Mutagenetix > Incidental Mutation

Incidental Mutation 'R8324:Repin1'

643979

Institutional Source

Beutler Lab

Gene Symbol

Repin1

Ensembl Gene

ENSMUSG00000052751

Gene Name

replication initiator 1

Synonyms

Zfp464, E430037F08Rik, AP4

MMRRC Submission

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8324 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

48593883-48599082 bp(+) (GRCm38)

Type of Mutation

nonsense

DNA Base Change (assembly)

G to T at 48597345 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Stop codon at position 403 (E403*)

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

probably null
Transcript: ENSMUST00000009420
AA Change: E347*

SMART Domains

Protein: ENSMUSP00000009420
Gene: ENSMUSG00000052751
AA Change: E347*

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 null
Transcript: ENSMUST00000118229
AA Change: E400*

SMART Domains

Protein: ENSMUSP00000113548
Gene: ENSMUSG00000052751
AA Change: E400*

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 null
Transcript: ENSMUST00000135151
AA Change: E403*

SMART Domains

Protein: ENSMUSP00000118890
Gene: ENSMUSG00000052751
AA Change: E403*

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 null
Transcript: ENSMUST00000154010
AA Change: E347*

SMART Domains

Protein: ENSMUSP00000121975
Gene: ENSMUSG00000052751
AA Change: E347*

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

probably null
Transcript: ENSMUST00000163452
AA Change: E347*

SMART Domains

Protein: ENSMUSP00000132365
Gene: ENSMUSG00000052751
AA Change: E347*

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

Meta Mutation Damage Score

0.9647

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.6%

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: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca13	T	C	11: 9,290,395	S753P	probably damaging	Het
Acan	A	G	7: 79,091,056	E390G	probably damaging	Het
Antxr2	T	C	5: 97,938,509	N413S	probably damaging	Het
Bace2	C	T	16: 97,356,908	A36V	possibly damaging	Het
Caprin1	G	A	2: 103,783,181	R79*	probably null	Het
Cdan1	A	G	2: 120,727,325	V507A	probably benign	Het
Cdkl3	T	A	11: 52,022,879		probably null	Het
Chst5	A	T	8: 111,890,508	L160Q	probably benign	Het
Col11a1	C	G	3: 114,164,410	P1111R	probably damaging	Het
Col6a6	T	A	9: 105,755,654	E1470D	probably benign	Het
Cpped1	T	A	16: 11,805,476	T274S	probably benign	Het
Ctnnbl1	G	A	2: 157,779,815	E75K	probably damaging	Het
Cyp4f40	T	C	17: 32,659,528	S15P	probably benign	Het
Ddx46	T	C	13: 55,663,914	S643P	probably damaging	Het
Defb34	A	G	8: 19,123,798	Q16R	probably null	Het
Dhrs2	T	A	14: 55,238,764	V147E	probably damaging	Het
Dnah5	G	T	15: 28,346,865	R2498L	probably damaging	Het
Dpp10	T	A	1: 123,854,172	I93F	probably benign	Het
Eef1e1	T	A	13: 38,655,069	D104V	probably damaging	Het
Egfr	A	G	11: 16,858,971	Y55C	probably damaging	Het
Egfr	A	C	11: 16,908,885	I955L	probably damaging	Het
Ehbp1l1	C	A	19: 5,719,998	V426F	possibly damaging	Het
Fam234a	C	T	17: 26,218,698	V108I	probably benign	Het
Fzd8	T	A	18: 9,214,688	M590K	probably damaging	Het
Gm13287	T	C	4: 88,803,638	S129P	probably damaging	Het
Heatr5b	A	G	17: 78,755,364	S1919P	possibly damaging	Het
Hspg2	C	G	4: 137,518,979	P1023A	possibly damaging	Het
Ikbkap	C	T	4: 56,772,491	E877K	probably damaging	Het
Itpr2	T	C	6: 146,328,398	E1233G	probably damaging	Het
Kcnmb4	A	G	10: 116,418,314	L186P	probably damaging	Het
Krt72	T	A	15: 101,782,145	Y224F	probably damaging	Het
Loxhd1	T	C	18: 77,339,579		probably null	Het
Lrguk	A	G	6: 34,102,571	T914A	probably benign	Het
Lrrtm4	A	G	6: 80,021,991	T129A	probably damaging	Het
Mmp13	A	T	9: 7,276,636	I244F	possibly damaging	Het
Mob1a	T	A	6: 83,329,974	L41Q	probably damaging	Het
Mtcl1	T	C	17: 66,436,217	R426G	probably damaging	Het
Mybbp1a	T	C	11: 72,445,288		probably null	Het
Myh9	A	G	15: 77,788,917		probably null	Het
Myo1d	T	A	11: 80,557,521	D926V	probably damaging	Het
Ncapg	T	G	5: 45,695,668	H825Q	probably damaging	Het
Olfml1	T	C	7: 107,590,363	S212P	probably benign	Het
Olfr656	G	A	7: 104,618,114	R145H	probably benign	Het
Pak2	T	C	16: 32,052,211	N51S	probably benign	Het
Papln	T	C	12: 83,786,619	Y1132H	probably damaging	Het
Pax3	T	A	1: 78,193,789	R134S	probably damaging	Het
Pdzrn4	A	G	15: 92,770,937	E990G	probably damaging	Het
Peak1	A	T	9: 56,207,476	W1394R	probably damaging	Het
Pkn2	T	C	3: 142,829,010	N285D	probably benign	Het
Pramef12	A	C	4: 144,395,857	L39R	probably damaging	Het
Prrc2a	A	G	17: 35,156,984	S897P	possibly damaging	Het
Rad51	A	G	2: 119,123,831	T131A	possibly damaging	Het
Rc3h2	T	A	2: 37,400,726	T255S	possibly damaging	Het
Rictor	T	A	15: 6,745,562	V125E	probably damaging	Het
Rps6ka5	C	T	12: 100,558,487	D664N	possibly damaging	Het
Rreb1	T	A	13: 37,947,621	W1584R	probably damaging	Het
Rxra	T	C	2: 27,741,183	I142T	probably damaging	Het
Sall2	T	C	14: 52,312,886	T951A	probably benign	Het
Slc15a2	T	G	16: 36,759,307	N359T	probably damaging	Het
Slc23a1	C	T	18: 35,622,535	G436E	probably damaging	Het
Slc6a13	T	C	6: 121,337,414	*603Q	probably null	Het
Sptb	T	C	12: 76,619,162	D894G	possibly damaging	Het
Srgn	A	G	10: 62,507,665	L17P	probably damaging	Het
Tmprss9	T	C	10: 80,897,371		probably null	Het
Trav9n-4	T	C	14: 53,294,946	F86L	probably benign	Het
Trp63	A	G	16: 25,876,734	Y482C	unknown	Het
Ttc9b	G	T	7: 27,653,969	A15S	probably damaging	Het
Urb1	A	T	16: 90,791,190	I410N	probably damaging	Het
Vmn2r82	A	T	10: 79,378,893	K237*	probably null	Het
Wwox	G	A	8: 114,489,005		probably null	Het

Other mutations in Repin1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01100:Repin1	APN	6	48596905	missense	probably damaging	1.00
IGL01103:Repin1	APN	6	48597953	intron	probably benign
IGL02027:Repin1	APN	6	48596473	missense	probably damaging	1.00
IGL02143:Repin1	APN	6	48597121	missense	probably damaging	1.00
R0395:Repin1	UTSW	6	48597525	missense	probably damaging	1.00
R1233:Repin1	UTSW	6	48597834	missense	possibly damaging	0.72
R1743:Repin1	UTSW	6	48597750	missense	probably damaging	0.96
R2259:Repin1	UTSW	6	48596530	missense	probably benign	0.00
R4509:Repin1	UTSW	6	48596526	missense	possibly damaging	0.77
R5008:Repin1	UTSW	6	48596608	missense	probably damaging	1.00
R5009:Repin1	UTSW	6	48594845	intron	probably benign
R5425:Repin1	UTSW	6	48596431	missense	probably benign	0.18
R5829:Repin1	UTSW	6	48594832	intron	probably benign
R6350:Repin1	UTSW	6	48597628	missense	probably damaging	0.98
R6841:Repin1	UTSW	6	48597925	missense	possibly damaging	0.95
R6854:Repin1	UTSW	6	48593891	intron	probably benign
R7067:Repin1	UTSW	6	48597916	nonsense	probably null
R7636:Repin1	UTSW	6	48596365	missense	probably benign	0.00
R7699:Repin1	UTSW	6	48597822	missense	probably damaging	0.96
R7700:Repin1	UTSW	6	48597822	missense	probably damaging	0.96
R7747:Repin1	UTSW	6	48597345	nonsense	probably null
R7748:Repin1	UTSW	6	48597345	nonsense	probably null
R7781:Repin1	UTSW	6	48597345	nonsense	probably null
R7815:Repin1	UTSW	6	48597345	nonsense	probably null
R7820:Repin1	UTSW	6	48597345	nonsense	probably null
R7869:Repin1	UTSW	6	48597345	nonsense	probably null
R7988:Repin1	UTSW	6	48597345	nonsense	probably null
R7991:Repin1	UTSW	6	48597345	nonsense	probably null
R8078:Repin1	UTSW	6	48597345	nonsense	probably null
R8079:Repin1	UTSW	6	48597345	nonsense	probably null
R8080:Repin1	UTSW	6	48597345	nonsense	probably null
R8088:Repin1	UTSW	6	48597345	nonsense	probably null
R8089:Repin1	UTSW	6	48597345	nonsense	probably null
R8130:Repin1	UTSW	6	48597345	nonsense	probably null
R8131:Repin1	UTSW	6	48597345	nonsense	probably null
R8325:Repin1	UTSW	6	48597345	nonsense	probably null
R8342:Repin1	UTSW	6	48597345	nonsense	probably null
R8411:Repin1	UTSW	6	48597345	nonsense	probably null
R8488:Repin1	UTSW	6	48594018	missense	probably damaging	0.98
R8542:Repin1	UTSW	6	48597345	nonsense	probably null
R8543:Repin1	UTSW	6	48597345	nonsense	probably null
R8544:Repin1	UTSW	6	48597345	nonsense	probably null
R8697:Repin1	UTSW	6	48597345	nonsense	probably null
R8699:Repin1	UTSW	6	48597345	nonsense	probably null
R8701:Repin1	UTSW	6	48597345	nonsense	probably null
R8702:Repin1	UTSW	6	48597345	nonsense	probably null
R8731:Repin1	UTSW	6	48597345	nonsense	probably null
R8732:Repin1	UTSW	6	48597345	nonsense	probably null
R8780:Repin1	UTSW	6	48597139	missense	probably damaging	0.99
R8879:Repin1	UTSW	6	48597433	missense	possibly damaging	0.73
R9049:Repin1	UTSW	6	48597712	missense	possibly damaging	0.86
R9465:Repin1	UTSW	6	48594943	missense	probably benign	0.18

Predicted Primers

PCR Primer
(F):5'- GCATACATACCGGCGAGAAG -3'
(R):5'- CATAGGGTTTCTCGCCTGTG -3'

Sequencing Primer
(F):5'- TACCCATGCACCGAGTGTGG -3'
(R):5'- TGGCTGCCCTGTGAGAAAC -3'

Posted On

2020-09-02