Incidental Mutation 'IGL02451:Zcchc11'
| ID |
293644 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Zcchc11
|
| Ensembl Gene |
ENSMUSG00000034610 |
| Gene Name |
zinc finger, CCHC domain containing 11 |
| Synonyms |
6030404K05Rik, 9230115F04Rik |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL02451
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
4 |
| Chromosomal Location |
108459426-108559421 bp(+) (GRCm38) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
C to A
at 108529276 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Stop codon
at position 1114
(Y1114*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000095538
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000043368]
[ENSMUST00000097925]
[ENSMUST00000155068]
|
| AlphaFold |
B2RX14 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000043368
AA Change: Y1114*
|
| SMART Domains |
Protein: ENSMUSP00000044836
Gene: ENSMUSG00000034610
AA Change: Y1114*
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
260 |
275 |
N/A |
INTRINSIC |
|
SCOP:d1f5aa2
|
363 |
569 |
2e-23 |
SMART |
|
Pfam:PAP_assoc
|
648 |
701 |
1.2e-13 |
PFAM |
|
low complexity region
|
743 |
758 |
N/A |
INTRINSIC |
|
low complexity region
|
815 |
828 |
N/A |
INTRINSIC |
|
ZnF_C2HC
|
931 |
947 |
7.79e-3 |
SMART |
|
Pfam:NTP_transf_2
|
995 |
1085 |
4.2e-10 |
PFAM |
|
Pfam:PAP_assoc
|
1201 |
1254 |
4.7e-19 |
PFAM |
|
ZnF_C2HC
|
1311 |
1327 |
3.83e-3 |
SMART |
|
ZnF_C2HC
|
1359 |
1375 |
3.44e-4 |
SMART |
|
low complexity region
|
1398 |
1412 |
N/A |
INTRINSIC |
|
low complexity region
|
1418 |
1473 |
N/A |
INTRINSIC |
|
low complexity region
|
1628 |
1639 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000097925
AA Change: Y1114*
|
| SMART Domains |
Protein: ENSMUSP00000095538
Gene: ENSMUSG00000034610
AA Change: Y1114*
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
260 |
275 |
N/A |
INTRINSIC |
|
SCOP:d1f5aa2
|
363 |
569 |
2e-23 |
SMART |
|
Pfam:PAP_assoc
|
648 |
701 |
8e-14 |
PFAM |
|
low complexity region
|
743 |
758 |
N/A |
INTRINSIC |
|
low complexity region
|
815 |
828 |
N/A |
INTRINSIC |
|
ZnF_C2HC
|
931 |
947 |
7.79e-3 |
SMART |
|
Pfam:NTP_transf_2
|
994 |
1082 |
6.3e-11 |
PFAM |
|
Pfam:PAP_assoc
|
1201 |
1254 |
5.2e-19 |
PFAM |
|
ZnF_C2HC
|
1311 |
1327 |
3.83e-3 |
SMART |
|
ZnF_C2HC
|
1364 |
1380 |
3.44e-4 |
SMART |
|
low complexity region
|
1403 |
1417 |
N/A |
INTRINSIC |
|
low complexity region
|
1423 |
1478 |
N/A |
INTRINSIC |
|
low complexity region
|
1632 |
1643 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000138809
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000155068
|
| SMART Domains |
Protein: ENSMUSP00000120172
Gene: ENSMUSG00000034610
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
221 |
236 |
N/A |
INTRINSIC |
|
SCOP:d1f5aa2
|
324 |
530 |
2e-23 |
SMART |
|
Pfam:PAP_assoc
|
609 |
662 |
8.8e-15 |
PFAM |
|
low complexity region
|
704 |
719 |
N/A |
INTRINSIC |
|
low complexity region
|
776 |
789 |
N/A |
INTRINSIC |
|
ZnF_C2HC
|
892 |
908 |
7.79e-3 |
SMART |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] ZCCHC11 is an RNA uridyltransferase (EC 2.7.7.52) that uses UTP to add uridines to the 3-prime end of substrate RNA molecules (Jones et al., 2009 [PubMed 19701194]).[supplied by OMIM, Jan 2011]
PHENOTYPE: Mice homozygous for a gene trap allele exhibit partial postnatal lethality associated with postnatal growth retardation and reduced circulating insulin-like growth factor I levels. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 49 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700123K08Rik |
T |
G |
5: 138,563,547 (GRCm38) |
T126P |
probably damaging |
Het |
| Asic2 |
T |
C |
11: 80,891,737 (GRCm38) |
|
probably benign |
Het |
| B430305J03Rik |
A |
G |
3: 61,364,141 (GRCm38) |
|
probably benign |
Het |
| Bbs7 |
A |
G |
3: 36,610,592 (GRCm38) |
F47L |
possibly damaging |
Het |
| BC017158 |
A |
G |
7: 128,276,410 (GRCm38) |
L257P |
probably damaging |
Het |
| Bcl2l14 |
G |
T |
6: 134,423,841 (GRCm38) |
G75V |
probably benign |
Het |
| Btnl4 |
T |
C |
17: 34,475,927 (GRCm38) |
H4R |
probably benign |
Het |
| Champ1 |
C |
A |
8: 13,878,739 (GRCm38) |
P299Q |
probably damaging |
Het |
| Cldnd2 |
A |
G |
7: 43,441,658 (GRCm38) |
K5E |
probably benign |
Het |
| Ctr9 |
T |
A |
7: 111,043,424 (GRCm38) |
L401* |
probably null |
Het |
| Cyp2c29 |
G |
A |
19: 39,290,847 (GRCm38) |
G96D |
possibly damaging |
Het |
| Enpp4 |
A |
T |
17: 44,101,424 (GRCm38) |
L298H |
probably damaging |
Het |
| Git1 |
T |
C |
11: 77,500,687 (GRCm38) |
C222R |
possibly damaging |
Het |
| Gpam |
T |
C |
19: 55,088,203 (GRCm38) |
T189A |
probably damaging |
Het |
| Hgfac |
T |
G |
5: 35,043,814 (GRCm38) |
|
probably null |
Het |
| Hivep3 |
T |
A |
4: 120,133,965 (GRCm38) |
S2221T |
probably damaging |
Het |
| Ifi47 |
T |
C |
11: 49,095,777 (GRCm38) |
Y124H |
probably damaging |
Het |
| Il1a |
T |
C |
2: 129,306,655 (GRCm38) |
E45G |
probably damaging |
Het |
| Itga11 |
T |
A |
9: 62,735,353 (GRCm38) |
I186N |
probably damaging |
Het |
| Krt16 |
A |
T |
11: 100,246,336 (GRCm38) |
|
probably benign |
Het |
| Mapk13 |
A |
G |
17: 28,776,413 (GRCm38) |
T203A |
probably damaging |
Het |
| Mrpl37 |
T |
A |
4: 107,066,642 (GRCm38) |
I52F |
probably damaging |
Het |
| Nr1i2 |
A |
G |
16: 38,249,292 (GRCm38) |
F417L |
probably benign |
Het |
| Olfr1129 |
T |
A |
2: 87,575,232 (GRCm38) |
S49R |
probably benign |
Het |
| Olfr811 |
G |
A |
10: 129,801,833 (GRCm38) |
Q231* |
probably null |
Het |
| Osbpl1a |
T |
C |
18: 12,914,493 (GRCm38) |
|
probably benign |
Het |
| Parg |
C |
T |
14: 32,242,229 (GRCm38) |
T112M |
probably damaging |
Het |
| Pifo |
T |
A |
3: 106,014,504 (GRCm38) |
E34D |
probably benign |
Het |
| Pou6f1 |
T |
C |
15: 100,579,940 (GRCm38) |
T166A |
possibly damaging |
Het |
| Prtg |
A |
G |
9: 72,856,999 (GRCm38) |
I585V |
possibly damaging |
Het |
| Ptpru |
T |
G |
4: 131,776,775 (GRCm38) |
|
probably benign |
Het |
| Rab6a |
T |
C |
7: 100,636,763 (GRCm38) |
|
probably null |
Het |
| Rnf207 |
C |
T |
4: 152,312,412 (GRCm38) |
R425H |
probably benign |
Het |
| Skiv2l2 |
C |
T |
13: 112,891,347 (GRCm38) |
V660M |
probably damaging |
Het |
| Slc27a2 |
A |
G |
2: 126,578,992 (GRCm38) |
M468V |
probably benign |
Het |
| Slc30a1 |
A |
G |
1: 191,907,329 (GRCm38) |
H108R |
possibly damaging |
Het |
| Sned1 |
A |
G |
1: 93,236,208 (GRCm38) |
|
probably benign |
Het |
| Sptbn4 |
A |
T |
7: 27,365,589 (GRCm38) |
F2095Y |
probably null |
Het |
| Sspo |
A |
T |
6: 48,460,303 (GRCm38) |
|
probably benign |
Het |
| Tbx19 |
A |
G |
1: 165,140,171 (GRCm38) |
S336P |
probably benign |
Het |
| Tmem101 |
T |
A |
11: 102,153,293 (GRCm38) |
D256V |
probably damaging |
Het |
| Trbv20 |
T |
G |
6: 41,188,276 (GRCm38) |
L2V |
unknown |
Het |
| Trpc7 |
A |
G |
13: 56,822,461 (GRCm38) |
S382P |
probably damaging |
Het |
| Uhmk1 |
T |
C |
1: 170,212,526 (GRCm38) |
T91A |
possibly damaging |
Het |
| Vmn2r10 |
T |
A |
5: 108,995,922 (GRCm38) |
R721* |
probably null |
Het |
| Vmn2r94 |
T |
A |
17: 18,258,191 (GRCm38) |
Y98F |
possibly damaging |
Het |
| Zfp532 |
A |
G |
18: 65,623,601 (GRCm38) |
R202G |
probably damaging |
Het |
| Zfp827 |
T |
C |
8: 79,060,972 (GRCm38) |
S256P |
probably damaging |
Het |
| Zzef1 |
T |
C |
11: 72,901,388 (GRCm38) |
I2266T |
probably damaging |
Het |
|
| Other mutations in Zcchc11 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00504:Zcchc11
|
APN |
4 |
108,550,728 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL00684:Zcchc11
|
APN |
4 |
108,479,466 (GRCm38) |
missense |
possibly damaging |
0.80 |
|
IGL01598:Zcchc11
|
APN |
4 |
108,550,820 (GRCm38) |
unclassified |
probably benign |
|
|
IGL01599:Zcchc11
|
APN |
4 |
108,513,399 (GRCm38) |
missense |
possibly damaging |
0.85 |
|
IGL02088:Zcchc11
|
APN |
4 |
108,512,218 (GRCm38) |
splice site |
probably benign |
|
|
IGL02667:Zcchc11
|
APN |
4 |
108,558,708 (GRCm38) |
splice site |
probably benign |
|
|
IGL03080:Zcchc11
|
APN |
4 |
108,505,824 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL03374:Zcchc11
|
APN |
4 |
108,558,777 (GRCm38) |
missense |
probably damaging |
1.00 |
|
Flatter
|
UTSW |
4 |
108,542,711 (GRCm38) |
critical splice donor site |
probably null |
|
|
Ingratiate
|
UTSW |
4 |
108,512,195 (GRCm38) |
missense |
probably damaging |
1.00 |
|
oedipus
|
UTSW |
4 |
108,549,355 (GRCm38) |
missense |
probably damaging |
1.00 |
|
Please
|
UTSW |
4 |
108,512,886 (GRCm38) |
nonsense |
probably null |
|
|
H8786:Zcchc11
|
UTSW |
4 |
108,550,815 (GRCm38) |
critical splice donor site |
probably null |
|
|
IGL02799:Zcchc11
|
UTSW |
4 |
108,513,528 (GRCm38) |
missense |
probably benign |
|
|
R0013:Zcchc11
|
UTSW |
4 |
108,530,955 (GRCm38) |
splice site |
probably benign |
|
|
R0013:Zcchc11
|
UTSW |
4 |
108,530,955 (GRCm38) |
splice site |
probably benign |
|
|
R0051:Zcchc11
|
UTSW |
4 |
108,527,004 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0051:Zcchc11
|
UTSW |
4 |
108,527,004 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0410:Zcchc11
|
UTSW |
4 |
108,486,555 (GRCm38) |
missense |
probably benign |
0.27 |
|
R0698:Zcchc11
|
UTSW |
4 |
108,555,533 (GRCm38) |
missense |
probably benign |
0.22 |
|
R0745:Zcchc11
|
UTSW |
4 |
108,502,955 (GRCm38) |
splice site |
probably benign |
|
|
R1080:Zcchc11
|
UTSW |
4 |
108,479,499 (GRCm38) |
missense |
possibly damaging |
0.82 |
|
R1774:Zcchc11
|
UTSW |
4 |
108,507,955 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1809:Zcchc11
|
UTSW |
4 |
108,549,355 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1869:Zcchc11
|
UTSW |
4 |
108,529,300 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1874:Zcchc11
|
UTSW |
4 |
108,550,725 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1958:Zcchc11
|
UTSW |
4 |
108,555,706 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1976:Zcchc11
|
UTSW |
4 |
108,479,523 (GRCm38) |
missense |
probably benign |
0.01 |
|
R2034:Zcchc11
|
UTSW |
4 |
108,512,195 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2164:Zcchc11
|
UTSW |
4 |
108,503,029 (GRCm38) |
missense |
possibly damaging |
0.73 |
|
R2251:Zcchc11
|
UTSW |
4 |
108,520,208 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R3001:Zcchc11
|
UTSW |
4 |
108,512,928 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R3002:Zcchc11
|
UTSW |
4 |
108,512,928 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R3003:Zcchc11
|
UTSW |
4 |
108,512,928 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4170:Zcchc11
|
UTSW |
4 |
108,548,059 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4667:Zcchc11
|
UTSW |
4 |
108,495,159 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4868:Zcchc11
|
UTSW |
4 |
108,549,220 (GRCm38) |
splice site |
probably benign |
|
|
R4989:Zcchc11
|
UTSW |
4 |
108,526,845 (GRCm38) |
unclassified |
probably benign |
|
|
R5014:Zcchc11
|
UTSW |
4 |
108,526,846 (GRCm38) |
unclassified |
probably benign |
|
|
R5118:Zcchc11
|
UTSW |
4 |
108,520,292 (GRCm38) |
missense |
possibly damaging |
0.92 |
|
R5431:Zcchc11
|
UTSW |
4 |
108,491,412 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5645:Zcchc11
|
UTSW |
4 |
108,557,373 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5661:Zcchc11
|
UTSW |
4 |
108,513,187 (GRCm38) |
missense |
probably benign |
0.05 |
|
R5877:Zcchc11
|
UTSW |
4 |
108,512,923 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R6307:Zcchc11
|
UTSW |
4 |
108,555,620 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6326:Zcchc11
|
UTSW |
4 |
108,478,980 (GRCm38) |
missense |
probably benign |
0.02 |
|
R6407:Zcchc11
|
UTSW |
4 |
108,558,782 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6493:Zcchc11
|
UTSW |
4 |
108,526,805 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6587:Zcchc11
|
UTSW |
4 |
108,479,449 (GRCm38) |
missense |
probably benign |
|
|
R7215:Zcchc11
|
UTSW |
4 |
108,527,008 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7413:Zcchc11
|
UTSW |
4 |
108,549,336 (GRCm38) |
missense |
possibly damaging |
0.69 |
|
R7584:Zcchc11
|
UTSW |
4 |
108,479,346 (GRCm38) |
missense |
probably benign |
0.00 |
|
R7872:Zcchc11
|
UTSW |
4 |
108,517,518 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7970:Zcchc11
|
UTSW |
4 |
108,486,454 (GRCm38) |
missense |
probably benign |
0.00 |
|
R8214:Zcchc11
|
UTSW |
4 |
108,512,150 (GRCm38) |
missense |
probably benign |
0.00 |
|
R8297:Zcchc11
|
UTSW |
4 |
108,479,708 (GRCm38) |
missense |
possibly damaging |
0.86 |
|
R8504:Zcchc11
|
UTSW |
4 |
108,530,942 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8514:Zcchc11
|
UTSW |
4 |
108,557,357 (GRCm38) |
missense |
possibly damaging |
0.65 |
|
R8557:Zcchc11
|
UTSW |
4 |
108,542,711 (GRCm38) |
critical splice donor site |
probably null |
|
|
R8750:Zcchc11
|
UTSW |
4 |
108,550,743 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8805:Zcchc11
|
UTSW |
4 |
108,549,378 (GRCm38) |
missense |
possibly damaging |
0.83 |
|
R8903:Zcchc11
|
UTSW |
4 |
108,479,211 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9003:Zcchc11
|
UTSW |
4 |
108,542,832 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R9218:Zcchc11
|
UTSW |
4 |
108,512,886 (GRCm38) |
nonsense |
probably null |
|
|
R9412:Zcchc11
|
UTSW |
4 |
108,557,364 (GRCm38) |
missense |
|
|
|
R9546:Zcchc11
|
UTSW |
4 |
108,513,232 (GRCm38) |
missense |
probably benign |
0.05 |
|
R9547:Zcchc11
|
UTSW |
4 |
108,513,232 (GRCm38) |
missense |
probably benign |
0.05 |
|
R9721:Zcchc11
|
UTSW |
4 |
108,555,581 (GRCm38) |
missense |
probably benign |
0.22 |
|
| Posted On |
2015-04-16 |
Incidental Mutation