Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01525:Ticrr'

89537

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Ticrr

Ensembl Gene

ENSMUSG00000046591

Gene Name

TOPBP1-interacting checkpoint and replication regulator

Synonyms

5730590G19Rik

Accession Numbers

Essential gene?

Probably essential (E-score: 0.949) question?

Stock #

IGL01525

Quality Score

Status

Chromosome

Chromosomal Location

79309944-79347896 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 79332197 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 843 (L843P)

Ref Sequence

ENSEMBL: ENSMUSP00000145735 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000035977] [ENSMUST00000206017] [ENSMUST00000206591] [ENSMUST00000206622]

AlphaFold

Q8BQ33

Predicted Effect

probably damaging
Transcript: ENSMUST00000035977
AA Change: L843P

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000041377
Gene: ENSMUSG00000046591
AA Change: L843P

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: L843P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

Predicted Effect

probably benign
Transcript: ENSMUST00000206622

Coding Region Coverage

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: 28 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrb1	A	G	15: 74,458,684 (GRCm39)	E322G	probably damaging	Het
Aldh8a1	A	T	10: 21,267,472 (GRCm39)	I286F	probably damaging	Het
Arnt2	T	A	7: 83,924,616 (GRCm39)	T404S	possibly damaging	Het
Asb1	A	G	1: 91,479,846 (GRCm39)	T190A	probably damaging	Het
Atp8b1	G	A	18: 64,672,323 (GRCm39)	R1014*	probably null	Het
Dgcr8	T	C	16: 18,101,808 (GRCm39)	D158G	probably damaging	Het
Dock5	A	G	14: 68,043,169 (GRCm39)		probably benign	Het
Fras1	C	T	5: 96,887,195 (GRCm39)	T2659I	probably damaging	Het
Galt	A	G	4: 41,756,068 (GRCm39)	T45A	probably benign	Het
Gtpbp3	A	G	8: 71,943,078 (GRCm39)	D164G	probably damaging	Het
Ift70b	A	T	2: 75,767,226 (GRCm39)	M509K	probably damaging	Het
Kmt2c	T	A	5: 25,534,439 (GRCm39)		probably benign	Het
Lrrc59	A	T	11: 94,525,522 (GRCm39)	Q106L	probably damaging	Het
Mgat4c	A	G	10: 102,214,057 (GRCm39)	I13M	probably damaging	Het
Muc19	T	A	15: 91,770,877 (GRCm39)		noncoding transcript	Het
Myo5b	C	T	18: 74,873,620 (GRCm39)	A1508V	probably damaging	Het
Or2o1	A	G	11: 49,051,501 (GRCm39)	Y220C	probably damaging	Het
Or52ad1	T	A	7: 102,995,386 (GRCm39)	I250F	probably benign	Het
Or5d39	T	C	2: 87,980,221 (GRCm39)	I47M	probably benign	Het
Plxna2	A	G	1: 194,394,619 (GRCm39)	E500G	probably benign	Het
Psme4	T	A	11: 30,759,936 (GRCm39)		probably benign	Het
S100a8	A	T	3: 90,576,876 (GRCm39)	S10C	probably damaging	Het
Sdk1	T	C	5: 141,985,675 (GRCm39)	V769A	probably damaging	Het
Sorbs1	G	T	19: 40,338,422 (GRCm39)	T326K	probably damaging	Het
Spata31d1b	T	C	13: 59,860,280 (GRCm39)	I51T	probably benign	Het
Thumpd3	T	C	6: 113,024,597 (GRCm39)	S64P	probably damaging	Het
Ttn	A	T	2: 76,641,108 (GRCm39)	I13587N	probably damaging	Het
Txndc2	A	G	17: 65,945,908 (GRCm39)	S90P	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
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
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

Posted On

2013-12-03