Mutagenetix > Incidental Mutation

Incidental Mutation 'R7699:Repin1'

593849

Institutional Source

Beutler Lab

Gene Symbol

Repin1

Ensembl Gene

ENSMUSG00000052751

Gene Name

replication initiator 1

Synonyms

Zfp464, AP4, E430037F08Rik

MMRRC Submission

045760-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7699 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

48570817-48576016 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 48574756 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Threonine at position 562 (S562T)

Ref Sequence

ENSEMBL: ENSMUSP00000118890 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000009420] [ENSMUST00000118229] [ENSMUST00000135151] [ENSMUST00000154010] [ENSMUST00000163452] [ENSMUST00000204095] [ENSMUST00000204121] [ENSMUST00000204521]

AlphaFold

Q5U4E2

Predicted Effect

possibly damaging
Transcript: ENSMUST00000009420
AA Change: S506T

PolyPhen 2 Score 0.737 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000009420
Gene: ENSMUSG00000052751
AA Change: S506T

Domain	Start	End	E-Value	Type
ZnF_C2H2	52	72	3.47e1	SMART
ZnF_C2H2	80	102	5.81e-2	SMART
ZnF_C2H2	111	133	5.5e-3	SMART
ZnF_C2H2	140	160	1.16e1	SMART
ZnF_C2H2	172	194	3.89e-3	SMART
low complexity region	196	224	N/A	INTRINSIC
ZnF_C2H2	229	251	1.67e-2	SMART
ZnF_C2H2	257	279	4.94e-5	SMART
ZnF_C2H2	285	307	5.21e-4	SMART
ZnF_C2H2	353	375	4.72e-2	SMART
ZnF_C2H2	381	403	1.26e-2	SMART
ZnF_C2H2	409	431	1.79e-2	SMART
ZnF_C2H2	437	459	4.24e-4	SMART
ZnF_C2H2	465	487	6.52e-5	SMART
ZnF_C2H2	493	515	2.61e-4	SMART
ZnF_C2H2	521	543	1.45e-2	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000118229
AA Change: S559T

PolyPhen 2 Score 0.070 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000113548
Gene: ENSMUSG00000052751
AA Change: S559T

Domain	Start	End	E-Value	Type
ZnF_C2H2	52	72	3.47e1	SMART
ZnF_C2H2	80	102	5.81e-2	SMART
ZnF_C2H2	111	133	5.5e-3	SMART
ZnF_C2H2	140	160	1.16e1	SMART
ZnF_C2H2	172	194	3.89e-3	SMART
low complexity region	196	224	N/A	INTRINSIC
ZnF_C2H2	229	251	1.67e-2	SMART
ZnF_C2H2	257	279	4.94e-5	SMART
ZnF_C2H2	285	307	5.21e-4	SMART
ZnF_C2H2	353	375	4.72e-2	SMART
ZnF_C2H2	381	403	1.26e-2	SMART
ZnF_C2H2	409	431	1.79e-2	SMART
ZnF_C2H2	437	459	4.24e-4	SMART
ZnF_C2H2	465	487	6.52e-5	SMART
ZnF_C2H2	493	515	2.61e-4	SMART
ZnF_C2H2	521	543	1.45e-2	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000135151
AA Change: S562T

PolyPhen 2 Score 0.963 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000118890
Gene: ENSMUSG00000052751
AA Change: S562T

Domain	Start	End	E-Value	Type
ZnF_C2H2	52	72	3.47e1	SMART
ZnF_C2H2	80	102	5.81e-2	SMART
ZnF_C2H2	111	133	5.5e-3	SMART
ZnF_C2H2	140	160	1.16e1	SMART
ZnF_C2H2	172	194	3.89e-3	SMART
low complexity region	196	224	N/A	INTRINSIC
ZnF_C2H2	229	251	1.67e-2	SMART
ZnF_C2H2	257	279	4.94e-5	SMART
Pfam:zf-C2H2_6	284	300	1.4e-1	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000154010

SMART Domains

Protein: ENSMUSP00000121975
Gene: ENSMUSG00000052751

Domain	Start	End	E-Value	Type
ZnF_C2H2	52	72	3.47e1	SMART
ZnF_C2H2	80	102	5.81e-2	SMART
ZnF_C2H2	111	133	5.5e-3	SMART
ZnF_C2H2	140	160	1.16e1	SMART
ZnF_C2H2	172	194	3.89e-3	SMART
low complexity region	196	224	N/A	INTRINSIC
ZnF_C2H2	229	251	1.67e-2	SMART
ZnF_C2H2	257	279	4.94e-5	SMART
ZnF_C2H2	285	307	5.21e-4	SMART

Predicted Effect

possibly damaging
Transcript: ENSMUST00000163452
AA Change: S506T

PolyPhen 2 Score 0.737 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000132365
Gene: ENSMUSG00000052751
AA Change: S506T

Domain	Start	End	E-Value	Type
ZnF_C2H2	52	72	3.47e1	SMART
ZnF_C2H2	80	102	5.81e-2	SMART
ZnF_C2H2	111	133	5.5e-3	SMART
ZnF_C2H2	140	160	1.16e1	SMART
ZnF_C2H2	172	194	3.89e-3	SMART
low complexity region	196	224	N/A	INTRINSIC
ZnF_C2H2	229	251	1.67e-2	SMART
ZnF_C2H2	257	279	4.94e-5	SMART
ZnF_C2H2	285	307	5.21e-4	SMART
ZnF_C2H2	353	375	4.72e-2	SMART
ZnF_C2H2	381	403	1.26e-2	SMART
ZnF_C2H2	409	431	1.79e-2	SMART
ZnF_C2H2	437	459	4.24e-4	SMART
ZnF_C2H2	465	487	6.52e-5	SMART
ZnF_C2H2	493	515	2.61e-4	SMART
ZnF_C2H2	521	543	1.45e-2	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000204095

SMART Domains

Protein: ENSMUSP00000145192
Gene: ENSMUSG00000007216

Domain	Start	End	E-Value	Type
low complexity region	86	102	N/A	INTRINSIC
ZnF_C2H2	104	126	7.9e-4	SMART
ZnF_C2H2	132	154	1.69e-3	SMART
ZnF_C2H2	160	182	2.36e-2	SMART
ZnF_C2H2	188	210	4.11e-2	SMART
ZnF_C2H2	279	301	1.84e-4	SMART
ZnF_C2H2	307	329	4.94e-5	SMART
ZnF_C2H2	335	357	2.95e-3	SMART
ZnF_C2H2	364	386	1.36e-2	SMART
ZnF_C2H2	446	468	1.3e-4	SMART
ZnF_C2H2	474	496	2.12e-4	SMART
ZnF_C2H2	502	524	5.5e-3	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000204121

Predicted Effect

probably benign
Transcript: ENSMUST00000204521

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.1%

Validation Efficiency

MGI Phenotype

PHENOTYPE: Mice homozygous for a knock-out allele improves in insulin sensitivity and glucose metabolism in Lepr^db homozygotes. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 80 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1810009A15Rik	T	C	19: 8,867,417 (GRCm39)	L72P	probably benign	Het
4930407I10Rik	C	A	15: 81,948,306 (GRCm39)	H734Q	probably benign	Het
Acadl	A	G	1: 66,877,522 (GRCm39)	V343A	possibly damaging	Het
Acot4	A	T	12: 84,090,011 (GRCm39)	D236V	probably damaging	Het
App	T	A	16: 84,837,197 (GRCm39)		probably null	Het
Arfgef1	G	A	1: 10,264,636 (GRCm39)	T470I	possibly damaging	Het
Arhgef5	T	C	6: 43,251,691 (GRCm39)	I814T	probably benign	Het
Atr	A	T	9: 95,757,743 (GRCm39)	R968*	probably null	Het
Bltp1	T	A	3: 37,028,321 (GRCm39)	N2329K	possibly damaging	Het
Bltp1	C	T	3: 37,080,303 (GRCm39)	S267L	probably benign	Het
Capn7	C	T	14: 31,074,401 (GRCm39)	T268I	probably benign	Het
Ccn1	C	T	3: 145,354,447 (GRCm39)	G155R	probably damaging	Het
Cubn	A	T	2: 13,352,989 (GRCm39)	F1916L	probably benign	Het
Cubn	A	G	2: 13,494,728 (GRCm39)	V107A	possibly damaging	Het
Cyp11b1	T	A	15: 74,707,691 (GRCm39)	T473S	probably damaging	Het
Dip2c	T	G	13: 9,709,347 (GRCm39)	S1396A	probably benign	Het
Dyrk1b	T	C	7: 27,883,737 (GRCm39)	Y198H	probably damaging	Het
Echdc2	G	T	4: 108,031,274 (GRCm39)	R206L	probably benign	Het
Ep400	C	T	5: 110,843,898 (GRCm39)	R1594Q	unknown	Het
Fmnl2	G	A	2: 52,926,520 (GRCm39)	R69Q		Het
Fry	T	A	5: 150,328,792 (GRCm39)	H1308Q	probably damaging	Het
Fyb2	T	A	4: 104,867,651 (GRCm39)	D667E	probably benign	Het
Gimap7	T	A	6: 48,700,791 (GRCm39)	Y126N	possibly damaging	Het
Gm1979	A	T	5: 26,205,178 (GRCm39)	W266R	probably damaging	Het
Gm28042	T	A	2: 119,870,197 (GRCm39)	M712K	possibly damaging	Het
Gm3238	A	G	10: 77,606,469 (GRCm39)	*231R	probably null	Het
Gm5592	C	A	7: 40,935,831 (GRCm39)	A111E	probably damaging	Het
Gm7694	A	G	1: 170,128,717 (GRCm39)	*271Q	probably null	Het
Ift81	T	C	5: 122,732,623 (GRCm39)	M304V	possibly damaging	Het
Igfals	T	C	17: 25,099,548 (GRCm39)	L213P	probably damaging	Het
Ints3	G	A	3: 90,329,111 (GRCm39)	P83S	probably benign	Het
Kcna10	T	G	3: 107,102,856 (GRCm39)	S496A	probably damaging	Het
Kmt2d	G	A	15: 98,741,600 (GRCm39)	A4520V	unknown	Het
Lemd3	A	T	10: 120,813,995 (GRCm39)	Y413N	probably damaging	Het
Lgr6	T	C	1: 134,923,770 (GRCm39)	N453S	probably damaging	Het
Lmtk3	A	C	7: 45,441,998 (GRCm39)	D352A	probably damaging	Het
Lrrc4c	T	C	2: 97,461,024 (GRCm39)	M550T	possibly damaging	Het
Maml2	A	T	9: 13,532,385 (GRCm39)	Q533L		Het
Mdn1	T	A	4: 32,741,344 (GRCm39)	D3815E	probably damaging	Het
Megf8	C	T	7: 25,029,353 (GRCm39)	A299V	possibly damaging	Het
Meis3	G	T	7: 15,911,481 (GRCm39)	E59D	probably benign	Het
Mppe1	A	G	18: 67,358,775 (GRCm39)	*398R	probably null	Het
Mtmr7	G	A	8: 41,059,927 (GRCm39)	A62V	possibly damaging	Het
Mtus1	T	A	8: 41,537,006 (GRCm39)	T237S	possibly damaging	Het
Ndfip2	T	A	14: 105,525,193 (GRCm39)	V158E	possibly damaging	Het
Nrbp2	T	G	15: 75,962,746 (GRCm39)	T53P	probably damaging	Het
Nrde2	G	A	12: 100,097,094 (GRCm39)	P902L	probably benign	Het
Or10ab5	T	A	7: 108,244,879 (GRCm39)	K301N	probably damaging	Het
Or11g24	T	A	14: 50,662,792 (GRCm39)	M272K	probably benign	Het
Or2y13	A	G	11: 49,415,381 (GRCm39)	Y277C	probably damaging	Het
Or51a10	T	A	7: 103,699,800 (GRCm39)		probably benign	Het
Or6c202	T	C	10: 128,995,924 (GRCm39)	M310V	probably benign	Het
Pcdha1	A	G	18: 37,064,115 (GRCm39)	T260A	probably damaging	Het
Pdlim1	T	G	19: 40,238,102 (GRCm39)	K98N	probably damaging	Het
Phrf1	G	A	7: 140,834,842 (GRCm39)	G207R	unknown	Het
Pik3r6	A	G	11: 68,419,389 (GRCm39)	K124R	probably damaging	Het
Polr2b	T	A	5: 77,488,268 (GRCm39)	F823I	probably benign	Het
Prss58	T	C	6: 40,872,322 (GRCm39)	I234V	probably damaging	Het
Ptpn14	A	T	1: 189,597,608 (GRCm39)	N766I	probably benign	Het
Qrfprl	T	A	6: 65,429,940 (GRCm39)	I212N	probably benign	Het
Rgr	C	T	14: 36,766,552 (GRCm39)	D165N	probably damaging	Het
Rho	T	C	6: 115,912,200 (GRCm39)	F221L	probably damaging	Het
Rictor	C	T	15: 6,801,635 (GRCm39)	S441L	probably benign	Het
Rnase2a	A	G	14: 51,493,248 (GRCm39)	I39T	probably damaging	Het
Rpl13a	T	G	7: 44,776,660 (GRCm39)	I43L	probably benign	Het
Rpp30	T	C	19: 36,066,558 (GRCm39)	V97A	probably benign	Het
Scube3	T	C	17: 28,386,023 (GRCm39)	Y755H	probably damaging	Het
Sec24a	A	T	11: 51,603,084 (GRCm39)	V788E	probably damaging	Het
Spns2	A	T	11: 72,380,443 (GRCm39)	L60*	probably null	Het
Strc	T	C	2: 121,202,229 (GRCm39)	N1213S	possibly damaging	Het
Tec	A	T	5: 72,943,367 (GRCm39)	I116N	possibly damaging	Het
Tll1	A	T	8: 64,546,988 (GRCm39)	D319E	probably benign	Het
Tmem121b	T	C	6: 120,470,388 (GRCm39)	T110A	unknown	Het
Tmem232	T	A	17: 65,572,213 (GRCm39)	I593F	probably damaging	Het
Tpp2	A	G	1: 44,009,626 (GRCm39)	I487V	probably benign	Het
Ubr4	C	A	4: 139,136,178 (GRCm39)	C934*	probably null	Het
Vmn1r68	A	G	7: 10,261,559 (GRCm39)	Y180H	probably benign	Het
Vmn2r25	T	C	6: 123,816,882 (GRCm39)	D233G	possibly damaging	Het
Wdr6	A	G	9: 108,453,560 (GRCm39)	W108R	possibly damaging	Het
Zng1	A	G	19: 24,920,045 (GRCm39)		probably null	Het

Other mutations in Repin1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01100:Repin1	APN	6	48,573,839 (GRCm39)	missense	probably damaging	1.00
IGL01103:Repin1	APN	6	48,574,887 (GRCm39)	intron	probably benign
IGL02027:Repin1	APN	6	48,573,407 (GRCm39)	missense	probably damaging	1.00
IGL02143:Repin1	APN	6	48,574,055 (GRCm39)	missense	probably damaging	1.00
R0395:Repin1	UTSW	6	48,574,459 (GRCm39)	missense	probably damaging	1.00
R1233:Repin1	UTSW	6	48,574,768 (GRCm39)	missense	possibly damaging	0.72
R1743:Repin1	UTSW	6	48,574,684 (GRCm39)	missense	probably damaging	0.96
R2259:Repin1	UTSW	6	48,573,464 (GRCm39)	missense	probably benign	0.00
R4509:Repin1	UTSW	6	48,573,460 (GRCm39)	missense	possibly damaging	0.77
R5008:Repin1	UTSW	6	48,573,542 (GRCm39)	missense	probably damaging	1.00
R5009:Repin1	UTSW	6	48,571,779 (GRCm39)	intron	probably benign
R5425:Repin1	UTSW	6	48,573,365 (GRCm39)	missense	probably benign	0.18
R5829:Repin1	UTSW	6	48,571,766 (GRCm39)	intron	probably benign
R6350:Repin1	UTSW	6	48,574,562 (GRCm39)	missense	probably damaging	0.98
R6841:Repin1	UTSW	6	48,574,859 (GRCm39)	missense	possibly damaging	0.95
R6854:Repin1	UTSW	6	48,570,825 (GRCm39)	intron	probably benign
R7067:Repin1	UTSW	6	48,574,850 (GRCm39)	nonsense	probably null
R7636:Repin1	UTSW	6	48,573,299 (GRCm39)	missense	probably benign	0.00
R7700:Repin1	UTSW	6	48,574,756 (GRCm39)	missense	probably damaging	0.96
R7747:Repin1	UTSW	6	48,574,279 (GRCm39)	nonsense	probably null
R7748:Repin1	UTSW	6	48,574,279 (GRCm39)	nonsense	probably null
R7781:Repin1	UTSW	6	48,574,279 (GRCm39)	nonsense	probably null
R7815:Repin1	UTSW	6	48,574,279 (GRCm39)	nonsense	probably null
R7820:Repin1	UTSW	6	48,574,279 (GRCm39)	nonsense	probably null
R7869:Repin1	UTSW	6	48,574,279 (GRCm39)	nonsense	probably null
R7988:Repin1	UTSW	6	48,574,279 (GRCm39)	nonsense	probably null
R7991:Repin1	UTSW	6	48,574,279 (GRCm39)	nonsense	probably null
R8078:Repin1	UTSW	6	48,574,279 (GRCm39)	nonsense	probably null
R8079:Repin1	UTSW	6	48,574,279 (GRCm39)	nonsense	probably null
R8080:Repin1	UTSW	6	48,574,279 (GRCm39)	nonsense	probably null
R8088:Repin1	UTSW	6	48,574,279 (GRCm39)	nonsense	probably null
R8089:Repin1	UTSW	6	48,574,279 (GRCm39)	nonsense	probably null
R8130:Repin1	UTSW	6	48,574,279 (GRCm39)	nonsense	probably null
R8131:Repin1	UTSW	6	48,574,279 (GRCm39)	nonsense	probably null
R8324:Repin1	UTSW	6	48,574,279 (GRCm39)	nonsense	probably null
R8325:Repin1	UTSW	6	48,574,279 (GRCm39)	nonsense	probably null
R8342:Repin1	UTSW	6	48,574,279 (GRCm39)	nonsense	probably null
R8411:Repin1	UTSW	6	48,574,279 (GRCm39)	nonsense	probably null
R8488:Repin1	UTSW	6	48,570,952 (GRCm39)	missense	probably damaging	0.98
R8542:Repin1	UTSW	6	48,574,279 (GRCm39)	nonsense	probably null
R8543:Repin1	UTSW	6	48,574,279 (GRCm39)	nonsense	probably null
R8544:Repin1	UTSW	6	48,574,279 (GRCm39)	nonsense	probably null
R8697:Repin1	UTSW	6	48,574,279 (GRCm39)	nonsense	probably null
R8699:Repin1	UTSW	6	48,574,279 (GRCm39)	nonsense	probably null
R8701:Repin1	UTSW	6	48,574,279 (GRCm39)	nonsense	probably null
R8702:Repin1	UTSW	6	48,574,279 (GRCm39)	nonsense	probably null
R8731:Repin1	UTSW	6	48,574,279 (GRCm39)	nonsense	probably null
R8732:Repin1	UTSW	6	48,574,279 (GRCm39)	nonsense	probably null
R8780:Repin1	UTSW	6	48,574,073 (GRCm39)	missense	probably damaging	0.99
R8879:Repin1	UTSW	6	48,574,367 (GRCm39)	missense	possibly damaging	0.73
R9049:Repin1	UTSW	6	48,574,646 (GRCm39)	missense	possibly damaging	0.86
R9465:Repin1	UTSW	6	48,571,877 (GRCm39)	missense	probably benign	0.18

Predicted Primers

PCR Primer
(F):5'- TGGCAAGAACTTCGGCAAG -3'
(R):5'- CCCTGTTGCCAAGGATATCC -3'

Sequencing Primer
(F):5'- TTTCTCACAGGGCAGCCAC -3'
(R):5'- AAGGATATCCAGGCCTGTCTTC -3'

Posted On

2019-11-12