Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02593:Ticrr'

299791

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 #

IGL02593

Quality Score

Status

Chromosome

Chromosomal Location

79309944-79347896 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 79345214 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 1693 (D1693G)

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 damaging
Transcript: ENSMUST00000035977
AA Change: D1693G

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000041377
Gene: ENSMUSG00000046591
AA Change: D1693G

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: 28 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ahsg	G	T	16: 22,711,078 (GRCm39)		probably null	Het
Bbs4	C	T	9: 59,235,880 (GRCm39)	D232N	probably damaging	Het
Cdh23	A	T	10: 60,301,774 (GRCm39)		probably benign	Het
Cntn5	T	C	9: 9,833,504 (GRCm39)	N554S	probably damaging	Het
Fn1	T	C	1: 71,641,591 (GRCm39)	I1652V	probably benign	Het
Golga4	T	C	9: 118,384,634 (GRCm39)		probably benign	Het
Idh3a	T	A	9: 54,503,477 (GRCm39)		probably benign	Het
Jph2	T	C	2: 163,239,166 (GRCm39)	Y94C	probably damaging	Het
Lnx2	A	G	5: 146,969,825 (GRCm39)	S238P	possibly damaging	Het
Loxhd1	A	G	18: 77,498,235 (GRCm39)	I56V	possibly damaging	Het
Myo9b	A	C	8: 71,743,417 (GRCm39)	E159D	probably damaging	Het
Nkiras1	A	G	14: 18,278,475 (GRCm38)	N63S	possibly damaging	Het
Nnmt	A	G	9: 48,516,103 (GRCm39)		probably null	Het
Or13a22	G	A	7: 140,073,244 (GRCm39)	R231H	probably benign	Het
P2ry10	T	C	X: 106,146,302 (GRCm39)	I79T	possibly damaging	Het
Padi2	A	G	4: 140,677,153 (GRCm39)	H647R	probably damaging	Het
Pate10	T	A	9: 35,653,438 (GRCm39)	C81S	possibly damaging	Het
Ptchd4	A	G	17: 42,628,037 (GRCm39)	D166G	probably benign	Het
Scml2	T	C	X: 159,970,305 (GRCm39)	V125A	probably benign	Het
Senp2	A	G	16: 21,863,021 (GRCm39)	D556G	probably damaging	Het
Serpina3a	G	T	12: 104,084,691 (GRCm39)	V29L	probably benign	Het
Sgcz	A	T	8: 37,990,432 (GRCm39)	I307N	probably damaging	Het
Slc25a13	C	T	6: 6,042,265 (GRCm39)	V638I	probably benign	Het
Snx7	G	A	3: 117,633,609 (GRCm39)	L84F	probably damaging	Het
Tm9sf5	G	A	X: 56,467,320 (GRCm39)	D245N	probably benign	Het
Vmn2r7	C	T	3: 64,600,443 (GRCm39)	C485Y	probably damaging	Het
Vmn2r-ps129	C	T	17: 23,211,770 (GRCm39)		noncoding transcript	Het
Zfyve9	A	G	4: 108,539,420 (GRCm39)	V951A	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
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

2015-04-16