |
A |
17: 65,945,310 (GRCm39) |
D289V |
probably damaging |
Het |
| Zbtb1 |
T |
G |
12: 76,433,206 (GRCm39) |
D397E |
probably benign |
Het |
| Zfp382 |
G |
A |
7: 29,833,144 (GRCm39) |
G265E |
probably damaging |
Het |
| Zfp410 |
T |
C |
12: 84,369,740 (GRCm39) |
L39S |
probably damaging |
Het |
| Zfp729a |
G |
T |
13: 67,767,440 (GRCm39) |
P930T |
probably benign |
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 |
|
|
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 |
|
|
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'- TTGCCCACAAGGAGATAAAGCTGAC -3'
(R):5'- AGTGCTCATCACAGACACACAGTG -3'
Sequencing Primer
(F):5'- AAAGCTCTGCACATGTCTGG -3'
(R):5'- CAGACACACAGTGGGGTTTTTAG -3'
|
| Posted On |
2014-04-13 |
Incidental Mutation