Incidental Mutation 'R7285:Ticrr'
| ID |
565936 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ticrr
|
| Ensembl Gene |
ENSMUSG00000046591 |
| Gene Name |
TOPBP1-interacting checkpoint and replication regulator |
| Synonyms |
5730590G19Rik |
| MMRRC Submission |
045393-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.948)
|
| Stock # |
R7285 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
79309944-79347896 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 79310610 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 175
(S175P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000041377
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000035977]
[ENSMUST00000206017]
[ENSMUST00000206591]
[ENSMUST00000206622]
|
| AlphaFold |
Q8BQ33 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000035977
AA Change: S175P
PolyPhen 2
Score 0.930 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000041377
Gene: ENSMUSG00000046591
AA Change: S175P
| 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 damaging
Transcript: ENSMUST00000206017
AA Change: S175P
PolyPhen 2
Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000206591
AA Change: S175P
PolyPhen 2
Score 0.966 (Sensitivity: 0.77; Specificity: 0.95)
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000206622
AA Change: S175P
PolyPhen 2
Score 0.930 (Sensitivity: 0.81; Specificity: 0.94)
|
| Meta Mutation Damage Score |
0.0767 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 98.9%
|
| Validation Efficiency |
100% (58/58) |
| 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: 57 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca12 |
A |
T |
1: 71,388,314 (GRCm39) |
C185* |
probably null |
Het |
| Abcc3 |
C |
T |
11: 94,247,873 (GRCm39) |
A1207T |
probably benign |
Het |
| Adam1b |
T |
G |
5: 121,639,056 (GRCm39) |
D663A |
probably damaging |
Het |
| Arhgap12 |
A |
T |
18: 6,111,920 (GRCm39) |
L148Q |
probably damaging |
Het |
| Cdh4 |
A |
T |
2: 179,439,258 (GRCm39) |
Q135L |
probably benign |
Het |
| Clca3b |
T |
C |
3: 144,543,519 (GRCm39) |
I437V |
probably benign |
Het |
| Cldn15 |
A |
T |
5: 137,001,327 (GRCm39) |
H124L |
probably benign |
Het |
| Cyp4a30b |
T |
C |
4: 115,313,848 (GRCm39) |
M143T |
probably damaging |
Het |
| Dgcr2 |
A |
T |
16: 17,662,944 (GRCm39) |
C353* |
probably null |
Het |
| Dhcr24 |
T |
A |
4: 106,428,716 (GRCm39) |
|
probably null |
Het |
| Dock1 |
T |
G |
7: 134,346,737 (GRCm39) |
L223R |
probably benign |
Het |
| Ece1 |
T |
A |
4: 137,641,074 (GRCm39) |
|
probably null |
Het |
| Efcab5 |
A |
G |
11: 77,028,170 (GRCm39) |
V387A |
probably benign |
Het |
| Efcab5 |
A |
G |
11: 77,029,041 (GRCm39) |
F97L |
possibly damaging |
Het |
| Eme2 |
A |
T |
17: 25,113,543 (GRCm39) |
|
probably null |
Het |
| Enpp1 |
G |
A |
10: 24,536,059 (GRCm39) |
T447I |
probably benign |
Het |
| Fam222b |
T |
C |
11: 78,034,007 (GRCm39) |
S17P |
probably benign |
Het |
| Fbln1 |
A |
G |
15: 85,121,829 (GRCm39) |
I317V |
probably benign |
Het |
| Fn1 |
T |
C |
1: 71,676,498 (GRCm39) |
K578E |
probably damaging |
Het |
| Fscb |
A |
T |
12: 64,518,323 (GRCm39) |
S1048T |
unknown |
Het |
| Fsd1l |
T |
A |
4: 53,682,200 (GRCm39) |
|
probably null |
Het |
| Hexa |
T |
A |
9: 59,471,222 (GRCm39) |
I492K |
probably benign |
Het |
| Inpp5e |
G |
A |
2: 26,287,870 (GRCm39) |
A642V |
probably benign |
Het |
| Ints11 |
C |
T |
4: 155,970,568 (GRCm39) |
A241V |
probably damaging |
Het |
| Irs2 |
A |
G |
8: 11,056,797 (GRCm39) |
L545P |
probably damaging |
Het |
| Katnal2 |
G |
A |
18: 77,081,271 (GRCm39) |
A409V |
probably benign |
Het |
| Kif13a |
C |
T |
13: 46,905,931 (GRCm39) |
V671M |
possibly damaging |
Het |
| Lbx2 |
A |
G |
6: 83,064,877 (GRCm39) |
K138R |
probably damaging |
Het |
| Lcor |
A |
G |
19: 41,572,754 (GRCm39) |
K503R |
possibly damaging |
Het |
| Lpp |
G |
A |
16: 24,796,029 (GRCm39) |
A558T |
probably damaging |
Het |
| Lypla1 |
T |
C |
1: 4,911,321 (GRCm39) |
I202T |
probably benign |
Het |
| Magi3 |
G |
A |
3: 103,941,430 (GRCm39) |
P842S |
probably benign |
Het |
| Meioc |
G |
A |
11: 102,557,168 (GRCm39) |
V25M |
probably benign |
Het |
| Mthfr |
C |
T |
4: 148,138,056 (GRCm39) |
T557I |
probably benign |
Het |
| Nbeal1 |
G |
C |
1: 60,276,310 (GRCm39) |
V684L |
probably benign |
Het |
| Or2t44 |
T |
A |
11: 58,677,310 (GRCm39) |
Y83* |
probably null |
Het |
| Or5d20-ps1 |
A |
T |
2: 87,932,049 (GRCm39) |
I94N |
probably damaging |
Het |
| Osbpl10 |
A |
T |
9: 115,052,771 (GRCm39) |
I440F |
probably damaging |
Het |
| Otx2 |
G |
A |
14: 48,898,922 (GRCm39) |
A36V |
probably benign |
Het |
| Parg |
A |
G |
14: 31,932,465 (GRCm39) |
Y435C |
probably damaging |
Het |
| Parvb |
A |
T |
15: 84,166,985 (GRCm39) |
D100V |
possibly damaging |
Het |
| Prss27 |
A |
G |
17: 24,264,665 (GRCm39) |
H276R |
probably benign |
Het |
| Prune1 |
T |
A |
3: 95,162,357 (GRCm39) |
S439C |
probably damaging |
Het |
| Pudp |
C |
G |
18: 50,701,287 (GRCm39) |
E149Q |
possibly damaging |
Het |
| Qng1 |
T |
C |
13: 58,532,199 (GRCm39) |
Y119C |
probably damaging |
Het |
| Sin3a |
C |
A |
9: 57,034,583 (GRCm39) |
T1252N |
possibly damaging |
Het |
| Sptbn2 |
A |
G |
19: 4,787,471 (GRCm39) |
D927G |
probably benign |
Het |
| Stx18 |
C |
T |
5: 38,262,251 (GRCm39) |
T89I |
possibly damaging |
Het |
| Tinag |
T |
C |
9: 76,952,943 (GRCm39) |
T14A |
probably benign |
Het |
| Tmco3 |
G |
A |
8: 13,369,605 (GRCm39) |
|
probably null |
Het |
| Trpm1 |
G |
T |
7: 63,859,729 (GRCm39) |
E396* |
probably null |
Het |
| Txndc11 |
A |
G |
16: 10,902,163 (GRCm39) |
Y684H |
probably damaging |
Het |
| Usp47 |
G |
A |
7: 111,692,315 (GRCm39) |
E926K |
probably benign |
Het |
| Vmn1r233 |
A |
G |
17: 21,214,221 (GRCm39) |
I243T |
probably damaging |
Het |
| Ythdf3 |
T |
A |
3: 16,258,049 (GRCm39) |
|
probably null |
Het |
| Zfp12 |
A |
G |
5: 143,230,444 (GRCm39) |
K289R |
probably damaging |
Het |
| Zfp950 |
T |
A |
19: 61,107,550 (GRCm39) |
H511L |
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 |
|
R4972:Ticrr
|
UTSW |
7 |
79,319,416 (GRCm39) |
missense |
probably damaging |
0.98 |
|
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 |
|
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'- AAGTTCTTCGACTCTCAGGGG -3'
(R):5'- TGACAAGTTCAGCTGTCGG -3'
Sequencing Primer
(F):5'- ATGGAGACGCTGCTCGACTAC -3'
(R):5'- CAGCTGTCGGGGAGTTGC -3'
|
| Posted On |
2019-06-26 |
Incidental Mutation