Incidental Mutation 'R7899:Ticrr'
| ID |
609890 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ticrr
|
| Ensembl Gene |
ENSMUSG00000046591 |
| Gene Name |
TOPBP1-interacting checkpoint and replication regulator |
| Synonyms |
5730590G19Rik |
| MMRRC Submission |
045951-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.947)
|
| Stock # |
R7899 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
79660196-79698148 bp(+) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 79669485 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Threonine
at position 406
(I406T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000041377
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000035977]
[ENSMUST00000206017]
[ENSMUST00000206591]
[ENSMUST00000206622]
|
| AlphaFold |
Q8BQ33 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000035977
AA Change: I406T
PolyPhen 2
Score 0.226 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000041377
Gene: ENSMUSG00000046591
AA Change: I406T
| 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 |
probably benign
Transcript: ENSMUST00000206591
AA Change: I406T
PolyPhen 2
Score 0.385 (Sensitivity: 0.90; Specificity: 0.89)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000206622
AA Change: I406T
PolyPhen 2
Score 0.226 (Sensitivity: 0.91; Specificity: 0.88)
|
| Meta Mutation Damage Score |
0.1707 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.8%
|
| Validation Efficiency |
97% (70/72) |
| 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: 75 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1500011B03Rik |
T |
C |
5: 114,809,320 (GRCm38) |
T49A |
possibly damaging |
Het |
| 4932415D10Rik |
A |
G |
10: 82,282,897 (GRCm38) |
S4760P |
unknown |
Het |
| A530084C06Rik |
G |
T |
13: 31,558,995 (GRCm38) |
R92S |
unknown |
Het |
| Aagab |
T |
C |
9: 63,616,850 (GRCm38) |
F80L |
probably benign |
Het |
| Aox2 |
A |
G |
1: 58,281,237 (GRCm38) |
|
probably null |
Het |
| Arhgef2 |
T |
C |
3: 88,621,262 (GRCm38) |
S2P |
probably damaging |
Het |
| Bcar3 |
T |
G |
3: 122,508,253 (GRCm38) |
V199G |
probably damaging |
Het |
| C1ra |
G |
A |
6: 124,517,725 (GRCm38) |
E316K |
probably benign |
Het |
| Cacna1a |
G |
A |
8: 84,594,173 (GRCm38) |
V1587M |
possibly damaging |
Het |
| Caps2 |
C |
A |
10: 112,165,761 (GRCm38) |
S19Y |
possibly damaging |
Het |
| Cep89 |
G |
A |
7: 35,429,928 (GRCm38) |
R630H |
probably damaging |
Het |
| Cobll1 |
A |
G |
2: 65,125,931 (GRCm38) |
C328R |
probably damaging |
Het |
| Colec11 |
A |
C |
12: 28,595,282 (GRCm38) |
V130G |
probably damaging |
Het |
| Dennd5b |
A |
T |
6: 149,041,661 (GRCm38) |
D572E |
probably damaging |
Het |
| Dido1 |
A |
T |
2: 180,671,597 (GRCm38) |
S961T |
possibly damaging |
Het |
| Dnah7c |
A |
T |
1: 46,514,701 (GRCm38) |
M380L |
probably benign |
Het |
| Dnaic2 |
T |
C |
11: 114,738,630 (GRCm38) |
I161T |
probably benign |
Het |
| Dnttip2 |
T |
A |
3: 122,282,369 (GRCm38) |
M650K |
probably damaging |
Het |
| Dpp6 |
C |
T |
5: 27,721,079 (GRCm38) |
P717L |
probably benign |
Het |
| Epha10 |
A |
G |
4: 124,914,835 (GRCm38) |
E759G |
|
Het |
| Frmd4a |
T |
C |
2: 4,604,089 (GRCm38) |
W923R |
probably damaging |
Het |
| Ftsj3 |
C |
A |
11: 106,252,289 (GRCm38) |
E400* |
probably null |
Het |
| Gabra4 |
C |
A |
5: 71,657,995 (GRCm38) |
|
probably benign |
Het |
| Gfm1 |
T |
A |
3: 67,473,527 (GRCm38) |
N658K |
probably benign |
Het |
| Gm21560 |
A |
T |
14: 6,218,220 (GRCm38) |
I86N |
probably damaging |
Het |
| Gm6657 |
A |
G |
12: 78,197,422 (GRCm38) |
N50D |
|
Het |
| Gm9573 |
TCAGGGTGGGGGTAGAGCCTGAGCCACTGCTAGATGCAGTGGTGGGCAGGGTGGGGGTAGAGCCTGAG |
TCAGGGTGGGGGTAGAGCCTGAG |
17: 35,620,601 (GRCm38) |
|
probably benign |
Het |
| Gpr68 |
C |
A |
12: 100,878,448 (GRCm38) |
C279F |
probably damaging |
Het |
| Hspg2 |
G |
A |
4: 137,548,116 (GRCm38) |
A2752T |
possibly damaging |
Het |
| Hydin |
A |
T |
8: 110,587,748 (GRCm38) |
D4288V |
probably benign |
Het |
| Ift74 |
A |
G |
4: 94,621,977 (GRCm38) |
T82A |
possibly damaging |
Het |
| Ints7 |
T |
A |
1: 191,621,315 (GRCm38) |
W918R |
probably damaging |
Het |
| Kcnc1 |
T |
A |
7: 46,427,821 (GRCm38) |
I349N |
probably damaging |
Het |
| Loxl1 |
C |
T |
9: 58,290,834 (GRCm38) |
D580N |
probably damaging |
Het |
| Mlph |
A |
T |
1: 90,941,763 (GRCm38) |
R496* |
probably null |
Het |
| Mtdh |
A |
G |
15: 34,123,719 (GRCm38) |
D364G |
possibly damaging |
Het |
| Mtmr11 |
C |
A |
3: 96,170,428 (GRCm38) |
L580I |
probably damaging |
Het |
| Muc16 |
T |
C |
9: 18,640,697 (GRCm38) |
I4767V |
probably benign |
Het |
| Myot |
A |
G |
18: 44,354,184 (GRCm38) |
T363A |
probably benign |
Het |
| Nfxl1 |
G |
A |
5: 72,524,215 (GRCm38) |
P658S |
probably damaging |
Het |
| Nhlrc3 |
A |
C |
3: 53,461,659 (GRCm38) |
S120A |
probably benign |
Het |
| Nmur2 |
C |
A |
11: 56,040,335 (GRCm38) |
Q183H |
probably benign |
Het |
| Nucb2 |
T |
A |
7: 116,521,970 (GRCm38) |
I45K |
probably benign |
Het |
| Nup155 |
A |
T |
15: 8,119,179 (GRCm38) |
D277V |
probably damaging |
Het |
| Olfr995 |
T |
C |
2: 85,438,397 (GRCm38) |
T254A |
probably benign |
Het |
| Orc1 |
T |
G |
4: 108,603,371 (GRCm38) |
|
probably null |
Het |
| Panx2 |
A |
G |
15: 89,068,733 (GRCm38) |
T468A |
possibly damaging |
Het |
| Pcdh7 |
A |
G |
5: 57,719,810 (GRCm38) |
S236G |
probably benign |
Het |
| Pcdhga2 |
G |
C |
18: 37,670,857 (GRCm38) |
G585R |
probably damaging |
Het |
| Perm1 |
TGCCTCTGAGCCTGACACGGCTTTGTCTACACCCGCCTCTGAGCCTGACACGGCTTTGTCTACACCCGCCTCTGAGCCTGACACGGCTTTGTCTACACCCGCCTCT |
TGCCTCTGAGCCTGACACGGCTTTGTCTACACCCGCCTCTGAGCCTGACACGGCTTTGTCTACACCCGCCTCT |
4: 156,218,068 (GRCm38) |
|
probably benign |
Het |
| Pgr |
T |
G |
9: 8,903,742 (GRCm38) |
M588R |
probably benign |
Het |
| Ptpn18 |
A |
T |
1: 34,469,905 (GRCm38) |
|
probably null |
Het |
| Rbm8a2 |
T |
A |
1: 175,978,641 (GRCm38) |
H90L |
probably benign |
Het |
| Ryr3 |
A |
T |
2: 112,646,950 (GRCm38) |
L4507Q |
possibly damaging |
Het |
| Serpina12 |
A |
G |
12: 104,038,265 (GRCm38) |
V36A |
probably benign |
Het |
| Sis |
T |
A |
3: 72,937,251 (GRCm38) |
S717C |
probably damaging |
Het |
| Slit2 |
A |
G |
5: 48,247,185 (GRCm38) |
E846G |
possibly damaging |
Het |
| Smr3a |
C |
T |
5: 88,008,227 (GRCm38) |
H85Y |
unknown |
Het |
| Sned1 |
G |
C |
1: 93,274,082 (GRCm38) |
R590P |
probably benign |
Het |
| Sult2a7 |
A |
G |
7: 14,465,209 (GRCm38) |
Y298H |
probably damaging |
Het |
| Syn3 |
A |
G |
10: 86,064,929 (GRCm38) |
V365A |
possibly damaging |
Het |
| Syne1 |
A |
T |
10: 5,227,956 (GRCm38) |
Y4839* |
probably null |
Het |
| Taf4 |
G |
A |
2: 179,932,029 (GRCm38) |
T682M |
probably damaging |
Het |
| Tbl3 |
G |
T |
17: 24,702,484 (GRCm38) |
H478N |
probably damaging |
Het |
| Tcirg1 |
A |
T |
19: 3,899,104 (GRCm38) |
I395N |
probably damaging |
Het |
| Tmem120a |
C |
A |
5: 135,737,198 (GRCm38) |
K123N |
probably benign |
Het |
| Tmem173 |
A |
G |
18: 35,734,573 (GRCm38) |
S357P |
probably damaging |
Het |
| Tmem184c |
A |
G |
8: 77,597,811 (GRCm38) |
V350A |
probably damaging |
Het |
| Tmem70 |
G |
T |
1: 16,677,044 (GRCm38) |
M128I |
probably benign |
Het |
| Tmx3 |
A |
T |
18: 90,527,874 (GRCm38) |
|
probably null |
Het |
| Topors |
G |
C |
4: 40,260,356 (GRCm38) |
S976W |
unknown |
Het |
| Trp53 |
T |
C |
11: 69,590,693 (GRCm38) |
L341P |
probably damaging |
Het |
| Usp14 |
T |
C |
18: 10,000,563 (GRCm38) |
K366E |
possibly damaging |
Het |
| Zbtb49 |
G |
T |
5: 38,213,930 (GRCm38) |
C202* |
probably null |
Het |
| Zkscan5 |
A |
C |
5: 145,220,866 (GRCm38) |
H726P |
probably damaging |
Het |
|
| Other mutations in Ticrr |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00087:Ticrr
|
APN |
7 |
79,677,283 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL00596:Ticrr
|
APN |
7 |
79,677,293 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL01327:Ticrr
|
APN |
7 |
79,694,461 (GRCm38) |
missense |
probably benign |
0.00 |
|
IGL01525:Ticrr
|
APN |
7 |
79,682,449 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL01565:Ticrr
|
APN |
7 |
79,694,548 (GRCm38) |
missense |
probably benign |
|
|
IGL01936:Ticrr
|
APN |
7 |
79,694,549 (GRCm38) |
missense |
probably benign |
0.11 |
|
IGL02160:Ticrr
|
APN |
7 |
79,694,019 (GRCm38) |
missense |
probably benign |
0.29 |
|
IGL02246:Ticrr
|
APN |
7 |
79,675,328 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL02487:Ticrr
|
APN |
7 |
79,683,021 (GRCm38) |
missense |
possibly damaging |
0.86 |
|
IGL02593:Ticrr
|
APN |
7 |
79,695,466 (GRCm38) |
missense |
probably damaging |
0.99 |
|
IGL02970:Ticrr
|
APN |
7 |
79,695,171 (GRCm38) |
missense |
probably benign |
0.01 |
|
FR4304:Ticrr
|
UTSW |
7 |
79,694,311 (GRCm38) |
intron |
probably benign |
|
|
PIT4305001:Ticrr
|
UTSW |
7 |
79,679,023 (GRCm38) |
missense |
possibly damaging |
0.95 |
|
PIT4791001:Ticrr
|
UTSW |
7 |
79,669,638 (GRCm38) |
missense |
possibly damaging |
0.92 |
|
R0016:Ticrr
|
UTSW |
7 |
79,693,792 (GRCm38) |
missense |
probably benign |
0.01 |
|
R0062:Ticrr
|
UTSW |
7 |
79,667,906 (GRCm38) |
missense |
probably benign |
0.01 |
|
R0062:Ticrr
|
UTSW |
7 |
79,667,906 (GRCm38) |
missense |
probably benign |
0.01 |
|
R0067:Ticrr
|
UTSW |
7 |
79,677,410 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0067:Ticrr
|
UTSW |
7 |
79,677,410 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0362:Ticrr
|
UTSW |
7 |
79,677,340 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0482:Ticrr
|
UTSW |
7 |
79,694,488 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R0595:Ticrr
|
UTSW |
7 |
79,695,563 (GRCm38) |
missense |
possibly damaging |
0.94 |
|
R1118:Ticrr
|
UTSW |
7 |
79,693,953 (GRCm38) |
missense |
probably benign |
0.23 |
|
R1119:Ticrr
|
UTSW |
7 |
79,693,953 (GRCm38) |
missense |
probably benign |
0.23 |
|
R1572:Ticrr
|
UTSW |
7 |
79,681,824 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1658:Ticrr
|
UTSW |
7 |
79,695,549 (GRCm38) |
missense |
possibly damaging |
0.57 |
|
R1757:Ticrr
|
UTSW |
7 |
79,679,046 (GRCm38) |
nonsense |
probably null |
|
|
R1757:Ticrr
|
UTSW |
7 |
79,675,323 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R1862:Ticrr
|
UTSW |
7 |
79,695,207 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1869:Ticrr
|
UTSW |
7 |
79,679,135 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1938:Ticrr
|
UTSW |
7 |
79,675,394 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R1966:Ticrr
|
UTSW |
7 |
79,694,735 (GRCm38) |
nonsense |
probably null |
|
|
R2006:Ticrr
|
UTSW |
7 |
79,694,073 (GRCm38) |
missense |
possibly damaging |
0.93 |
|
R2178:Ticrr
|
UTSW |
7 |
79,665,685 (GRCm38) |
missense |
probably benign |
0.12 |
|
R3404:Ticrr
|
UTSW |
7 |
79,694,791 (GRCm38) |
missense |
probably benign |
0.06 |
|
R3405:Ticrr
|
UTSW |
7 |
79,694,791 (GRCm38) |
missense |
probably benign |
0.06 |
|
R3941:Ticrr
|
UTSW |
7 |
79,693,697 (GRCm38) |
intron |
probably benign |
|
|
R3950:Ticrr
|
UTSW |
7 |
79,682,069 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R3951:Ticrr
|
UTSW |
7 |
79,682,069 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R3952:Ticrr
|
UTSW |
7 |
79,682,069 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4967:Ticrr
|
UTSW |
7 |
79,660,410 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R4972:Ticrr
|
UTSW |
7 |
79,669,668 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R5259:Ticrr
|
UTSW |
7 |
79,694,723 (GRCm38) |
missense |
probably benign |
0.01 |
|
R5272:Ticrr
|
UTSW |
7 |
79,669,605 (GRCm38) |
missense |
probably benign |
0.44 |
|
R5374:Ticrr
|
UTSW |
7 |
79,690,942 (GRCm38) |
nonsense |
probably null |
|
|
R5480:Ticrr
|
UTSW |
7 |
79,660,809 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5568:Ticrr
|
UTSW |
7 |
79,695,296 (GRCm38) |
nonsense |
probably null |
|
|
R5568:Ticrr
|
UTSW |
7 |
79,689,967 (GRCm38) |
critical splice donor site |
probably null |
|
|
R5588:Ticrr
|
UTSW |
7 |
79,679,105 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5698:Ticrr
|
UTSW |
7 |
79,679,133 (GRCm38) |
missense |
probably benign |
|
|
R5879:Ticrr
|
UTSW |
7 |
79,696,690 (GRCm38) |
missense |
probably benign |
0.12 |
|
R5980:Ticrr
|
UTSW |
7 |
79,660,955 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R6128:Ticrr
|
UTSW |
7 |
79,693,968 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6277:Ticrr
|
UTSW |
7 |
79,694,696 (GRCm38) |
missense |
probably benign |
0.00 |
|
R6335:Ticrr
|
UTSW |
7 |
79,694,283 (GRCm38) |
splice site |
probably null |
|
|
R6866:Ticrr
|
UTSW |
7 |
79,693,957 (GRCm38) |
missense |
possibly damaging |
0.47 |
|
R6905:Ticrr
|
UTSW |
7 |
79,665,850 (GRCm38) |
missense |
probably benign |
0.00 |
|
R6923:Ticrr
|
UTSW |
7 |
79,691,853 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R6962:Ticrr
|
UTSW |
7 |
79,665,897 (GRCm38) |
missense |
possibly damaging |
0.84 |
|
R7232:Ticrr
|
UTSW |
7 |
79,693,742 (GRCm38) |
missense |
probably damaging |
0.96 |
|
R7285:Ticrr
|
UTSW |
7 |
79,660,862 (GRCm38) |
missense |
possibly damaging |
0.93 |
|
R7385:Ticrr
|
UTSW |
7 |
79,691,849 (GRCm38) |
missense |
possibly damaging |
0.93 |
|
R7426:Ticrr
|
UTSW |
7 |
79,693,986 (GRCm38) |
missense |
probably benign |
|
|
R7583:Ticrr
|
UTSW |
7 |
79,696,739 (GRCm38) |
nonsense |
probably null |
|
|
R7749:Ticrr
|
UTSW |
7 |
79,679,096 (GRCm38) |
missense |
possibly damaging |
0.94 |
|
R7863:Ticrr
|
UTSW |
7 |
79,682,012 (GRCm38) |
missense |
possibly damaging |
0.92 |
|
R7935:Ticrr
|
UTSW |
7 |
79,681,836 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R8005:Ticrr
|
UTSW |
7 |
79,694,048 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R8080:Ticrr
|
UTSW |
7 |
79,684,264 (GRCm38) |
splice site |
probably null |
|
|
R8181:Ticrr
|
UTSW |
7 |
79,660,980 (GRCm38) |
missense |
possibly damaging |
0.92 |
|
R8349:Ticrr
|
UTSW |
7 |
79,694,680 (GRCm38) |
missense |
probably benign |
0.27 |
|
R8410:Ticrr
|
UTSW |
7 |
79,667,675 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R8449:Ticrr
|
UTSW |
7 |
79,694,680 (GRCm38) |
missense |
probably benign |
0.27 |
|
R9073:Ticrr
|
UTSW |
7 |
79,667,931 (GRCm38) |
missense |
probably benign |
0.01 |
|
R9090:Ticrr
|
UTSW |
7 |
79,660,856 (GRCm38) |
missense |
possibly damaging |
0.85 |
|
R9271:Ticrr
|
UTSW |
7 |
79,660,856 (GRCm38) |
missense |
possibly damaging |
0.85 |
|
R9287:Ticrr
|
UTSW |
7 |
79,693,768 (GRCm38) |
missense |
possibly damaging |
0.89 |
|
R9368:Ticrr
|
UTSW |
7 |
79,680,987 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R9469:Ticrr
|
UTSW |
7 |
79,694,763 (GRCm38) |
missense |
probably benign |
0.03 |
|
R9502:Ticrr
|
UTSW |
7 |
79,693,849 (GRCm38) |
missense |
probably benign |
|
|
R9614:Ticrr
|
UTSW |
7 |
79,696,006 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9761:Ticrr
|
UTSW |
7 |
79,695,565 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9779:Ticrr
|
UTSW |
7 |
79,679,054 (GRCm38) |
missense |
probably benign |
0.37 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGTACTGGACTTGGAAAAGGTG -3'
(R):5'- TTACCAGAAGACGCAGGGTC -3'
Sequencing Primer
(F):5'- AAAAGGTGGATGTGGGTCTCTATTC -3'
(R):5'- GACGCAGGGTCTTCAAATAAATTATG -3'
|
| Posted On |
2019-12-20 |
Incidental Mutation