Incidental Mutation 'R8322:Tnrc18'
| ID |
642004 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tnrc18
|
| Ensembl Gene |
ENSMUSG00000039477 |
| Gene Name |
trinucleotide repeat containing 18 |
| Synonyms |
EG381742, Zfp469 |
| MMRRC Submission |
067798-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.787)
|
| Stock # |
R8322 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
142710416-142803417 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 142711767 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Serine
at position 2664
(F2664S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000117651
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000058418]
[ENSMUST00000152247]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000058418
|
| SMART Domains |
Protein: ENSMUSP00000059896
Gene: ENSMUSG00000050822
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
67 |
89 |
N/A |
INTRINSIC |
|
transmembrane domain
|
104 |
126 |
N/A |
INTRINSIC |
|
transmembrane domain
|
138 |
160 |
N/A |
INTRINSIC |
|
Pfam:Nucleoside_tran
|
170 |
501 |
2e-51 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000152247
AA Change: F2664S
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000117651
Gene: ENSMUSG00000039477
AA Change: F2664S
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
57 |
104 |
N/A |
INTRINSIC |
|
low complexity region
|
186 |
207 |
N/A |
INTRINSIC |
|
low complexity region
|
274 |
292 |
N/A |
INTRINSIC |
|
low complexity region
|
440 |
451 |
N/A |
INTRINSIC |
|
coiled coil region
|
660 |
693 |
N/A |
INTRINSIC |
|
low complexity region
|
733 |
747 |
N/A |
INTRINSIC |
|
low complexity region
|
768 |
787 |
N/A |
INTRINSIC |
|
low complexity region
|
797 |
810 |
N/A |
INTRINSIC |
|
low complexity region
|
910 |
929 |
N/A |
INTRINSIC |
|
low complexity region
|
1086 |
1106 |
N/A |
INTRINSIC |
|
coiled coil region
|
1228 |
1260 |
N/A |
INTRINSIC |
|
low complexity region
|
1294 |
1310 |
N/A |
INTRINSIC |
|
low complexity region
|
1398 |
1410 |
N/A |
INTRINSIC |
|
low complexity region
|
1425 |
1436 |
N/A |
INTRINSIC |
|
coiled coil region
|
1570 |
1592 |
N/A |
INTRINSIC |
|
low complexity region
|
1606 |
1618 |
N/A |
INTRINSIC |
|
low complexity region
|
1622 |
1640 |
N/A |
INTRINSIC |
|
low complexity region
|
1641 |
1653 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.1%
|
| Validation Efficiency |
100% (64/64) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 64 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700030K09Rik |
A |
G |
8: 73,199,219 (GRCm39) |
S209G |
probably benign |
Het |
| Aars1 |
T |
C |
8: 111,772,160 (GRCm39) |
L450P |
possibly damaging |
Het |
| Acsbg1 |
G |
A |
9: 54,523,268 (GRCm39) |
T453M |
probably benign |
Het |
| Aff3 |
A |
G |
1: 38,220,742 (GRCm39) |
S1100P |
possibly damaging |
Het |
| B4galt5 |
G |
A |
2: 167,190,849 (GRCm39) |
A35V |
probably benign |
Het |
| C1qtnf1 |
T |
C |
11: 118,338,683 (GRCm39) |
S118P |
probably benign |
Het |
| Ceacam20 |
A |
T |
7: 19,705,628 (GRCm39) |
E206D |
probably damaging |
Het |
| Celsr3 |
T |
C |
9: 108,725,993 (GRCm39) |
L3066P |
probably damaging |
Het |
| Cers3 |
T |
G |
7: 66,439,386 (GRCm39) |
L299R |
probably damaging |
Het |
| Cfhr2 |
G |
T |
1: 139,738,696 (GRCm39) |
H288Q |
probably benign |
Het |
| Cnot1 |
A |
T |
8: 96,496,472 (GRCm39) |
M278K |
probably benign |
Het |
| Cnot10 |
T |
C |
9: 114,456,537 (GRCm39) |
E166G |
probably damaging |
Het |
| Ctsd |
T |
A |
7: 141,939,197 (GRCm39) |
D76V |
probably damaging |
Het |
| Cyp1a1 |
T |
A |
9: 57,610,003 (GRCm39) |
F472L |
probably damaging |
Het |
| Dusp19 |
T |
A |
2: 80,454,635 (GRCm39) |
D118E |
probably damaging |
Het |
| Dusp29 |
A |
T |
14: 21,752,950 (GRCm39) |
D65E |
probably damaging |
Het |
| Eif2ak3 |
C |
A |
6: 70,855,903 (GRCm39) |
R236S |
probably damaging |
Het |
| Fam169a |
A |
G |
13: 97,259,260 (GRCm39) |
T439A |
probably benign |
Het |
| Flg |
T |
C |
3: 93,191,639 (GRCm39) |
Y11H |
unknown |
Het |
| Fn1 |
T |
A |
1: 71,667,618 (GRCm39) |
I792L |
probably benign |
Het |
| Fzd7 |
T |
C |
1: 59,522,242 (GRCm39) |
S42P |
probably benign |
Het |
| Gimap3 |
A |
G |
6: 48,742,370 (GRCm39) |
S187P |
possibly damaging |
Het |
| Gli1 |
C |
A |
10: 127,167,477 (GRCm39) |
R592L |
probably damaging |
Het |
| Glt8d2 |
A |
T |
10: 82,498,037 (GRCm39) |
I124N |
probably damaging |
Het |
| Hbp1 |
C |
T |
12: 31,983,387 (GRCm39) |
D356N |
probably damaging |
Het |
| Hif1a |
T |
C |
12: 73,986,373 (GRCm39) |
S367P |
probably benign |
Het |
| Hspg2 |
C |
G |
4: 137,246,290 (GRCm39) |
P1023A |
possibly damaging |
Het |
| Itpr1 |
C |
A |
6: 108,365,190 (GRCm39) |
N880K |
probably benign |
Het |
| Kank1 |
T |
C |
19: 25,355,842 (GRCm39) |
|
probably benign |
Het |
| Kat2a |
T |
C |
11: 100,603,116 (GRCm39) |
T39A |
unknown |
Het |
| Kcnk2 |
T |
A |
1: 189,072,046 (GRCm39) |
Q98L |
probably benign |
Het |
| Kcnn4 |
G |
A |
7: 24,083,545 (GRCm39) |
G409S |
probably benign |
Het |
| Klrb1 |
T |
A |
6: 128,690,576 (GRCm39) |
I49F |
probably damaging |
Het |
| Larp4 |
G |
A |
15: 99,908,237 (GRCm39) |
V573I |
probably benign |
Het |
| Lrpprc |
A |
G |
17: 85,047,496 (GRCm39) |
|
probably null |
Het |
| Mybl1 |
A |
G |
1: 9,746,506 (GRCm39) |
S385P |
probably damaging |
Het |
| Nup62 |
T |
C |
7: 44,478,440 (GRCm39) |
S152P |
possibly damaging |
Het |
| Obi1 |
A |
T |
14: 104,717,091 (GRCm39) |
D427E |
probably damaging |
Het |
| Or11a4 |
A |
G |
17: 37,536,241 (GRCm39) |
Y75C |
probably damaging |
Het |
| Pcdh12 |
G |
A |
18: 38,414,630 (GRCm39) |
Q832* |
probably null |
Het |
| Pcid2 |
A |
G |
8: 13,128,555 (GRCm39) |
I368T |
probably damaging |
Het |
| Pcnx4 |
T |
A |
12: 72,603,437 (GRCm39) |
F492I |
probably damaging |
Het |
| Pi4ka |
A |
G |
16: 17,175,437 (GRCm39) |
Y464H |
|
Het |
| Plekhg5 |
T |
G |
4: 152,189,201 (GRCm39) |
S260R |
possibly damaging |
Het |
| Prkdc |
T |
A |
16: 15,532,005 (GRCm39) |
|
probably benign |
Het |
| Prr14 |
A |
T |
7: 127,072,999 (GRCm39) |
E115D |
probably benign |
Het |
| Rab3gap2 |
A |
T |
1: 184,978,877 (GRCm39) |
N285Y |
probably benign |
Het |
| Rhot1 |
T |
A |
11: 80,148,386 (GRCm39) |
C609S |
possibly damaging |
Het |
| Rnf123 |
T |
C |
9: 107,945,706 (GRCm39) |
Q360R |
probably benign |
Het |
| Rrp12 |
T |
C |
19: 41,868,658 (GRCm39) |
T562A |
probably benign |
Het |
| Rundc1 |
G |
A |
11: 101,322,992 (GRCm39) |
G317D |
probably benign |
Het |
| Rusf1 |
C |
T |
7: 127,889,786 (GRCm39) |
R1H |
probably damaging |
Het |
| Slc14a1 |
A |
T |
18: 78,145,656 (GRCm39) |
I426N |
possibly damaging |
Het |
| Slc23a1 |
C |
T |
18: 35,755,588 (GRCm39) |
G436E |
probably damaging |
Het |
| Slc45a3 |
A |
G |
1: 131,905,523 (GRCm39) |
D182G |
probably damaging |
Het |
| Sos1 |
A |
T |
17: 80,715,728 (GRCm39) |
F1010I |
probably damaging |
Het |
| Tap1 |
A |
G |
17: 34,412,163 (GRCm39) |
E456G |
probably damaging |
Het |
| Tha1 |
A |
T |
11: 117,759,493 (GRCm39) |
V332E |
probably damaging |
Het |
| Tmem18 |
T |
A |
12: 30,638,517 (GRCm39) |
I93N |
probably damaging |
Het |
| Tpm3 |
T |
A |
3: 89,981,011 (GRCm39) |
|
probably benign |
Het |
| Ttc3 |
A |
G |
16: 94,255,351 (GRCm39) |
E1615G |
probably damaging |
Het |
| Ube3b |
A |
G |
5: 114,540,747 (GRCm39) |
T485A |
probably benign |
Het |
| Vmn2r92 |
A |
G |
17: 18,386,886 (GRCm39) |
Y75C |
probably damaging |
Het |
| Zfp169 |
T |
C |
13: 48,644,575 (GRCm39) |
D184G |
unknown |
Het |
|
| Other mutations in Tnrc18 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00568:Tnrc18
|
APN |
5 |
142,748,792 (GRCm39) |
missense |
unknown |
|
|
IGL01732:Tnrc18
|
APN |
5 |
142,757,816 (GRCm39) |
missense |
unknown |
|
|
IGL01796:Tnrc18
|
APN |
5 |
142,750,642 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
IGL01868:Tnrc18
|
APN |
5 |
142,757,567 (GRCm39) |
missense |
unknown |
|
|
IGL02010:Tnrc18
|
APN |
5 |
142,773,049 (GRCm39) |
missense |
unknown |
|
|
IGL02566:Tnrc18
|
APN |
5 |
142,758,068 (GRCm39) |
splice site |
probably benign |
|
|
IGL02688:Tnrc18
|
APN |
5 |
142,775,927 (GRCm39) |
missense |
probably damaging |
0.96 |
|
IGL03052:Tnrc18
|
UTSW |
5 |
142,760,974 (GRCm39) |
missense |
unknown |
|
|
R0129:Tnrc18
|
UTSW |
5 |
142,750,800 (GRCm39) |
splice site |
probably benign |
|
|
R0617:Tnrc18
|
UTSW |
5 |
142,762,494 (GRCm39) |
missense |
unknown |
|
|
R0894:Tnrc18
|
UTSW |
5 |
142,800,869 (GRCm39) |
missense |
probably benign |
0.37 |
|
R1056:Tnrc18
|
UTSW |
5 |
142,759,614 (GRCm39) |
nonsense |
probably null |
|
|
R1084:Tnrc18
|
UTSW |
5 |
142,750,522 (GRCm39) |
critical splice donor site |
probably null |
|
|
R1131:Tnrc18
|
UTSW |
5 |
142,772,963 (GRCm39) |
missense |
unknown |
|
|
R1411:Tnrc18
|
UTSW |
5 |
142,751,702 (GRCm39) |
missense |
unknown |
|
|
R1443:Tnrc18
|
UTSW |
5 |
142,757,288 (GRCm39) |
missense |
unknown |
|
|
R1681:Tnrc18
|
UTSW |
5 |
142,759,572 (GRCm39) |
missense |
unknown |
|
|
R1698:Tnrc18
|
UTSW |
5 |
142,774,458 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R1795:Tnrc18
|
UTSW |
5 |
142,800,869 (GRCm39) |
missense |
probably benign |
0.37 |
|
R1903:Tnrc18
|
UTSW |
5 |
142,800,895 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1930:Tnrc18
|
UTSW |
5 |
142,762,079 (GRCm39) |
missense |
unknown |
|
|
R1931:Tnrc18
|
UTSW |
5 |
142,762,079 (GRCm39) |
missense |
unknown |
|
|
R1941:Tnrc18
|
UTSW |
5 |
142,800,905 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2069:Tnrc18
|
UTSW |
5 |
142,751,842 (GRCm39) |
missense |
unknown |
|
|
R2074:Tnrc18
|
UTSW |
5 |
142,745,461 (GRCm39) |
splice site |
probably null |
|
|
R2089:Tnrc18
|
UTSW |
5 |
142,759,396 (GRCm39) |
missense |
unknown |
|
|
R2091:Tnrc18
|
UTSW |
5 |
142,759,396 (GRCm39) |
missense |
unknown |
|
|
R2091:Tnrc18
|
UTSW |
5 |
142,759,396 (GRCm39) |
missense |
unknown |
|
|
R2182:Tnrc18
|
UTSW |
5 |
142,745,816 (GRCm39) |
missense |
unknown |
|
|
R2190:Tnrc18
|
UTSW |
5 |
142,761,644 (GRCm39) |
missense |
unknown |
|
|
R2310:Tnrc18
|
UTSW |
5 |
142,774,308 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R2372:Tnrc18
|
UTSW |
5 |
142,745,459 (GRCm39) |
splice site |
probably benign |
|
|
R2445:Tnrc18
|
UTSW |
5 |
142,757,870 (GRCm39) |
missense |
unknown |
|
|
R3806:Tnrc18
|
UTSW |
5 |
142,773,029 (GRCm39) |
missense |
unknown |
|
|
R4097:Tnrc18
|
UTSW |
5 |
142,759,561 (GRCm39) |
small deletion |
probably benign |
|
|
R4153:Tnrc18
|
UTSW |
5 |
142,751,747 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R4274:Tnrc18
|
UTSW |
5 |
142,729,405 (GRCm39) |
missense |
unknown |
|
|
R4520:Tnrc18
|
UTSW |
5 |
142,717,905 (GRCm39) |
missense |
unknown |
|
|
R4627:Tnrc18
|
UTSW |
5 |
142,725,883 (GRCm39) |
missense |
unknown |
|
|
R4852:Tnrc18
|
UTSW |
5 |
142,717,095 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R4873:Tnrc18
|
UTSW |
5 |
142,750,932 (GRCm39) |
missense |
unknown |
|
|
R4875:Tnrc18
|
UTSW |
5 |
142,750,932 (GRCm39) |
missense |
unknown |
|
|
R4876:Tnrc18
|
UTSW |
5 |
142,717,380 (GRCm39) |
missense |
unknown |
|
|
R4936:Tnrc18
|
UTSW |
5 |
142,751,732 (GRCm39) |
nonsense |
probably null |
|
|
R4942:Tnrc18
|
UTSW |
5 |
142,773,737 (GRCm39) |
missense |
unknown |
|
|
R4962:Tnrc18
|
UTSW |
5 |
142,725,248 (GRCm39) |
missense |
unknown |
|
|
R5373:Tnrc18
|
UTSW |
5 |
142,725,911 (GRCm39) |
missense |
unknown |
|
|
R5374:Tnrc18
|
UTSW |
5 |
142,725,911 (GRCm39) |
missense |
unknown |
|
|
R5454:Tnrc18
|
UTSW |
5 |
142,757,446 (GRCm39) |
missense |
unknown |
|
|
R5678:Tnrc18
|
UTSW |
5 |
142,719,319 (GRCm39) |
missense |
unknown |
|
|
R5826:Tnrc18
|
UTSW |
5 |
142,759,502 (GRCm39) |
missense |
unknown |
|
|
R5891:Tnrc18
|
UTSW |
5 |
142,800,926 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6195:Tnrc18
|
UTSW |
5 |
142,750,928 (GRCm39) |
missense |
unknown |
|
|
R6296:Tnrc18
|
UTSW |
5 |
142,719,331 (GRCm39) |
missense |
unknown |
|
|
R6358:Tnrc18
|
UTSW |
5 |
142,713,736 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6452:Tnrc18
|
UTSW |
5 |
142,712,767 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6498:Tnrc18
|
UTSW |
5 |
142,717,923 (GRCm39) |
missense |
unknown |
|
|
R6711:Tnrc18
|
UTSW |
5 |
142,773,545 (GRCm39) |
missense |
unknown |
|
|
R6782:Tnrc18
|
UTSW |
5 |
142,773,063 (GRCm39) |
missense |
unknown |
|
|
R6863:Tnrc18
|
UTSW |
5 |
142,800,952 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6894:Tnrc18
|
UTSW |
5 |
142,745,804 (GRCm39) |
missense |
unknown |
|
|
R6970:Tnrc18
|
UTSW |
5 |
142,713,744 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7053:Tnrc18
|
UTSW |
5 |
142,772,984 (GRCm39) |
missense |
unknown |
|
|
R7135:Tnrc18
|
UTSW |
5 |
142,773,572 (GRCm39) |
missense |
|
|
|
R7756:Tnrc18
|
UTSW |
5 |
142,772,907 (GRCm39) |
missense |
|
|
|
R7902:Tnrc18
|
UTSW |
5 |
142,757,902 (GRCm39) |
missense |
|
|
|
R8039:Tnrc18
|
UTSW |
5 |
142,717,807 (GRCm39) |
missense |
unknown |
|
|
R8053:Tnrc18
|
UTSW |
5 |
142,736,385 (GRCm39) |
missense |
unknown |
|
|
R8379:Tnrc18
|
UTSW |
5 |
142,774,157 (GRCm39) |
missense |
|
|
|
R8745:Tnrc18
|
UTSW |
5 |
142,773,202 (GRCm39) |
missense |
|
|
|
R8837:Tnrc18
|
UTSW |
5 |
142,778,811 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R8894:Tnrc18
|
UTSW |
5 |
142,725,212 (GRCm39) |
missense |
unknown |
|
|
R8909:Tnrc18
|
UTSW |
5 |
142,762,131 (GRCm39) |
missense |
|
|
|
R9030:Tnrc18
|
UTSW |
5 |
142,711,818 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9186:Tnrc18
|
UTSW |
5 |
142,773,488 (GRCm39) |
missense |
|
|
|
R9189:Tnrc18
|
UTSW |
5 |
142,717,107 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9192:Tnrc18
|
UTSW |
5 |
142,773,602 (GRCm39) |
missense |
|
|
|
R9227:Tnrc18
|
UTSW |
5 |
142,773,392 (GRCm39) |
missense |
|
|
|
R9230:Tnrc18
|
UTSW |
5 |
142,773,392 (GRCm39) |
missense |
|
|
|
R9582:Tnrc18
|
UTSW |
5 |
142,757,128 (GRCm39) |
missense |
|
|
|
RF022:Tnrc18
|
UTSW |
5 |
142,759,385 (GRCm39) |
missense |
|
|
|
Z1177:Tnrc18
|
UTSW |
5 |
142,759,643 (GRCm39) |
missense |
|
|
|
| Predicted Primers |
PCR Primer
(F):5'- GTACACACTCACACTTGCCTGG -3'
(R):5'- TTAAGGCATCCCAGGGTCTC -3'
Sequencing Primer
(F):5'- CTGGGGCGTCCACCTGG -3'
(R):5'- TGATCCAGGAGGGTTCCC -3'
|
| Posted On |
2020-07-28 |
Incidental Mutation