Mutagenetix > Incidental Mutation

Incidental Mutation 'R3941:Ticrr'

307447

Institutional Source

Beutler Lab

Gene Symbol

Ticrr

Ensembl Gene

ENSMUSG00000046591

Gene Name

TOPBP1-interacting checkpoint and replication regulator

Synonyms

5730590G19Rik

MMRRC Submission

040923-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.949) question?

Stock #

R3941 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

79309944-79347896 bp(+) (GRCm39)

Type of Mutation

intron

DNA Base Change (assembly)

T to C at 79343445 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000146155 (fasta)

Gene Model

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

AlphaFold

Q8BQ33

Predicted Effect

probably benign
Transcript: ENSMUST00000035977

SMART Domains

Protein: ENSMUSP00000041377
Gene: ENSMUSG00000046591

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

1x: 99.2%
3x: 98.6%
10x: 97.4%
20x: 95.3%

Validation Efficiency

98% (55/56)

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: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc1	A	T	16: 14,214,263 (GRCm39)	T193S	probably benign	Het
Arhgap11a	A	T	2: 113,667,242 (GRCm39)	L435Q	probably damaging	Het
Bin1	T	C	18: 32,539,211 (GRCm39)	V48A	probably damaging	Het
Brinp3	C	A	1: 146,627,599 (GRCm39)	D277E	probably damaging	Het
Btn1a1	T	G	13: 23,643,434 (GRCm39)	R338S	probably benign	Het
Cacnb4	C	A	2: 52,359,501 (GRCm39)	R169L	probably damaging	Het
Ccdc80	A	G	16: 44,916,455 (GRCm39)	T404A	probably benign	Het
Cd2ap	G	C	17: 43,119,690 (GRCm39)	H488D	probably damaging	Het
Cdon	A	G	9: 35,375,467 (GRCm39)	T498A	probably benign	Het
Cngb3	A	G	4: 19,396,786 (GRCm39)	N380D	probably benign	Het
Col6a5	G	A	9: 105,817,033 (GRCm39)	S426F	unknown	Het
Cr2	A	T	1: 194,848,122 (GRCm39)	H345Q	probably damaging	Het
Cttnbp2	T	A	6: 18,427,452 (GRCm39)	K743M	probably benign	Het
Depdc1b	T	C	13: 108,505,370 (GRCm39)	S245P	probably damaging	Het
Dync2h1	G	A	9: 7,124,825 (GRCm39)	H2016Y	probably benign	Het
Eif2s3y	G	T	Y: 1,012,079 (GRCm39)	R98L	probably benign	Het
Eml6	C	T	11: 29,753,167 (GRCm39)	G915S	probably damaging	Het
Fcgr1	A	G	3: 96,193,349 (GRCm39)	L216P	probably benign	Het
Fpr-rs3	T	C	17: 20,845,111 (GRCm39)	N10S	probably benign	Het
Frem3	T	C	8: 81,341,649 (GRCm39)	I1314T	possibly damaging	Het
Gabrr3	A	G	16: 59,253,864 (GRCm39)	N194D	probably damaging	Het
Hey1	A	G	3: 8,729,638 (GRCm39)	L273P	probably damaging	Het
Irf6	A	G	1: 192,850,857 (GRCm39)	K365E	probably benign	Het
Kit	A	G	5: 75,769,978 (GRCm39)	D130G	probably benign	Het
Lrp1	G	A	10: 127,389,265 (GRCm39)	A3217V	probably damaging	Het
Mei4	C	T	9: 81,809,336 (GRCm39)	R140C	probably benign	Het
Mir100hg	T	C	9: 41,501,570 (GRCm39)	L143P	probably damaging	Het
Mpo	A	T	11: 87,688,175 (GRCm39)	K278M	probably benign	Het
Mprip	T	C	11: 59,622,328 (GRCm39)		probably benign	Het
Mug2	G	C	6: 122,040,522 (GRCm39)	G691R	probably benign	Het
Neto2	G	A	8: 86,400,747 (GRCm39)	T16I	probably damaging	Het
Nipal4	C	T	11: 46,041,473 (GRCm39)	V241M	probably damaging	Het
Nlrp2	A	T	7: 5,330,551 (GRCm39)	L615*	probably null	Het
Pcdh1	A	G	18: 38,332,511 (GRCm39)	V164A	probably benign	Het
Phc2	T	C	4: 128,641,037 (GRCm39)		probably null	Het
Plekhg3	A	G	12: 76,620,133 (GRCm39)	E623G	probably damaging	Het
Psors1c2	G	T	17: 35,844,825 (GRCm39)	G29*	probably null	Het
Slc25a54	A	T	3: 109,019,479 (GRCm39)	D361V	probably damaging	Het
Slc39a12	A	T	2: 14,400,992 (GRCm39)	H123L	possibly damaging	Het
Sorl1	T	C	9: 41,900,764 (GRCm39)		probably null	Het
Strn	A	T	17: 78,965,369 (GRCm39)	I641N	probably damaging	Het
Tapbp	A	G	17: 34,139,457 (GRCm39)	E151G	possibly damaging	Het
Tnfrsf21	G	A	17: 43,348,901 (GRCm39)	C171Y	probably damaging	Het
Ttyh1	T	A	7: 4,132,317 (GRCm39)	L155H	probably damaging	Het
Utrn	T	A	10: 12,587,329 (GRCm39)		probably null	Het
Vmn1r175	A	G	7: 23,508,393 (GRCm39)	V78A	probably benign	Het
Vmn1r73	T	C	7: 11,490,682 (GRCm39)	Y167H	probably damaging	Het
Washc1	T	C	17: 66,425,123 (GRCm39)	S376P	probably damaging	Het
Wnt10a	T	A	1: 74,842,656 (GRCm39)		probably null	Het
Xrcc4	A	G	13: 90,219,752 (GRCm39)	V16A	probably benign	Het
Zeb1	T	C	18: 5,767,799 (GRCm39)	V770A	probably benign	Het
Zfp410	A	G	12: 84,385,527 (GRCm39)	N90S	probably 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
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

Predicted Primers

PCR Primer
(F):5'- TCTAATTATGTTTGGGAGAGGGAAC -3'
(R):5'- ATCAGACTCTCTGGGTGTGC -3'

Sequencing Primer
(F):5'- GGGAACAGGTCACTATTCTAGATTCC -3'
(R):5'- TGATGCAAATGGTGAGTTGTAACC -3'

Posted On

2015-04-17