Mutagenetix > Incidental Mutation

Incidental Mutation 'R6905:Ticrr'

538736

Institutional Source

Beutler Lab

Gene Symbol

Ticrr

Ensembl Gene

ENSMUSG00000046591

Gene Name

TOPBP1-interacting checkpoint and replication regulator

Synonyms

5730590G19Rik

MMRRC Submission

044997-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.949) question?

Stock #

R6905 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

79309944-79347896 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 79315598 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 284 (I284T)

Ref Sequence

ENSEMBL: ENSMUSP00000145735 (fasta)

Gene Model

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

AlphaFold

Q8BQ33

Predicted Effect

probably benign
Transcript: ENSMUST00000035977
AA Change: I284T

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000041377
Gene: ENSMUSG00000046591
AA Change: I284T

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
AA Change: I284T

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

Predicted Effect

probably benign
Transcript: ENSMUST00000206591
AA Change: I284T

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

Predicted Effect

probably benign
Transcript: ENSMUST00000206622
AA Change: I284T

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

Meta Mutation Damage Score

0.0846

Coding Region Coverage

1x: 100.0%
3x: 99.8%
10x: 99.0%
20x: 96.8%

Validation Efficiency

98% (44/45)

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: 45 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700025G04Rik	G	T	1: 151,856,189 (GRCm39)	N59K	probably damaging	Het
Abi3bp	A	G	16: 56,394,880 (GRCm39)	D196G	probably damaging	Het
Ankrd44	A	G	1: 54,831,653 (GRCm39)	F50S	probably damaging	Het
Arid4a	C	T	12: 71,108,318 (GRCm39)	A41V	probably benign	Het
Cdk11b	A	T	4: 155,726,065 (GRCm39)		probably benign	Het
Chrm5	C	A	2: 112,309,901 (GRCm39)	C405F	probably benign	Het
Cimip2a	A	G	2: 25,110,491 (GRCm39)	I100V	probably benign	Het
Col6a4	A	T	9: 105,937,517 (GRCm39)		probably null	Het
Copb1	A	C	7: 113,853,125 (GRCm39)	I24S	probably benign	Het
Ctsh	A	T	9: 89,944,819 (GRCm39)	K83N	probably damaging	Het
Dgkd	A	G	1: 87,863,097 (GRCm39)	E48G	probably damaging	Het
Dis3l2	A	G	1: 86,972,561 (GRCm39)	T657A	probably benign	Het
Flrt1	T	A	19: 7,072,757 (GRCm39)	K597*	probably null	Het
Ifit1bl2	T	C	19: 34,596,990 (GRCm39)	S209G	possibly damaging	Het
Ifrd2	T	C	9: 107,465,089 (GRCm39)	M1T	probably null	Het
Ighv8-12	T	C	12: 115,611,705 (GRCm39)	Y73C	probably benign	Het
Klhl21	C	A	4: 152,094,184 (GRCm39)	A262E	probably benign	Het
L3mbtl4	A	T	17: 69,084,883 (GRCm39)	Y598F	probably benign	Het
Lad1	A	G	1: 135,755,618 (GRCm39)	K298R	probably benign	Het
Map2k2	A	G	10: 80,944,701 (GRCm39)	D71G	probably damaging	Het
Megf8	T	A	7: 25,037,357 (GRCm39)	H752Q	probably benign	Het
Mms22l	A	T	4: 24,503,107 (GRCm39)	M200L	probably benign	Het
Mup5	C	A	4: 61,751,340 (GRCm39)	D103Y	possibly damaging	Het
Nes	C	T	3: 87,885,985 (GRCm39)	P1371S	probably damaging	Het
Or4c10b	A	T	2: 89,712,052 (GRCm39)	D294V	probably benign	Het
Or4f14c	A	T	2: 111,940,703 (GRCm39)	M298K	probably damaging	Het
Or52z14	A	T	7: 103,253,574 (GRCm39)	T238S	probably benign	Het
Osbpl3	T	C	6: 50,328,862 (GRCm39)	I114V	probably damaging	Het
Pank3	T	C	11: 35,667,239 (GRCm39)	Y119H	probably benign	Het
Pcdhb15	C	T	18: 37,607,748 (GRCm39)	L327F	possibly damaging	Het
Pnpla8	T	C	12: 44,330,336 (GRCm39)	V78A	probably damaging	Het
Rbm14	A	G	19: 4,853,264 (GRCm39)		probably benign	Het
Rev3l	G	A	10: 39,693,323 (GRCm39)	V468M	probably benign	Het
Ripk1	A	G	13: 34,211,973 (GRCm39)	I428V	probably benign	Het
Rps5	T	C	7: 12,659,785 (GRCm39)	V147A	probably damaging	Het
Rps6ka2	T	A	17: 7,495,340 (GRCm39)	I9N	probably damaging	Het
Samd9l	A	T	6: 3,375,387 (GRCm39)	F625I	probably damaging	Het
Sh3bp1	A	G	15: 78,789,230 (GRCm39)	D196G	probably benign	Het
Slc66a1	A	G	4: 139,033,752 (GRCm39)		probably null	Het
Smg7	A	T	1: 152,725,757 (GRCm39)		probably null	Het
Stap1	G	A	5: 86,238,781 (GRCm39)	E150K	possibly damaging	Het
Tm4sf1	T	C	3: 57,202,330 (GRCm39)		probably benign	Het
Traf4	C	T	11: 78,051,268 (GRCm39)	R296Q	probably benign	Het
Trav7d-4	G	T	14: 53,007,770 (GRCm39)	A88S	possibly damaging	Het
Vwde	T	C	6: 13,205,926 (GRCm39)	E207G	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
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
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'- AGACCATGTTGGATACTGGACAG -3'
(R):5'- TGCTAAAGAAACTGGAAGTATGCC -3'

Sequencing Primer
(F):5'- ACAGTGTGTGAGCTGCTACAC -3'
(R):5'- TCCAGAGGTCCTGAGTTCAAATC -3'

Posted On

2018-11-06