Incidental Mutation 'IGL00502:Tent4b'
| ID |
6215 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Tent4b
|
| Ensembl Gene |
ENSMUSG00000036779 |
| Gene Name |
terminal nucleotidyltransferase 4B |
| Synonyms |
5730445M16Rik, Papd5 |
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.904)
|
| Stock # |
IGL00502
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
8 |
| Chromosomal Location |
88925841-88986350 bp(+) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
C to T
at 88978886 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamine to Stop codon
at position 63
(Q63*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000120503
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000066748]
[ENSMUST00000118952]
[ENSMUST00000119033]
[ENSMUST00000154115]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably null
Transcript: ENSMUST00000066748
AA Change: Q453*
|
| SMART Domains |
Protein: ENSMUSP00000067971
Gene: ENSMUSG00000036779
AA Change: Q453*
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
21 |
47 |
N/A |
INTRINSIC |
|
low complexity region
|
83 |
117 |
N/A |
INTRINSIC |
|
low complexity region
|
148 |
162 |
N/A |
INTRINSIC |
|
Pfam:NTP_transf_2
|
206 |
315 |
1.6e-16 |
PFAM |
|
Pfam:PAP_assoc
|
326 |
386 |
2.4e-18 |
PFAM |
|
low complexity region
|
496 |
526 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000118952
AA Change: Q496*
|
| SMART Domains |
Protein: ENSMUSP00000112608
Gene: ENSMUSG00000036779
AA Change: Q496*
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
21 |
47 |
N/A |
INTRINSIC |
|
low complexity region
|
83 |
117 |
N/A |
INTRINSIC |
|
low complexity region
|
148 |
162 |
N/A |
INTRINSIC |
|
Pfam:NTP_transf_2
|
206 |
317 |
1.1e-16 |
PFAM |
|
Pfam:PAP_assoc
|
369 |
429 |
1.1e-17 |
PFAM |
|
low complexity region
|
539 |
569 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000119033
AA Change: Q496*
|
| SMART Domains |
Protein: ENSMUSP00000112766
Gene: ENSMUSG00000036779
AA Change: Q496*
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
21 |
47 |
N/A |
INTRINSIC |
|
low complexity region
|
83 |
117 |
N/A |
INTRINSIC |
|
low complexity region
|
148 |
162 |
N/A |
INTRINSIC |
|
Pfam:NTP_transf_2
|
206 |
318 |
4.6e-18 |
PFAM |
|
Pfam:PAP_assoc
|
369 |
429 |
4.8e-17 |
PFAM |
|
low complexity region
|
539 |
569 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000125043
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000154115
AA Change: Q63*
|
| SMART Domains |
Protein: ENSMUSP00000120503
Gene: ENSMUSG00000036779
AA Change: Q63*
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
74 |
92 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 36 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adamts20 |
A |
T |
15: 94,301,278 (GRCm39) |
I82N |
probably damaging |
Het |
| Ampd2 |
A |
T |
3: 107,984,712 (GRCm39) |
L422H |
probably damaging |
Het |
| Angptl2 |
T |
A |
2: 33,118,406 (GRCm39) |
V60E |
probably damaging |
Het |
| Ano3 |
G |
A |
2: 110,601,395 (GRCm39) |
|
probably benign |
Het |
| Arhgap40 |
A |
G |
2: 158,373,078 (GRCm39) |
D112G |
probably benign |
Het |
| Bcorl1 |
T |
G |
X: 47,494,919 (GRCm39) |
V1730G |
probably damaging |
Het |
| Btrc |
A |
T |
19: 45,515,704 (GRCm39) |
E553V |
probably damaging |
Het |
| Cacna1b |
A |
T |
2: 24,541,212 (GRCm39) |
Y1323* |
probably null |
Het |
| Ccdc146 |
A |
G |
5: 21,506,420 (GRCm39) |
C674R |
possibly damaging |
Het |
| Ccdc170 |
A |
G |
10: 4,496,836 (GRCm39) |
D458G |
probably damaging |
Het |
| Cfap57 |
T |
A |
4: 118,438,198 (GRCm39) |
M898L |
probably benign |
Het |
| Crybg1 |
C |
T |
10: 43,834,309 (GRCm39) |
V1961I |
probably damaging |
Het |
| Dsp |
T |
C |
13: 38,381,822 (GRCm39) |
S2257P |
probably damaging |
Het |
| Dytn |
A |
G |
1: 63,717,999 (GRCm39) |
V12A |
probably benign |
Het |
| Foxk2 |
A |
G |
11: 121,187,925 (GRCm39) |
|
probably benign |
Het |
| Galnt2l |
T |
C |
8: 125,054,837 (GRCm39) |
M204T |
probably damaging |
Het |
| Gfi1b |
G |
A |
2: 28,504,797 (GRCm39) |
Q70* |
probably null |
Het |
| Gsdmc |
T |
C |
15: 63,676,270 (GRCm39) |
T58A |
probably benign |
Het |
| Hikeshi |
G |
A |
7: 89,572,818 (GRCm39) |
T26I |
probably benign |
Het |
| Mpdz |
T |
C |
4: 81,287,960 (GRCm39) |
D433G |
probably damaging |
Het |
| Ndufb5 |
T |
A |
3: 32,799,048 (GRCm39) |
V55D |
probably damaging |
Het |
| Nostrin |
T |
C |
2: 69,014,336 (GRCm39) |
S431P |
probably benign |
Het |
| Pdcd1lg2 |
A |
T |
19: 29,423,462 (GRCm39) |
T169S |
possibly damaging |
Het |
| Plekha7 |
A |
T |
7: 115,734,419 (GRCm39) |
M1006K |
probably damaging |
Het |
| Rgs6 |
A |
T |
12: 83,098,097 (GRCm39) |
I94F |
probably benign |
Het |
| Rims2 |
A |
T |
15: 39,370,380 (GRCm39) |
D938V |
probably damaging |
Het |
| Slc4a8 |
A |
G |
15: 100,705,319 (GRCm39) |
T842A |
possibly damaging |
Het |
| Spata21 |
C |
A |
4: 140,838,675 (GRCm39) |
|
probably null |
Het |
| Stk32a |
C |
T |
18: 43,443,510 (GRCm39) |
T229I |
possibly damaging |
Het |
| Trim33 |
C |
T |
3: 103,237,498 (GRCm39) |
P185S |
probably benign |
Het |
| Tspoap1 |
A |
G |
11: 87,668,647 (GRCm39) |
|
probably null |
Het |
| Vcan |
A |
G |
13: 89,840,438 (GRCm39) |
V742A |
probably benign |
Het |
| Vrtn |
A |
T |
12: 84,695,837 (GRCm39) |
I196F |
probably benign |
Het |
| Wasf1 |
A |
T |
10: 40,796,293 (GRCm39) |
I8F |
probably damaging |
Het |
| Ythdc2 |
A |
G |
18: 44,980,879 (GRCm39) |
I491M |
probably damaging |
Het |
| Zfp292 |
T |
C |
4: 34,809,775 (GRCm39) |
T1095A |
possibly damaging |
Het |
|
| Other mutations in Tent4b |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
R0079:Tent4b
|
UTSW |
8 |
88,926,631 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R0158:Tent4b
|
UTSW |
8 |
88,977,371 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1175:Tent4b
|
UTSW |
8 |
88,978,635 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1351:Tent4b
|
UTSW |
8 |
88,927,002 (GRCm39) |
nonsense |
probably null |
|
|
R1381:Tent4b
|
UTSW |
8 |
88,969,937 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R1541:Tent4b
|
UTSW |
8 |
88,972,227 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1801:Tent4b
|
UTSW |
8 |
88,977,416 (GRCm39) |
missense |
probably benign |
0.25 |
|
R1994:Tent4b
|
UTSW |
8 |
88,973,112 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2013:Tent4b
|
UTSW |
8 |
88,972,223 (GRCm39) |
splice site |
probably null |
|
|
R2290:Tent4b
|
UTSW |
8 |
88,978,603 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3791:Tent4b
|
UTSW |
8 |
88,969,957 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3845:Tent4b
|
UTSW |
8 |
88,977,292 (GRCm39) |
missense |
possibly damaging |
0.60 |
|
R3886:Tent4b
|
UTSW |
8 |
88,927,043 (GRCm39) |
missense |
probably benign |
0.03 |
|
R5041:Tent4b
|
UTSW |
8 |
88,981,878 (GRCm39) |
small deletion |
probably benign |
|
|
R5253:Tent4b
|
UTSW |
8 |
88,926,651 (GRCm39) |
missense |
possibly damaging |
0.63 |
|
R6881:Tent4b
|
UTSW |
8 |
88,977,416 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R7792:Tent4b
|
UTSW |
8 |
88,979,182 (GRCm39) |
missense |
probably benign |
|
|
R7936:Tent4b
|
UTSW |
8 |
88,978,913 (GRCm39) |
missense |
probably null |
0.05 |
|
R8054:Tent4b
|
UTSW |
8 |
88,974,186 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8997:Tent4b
|
UTSW |
8 |
88,979,023 (GRCm39) |
missense |
probably benign |
0.12 |
|
R8998:Tent4b
|
UTSW |
8 |
88,977,350 (GRCm39) |
missense |
probably benign |
0.09 |
|
X0024:Tent4b
|
UTSW |
8 |
88,973,103 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2012-04-20 |
Incidental Mutation