Mutagenetix > Incidental Mutation

Incidental Mutation 'R5980:Ticrr'

481384

Institutional Source

Beutler Lab

Gene Symbol

Ticrr

Ensembl Gene

ENSMUSG00000046591

Gene Name

TOPBP1-interacting checkpoint and replication regulator

Synonyms

5730590G19Rik

MMRRC Submission

044162-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.949) question?

Stock #

R5980 (G1)

Quality Score

192.009

Status

Validated

Chromosome

Chromosomal Location

79309944-79347896 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 79310703 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Threonine at position 206 (A206T)

Ref Sequence

ENSEMBL: ENSMUSP00000041377 (fasta)

Gene Model

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

AlphaFold

Q8BQ33

Predicted Effect

probably damaging
Transcript: ENSMUST00000035977
AA Change: A206T

PolyPhen 2 Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000041377
Gene: ENSMUSG00000046591
AA Change: A206T

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

noncoding transcript
Transcript: ENSMUST00000205750

Predicted Effect

probably benign
Transcript: ENSMUST00000206017
AA Change: A206T

PolyPhen 2 Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)

Predicted Effect

probably benign
Transcript: ENSMUST00000206591
AA Change: A206T

PolyPhen 2 Score 0.017 (Sensitivity: 0.95; Specificity: 0.80)

Predicted Effect

probably benign
Transcript: ENSMUST00000206622
AA Change: A206T

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)

Meta Mutation Damage Score

0.1129

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.6%
20x: 96.2%

Validation Efficiency

96% (50/52)

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
A2ml1	T	C	6: 128,544,018 (GRCm39)	N508D	possibly damaging	Het
Ago1	C	T	4: 126,354,362 (GRCm39)		probably benign	Het
Apol6	A	T	15: 76,935,219 (GRCm39)	T163S	possibly damaging	Het
Arhgap27	T	C	11: 103,247,095 (GRCm39)	T33A	probably benign	Het
Atg7	C	A	6: 114,657,197 (GRCm39)	F132L	possibly damaging	Het
Cep104	C	A	4: 154,072,930 (GRCm39)	A396E	probably benign	Het
Cers4	T	A	8: 4,568,269 (GRCm39)	C107*	probably null	Het
Cntn6	T	C	6: 104,825,093 (GRCm39)	S878P	probably damaging	Het
Dnah6	T	C	6: 73,158,705 (GRCm39)	K633E	probably benign	Het
Dst	T	A	1: 34,221,972 (GRCm39)	I2592K	probably benign	Het
Ep400	G	A	5: 110,881,595 (GRCm39)		probably benign	Het
Fbn1	A	G	2: 125,157,324 (GRCm39)	C2320R	probably damaging	Het
Gpi1	A	G	7: 33,928,351 (GRCm39)		probably null	Het
Gse1	T	G	8: 120,956,376 (GRCm39)		probably benign	Het
Hid1	G	A	11: 115,241,774 (GRCm39)	T612I	possibly damaging	Het
Ighmbp2	G	T	19: 3,315,295 (GRCm39)	H708Q	probably benign	Het
Igkv10-95	T	C	6: 68,657,573 (GRCm39)	S10P	probably damaging	Het
Igkv14-100	T	C	6: 68,496,009 (GRCm39)	V5A	probably benign	Het
Irgq	G	A	7: 24,232,770 (GRCm39)	G204S	probably damaging	Het
Kansl1	T	C	11: 104,234,463 (GRCm39)	K681R	possibly damaging	Het
Kcnv1	C	A	15: 44,972,810 (GRCm39)	V358L	probably damaging	Het
Lrp2	A	T	2: 69,365,349 (GRCm39)	S275T	probably damaging	Het
Lysmd1	A	T	3: 95,045,219 (GRCm39)	D155V	probably damaging	Het
Magel2	A	T	7: 62,030,344 (GRCm39)	I1083F	unknown	Het
Mta3	T	A	17: 84,015,834 (GRCm39)	V12D	probably damaging	Het
Mtmr4	T	C	11: 87,494,977 (GRCm39)	I423T	probably damaging	Het
Mup11	A	G	4: 60,616,887 (GRCm39)	Y16H	possibly damaging	Het
Mycbp	G	A	4: 123,804,889 (GRCm39)	V91I	probably benign	Het
Ngly1	A	C	14: 16,270,509 (GRCm38)	Q72P	possibly damaging	Het
Nol4	T	A	18: 23,085,258 (GRCm39)	Q52L	probably damaging	Het
Nrcam	T	C	12: 44,618,416 (GRCm39)	V808A	probably damaging	Het
Or10p22	A	G	10: 128,826,309 (GRCm39)	H176R	probably damaging	Het
Or5ak23	A	T	2: 85,244,509 (GRCm39)	F238Y	probably damaging	Het
Or8k24	A	T	2: 86,216,141 (GRCm39)	L207*	probably null	Het
Pate10	A	C	9: 35,652,911 (GRCm39)	D51A	probably damaging	Het
Pik3c2b	C	A	1: 133,016,046 (GRCm39)	D869E	probably benign	Het
Pom121l2	T	C	13: 22,167,546 (GRCm39)	S606P	probably damaging	Het
Prdm15	G	A	16: 97,613,770 (GRCm39)	R517*	probably null	Het
Ralgapa1	T	A	12: 55,817,401 (GRCm39)		probably null	Het
Saraf	T	A	8: 34,632,541 (GRCm39)	F207I	probably benign	Het
Sema6d	A	G	2: 124,506,628 (GRCm39)	D874G	probably damaging	Het
Sfrp5	A	T	19: 42,190,411 (GRCm39)	L14M	unknown	Het
Sidt1	A	T	16: 44,083,675 (GRCm39)	C485*	probably null	Het
Sptbn4	A	G	7: 27,071,596 (GRCm39)	Y1618H	probably damaging	Het
Syt14	T	C	1: 192,662,716 (GRCm39)	Q127R	possibly damaging	Het
Tbc1d2	C	T	4: 46,629,912 (GRCm39)	G252R	probably benign	Het
Tmem132d	T	A	5: 127,861,662 (GRCm39)	I820F	probably benign	Het
Trafd1	A	G	5: 121,511,520 (GRCm39)	Y433H	probably damaging	Het
Trim68	A	G	7: 102,328,038 (GRCm39)	V305A	probably damaging	Het
Vmn2r58	T	A	7: 41,514,480 (GRCm39)	Y163F	possibly damaging	Het
Vmn2r83	T	A	10: 79,314,626 (GRCm39)	H291Q	probably benign	Het
Vmn2r95	A	G	17: 18,661,624 (GRCm39)	I457V	probably benign	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
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'- TCAAGTTCTTCGACTCTCAGGG -3'
(R):5'- TGGAGGAACGCTGTCCTTTG -3'

Sequencing Primer
(F):5'- ATGGAGACGCTGCTCGACTAC -3'
(R):5'- GCTGTCCTTTGCGACCCG -3'

Posted On

2017-06-26