Incidental Mutation 'R9003:Zcchc11'
| ID |
685080 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Zcchc11
|
| Ensembl Gene |
ENSMUSG00000034610 |
| Gene Name |
zinc finger, CCHC domain containing 11 |
| Synonyms |
6030404K05Rik, 9230115F04Rik |
| MMRRC Submission |
068833-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R9003 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
4 |
| Chromosomal Location |
108459426-108559421 bp(+) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 108542832 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Glutamic Acid
at position 1277
(K1277E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000095538
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000043368]
[ENSMUST00000097925]
|
| AlphaFold |
B2RX14 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000043368
AA Change: K1277E
PolyPhen 2
Score 0.652 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000044836
Gene: ENSMUSG00000034610
AA Change: K1277E
| 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 damaging
Transcript: ENSMUST00000097925
AA Change: K1277E
PolyPhen 2
Score 0.977 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000095538
Gene: ENSMUSG00000034610
AA Change: K1277E
| 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 |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.3%
|
| Validation Efficiency |
100% (57/57) |
| 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: 57 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcb5 |
G |
A |
12: 118,886,278 (GRCm38) |
H917Y |
possibly damaging |
Het |
| Acot4 |
A |
G |
12: 84,043,195 (GRCm38) |
K222R |
possibly damaging |
Het |
| Akap12 |
A |
G |
10: 4,356,744 (GRCm38) |
S1290G |
probably benign |
Het |
| Apopt1 |
A |
G |
12: 111,721,755 (GRCm38) |
*45W |
probably null |
Het |
| Arid1a |
T |
C |
4: 133,684,488 (GRCm38) |
I1311V |
unknown |
Het |
| Asf1b |
G |
T |
8: 83,955,901 (GRCm38) |
E25* |
probably null |
Het |
| Atp10a |
T |
A |
7: 58,807,455 (GRCm38) |
W901R |
probably damaging |
Het |
| Aurkc |
T |
A |
7: 6,996,548 (GRCm38) |
I18N |
probably damaging |
Het |
| Carmil2 |
A |
G |
8: 105,697,273 (GRCm38) |
T1253A |
probably damaging |
Het |
| Ccdc146 |
T |
C |
5: 21,303,134 (GRCm38) |
T639A |
possibly damaging |
Het |
| Cdca4 |
A |
G |
12: 112,822,039 (GRCm38) |
V23A |
probably benign |
Het |
| Chpt1 |
A |
G |
10: 88,477,081 (GRCm38) |
F290L |
probably damaging |
Het |
| Clca3b |
C |
T |
3: 144,827,311 (GRCm38) |
W653* |
probably null |
Het |
| Cpb2 |
A |
T |
14: 75,242,428 (GRCm38) |
|
probably benign |
Het |
| Cul9 |
A |
G |
17: 46,525,075 (GRCm38) |
V1215A |
possibly damaging |
Het |
| Cxxc4 |
A |
T |
3: 134,239,670 (GRCm38) |
N4I |
unknown |
Het |
| Eps8l1 |
G |
T |
7: 4,461,017 (GRCm38) |
V47F |
possibly damaging |
Het |
| Exoc6 |
T |
C |
19: 37,598,649 (GRCm38) |
I537T |
probably damaging |
Het |
| Fbn2 |
T |
C |
18: 58,043,519 (GRCm38) |
Y2040C |
probably damaging |
Het |
| Gfm2 |
T |
G |
13: 97,146,381 (GRCm38) |
|
probably benign |
Het |
| Jak2 |
A |
T |
19: 29,276,840 (GRCm38) |
M187L |
probably benign |
Het |
| Kif5b |
A |
G |
18: 6,224,047 (GRCm38) |
V247A |
probably benign |
Het |
| Klhl22 |
T |
C |
16: 17,771,748 (GRCm38) |
V91A |
probably damaging |
Het |
| Ldhd |
T |
C |
8: 111,630,262 (GRCm38) |
S17G |
probably benign |
Het |
| Madd |
C |
A |
2: 91,158,014 (GRCm38) |
E1223* |
probably null |
Het |
| Mecom |
T |
C |
3: 29,980,490 (GRCm38) |
I346V |
probably benign |
Het |
| Mthfd1 |
C |
T |
12: 76,303,980 (GRCm38) |
T712M |
probably benign |
Het |
| Nek4 |
C |
T |
14: 30,982,514 (GRCm38) |
T662M |
probably benign |
Het |
| Olfr10 |
C |
T |
11: 49,318,328 (GRCm38) |
P261S |
possibly damaging |
Het |
| Olfr1222 |
T |
A |
2: 89,125,680 (GRCm38) |
Q17L |
possibly damaging |
Het |
| Olfr1290 |
A |
G |
2: 111,490,066 (GRCm38) |
F31L |
probably benign |
Het |
| Olfr1513 |
T |
A |
14: 52,349,311 (GRCm38) |
H245L |
probably damaging |
Het |
| Olfr201 |
A |
T |
16: 59,268,900 (GRCm38) |
F256I |
probably benign |
Het |
| Olfr896-ps1 |
C |
T |
9: 38,292,047 (GRCm38) |
T34I |
probably benign |
Het |
| Phc3 |
G |
A |
3: 30,965,858 (GRCm38) |
T19I |
possibly damaging |
Het |
| Pla2g4e |
T |
A |
2: 120,176,801 (GRCm38) |
Q472L |
probably benign |
Het |
| Plcg2 |
C |
T |
8: 117,615,263 (GRCm38) |
T1121I |
|
Het |
| Plin2 |
T |
C |
4: 86,662,087 (GRCm38) |
T146A |
probably benign |
Het |
| Pum1 |
T |
G |
4: 130,747,082 (GRCm38) |
S488A |
probably benign |
Het |
| Robo1 |
A |
G |
16: 72,742,114 (GRCm38) |
|
probably benign |
Het |
| Rsbn1 |
T |
C |
3: 103,914,872 (GRCm38) |
L102P |
probably damaging |
Het |
| Sbno2 |
A |
T |
10: 80,060,215 (GRCm38) |
V939E |
probably damaging |
Het |
| Scarf1 |
A |
T |
11: 75,515,243 (GRCm38) |
T118S |
possibly damaging |
Het |
| Sdcbp2 |
G |
A |
2: 151,587,193 (GRCm38) |
V171M |
probably benign |
Het |
| Sh3pxd2b |
T |
C |
11: 32,411,571 (GRCm38) |
I261T |
probably damaging |
Het |
| Slc4a9 |
A |
G |
18: 36,540,734 (GRCm38) |
|
probably null |
Het |
| Smpdl3a |
A |
G |
10: 57,807,881 (GRCm38) |
Y245C |
probably damaging |
Het |
| Stk39 |
T |
C |
2: 68,392,118 (GRCm38) |
I201V |
probably damaging |
Het |
| Timm44 |
A |
G |
8: 4,274,204 (GRCm38) |
L25P |
possibly damaging |
Het |
| Tinf2 |
T |
C |
14: 55,680,402 (GRCm38) |
H210R |
probably benign |
Het |
| Tmem168 |
A |
T |
6: 13,591,447 (GRCm38) |
Y457N |
probably benign |
Het |
| Topbp1 |
T |
C |
9: 103,323,528 (GRCm38) |
S587P |
probably benign |
Het |
| Tpp1 |
T |
A |
7: 105,748,949 (GRCm38) |
I336F |
probably benign |
Het |
| Ttc28 |
G |
A |
5: 111,277,030 (GRCm38) |
V1574I |
probably benign |
Het |
| Vmn2r52 |
A |
T |
7: 10,171,254 (GRCm38) |
D219E |
probably benign |
Het |
| Zbtb40 |
G |
T |
4: 137,018,593 (GRCm38) |
A43E |
probably damaging |
Het |
| Zfp970 |
G |
A |
2: 177,475,217 (GRCm38) |
A195T |
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 |
|
|
IGL02451:Zcchc11
|
APN |
4 |
108,529,276 (GRCm38) |
nonsense |
probably null |
|
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- TAGACTCCTGTTTGGCACACTC -3'
(R):5'- TGCAGAATGGGAAAATCTGCATC -3'
Sequencing Primer
(F):5'- GTTTGGCACACTCTACTTTATGG -3'
(R):5'- GGAAAATCTGCATCAGAGGTTTTGC -3'
|
| Posted On |
2021-10-11 |
Incidental Mutation