Incidental Mutation 'R8750:Tut4'
| ID |
663754 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tut4
|
| Ensembl Gene |
ENSMUSG00000034610 |
| Gene Name |
terminal uridylyl transferase 4 |
| Synonyms |
9230115F04Rik, Tent3a, 6030404K05Rik, Zcchc11 |
| MMRRC Submission |
068593-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R8750 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
4 |
| Chromosomal Location |
108459426-108559421 bp(+) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to G
at 108550743 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Alanine to Glycine
at position 1403
(A1403G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000095538
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000043368]
[ENSMUST00000097925]
[ENSMUST00000128042]
|
| AlphaFold |
B2RX14 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000043368
AA Change: A1398G
PolyPhen 2
Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000044836
Gene: ENSMUSG00000034610
AA Change: A1398G
| 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: A1403G
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000095538
Gene: ENSMUSG00000034610
AA Change: A1403G
| 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 |
probably benign
Transcript: ENSMUST00000128042
|
| SMART Domains |
Protein: ENSMUSP00000116253
Gene: ENSMUSG00000034610
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
89 |
100 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.6%
|
| 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: 72 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam21 |
G |
A |
12: 81,560,473 (GRCm38) |
Q172* |
probably null |
Het |
| Ankib1 |
A |
G |
5: 3,702,890 (GRCm38) |
|
probably null |
Het |
| Avpr1b |
C |
T |
1: 131,599,936 (GRCm38) |
R66C |
probably damaging |
Het |
| Bbs7 |
A |
T |
3: 36,607,595 (GRCm38) |
C152S |
possibly damaging |
Het |
| Cacna1a |
C |
A |
8: 84,559,155 (GRCm38) |
R810S |
probably damaging |
Het |
| Ccdc17 |
G |
A |
4: 116,599,932 (GRCm38) |
A538T |
possibly damaging |
Het |
| Cd93 |
T |
C |
2: 148,443,160 (GRCm38) |
M89V |
probably benign |
Het |
| Clec11a |
G |
T |
7: 44,305,899 (GRCm38) |
D157E |
probably benign |
Het |
| Crtam |
A |
C |
9: 40,984,345 (GRCm38) |
D228E |
probably benign |
Het |
| Cyp2a4 |
A |
G |
7: 26,312,784 (GRCm38) |
I331V |
probably benign |
Het |
| Cysltr2 |
T |
C |
14: 73,029,638 (GRCm38) |
I211V |
probably benign |
Het |
| Dcaf13 |
T |
C |
15: 39,119,441 (GRCm38) |
S123P |
probably damaging |
Het |
| Dctn1 |
T |
G |
6: 83,183,126 (GRCm38) |
V116G |
possibly damaging |
Het |
| Dmrt3 |
G |
A |
19: 25,611,186 (GRCm38) |
A130T |
probably benign |
Het |
| Dnah1 |
A |
T |
14: 31,304,967 (GRCm38) |
L700Q |
probably benign |
Het |
| Dnajc1 |
T |
C |
2: 18,308,834 (GRCm38) |
T159A |
probably damaging |
Het |
| Dpyd |
C |
T |
3: 119,141,936 (GRCm38) |
S670L |
probably damaging |
Het |
| Dsg2 |
A |
T |
18: 20,575,012 (GRCm38) |
I57F |
possibly damaging |
Het |
| Dzip3 |
A |
C |
16: 48,980,975 (GRCm38) |
I62S |
probably damaging |
Het |
| Ern1 |
A |
T |
11: 106,421,950 (GRCm38) |
S202T |
probably damaging |
Het |
| Foxm1 |
T |
A |
6: 128,373,243 (GRCm38) |
C517* |
probably null |
Het |
| Galnt16 |
G |
A |
12: 80,598,105 (GRCm38) |
V501I |
probably benign |
Het |
| Gmip |
A |
T |
8: 69,820,484 (GRCm38) |
R840S |
probably benign |
Het |
| Gna14 |
A |
C |
19: 16,608,094 (GRCm38) |
I279L |
|
Het |
| Irak2 |
T |
C |
6: 113,686,822 (GRCm38) |
M444T |
probably benign |
Het |
| Itfg2 |
T |
C |
6: 128,412,792 (GRCm38) |
|
probably null |
Het |
| Kif5a |
T |
A |
10: 127,248,040 (GRCm38) |
H94L |
probably damaging |
Het |
| Kmt2e |
A |
G |
5: 23,493,217 (GRCm38) |
T636A |
probably benign |
Het |
| Krba1 |
T |
C |
6: 48,405,278 (GRCm38) |
S152P |
probably damaging |
Het |
| Mad1l1 |
T |
A |
5: 140,315,067 (GRCm38) |
M25L |
probably benign |
Het |
| Map7d1 |
T |
C |
4: 126,238,522 (GRCm38) |
N286D |
probably benign |
Het |
| Mfrp |
A |
G |
9: 44,103,505 (GRCm38) |
K280E |
probably benign |
Het |
| Mlh3 |
G |
T |
12: 85,261,714 (GRCm38) |
L1100I |
probably damaging |
Het |
| Mrgprx2 |
T |
C |
7: 48,482,030 (GRCm38) |
I347V |
probably benign |
Het |
| Mtnr1b |
A |
T |
9: 15,874,428 (GRCm38) |
C11* |
probably null |
Het |
| Mx1 |
T |
C |
16: 97,451,717 (GRCm38) |
E401G |
probably damaging |
Het |
| Mypn |
T |
C |
10: 63,167,257 (GRCm38) |
D367G |
probably benign |
Het |
| Nherf2 |
T |
C |
17: 24,642,259 (GRCm38) |
I176V |
probably damaging |
Het |
| Or52a33 |
T |
A |
7: 103,639,852 (GRCm38) |
D96V |
probably damaging |
Het |
| Or6c5b |
T |
C |
10: 129,409,780 (GRCm38) |
V138A |
probably benign |
Het |
| Or8s8 |
T |
G |
15: 98,457,048 (GRCm38) |
I246R |
probably damaging |
Het |
| Or9g19 |
T |
A |
2: 85,769,963 (GRCm38) |
L54H |
probably damaging |
Het |
| Plcb1 |
T |
G |
2: 135,335,449 (GRCm38) |
M567R |
probably damaging |
Het |
| Plekhd1 |
A |
T |
12: 80,706,087 (GRCm38) |
D109V |
probably damaging |
Het |
| Polr2e |
A |
G |
10: 80,039,590 (GRCm38) |
I17T |
probably benign |
Het |
| Pot1b |
T |
C |
17: 55,666,537 (GRCm38) |
D421G |
probably benign |
Het |
| Prkar1b |
A |
T |
5: 139,050,696 (GRCm38) |
W224R |
probably damaging |
Het |
| Psmd1 |
C |
A |
1: 86,088,863 (GRCm38) |
R490S |
probably damaging |
Het |
| Pwp2 |
A |
G |
10: 78,177,825 (GRCm38) |
W521R |
probably damaging |
Het |
| Rhpn2 |
C |
A |
7: 35,376,255 (GRCm38) |
Q286K |
probably benign |
Het |
| Rnf103 |
T |
A |
6: 71,509,618 (GRCm38) |
M411K |
probably benign |
Het |
| Scpep1 |
A |
C |
11: 88,944,472 (GRCm38) |
V125G |
probably damaging |
Het |
| Serpinb9c |
C |
T |
13: 33,151,810 (GRCm38) |
V248M |
probably null |
Het |
| Snx15 |
T |
A |
19: 6,120,563 (GRCm38) |
N282I |
probably benign |
Het |
| Spaca3 |
A |
T |
11: 80,867,688 (GRCm38) |
D159V |
probably benign |
Het |
| Srrm4 |
A |
G |
5: 116,467,508 (GRCm38) |
V230A |
unknown |
Het |
| Ssu2 |
T |
A |
6: 112,382,351 (GRCm38) |
I103F |
possibly damaging |
Het |
| Strip2 |
T |
A |
6: 29,931,816 (GRCm38) |
F453I |
probably damaging |
Het |
| Tac2 |
C |
T |
10: 127,728,450 (GRCm38) |
P72L |
possibly damaging |
Het |
| Tiparp |
T |
G |
3: 65,552,704 (GRCm38) |
S473R |
probably damaging |
Het |
| Tmem135 |
C |
T |
7: 89,307,248 (GRCm38) |
R53Q |
probably damaging |
Het |
| Tmem200b |
T |
A |
4: 131,922,095 (GRCm38) |
F109I |
probably damaging |
Het |
| Tmem245 |
A |
T |
4: 56,886,141 (GRCm38) |
I825N |
probably damaging |
Het |
| Tmem63c |
G |
T |
12: 87,056,532 (GRCm38) |
V27F |
probably damaging |
Het |
| Tshz1 |
T |
C |
18: 84,015,037 (GRCm38) |
I415M |
probably damaging |
Het |
| Wfdc2 |
T |
A |
2: 164,565,898 (GRCm38) |
N162K |
probably damaging |
Het |
| Zeb2 |
T |
A |
2: 44,997,927 (GRCm38) |
I373F |
probably damaging |
Het |
| Zfp27 |
T |
C |
7: 29,895,379 (GRCm38) |
N387S |
possibly damaging |
Het |
| Zfp760 |
A |
T |
17: 21,722,375 (GRCm38) |
H177L |
possibly damaging |
Het |
| Zg16 |
A |
G |
7: 127,050,346 (GRCm38) |
S148P |
possibly damaging |
Het |
| Zic2 |
A |
G |
14: 122,476,717 (GRCm38) |
N348D |
probably benign |
Het |
| Zswim4 |
A |
T |
8: 84,212,684 (GRCm38) |
D856E |
possibly damaging |
Het |
|
| Other mutations in Tut4 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00504:Tut4
|
APN |
4 |
108,550,728 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL00684:Tut4
|
APN |
4 |
108,479,466 (GRCm38) |
missense |
possibly damaging |
0.80 |
|
IGL01598:Tut4
|
APN |
4 |
108,550,820 (GRCm38) |
unclassified |
probably benign |
|
|
IGL01599:Tut4
|
APN |
4 |
108,513,399 (GRCm38) |
missense |
possibly damaging |
0.85 |
|
IGL02088:Tut4
|
APN |
4 |
108,512,218 (GRCm38) |
splice site |
probably benign |
|
|
IGL02451:Tut4
|
APN |
4 |
108,529,276 (GRCm38) |
nonsense |
probably null |
|
|
IGL02667:Tut4
|
APN |
4 |
108,558,708 (GRCm38) |
splice site |
probably benign |
|
|
IGL03080:Tut4
|
APN |
4 |
108,505,824 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL03374:Tut4
|
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:Tut4
|
UTSW |
4 |
108,550,815 (GRCm38) |
critical splice donor site |
probably null |
|
|
IGL02799:Tut4
|
UTSW |
4 |
108,513,528 (GRCm38) |
missense |
probably benign |
|
|
R0013:Tut4
|
UTSW |
4 |
108,530,955 (GRCm38) |
splice site |
probably benign |
|
|
R0013:Tut4
|
UTSW |
4 |
108,530,955 (GRCm38) |
splice site |
probably benign |
|
|
R0051:Tut4
|
UTSW |
4 |
108,527,004 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0051:Tut4
|
UTSW |
4 |
108,527,004 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0410:Tut4
|
UTSW |
4 |
108,486,555 (GRCm38) |
missense |
probably benign |
0.27 |
|
R0698:Tut4
|
UTSW |
4 |
108,555,533 (GRCm38) |
missense |
probably benign |
0.22 |
|
R0745:Tut4
|
UTSW |
4 |
108,502,955 (GRCm38) |
splice site |
probably benign |
|
|
R1080:Tut4
|
UTSW |
4 |
108,479,499 (GRCm38) |
missense |
possibly damaging |
0.82 |
|
R1774:Tut4
|
UTSW |
4 |
108,507,955 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1809:Tut4
|
UTSW |
4 |
108,549,355 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1869:Tut4
|
UTSW |
4 |
108,529,300 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1874:Tut4
|
UTSW |
4 |
108,550,725 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1958:Tut4
|
UTSW |
4 |
108,555,706 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1976:Tut4
|
UTSW |
4 |
108,479,523 (GRCm38) |
missense |
probably benign |
0.01 |
|
R2034:Tut4
|
UTSW |
4 |
108,512,195 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2164:Tut4
|
UTSW |
4 |
108,503,029 (GRCm38) |
missense |
possibly damaging |
0.73 |
|
R2251:Tut4
|
UTSW |
4 |
108,520,208 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R3001:Tut4
|
UTSW |
4 |
108,512,928 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R3002:Tut4
|
UTSW |
4 |
108,512,928 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R3003:Tut4
|
UTSW |
4 |
108,512,928 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4170:Tut4
|
UTSW |
4 |
108,548,059 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4667:Tut4
|
UTSW |
4 |
108,495,159 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4868:Tut4
|
UTSW |
4 |
108,549,220 (GRCm38) |
splice site |
probably benign |
|
|
R4989:Tut4
|
UTSW |
4 |
108,526,845 (GRCm38) |
unclassified |
probably benign |
|
|
R5014:Tut4
|
UTSW |
4 |
108,526,846 (GRCm38) |
unclassified |
probably benign |
|
|
R5118:Tut4
|
UTSW |
4 |
108,520,292 (GRCm38) |
missense |
possibly damaging |
0.92 |
|
R5431:Tut4
|
UTSW |
4 |
108,491,412 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5645:Tut4
|
UTSW |
4 |
108,557,373 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5661:Tut4
|
UTSW |
4 |
108,513,187 (GRCm38) |
missense |
probably benign |
0.05 |
|
R5877:Tut4
|
UTSW |
4 |
108,512,923 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R6307:Tut4
|
UTSW |
4 |
108,555,620 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6326:Tut4
|
UTSW |
4 |
108,478,980 (GRCm38) |
missense |
probably benign |
0.02 |
|
R6407:Tut4
|
UTSW |
4 |
108,558,782 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6493:Tut4
|
UTSW |
4 |
108,526,805 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6587:Tut4
|
UTSW |
4 |
108,479,449 (GRCm38) |
missense |
probably benign |
|
|
R7215:Tut4
|
UTSW |
4 |
108,527,008 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7413:Tut4
|
UTSW |
4 |
108,549,336 (GRCm38) |
missense |
possibly damaging |
0.69 |
|
R7584:Tut4
|
UTSW |
4 |
108,479,346 (GRCm38) |
missense |
probably benign |
0.00 |
|
R7872:Tut4
|
UTSW |
4 |
108,517,518 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7970:Tut4
|
UTSW |
4 |
108,486,454 (GRCm38) |
missense |
probably benign |
0.00 |
|
R8214:Tut4
|
UTSW |
4 |
108,512,150 (GRCm38) |
missense |
probably benign |
0.00 |
|
R8297:Tut4
|
UTSW |
4 |
108,479,708 (GRCm38) |
missense |
possibly damaging |
0.86 |
|
R8504:Tut4
|
UTSW |
4 |
108,530,942 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8514:Tut4
|
UTSW |
4 |
108,557,357 (GRCm38) |
missense |
possibly damaging |
0.65 |
|
R8557:Tut4
|
UTSW |
4 |
108,542,711 (GRCm38) |
critical splice donor site |
probably null |
|
|
R8805:Tut4
|
UTSW |
4 |
108,549,378 (GRCm38) |
missense |
possibly damaging |
0.83 |
|
R8903:Tut4
|
UTSW |
4 |
108,479,211 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9003:Tut4
|
UTSW |
4 |
108,542,832 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R9218:Tut4
|
UTSW |
4 |
108,512,886 (GRCm38) |
nonsense |
probably null |
|
|
R9412:Tut4
|
UTSW |
4 |
108,557,364 (GRCm38) |
missense |
|
|
|
R9546:Tut4
|
UTSW |
4 |
108,513,232 (GRCm38) |
missense |
probably benign |
0.05 |
|
R9547:Tut4
|
UTSW |
4 |
108,513,232 (GRCm38) |
missense |
probably benign |
0.05 |
|
R9721:Tut4
|
UTSW |
4 |
108,555,581 (GRCm38) |
missense |
probably benign |
0.22 |
|
| Predicted Primers |
PCR Primer
(F):5'- GCTGTTACTTTCCTGCGCAG -3'
(R):5'- TGTCATCTTGGCAGAGTCTAAGAC -3'
Sequencing Primer
(F):5'- GATATAGTCTCATACTCTACCCAGTG -3'
(R):5'- ATGTGACAGCTGCTTCAAGC -3'
|
| Posted On |
2021-03-08 |
Incidental Mutation