Incidental Mutation 'R5891:Tnrc18'
| ID |
502050 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tnrc18
|
| Ensembl Gene |
ENSMUSG00000039477 |
| Gene Name |
trinucleotide repeat containing 18 |
| Synonyms |
EG381742, Zfp469 |
| MMRRC Submission |
044092-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.787)
|
| Stock # |
R5891 (G1)
|
| Quality Score |
75 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
142710416-142803417 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 142800926 bp (GRCm39)
|
| Zygosity |
Homozygous |
| Amino Acid Change |
Serine to Proline
at position 11
(S11P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000114769
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000151477]
[ENSMUST00000198181]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000151477
AA Change: S11P
PolyPhen 2
Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000114769
Gene: ENSMUSG00000039477
AA Change: S11P
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
38 |
50 |
N/A |
INTRINSIC |
|
low complexity region
|
83 |
98 |
N/A |
INTRINSIC |
|
low complexity region
|
240 |
287 |
N/A |
INTRINSIC |
|
low complexity region
|
369 |
390 |
N/A |
INTRINSIC |
|
low complexity region
|
457 |
475 |
N/A |
INTRINSIC |
|
low complexity region
|
623 |
634 |
N/A |
INTRINSIC |
|
coiled coil region
|
843 |
876 |
N/A |
INTRINSIC |
|
low complexity region
|
916 |
930 |
N/A |
INTRINSIC |
|
low complexity region
|
951 |
970 |
N/A |
INTRINSIC |
|
low complexity region
|
980 |
993 |
N/A |
INTRINSIC |
|
low complexity region
|
1093 |
1112 |
N/A |
INTRINSIC |
|
low complexity region
|
1269 |
1289 |
N/A |
INTRINSIC |
|
coiled coil region
|
1411 |
1443 |
N/A |
INTRINSIC |
|
low complexity region
|
1477 |
1493 |
N/A |
INTRINSIC |
|
low complexity region
|
1581 |
1593 |
N/A |
INTRINSIC |
|
low complexity region
|
1608 |
1619 |
N/A |
INTRINSIC |
|
low complexity region
|
1735 |
1752 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000198181
AA Change: S11P
PolyPhen 2
Score 0.958 (Sensitivity: 0.78; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000143178
Gene: ENSMUSG00000039477
AA Change: S11P
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
38 |
50 |
N/A |
INTRINSIC |
|
| Meta Mutation Damage Score |
0.0715 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.5%
- 10x: 97.7%
- 20x: 92.9%
|
| Validation Efficiency |
96% (85/89) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 80 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abi3bp |
A |
T |
16: 56,426,496 (GRCm39) |
T504S |
probably damaging |
Het |
| Adamtsl4 |
C |
A |
3: 95,589,623 (GRCm39) |
R387L |
possibly damaging |
Het |
| Adgb |
G |
A |
10: 10,253,591 (GRCm39) |
Q1224* |
probably null |
Het |
| Ankrd40 |
T |
A |
11: 94,225,689 (GRCm39) |
F240Y |
probably damaging |
Het |
| Asnsd1 |
A |
T |
1: 53,387,136 (GRCm39) |
Y164N |
probably benign |
Het |
| Atf7ip |
A |
T |
6: 136,536,975 (GRCm39) |
E69D |
possibly damaging |
Het |
| Atm |
T |
C |
9: 53,408,459 (GRCm39) |
T1129A |
probably benign |
Het |
| Atosa |
C |
G |
9: 74,911,668 (GRCm39) |
C46W |
probably damaging |
Het |
| AU021092 |
T |
C |
16: 5,029,995 (GRCm39) |
D340G |
probably benign |
Het |
| Baz2a |
T |
A |
10: 127,957,191 (GRCm39) |
I978N |
probably damaging |
Het |
| BC034090 |
T |
C |
1: 155,108,793 (GRCm39) |
|
probably benign |
Het |
| Bcl9 |
A |
G |
3: 97,116,204 (GRCm39) |
L830P |
probably damaging |
Het |
| Bicral |
T |
C |
17: 47,112,155 (GRCm39) |
N1015S |
probably benign |
Het |
| Ccdc9b |
T |
A |
2: 118,591,864 (GRCm39) |
D92V |
probably damaging |
Het |
| Ceacam3 |
C |
A |
7: 16,885,718 (GRCm39) |
T107N |
probably damaging |
Het |
| Cep83 |
T |
C |
10: 94,561,537 (GRCm39) |
V109A |
probably benign |
Het |
| Ces1e |
A |
G |
8: 93,929,894 (GRCm39) |
V463A |
possibly damaging |
Het |
| Ciao1 |
A |
G |
2: 127,089,054 (GRCm39) |
V55A |
probably benign |
Het |
| Col19a1 |
T |
C |
1: 24,328,806 (GRCm39) |
E900G |
probably damaging |
Het |
| Commd3 |
A |
G |
2: 18,678,626 (GRCm39) |
|
probably benign |
Het |
| Coro1c |
A |
G |
5: 113,988,872 (GRCm39) |
I157T |
probably damaging |
Het |
| Cplane1 |
A |
G |
15: 8,218,073 (GRCm39) |
I828V |
probably benign |
Het |
| Ctso |
T |
A |
3: 81,861,561 (GRCm39) |
F311L |
probably benign |
Het |
| Cxcl10 |
A |
G |
5: 92,496,083 (GRCm39) |
|
probably benign |
Het |
| Daam1 |
C |
A |
12: 71,990,923 (GRCm39) |
T179N |
unknown |
Het |
| Ddx24 |
T |
C |
12: 103,390,317 (GRCm39) |
K225E |
probably damaging |
Het |
| Dnajc16 |
T |
C |
4: 141,502,703 (GRCm39) |
T278A |
probably benign |
Het |
| Dnajc2 |
A |
T |
5: 21,966,709 (GRCm39) |
N345K |
possibly damaging |
Het |
| Dnpep |
G |
T |
1: 75,288,456 (GRCm39) |
Q395K |
probably benign |
Het |
| Dync1h1 |
T |
C |
12: 110,580,654 (GRCm39) |
|
probably null |
Het |
| Exoc1 |
A |
G |
5: 76,689,991 (GRCm39) |
D177G |
probably damaging |
Het |
| Fam135b |
C |
T |
15: 71,397,652 (GRCm39) |
R136H |
probably damaging |
Het |
| Filip1 |
T |
G |
9: 79,727,142 (GRCm39) |
L492F |
possibly damaging |
Het |
| Flvcr2 |
A |
T |
12: 85,843,002 (GRCm39) |
I359F |
possibly damaging |
Het |
| Gmcl1 |
A |
G |
6: 86,684,425 (GRCm39) |
W366R |
probably damaging |
Het |
| Htt |
A |
G |
5: 35,028,167 (GRCm39) |
T1808A |
possibly damaging |
Het |
| Ighv5-4 |
C |
A |
12: 113,561,249 (GRCm39) |
R57L |
probably damaging |
Het |
| Il12rb2 |
A |
T |
6: 67,337,674 (GRCm39) |
I69N |
probably damaging |
Het |
| Irf5 |
A |
T |
6: 29,529,424 (GRCm39) |
|
probably benign |
Het |
| Kif13b |
T |
G |
14: 65,025,854 (GRCm39) |
|
probably null |
Het |
| Klkb1 |
T |
A |
8: 45,723,703 (GRCm39) |
T571S |
probably benign |
Het |
| Mapkbp1 |
G |
T |
2: 119,854,413 (GRCm39) |
E1337* |
probably null |
Het |
| Met |
A |
G |
6: 17,491,538 (GRCm39) |
D100G |
probably benign |
Het |
| Mgam |
T |
A |
6: 40,721,282 (GRCm39) |
D183E |
probably benign |
Het |
| Mrgprb13 |
T |
C |
7: 47,962,007 (GRCm39) |
|
noncoding transcript |
Het |
| Mrgprx2 |
T |
C |
7: 48,131,994 (GRCm39) |
T275A |
probably benign |
Het |
| Mroh2a |
C |
A |
1: 88,169,337 (GRCm39) |
Q671K |
possibly damaging |
Het |
| Nckipsd |
T |
A |
9: 108,685,808 (GRCm39) |
S42R |
probably damaging |
Het |
| Nlrp12 |
T |
A |
7: 3,267,933 (GRCm39) |
|
probably benign |
Het |
| Or12j2 |
C |
T |
7: 139,916,513 (GRCm39) |
T246I |
probably benign |
Het |
| Or12k8 |
T |
A |
2: 36,974,990 (GRCm39) |
M257L |
probably benign |
Het |
| Or4k47 |
A |
T |
2: 111,451,778 (GRCm39) |
L214M |
probably damaging |
Het |
| Or5p5 |
C |
T |
7: 107,414,387 (GRCm39) |
P199S |
probably damaging |
Het |
| Otoa |
T |
A |
7: 120,731,583 (GRCm39) |
|
probably null |
Het |
| Pfkm |
T |
A |
15: 98,020,571 (GRCm39) |
C233* |
probably null |
Het |
| Pikfyve |
A |
G |
1: 65,241,896 (GRCm39) |
Y212C |
probably damaging |
Het |
| Ptprq |
T |
A |
10: 107,412,756 (GRCm39) |
D1781V |
possibly damaging |
Het |
| Pttg1ip |
A |
G |
10: 77,418,274 (GRCm39) |
|
probably benign |
Het |
| Rab6a |
T |
A |
7: 100,288,454 (GRCm39) |
|
probably null |
Het |
| Rbm11 |
C |
T |
16: 75,395,725 (GRCm39) |
A132V |
possibly damaging |
Het |
| Septin4 |
G |
T |
11: 87,479,750 (GRCm39) |
|
probably benign |
Het |
| Serpinb8 |
A |
G |
1: 107,533,575 (GRCm39) |
E210G |
probably damaging |
Het |
| Sertad2 |
G |
A |
11: 20,597,884 (GRCm39) |
G27S |
probably benign |
Het |
| Slco5a1 |
A |
G |
1: 13,060,626 (GRCm39) |
F32L |
probably benign |
Het |
| Smad2 |
A |
G |
18: 76,433,046 (GRCm39) |
E326G |
probably damaging |
Het |
| Sp9 |
T |
A |
2: 73,104,595 (GRCm39) |
L383Q |
probably damaging |
Het |
| Stx11 |
T |
C |
10: 12,817,559 (GRCm39) |
N55S |
probably damaging |
Het |
| Tbc1d15 |
T |
A |
10: 115,056,213 (GRCm39) |
Q253L |
probably benign |
Het |
| Tcf7l1 |
T |
A |
6: 72,614,034 (GRCm39) |
|
probably benign |
Het |
| Tdrd9 |
T |
A |
12: 112,009,153 (GRCm39) |
S1020T |
probably damaging |
Het |
| Tead3 |
A |
T |
17: 28,560,339 (GRCm39) |
D88E |
probably damaging |
Het |
| Trpc3 |
G |
T |
3: 36,725,171 (GRCm39) |
D268E |
probably damaging |
Het |
| Ttn |
A |
G |
2: 76,576,085 (GRCm39) |
V23190A |
possibly damaging |
Het |
| Ubr4 |
T |
A |
4: 139,135,937 (GRCm39) |
Y908* |
probably null |
Het |
| Urb2 |
G |
T |
8: 124,757,595 (GRCm39) |
V1101L |
possibly damaging |
Het |
| Usp9y |
A |
T |
Y: 1,341,535 (GRCm39) |
D1375E |
probably benign |
Het |
| Zcchc7 |
T |
C |
4: 44,895,838 (GRCm39) |
L262P |
probably damaging |
Het |
| Zdhhc7 |
T |
A |
8: 120,811,639 (GRCm39) |
H188L |
probably benign |
Het |
| Zfp518a |
T |
A |
19: 40,900,877 (GRCm39) |
C269S |
probably damaging |
Het |
| Zfp933 |
T |
C |
4: 147,911,231 (GRCm39) |
K90E |
probably benign |
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 |
|
|
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 |
|
|
R8322:Tnrc18
|
UTSW |
5 |
142,711,767 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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'- TAATATCCCCATCAAAGCTGGAGGG -3'
(R):5'- AGATACCGTGTACGCCTCCTTC -3'
Sequencing Primer
(F):5'- AGGGTGGGTGCTAGCAC -3'
(R):5'- CCGTGGTTGAGCGCAAG -3'
|
| Posted On |
2018-02-26 |
Incidental Mutation