Incidental Mutation 'R7935:Ticrr'
| ID |
648680 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ticrr
|
| Ensembl Gene |
ENSMUSG00000046591 |
| Gene Name |
TOPBP1-interacting checkpoint and replication regulator |
| Synonyms |
5730590G19Rik |
| MMRRC Submission |
045981-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.949)
|
| Stock # |
R7935 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
7 |
| Chromosomal Location |
79309944-79347896 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 79331584 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Glutamine
at position 727
(L727Q)
|
| 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: L727Q
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000041377
Gene: ENSMUSG00000046591
AA Change: L727Q
| 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 damaging
Transcript: ENSMUST00000206591
AA Change: L727Q
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000206622
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.0%
|
| Validation Efficiency |
|
| 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: 61 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aasdhppt |
A |
G |
9: 4,308,732 (GRCm39) |
V124A |
probably benign |
Het |
| Abca4 |
A |
G |
3: 121,904,186 (GRCm39) |
M746V |
possibly damaging |
Het |
| Aldh18a1 |
G |
T |
19: 40,562,226 (GRCm39) |
S266* |
probably null |
Het |
| Aldh1b1 |
C |
A |
4: 45,802,968 (GRCm39) |
H169N |
probably benign |
Het |
| Anpep |
A |
G |
7: 79,476,709 (GRCm39) |
I756T |
possibly damaging |
Het |
| Asb16 |
A |
T |
11: 102,168,739 (GRCm39) |
E405V |
probably benign |
Het |
| B4galnt1 |
T |
A |
10: 127,007,490 (GRCm39) |
F464I |
probably damaging |
Het |
| Bpifb5 |
A |
G |
2: 154,070,975 (GRCm39) |
I225V |
probably benign |
Het |
| Brox |
T |
C |
1: 183,062,484 (GRCm39) |
E290G |
probably damaging |
Het |
| Cacna1s |
T |
A |
1: 136,020,333 (GRCm39) |
V790D |
possibly damaging |
Het |
| Cacng6 |
G |
T |
7: 3,473,384 (GRCm39) |
K69N |
possibly damaging |
Het |
| Catsperg1 |
A |
G |
7: 28,895,344 (GRCm39) |
I503T |
possibly damaging |
Het |
| Cdcp3 |
A |
G |
7: 130,852,205 (GRCm39) |
N814D |
probably damaging |
Het |
| Celsr3 |
A |
C |
9: 108,706,840 (GRCm39) |
M1108L |
probably benign |
Het |
| Chd2 |
T |
C |
7: 73,149,373 (GRCm39) |
N449S |
probably benign |
Het |
| Cpne6 |
T |
C |
14: 55,750,066 (GRCm39) |
C66R |
possibly damaging |
Het |
| Ctnna2 |
T |
C |
6: 76,919,270 (GRCm39) |
E656G |
probably damaging |
Het |
| Dnah17 |
A |
T |
11: 118,018,048 (GRCm39) |
M149K |
probably benign |
Het |
| Dpp8 |
A |
T |
9: 64,944,262 (GRCm39) |
M10L |
possibly damaging |
Het |
| Dst |
T |
C |
1: 34,329,486 (GRCm39) |
L4838P |
probably damaging |
Het |
| Eif4g3 |
T |
A |
4: 137,824,082 (GRCm39) |
I55N |
probably damaging |
Het |
| Gm10750 |
A |
G |
2: 148,858,017 (GRCm39) |
L78P |
unknown |
Het |
| Gulo |
T |
G |
14: 66,237,288 (GRCm39) |
K200Q |
probably benign |
Het |
| Jmjd8 |
T |
A |
17: 26,048,071 (GRCm39) |
L56Q |
probably benign |
Het |
| Kansl1 |
G |
T |
11: 104,315,112 (GRCm39) |
Q309K |
probably damaging |
Het |
| Kcns3 |
A |
C |
12: 11,141,718 (GRCm39) |
L327R |
probably damaging |
Het |
| Mapk10 |
A |
G |
5: 103,139,792 (GRCm39) |
I153T |
possibly damaging |
Het |
| Muc5b |
G |
T |
7: 141,400,569 (GRCm39) |
M513I |
unknown |
Het |
| Nbea |
A |
G |
3: 55,966,086 (GRCm39) |
F459L |
probably damaging |
Het |
| Nrcam |
G |
A |
12: 44,631,644 (GRCm39) |
V1066I |
possibly damaging |
Het |
| Numa1 |
A |
G |
7: 101,651,538 (GRCm39) |
K178E |
probably damaging |
Het |
| Or4b1 |
C |
T |
2: 89,979,928 (GRCm39) |
V141M |
probably benign |
Het |
| Or5au1 |
T |
C |
14: 52,272,645 (GRCm39) |
K308E |
probably benign |
Het |
| Or5d14 |
G |
A |
2: 87,880,290 (GRCm39) |
T226M |
probably damaging |
Het |
| Pabpc4 |
C |
T |
4: 123,191,837 (GRCm39) |
A649V |
probably benign |
Het |
| Parp12 |
C |
A |
6: 39,079,612 (GRCm39) |
K299N |
possibly damaging |
Het |
| Pcdhga7 |
A |
G |
18: 37,849,562 (GRCm39) |
D523G |
possibly damaging |
Het |
| Polr2a |
T |
C |
11: 69,638,330 (GRCm39) |
T79A |
probably benign |
Het |
| Ppp1r7 |
T |
C |
1: 93,273,904 (GRCm39) |
S27P |
probably damaging |
Het |
| Pramel42 |
G |
T |
5: 94,685,440 (GRCm39) |
D367Y |
probably damaging |
Het |
| Prol1 |
T |
G |
5: 88,475,874 (GRCm39) |
L88R |
probably damaging |
Het |
| Ptpn6 |
T |
C |
6: 124,709,425 (GRCm39) |
Q57R |
possibly damaging |
Het |
| Rdh16 |
A |
G |
10: 127,637,334 (GRCm39) |
I90V |
probably benign |
Het |
| Rock2 |
T |
A |
12: 16,998,558 (GRCm39) |
C275S |
probably damaging |
Het |
| Rp1l1 |
G |
T |
14: 64,268,674 (GRCm39) |
R1420L |
probably damaging |
Het |
| Sav1 |
A |
G |
12: 70,033,481 (GRCm39) |
Y21H |
probably damaging |
Het |
| Sec24a |
T |
C |
11: 51,612,749 (GRCm39) |
N536S |
probably benign |
Het |
| Serpina9 |
A |
C |
12: 103,964,421 (GRCm39) |
F339V |
probably damaging |
Het |
| Slc6a13 |
T |
G |
6: 121,311,450 (GRCm39) |
L369V |
possibly damaging |
Het |
| Smarcd3 |
A |
T |
5: 24,801,024 (GRCm39) |
F128I |
probably damaging |
Het |
| Smok2a |
A |
T |
17: 13,444,599 (GRCm39) |
I59F |
probably damaging |
Het |
| Spaca9 |
A |
G |
2: 28,583,634 (GRCm39) |
|
probably null |
Het |
| Ssx2ip |
A |
T |
3: 146,124,928 (GRCm39) |
E84D |
probably benign |
Het |
| Syt12 |
A |
T |
19: 4,497,830 (GRCm39) |
V384E |
probably benign |
Het |
| Tmem170b |
A |
G |
13: 41,781,463 (GRCm39) |
Y36C |
probably damaging |
Het |
| Tpd52l1 |
T |
C |
10: 31,214,201 (GRCm39) |
T161A |
probably damaging |
Het |
| Zan |
T |
A |
5: 137,461,841 (GRCm39) |
T1113S |
unknown |
Het |
| Zfp512b |
T |
C |
2: 181,231,689 (GRCm39) |
T164A |
probably damaging |
Het |
| Zfp521 |
G |
A |
18: 13,977,549 (GRCm39) |
P955S |
probably damaging |
Het |
| Zfp770 |
C |
T |
2: 114,027,305 (GRCm39) |
V255I |
probably benign |
Het |
| Zfp942 |
A |
T |
17: 22,148,208 (GRCm39) |
C140* |
probably null |
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 |
|
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 |
|
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'- AAACCCTGGATTCCTTCCCT -3'
(R):5'- GCAGCAAATCTGTCACCTGA -3'
Sequencing Primer
(F):5'- CAAGACAGGGTTTCTCTGTATAGCC -3'
(R):5'- TCTGTCACCTGAAAGAGATTGC -3'
|
| Posted On |
2020-09-15 |
Incidental Mutation