Incidental Mutation 'R6923:Ticrr'
| ID |
539732 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ticrr
|
| Ensembl Gene |
ENSMUSG00000046591 |
| Gene Name |
TOPBP1-interacting checkpoint and replication regulator |
| Synonyms |
5730590G19Rik |
| MMRRC Submission |
045381-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.949)
|
| Stock # |
R6923 (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 G
at 79341601 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Methionine
at position 1062
(I1062M)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000041377
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000035977]
[ENSMUST00000206591]
[ENSMUST00000206622]
|
| AlphaFold |
Q8BQ33 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000035977
AA Change: I1062M
PolyPhen 2
Score 0.976 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000041377
Gene: ENSMUSG00000046591
AA Change: I1062M
| 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: ENSMUST00000206591
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000206622
|
| Meta Mutation Damage Score |
0.0663 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.2%
- 20x: 97.4%
|
| Validation Efficiency |
100% (59/59) |
| 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: 58 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Albfm1 |
A |
G |
5: 90,725,652 (GRCm39) |
N288S |
probably benign |
Het |
| Ap4b1 |
T |
A |
3: 103,719,530 (GRCm39) |
D81E |
probably benign |
Het |
| Atg16l1 |
A |
T |
1: 87,702,078 (GRCm39) |
|
probably null |
Het |
| Atp11a |
A |
G |
8: 12,906,949 (GRCm39) |
T459A |
probably damaging |
Het |
| Bloc1s5 |
T |
A |
13: 38,815,040 (GRCm39) |
I40F |
probably damaging |
Het |
| Bltp2 |
T |
A |
11: 78,165,452 (GRCm39) |
S1323T |
possibly damaging |
Het |
| Capn5 |
T |
A |
7: 97,778,461 (GRCm39) |
Q386L |
probably damaging |
Het |
| Cbfa2t2 |
C |
T |
2: 154,376,903 (GRCm39) |
H529Y |
probably damaging |
Het |
| Cd3d |
T |
C |
9: 44,897,157 (GRCm39) |
|
probably benign |
Het |
| Cenpa |
A |
G |
5: 30,829,806 (GRCm39) |
|
probably null |
Het |
| Chit1 |
A |
T |
1: 134,077,163 (GRCm39) |
Y322F |
probably null |
Het |
| Cntnap5c |
T |
A |
17: 58,399,345 (GRCm39) |
N399K |
possibly damaging |
Het |
| Dock8 |
A |
T |
19: 25,072,970 (GRCm39) |
T417S |
probably benign |
Het |
| Firrm |
A |
G |
1: 163,814,454 (GRCm39) |
|
probably null |
Het |
| Fkbp2 |
A |
G |
19: 6,956,537 (GRCm39) |
|
|
Het |
| Fsip1 |
G |
A |
2: 118,080,394 (GRCm39) |
R121C |
probably benign |
Het |
| Gbp2b |
T |
C |
3: 142,306,320 (GRCm39) |
I131T |
probably benign |
Het |
| Gm12695 |
T |
C |
4: 96,658,053 (GRCm39) |
N39D |
probably benign |
Het |
| Gm4922 |
T |
C |
10: 18,659,616 (GRCm39) |
R369G |
probably damaging |
Het |
| Gpatch3 |
C |
T |
4: 133,309,836 (GRCm39) |
L390F |
probably damaging |
Het |
| Gpd2 |
G |
A |
2: 57,245,800 (GRCm39) |
M443I |
probably damaging |
Het |
| Gpt2 |
G |
A |
8: 86,244,681 (GRCm39) |
E325K |
probably benign |
Het |
| Hdac1-ps |
A |
G |
17: 78,800,343 (GRCm39) |
T445A |
possibly damaging |
Het |
| Jph3 |
A |
G |
8: 122,480,110 (GRCm39) |
T263A |
possibly damaging |
Het |
| Me3 |
C |
A |
7: 89,495,093 (GRCm39) |
A337E |
probably damaging |
Het |
| Mndal |
A |
C |
1: 173,712,264 (GRCm39) |
|
probably null |
Het |
| Msantd5l |
C |
T |
11: 51,144,808 (GRCm39) |
D158N |
probably damaging |
Het |
| Muc6 |
C |
T |
7: 141,217,453 (GRCm39) |
E2342K |
possibly damaging |
Het |
| Neb |
A |
G |
2: 52,076,076 (GRCm39) |
V5659A |
probably damaging |
Het |
| Nkapd1 |
T |
A |
9: 50,521,610 (GRCm39) |
I104L |
probably benign |
Het |
| Nrxn1 |
G |
A |
17: 91,395,661 (GRCm39) |
A165V |
probably benign |
Het |
| Or5b94 |
T |
A |
19: 12,652,409 (GRCm39) |
I280N |
possibly damaging |
Het |
| Or5b97 |
T |
C |
19: 12,878,676 (GRCm39) |
N156S |
probably benign |
Het |
| Orc2 |
A |
G |
1: 58,539,534 (GRCm39) |
L35S |
probably benign |
Het |
| Pax4 |
A |
G |
6: 28,447,118 (GRCm39) |
|
probably null |
Het |
| Pcdhb7 |
C |
T |
18: 37,475,522 (GRCm39) |
|
probably null |
Het |
| Pla2r1 |
C |
T |
2: 60,345,310 (GRCm39) |
E349K |
probably benign |
Het |
| Polr2a |
C |
T |
11: 69,626,787 (GRCm39) |
A1516T |
probably benign |
Het |
| Pramel23 |
A |
T |
4: 143,425,676 (GRCm39) |
I89N |
probably benign |
Het |
| Prpf38a |
G |
T |
4: 108,427,401 (GRCm39) |
D187E |
possibly damaging |
Het |
| Rdh16f1 |
T |
A |
10: 127,624,737 (GRCm39) |
|
probably null |
Het |
| S100z |
T |
A |
13: 95,615,090 (GRCm39) |
D25V |
probably damaging |
Het |
| Scamp2 |
T |
G |
9: 57,488,895 (GRCm39) |
F199V |
probably damaging |
Het |
| Semp2l2b |
C |
A |
10: 21,943,654 (GRCm39) |
G109C |
probably damaging |
Het |
| Senp2 |
T |
G |
16: 21,830,326 (GRCm39) |
|
probably benign |
Het |
| Sltm |
T |
A |
9: 70,481,892 (GRCm39) |
S365T |
probably damaging |
Het |
| Smg6 |
C |
G |
11: 74,820,169 (GRCm39) |
P147A |
possibly damaging |
Het |
| Spem2 |
T |
A |
11: 69,708,603 (GRCm39) |
R121W |
probably damaging |
Het |
| Sufu |
A |
G |
19: 46,439,405 (GRCm39) |
|
probably null |
Het |
| Syt2 |
T |
C |
1: 134,674,501 (GRCm39) |
V313A |
possibly damaging |
Het |
| Tet2 |
C |
T |
3: 133,185,102 (GRCm39) |
|
probably null |
Het |
| Tfeb |
T |
A |
17: 48,097,908 (GRCm39) |
I232N |
probably benign |
Het |
| Vmn2r111 |
T |
C |
17: 22,778,032 (GRCm39) |
N549S |
possibly damaging |
Het |
| Vrk2 |
G |
A |
11: 26,439,893 (GRCm39) |
A226V |
probably damaging |
Het |
| Wnk1 |
A |
T |
6: 119,942,639 (GRCm39) |
|
probably benign |
Het |
| Xpo4 |
G |
T |
14: 57,841,168 (GRCm39) |
T505K |
probably benign |
Het |
| Yy1 |
A |
T |
12: 108,759,594 (GRCm39) |
I86F |
probably benign |
Het |
| Zc3h15 |
A |
G |
2: 83,487,400 (GRCm39) |
D73G |
possibly damaging |
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 |
|
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'- AAATCAGTTACTTCAGTTGCTCCC -3'
(R):5'- ATGTTCCCCAAGACTGCACC -3'
Sequencing Primer
(F):5'- AGAGGTCCTGAGTTCAATTCCCAG -3'
(R):5'- TTCCCCAAGACTGCACCATTTTAAAC -3'
|
| Posted On |
2018-11-06 |
Incidental Mutation