Incidental Mutation 'R4972:Ticrr'
| ID |
384520 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ticrr
|
| Ensembl Gene |
ENSMUSG00000046591 |
| Gene Name |
TOPBP1-interacting checkpoint and replication regulator |
| Synonyms |
5730590G19Rik |
| MMRRC Submission |
042567-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.949)
|
| Stock # |
R4972 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
79309944-79347896 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 79319416 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 467
(D467G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000041377
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000035977]
[ENSMUST00000206017]
[ENSMUST00000206591]
[ENSMUST00000206622]
|
| AlphaFold |
Q8BQ33 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000035977
AA Change: D467G
PolyPhen 2
Score 0.982 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000041377
Gene: ENSMUSG00000046591
AA Change: D467G
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
23 |
31 |
N/A |
INTRINSIC |
|
Pfam:Treslin_N
|
211 |
1005 |
N/A |
PFAM |
|
low complexity region
|
1186 |
1197 |
N/A |
INTRINSIC |
|
low complexity region
|
1220 |
1235 |
N/A |
INTRINSIC |
|
low complexity region
|
1339 |
1359 |
N/A |
INTRINSIC |
|
low complexity region
|
1472 |
1480 |
N/A |
INTRINSIC |
|
low complexity region
|
1496 |
1514 |
N/A |
INTRINSIC |
|
low complexity region
|
1630 |
1643 |
N/A |
INTRINSIC |
|
low complexity region
|
1694 |
1707 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000206017
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000206072
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000206591
AA Change: D467G
PolyPhen 2
Score 0.385 (Sensitivity: 0.90; Specificity: 0.89)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000206622
AA Change: D467G
PolyPhen 2
Score 0.329 (Sensitivity: 0.90; Specificity: 0.89)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000206677
|
| Meta Mutation Damage Score |
0.0690 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.2%
- 10x: 96.0%
- 20x: 91.2%
|
| Validation Efficiency |
93% (82/88) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Treslin is involved in the initiation of DNA replication (Kumagai et al., 2010 [PubMed 20116089]).[supplied by OMIM, Apr 2010]
PHENOTYPE: Mice homozygous for an ENU-induced allele are mostly hairless, with only a light patch of hair around the face and tail. [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 |
|---|
| 3425401B19Rik |
A |
T |
14: 32,383,361 (GRCm39) |
I868N |
possibly damaging |
Het |
| A730013G03Rik |
C |
G |
1: 192,516,081 (GRCm39) |
|
noncoding transcript |
Het |
| Actl11 |
A |
G |
9: 107,807,155 (GRCm39) |
T493A |
probably benign |
Het |
| Actn1 |
T |
C |
12: 80,219,813 (GRCm39) |
D686G |
probably benign |
Het |
| Adamts1 |
G |
A |
16: 85,592,833 (GRCm39) |
T525I |
probably damaging |
Het |
| Adcy10 |
T |
A |
1: 165,384,431 (GRCm39) |
L1064H |
probably damaging |
Het |
| AI661453 |
A |
T |
17: 47,777,324 (GRCm39) |
|
probably benign |
Het |
| Apba1 |
T |
A |
19: 23,889,900 (GRCm39) |
S433T |
probably benign |
Het |
| Arid4b |
T |
A |
13: 14,334,857 (GRCm39) |
N355K |
probably benign |
Het |
| Bsn |
A |
T |
9: 107,992,377 (GRCm39) |
M1125K |
probably damaging |
Het |
| C2cd5 |
A |
T |
6: 142,958,950 (GRCm39) |
M1003K |
probably damaging |
Het |
| Ccdc18 |
A |
G |
5: 108,339,869 (GRCm39) |
M805V |
probably benign |
Het |
| Cep89 |
T |
G |
7: 35,131,977 (GRCm39) |
L637R |
probably damaging |
Het |
| Col24a1 |
A |
T |
3: 145,215,439 (GRCm39) |
I1444F |
probably benign |
Het |
| Commd4 |
A |
T |
9: 57,062,732 (GRCm39) |
S175T |
probably benign |
Het |
| Coq7 |
A |
G |
7: 118,109,340 (GRCm39) |
V236A |
unknown |
Het |
| Dctn2 |
C |
T |
10: 127,112,572 (GRCm39) |
R176C |
probably damaging |
Het |
| Ddx31 |
T |
C |
2: 28,750,782 (GRCm39) |
F389L |
probably damaging |
Het |
| Dgkz |
C |
T |
2: 91,776,047 (GRCm39) |
R72H |
probably benign |
Het |
| Dpysl4 |
A |
G |
7: 138,670,206 (GRCm39) |
D24G |
probably damaging |
Het |
| Dydc1 |
A |
G |
14: 40,804,295 (GRCm39) |
T106A |
probably benign |
Het |
| F13b |
A |
G |
1: 139,438,661 (GRCm39) |
Y355C |
probably damaging |
Het |
| Fcrl5 |
A |
G |
3: 87,361,957 (GRCm39) |
M407V |
probably benign |
Het |
| Fzd5 |
C |
A |
1: 64,775,171 (GRCm39) |
V197L |
probably benign |
Het |
| Galnt16 |
G |
T |
12: 80,619,103 (GRCm39) |
E70* |
probably null |
Het |
| Gpr171 |
A |
T |
3: 59,005,386 (GRCm39) |
F130I |
probably damaging |
Het |
| Grin3a |
T |
C |
4: 49,770,484 (GRCm39) |
N763D |
probably damaging |
Het |
| Gsta2 |
A |
T |
9: 78,244,961 (GRCm39) |
M51K |
probably damaging |
Het |
| Gvin-ps3 |
T |
C |
7: 105,682,521 (GRCm39) |
|
noncoding transcript |
Het |
| Hacd3 |
A |
T |
9: 64,897,718 (GRCm39) |
I298N |
probably damaging |
Het |
| Il18r1 |
C |
T |
1: 40,530,224 (GRCm39) |
P317L |
probably benign |
Het |
| Iscu |
T |
A |
5: 113,915,037 (GRCm39) |
|
probably benign |
Het |
| Kif6 |
A |
G |
17: 50,014,647 (GRCm39) |
D250G |
probably damaging |
Het |
| Klk14 |
G |
A |
7: 43,341,501 (GRCm39) |
C51Y |
probably damaging |
Het |
| Lcn6 |
T |
A |
2: 25,570,079 (GRCm39) |
C82S |
probably damaging |
Het |
| Mob4 |
C |
G |
1: 55,190,161 (GRCm39) |
L135V |
possibly damaging |
Het |
| Mpzl3 |
T |
A |
9: 44,973,554 (GRCm39) |
|
probably benign |
Het |
| Mvp |
T |
C |
7: 126,588,970 (GRCm39) |
D599G |
probably damaging |
Het |
| Myo1a |
T |
C |
10: 127,552,178 (GRCm39) |
Y766H |
probably benign |
Het |
| Myo5b |
A |
G |
18: 74,760,264 (GRCm39) |
H260R |
probably damaging |
Het |
| Nbea |
C |
T |
3: 55,992,667 (GRCm39) |
R313H |
probably damaging |
Het |
| Necab1 |
T |
A |
4: 14,978,216 (GRCm39) |
D211V |
probably damaging |
Het |
| Nefl |
G |
T |
14: 68,324,212 (GRCm39) |
|
probably benign |
Het |
| Nfx1 |
T |
A |
4: 40,976,375 (GRCm39) |
D16E |
probably benign |
Het |
| Nlrp9a |
G |
T |
7: 26,269,964 (GRCm39) |
C797F |
probably damaging |
Het |
| Or4k36 |
T |
A |
2: 111,146,163 (GRCm39) |
V113E |
probably damaging |
Het |
| Or5p5 |
A |
G |
7: 107,413,953 (GRCm39) |
Q56R |
probably benign |
Het |
| Pde6b |
A |
G |
5: 108,573,130 (GRCm39) |
D500G |
probably benign |
Het |
| Pgs1 |
T |
C |
11: 117,896,719 (GRCm39) |
|
probably null |
Het |
| Polr3b |
T |
A |
10: 84,473,988 (GRCm39) |
I189N |
probably damaging |
Het |
| Ppwd1 |
A |
T |
13: 104,356,616 (GRCm39) |
S300T |
probably benign |
Het |
| Prl2c2 |
A |
C |
13: 13,176,755 (GRCm39) |
N55K |
possibly damaging |
Het |
| Prpf19 |
C |
T |
19: 10,876,709 (GRCm39) |
|
probably benign |
Het |
| Prph2 |
G |
T |
17: 47,221,733 (GRCm39) |
L37F |
possibly damaging |
Het |
| Ptprg |
G |
T |
14: 12,226,427 (GRCm38) |
R565L |
possibly damaging |
Het |
| Rab8a |
C |
T |
8: 72,925,119 (GRCm39) |
T74M |
probably damaging |
Het |
| Rexo1 |
A |
T |
10: 80,385,527 (GRCm39) |
F510L |
probably damaging |
Het |
| Rexo2 |
G |
T |
9: 48,390,689 (GRCm39) |
T51K |
probably damaging |
Het |
| Sh3d21 |
T |
C |
4: 126,046,209 (GRCm39) |
K147R |
possibly damaging |
Het |
| Skint6 |
A |
G |
4: 112,692,265 (GRCm39) |
I1062T |
probably benign |
Het |
| Spag16 |
C |
T |
1: 70,764,087 (GRCm39) |
R636W |
probably damaging |
Het |
| Spata16 |
T |
C |
3: 26,894,872 (GRCm39) |
I307T |
possibly damaging |
Het |
| Speer4f2 |
T |
G |
5: 17,579,423 (GRCm39) |
I74S |
probably benign |
Het |
| Svep1 |
T |
A |
4: 58,087,778 (GRCm39) |
Y1767F |
possibly damaging |
Het |
| Swt1 |
T |
C |
1: 151,299,293 (GRCm39) |
S7G |
probably benign |
Het |
| Tex9 |
A |
G |
9: 72,385,620 (GRCm39) |
|
probably null |
Het |
| Thsd7b |
C |
A |
1: 130,116,309 (GRCm39) |
P1354H |
probably damaging |
Het |
| Tmco5b |
A |
C |
2: 113,127,338 (GRCm39) |
D303A |
probably damaging |
Het |
| Trpm7 |
A |
G |
2: 126,665,978 (GRCm39) |
V876A |
probably damaging |
Het |
| Ttc21a |
G |
A |
9: 119,774,027 (GRCm39) |
E245K |
probably benign |
Het |
| Vezt |
C |
T |
10: 93,836,212 (GRCm39) |
|
probably null |
Het |
| Zscan20 |
G |
A |
4: 128,486,152 (GRCm39) |
P183S |
probably benign |
Het |
|
| Other mutations in Ticrr |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00087:Ticrr
|
APN |
7 |
79,327,031 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL00596:Ticrr
|
APN |
7 |
79,327,041 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01327:Ticrr
|
APN |
7 |
79,344,209 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL01525:Ticrr
|
APN |
7 |
79,332,197 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01565:Ticrr
|
APN |
7 |
79,344,296 (GRCm39) |
missense |
probably benign |
|
|
IGL01936:Ticrr
|
APN |
7 |
79,344,297 (GRCm39) |
missense |
probably benign |
0.11 |
|
IGL02160:Ticrr
|
APN |
7 |
79,343,767 (GRCm39) |
missense |
probably benign |
0.29 |
|
IGL02246:Ticrr
|
APN |
7 |
79,325,076 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02487:Ticrr
|
APN |
7 |
79,332,769 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
IGL02593:Ticrr
|
APN |
7 |
79,345,214 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02970:Ticrr
|
APN |
7 |
79,344,919 (GRCm39) |
missense |
probably benign |
0.01 |
|
FR4304:Ticrr
|
UTSW |
7 |
79,344,059 (GRCm39) |
intron |
probably benign |
|
|
PIT4305001:Ticrr
|
UTSW |
7 |
79,328,771 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
PIT4791001:Ticrr
|
UTSW |
7 |
79,319,386 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R0016:Ticrr
|
UTSW |
7 |
79,343,540 (GRCm39) |
missense |
probably benign |
0.01 |
|
R0062:Ticrr
|
UTSW |
7 |
79,317,654 (GRCm39) |
missense |
probably benign |
0.01 |
|
R0062:Ticrr
|
UTSW |
7 |
79,317,654 (GRCm39) |
missense |
probably benign |
0.01 |
|
R0067:Ticrr
|
UTSW |
7 |
79,327,158 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0067:Ticrr
|
UTSW |
7 |
79,327,158 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0362:Ticrr
|
UTSW |
7 |
79,327,088 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0482:Ticrr
|
UTSW |
7 |
79,344,236 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0595:Ticrr
|
UTSW |
7 |
79,345,311 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R1118:Ticrr
|
UTSW |
7 |
79,343,701 (GRCm39) |
missense |
probably benign |
0.23 |
|
R1119:Ticrr
|
UTSW |
7 |
79,343,701 (GRCm39) |
missense |
probably benign |
0.23 |
|
R1572:Ticrr
|
UTSW |
7 |
79,331,572 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1658:Ticrr
|
UTSW |
7 |
79,345,297 (GRCm39) |
missense |
possibly damaging |
0.57 |
|
R1757:Ticrr
|
UTSW |
7 |
79,328,794 (GRCm39) |
nonsense |
probably null |
|
|
R1757:Ticrr
|
UTSW |
7 |
79,325,071 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1862:Ticrr
|
UTSW |
7 |
79,344,955 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1869:Ticrr
|
UTSW |
7 |
79,328,883 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1938:Ticrr
|
UTSW |
7 |
79,325,142 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R1966:Ticrr
|
UTSW |
7 |
79,344,483 (GRCm39) |
nonsense |
probably null |
|
|
R2006:Ticrr
|
UTSW |
7 |
79,343,821 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R2178:Ticrr
|
UTSW |
7 |
79,315,433 (GRCm39) |
missense |
probably benign |
0.12 |
|
R3404:Ticrr
|
UTSW |
7 |
79,344,539 (GRCm39) |
missense |
probably benign |
0.06 |
|
R3405:Ticrr
|
UTSW |
7 |
79,344,539 (GRCm39) |
missense |
probably benign |
0.06 |
|
R3941:Ticrr
|
UTSW |
7 |
79,343,445 (GRCm39) |
intron |
probably benign |
|
|
R3950:Ticrr
|
UTSW |
7 |
79,331,817 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3951:Ticrr
|
UTSW |
7 |
79,331,817 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3952:Ticrr
|
UTSW |
7 |
79,331,817 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4967:Ticrr
|
UTSW |
7 |
79,310,158 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5259:Ticrr
|
UTSW |
7 |
79,344,471 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5272:Ticrr
|
UTSW |
7 |
79,319,353 (GRCm39) |
missense |
probably benign |
0.44 |
|
R5374:Ticrr
|
UTSW |
7 |
79,340,690 (GRCm39) |
nonsense |
probably null |
|
|
R5480:Ticrr
|
UTSW |
7 |
79,310,557 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5568:Ticrr
|
UTSW |
7 |
79,345,044 (GRCm39) |
nonsense |
probably null |
|
|
R5568:Ticrr
|
UTSW |
7 |
79,339,715 (GRCm39) |
critical splice donor site |
probably null |
|
|
R5588:Ticrr
|
UTSW |
7 |
79,328,853 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5698:Ticrr
|
UTSW |
7 |
79,328,881 (GRCm39) |
missense |
probably benign |
|
|
R5879:Ticrr
|
UTSW |
7 |
79,346,438 (GRCm39) |
missense |
probably benign |
0.12 |
|
R5980:Ticrr
|
UTSW |
7 |
79,310,703 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6128:Ticrr
|
UTSW |
7 |
79,343,716 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6277:Ticrr
|
UTSW |
7 |
79,344,444 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6335:Ticrr
|
UTSW |
7 |
79,344,031 (GRCm39) |
splice site |
probably null |
|
|
R6866:Ticrr
|
UTSW |
7 |
79,343,705 (GRCm39) |
missense |
possibly damaging |
0.47 |
|
R6905:Ticrr
|
UTSW |
7 |
79,315,598 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6923:Ticrr
|
UTSW |
7 |
79,341,601 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R6962:Ticrr
|
UTSW |
7 |
79,315,645 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
R7232:Ticrr
|
UTSW |
7 |
79,343,490 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R7285:Ticrr
|
UTSW |
7 |
79,310,610 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R7385:Ticrr
|
UTSW |
7 |
79,341,597 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R7426:Ticrr
|
UTSW |
7 |
79,343,734 (GRCm39) |
missense |
probably benign |
|
|
R7583:Ticrr
|
UTSW |
7 |
79,346,487 (GRCm39) |
nonsense |
probably null |
|
|
R7749:Ticrr
|
UTSW |
7 |
79,328,844 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R7863:Ticrr
|
UTSW |
7 |
79,331,760 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R7899:Ticrr
|
UTSW |
7 |
79,319,233 (GRCm39) |
missense |
probably benign |
0.23 |
|
R7935:Ticrr
|
UTSW |
7 |
79,331,584 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8005:Ticrr
|
UTSW |
7 |
79,343,796 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R8080:Ticrr
|
UTSW |
7 |
79,334,012 (GRCm39) |
splice site |
probably null |
|
|
R8181:Ticrr
|
UTSW |
7 |
79,310,728 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R8349:Ticrr
|
UTSW |
7 |
79,344,428 (GRCm39) |
missense |
probably benign |
0.27 |
|
R8410:Ticrr
|
UTSW |
7 |
79,317,423 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R8449:Ticrr
|
UTSW |
7 |
79,344,428 (GRCm39) |
missense |
probably benign |
0.27 |
|
R9073:Ticrr
|
UTSW |
7 |
79,317,679 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9090:Ticrr
|
UTSW |
7 |
79,310,604 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R9271:Ticrr
|
UTSW |
7 |
79,310,604 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R9287:Ticrr
|
UTSW |
7 |
79,343,516 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R9368:Ticrr
|
UTSW |
7 |
79,330,735 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9469:Ticrr
|
UTSW |
7 |
79,344,511 (GRCm39) |
missense |
probably benign |
0.03 |
|
R9502:Ticrr
|
UTSW |
7 |
79,343,597 (GRCm39) |
missense |
probably benign |
|
|
R9614:Ticrr
|
UTSW |
7 |
79,345,754 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9761:Ticrr
|
UTSW |
7 |
79,345,313 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9779:Ticrr
|
UTSW |
7 |
79,328,802 (GRCm39) |
missense |
probably benign |
0.37 |
|
| Predicted Primers |
PCR Primer
(F):5'- CAGTGTGGATCCTGGTGAAG -3'
(R):5'- CTTTAGCTGGAGACCTTCAGG -3'
Sequencing Primer
(F):5'- ATCCTGGTGAAGGCTGGC -3'
(R):5'- AGCTGGAGACCTTCAGGATTTC -3'
|
| Posted On |
2016-04-27 |
Incidental Mutation