Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01565:Ticrr'

90956

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: 0.947) question?

Stock #

IGL01565

Quality Score

Status

Chromosome

Chromosomal Location

79660196-79698148 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 79694548 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 1387 (D1387G)

Ref Sequence

ENSEMBL: ENSMUSP00000041377 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000035977] [ENSMUST00000059836] [ENSMUST00000178048] [ENSMUST00000183846] [ENSMUST00000184137] [ENSMUST00000206591] [ENSMUST00000206622]

AlphaFold

Q8BQ33

Predicted Effect

probably benign
Transcript: ENSMUST00000035977
AA Change: D1387G

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000041377
Gene: ENSMUSG00000046591
AA Change: D1387G

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: ENSMUST00000059836

SMART Domains

Protein: ENSMUSP00000061806
Gene: ENSMUSG00000050382

Domain	Start	End	E-Value	Type
KISc	13	357	2.88e-143	SMART
low complexity region	391	410	N/A	INTRINSIC
Blast:KISc	413	481	1e-19	BLAST
Blast:KISc	482	518	3e-11	BLAST
low complexity region	523	540	N/A	INTRINSIC
low complexity region	543	557	N/A	INTRINSIC
low complexity region	621	636	N/A	INTRINSIC
low complexity region	669	685	N/A	INTRINSIC
Blast:KISc	780	879	2e-15	BLAST
low complexity region	927	944	N/A	INTRINSIC
low complexity region	979	993	N/A	INTRINSIC
low complexity region	1049	1061	N/A	INTRINSIC
coiled coil region	1113	1139	N/A	INTRINSIC
coiled coil region	1186	1205	N/A	INTRINSIC
low complexity region	1293	1304	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000178048

SMART Domains

Protein: ENSMUSP00000136993
Gene: ENSMUSG00000050382

Domain	Start	End	E-Value	Type
KISc	13	357	2.88e-143	SMART
low complexity region	391	410	N/A	INTRINSIC
Blast:KISc	413	481	1e-19	BLAST
Blast:KISc	482	518	3e-11	BLAST
low complexity region	523	540	N/A	INTRINSIC
low complexity region	543	557	N/A	INTRINSIC
low complexity region	621	636	N/A	INTRINSIC
low complexity region	669	685	N/A	INTRINSIC
Blast:KISc	780	879	2e-15	BLAST
low complexity region	908	918	N/A	INTRINSIC
low complexity region	928	945	N/A	INTRINSIC
low complexity region	980	994	N/A	INTRINSIC
low complexity region	1050	1062	N/A	INTRINSIC
coiled coil region	1114	1140	N/A	INTRINSIC
coiled coil region	1187	1206	N/A	INTRINSIC
low complexity region	1294	1305	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000183846

SMART Domains

Protein: ENSMUSP00000139359
Gene: ENSMUSG00000050382

Domain	Start	End	E-Value	Type
KISc	13	357	2.88e-143	SMART
low complexity region	391	410	N/A	INTRINSIC
Blast:KISc	413	481	1e-19	BLAST
Blast:KISc	482	518	3e-11	BLAST
low complexity region	523	540	N/A	INTRINSIC
low complexity region	543	557	N/A	INTRINSIC
low complexity region	621	636	N/A	INTRINSIC
low complexity region	669	685	N/A	INTRINSIC
Blast:KISc	780	879	2e-15	BLAST
low complexity region	908	918	N/A	INTRINSIC
low complexity region	928	945	N/A	INTRINSIC
low complexity region	980	994	N/A	INTRINSIC
low complexity region	1050	1062	N/A	INTRINSIC
coiled coil region	1114	1140	N/A	INTRINSIC
coiled coil region	1187	1206	N/A	INTRINSIC
low complexity region	1294	1305	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000184137

SMART Domains

Protein: ENSMUSP00000139224
Gene: ENSMUSG00000050382

Domain	Start	End	E-Value	Type
KISc	13	357	2.88e-143	SMART
low complexity region	391	410	N/A	INTRINSIC
Blast:KISc	413	481	1e-19	BLAST
Blast:KISc	482	518	3e-11	BLAST
low complexity region	523	540	N/A	INTRINSIC
low complexity region	543	557	N/A	INTRINSIC
low complexity region	621	636	N/A	INTRINSIC
low complexity region	669	685	N/A	INTRINSIC
Blast:KISc	780	879	2e-15	BLAST
low complexity region	927	944	N/A	INTRINSIC
low complexity region	979	993	N/A	INTRINSIC
low complexity region	1049	1061	N/A	INTRINSIC
coiled coil region	1113	1139	N/A	INTRINSIC
coiled coil region	1186	1205	N/A	INTRINSIC
low complexity region	1293	1304	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000206591

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: 29 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700017N19Rik	A	G	10: 100,603,360 (GRCm38)	T36A	probably damaging	Het
Ankrd35	A	G	3: 96,684,785 (GRCm38)	M796V	probably damaging	Het
Brpf1	A	T	6: 113,316,650 (GRCm38)	Q560L	probably damaging	Het
Dbil5	T	G	11: 76,218,265 (GRCm38)		probably benign	Het
Dnah9	T	C	11: 66,033,829 (GRCm38)	K2200E	possibly damaging	Het
Gtf2i	T	C	5: 134,255,913 (GRCm38)	I471V	probably damaging	Het
Has3	T	A	8: 106,874,445 (GRCm38)	W180R	probably benign	Het
Lrfn1	T	C	7: 28,458,769 (GRCm38)	C38R	probably damaging	Het
Lrsam1	C	T	2: 32,936,495 (GRCm38)	A455T	probably damaging	Het
Mettl2	C	A	11: 105,126,538 (GRCm38)	D14E	probably benign	Het
Mocs1	G	A	17: 49,452,320 (GRCm38)	R364Q	probably benign	Het
Ndst2	A	T	14: 20,728,206 (GRCm38)	V435E	probably damaging	Het
Pi4ka	A	T	16: 17,389,442 (GRCm38)		probably benign	Het
Pigr	A	C	1: 130,844,474 (GRCm38)	D143A	possibly damaging	Het
Polq	A	C	16: 37,013,113 (GRCm38)	N56T	probably benign	Het
Prmt7	T	G	8: 106,250,409 (GRCm38)	D584E	probably damaging	Het
R3hdm1	A	T	1: 128,186,816 (GRCm38)	Q511H	probably damaging	Het
Rbm33	T	C	5: 28,391,079 (GRCm38)		probably benign	Het
Rdh19	T	G	10: 127,859,595 (GRCm38)	M226R	probably benign	Het
Rock2	G	A	12: 16,953,317 (GRCm38)	D386N	possibly damaging	Het
Slc7a2	A	G	8: 40,899,238 (GRCm38)	T96A	possibly damaging	Het
Spata2	A	G	2: 167,484,294 (GRCm38)	S202P	probably damaging	Het
Swsap1	T	A	9: 21,957,228 (GRCm38)	D265E	possibly damaging	Het
Tdrd3	A	T	14: 87,472,232 (GRCm38)	I117L	probably benign	Het
Tnfaip6	A	G	2: 52,055,834 (GRCm38)	S231G	probably damaging	Het
Trim50	T	A	5: 135,367,501 (GRCm38)	D434E	probably benign	Het
Tyw5	T	C	1: 57,394,081 (GRCm38)	Y105C	probably damaging	Het
Usp50	G	T	2: 126,777,968 (GRCm38)	C141*	probably null	Het
Zfp647	A	T	15: 76,911,670 (GRCm38)	C263*	probably null	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
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
R7899:Ticrr	UTSW	7	79,669,485 (GRCm38)	missense	probably benign	0.23
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

Posted On

2013-12-09