Mutagenetix > Incidental Mutation

Incidental Mutation 'R7988:Repin1'

651585

Institutional Source

Beutler Lab

Gene Symbol

Repin1

Ensembl Gene

ENSMUSG00000052751

Gene Name

replication initiator 1

Synonyms

Zfp464, E430037F08Rik, AP4

MMRRC Submission

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7988 (G1)

Quality Score

225.009

Status

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: 99.7%
20x: 99.1%

Validation Efficiency

100% (59/59)

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: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
0610030E20Rik	C	T	6: 72,347,652	T56M	probably damaging	Het
2010111I01Rik	A	G	13: 63,061,140	D357G	probably benign	Het
4932415D10Rik	T	C	10: 82,296,100	I359V	probably benign	Het
Adamtsl5	C	T	10: 80,345,538	S36N	probably benign	Het
Adgrf5	A	T	17: 43,439,813		probably benign	Het
Ago1	A	G	4: 126,460,417	F200S	probably damaging	Het
Akr1cl	T	C	1: 65,024,706	D108G	possibly damaging	Het
Arhgef3	A	T	14: 27,401,786	D468V	probably benign	Het
Aspn	T	C	13: 49,551,877	C72R	possibly damaging	Het
Baz2b	T	C	2: 59,962,141	T548A	possibly damaging	Het
Birc6	G	A	17: 74,599,373		probably null	Het
Btnl2	A	T	17: 34,358,275	T135S	possibly damaging	Het
Ccnl1	T	A	3: 65,957,861	I90F	possibly damaging	Het
Ccnt1	T	C	15: 98,565,143		probably null	Het
Cemip	C	A	7: 84,003,408		probably benign	Het
Cfap45	A	G	1: 172,529,934	D85G	probably damaging	Het
Cfap54	T	A	10: 92,902,079	D2319V	unknown	Het
Cma1	T	C	14: 55,944,532	M14V	possibly damaging	Het
Cmtm1	T	C	8: 104,310,142		probably benign	Het
Col27a1	A	G	4: 63,331,322	H1738R	unknown	Het
Colq	T	A	14: 31,553,837	D41V	probably damaging	Het
Cubn	T	C	2: 13,332,355	T2437A	probably benign	Het
Dnah14	A	G	1: 181,783,574	D3755G	probably damaging	Het
Eprs	A	G	1: 185,418,348	Y1349C	probably damaging	Het
Eps8	C	T	6: 137,528,571	R53Q	possibly damaging	Het
Fam196a	T	G	7: 134,917,698	K368Q	probably damaging	Het
Fbf1	T	C	11: 116,152,768	D405G	probably benign	Het
Fen1	C	T	19: 10,200,310	E257K	possibly damaging	Het
Gstm7	A	T	3: 107,926,955	M198K	possibly damaging	Het
Hook3	A	T	8: 26,073,647	S190T	probably benign	Het
Htra4	A	C	8: 25,030,510		probably null	Het
Ighv1-15	T	C	12: 114,657,496	I70V	probably benign	Het
Ikzf4	T	A	10: 128,634,455	N452Y	probably damaging	Het
Iqcf5	T	A	9: 106,515,821	N92K	possibly damaging	Het
Itk	A	G	11: 46,355,834	Y186H	probably damaging	Het
Klhdc10	T	C	6: 30,446,691	S282P	probably benign	Het
Klhl18	T	A	9: 110,476,509	E29V	possibly damaging	Het
Ky	T	C	9: 102,525,415	S140P	probably damaging	Het
Lmntd2	T	C	7: 141,213,637	E112G	unknown	Het
Lrrc36	C	A	8: 105,452,086	D304E	possibly damaging	Het
Macf1	A	T	4: 123,506,480	F674Y	probably damaging	Het
Notch1	C	T	2: 26,471,001	D1111N	probably benign	Het
Osbpl8	T	G	10: 111,272,080	N312K	possibly damaging	Het
Otogl	C	T	10: 107,895,776	C168Y	probably damaging	Het
Phldb2	T	G	16: 45,825,571	T171P	probably benign	Het
Ppef2	A	T	5: 92,238,982	F365L	probably benign	Het
Ryr1	G	A	7: 29,096,171	T1105I	probably benign	Het
Sclt1	T	A	3: 41,663,454	*29L	probably null	Het
Scn11a	T	C	9: 119,765,437	K1297E	probably damaging	Het
Serpinb9c	T	A	13: 33,150,279	Y288F	probably benign	Het
Setd1a	T	A	7: 127,786,194	M691K	probably benign	Het
Sftpc	T	C	14: 70,522,619	E66G	probably damaging	Het
Thnsl2	T	C	6: 71,141,319	T42A	probably benign	Het
Tram1	T	C	1: 13,569,975	D285G	probably benign	Het
Ttn	A	T	2: 76,736,240	I28103K	probably damaging	Het
Ttn	G	A	2: 76,845,030	P11137L	unknown	Het
Ttn	C	A	2: 76,896,759	V5821F	unknown	Het
Usp38	T	A	8: 81,014,316	M41L	probably benign	Het
Zcwpw1	T	G	5: 137,817,491	Y419D	possibly damaging	Het
Zfp407	G	A	18: 84,559,400	A1196V	possibly damaging	Het
Zfp446	T	A	7: 12,979,043	S103T	possibly damaging	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
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
R8324: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'- CACATAGGGTTTCTCGCCTG -3'

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

Posted On

2020-09-15