Mutagenetix > Incidental Mutation

Incidental Mutation 'R8732:Repin1'

662799

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 #

R8732 (G1)

Quality Score

95.0077

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: 99.3%
20x: 97.0%

Validation Efficiency

98% (63/64)

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: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adtrp	A	T	13: 41,828,146	N82K	probably damaging	Het
Ankrd36	T	A	11: 5,628,906	S57T	possibly damaging	Het
Aoc3	A	G	11: 101,331,817	N293S	probably benign	Het
Aup1	A	T	6: 83,056,621	H302L	probably damaging	Het
Bptf	G	A	11: 107,040,380	R277W	probably damaging	Het
Cald1	A	G	6: 34,758,011	I346V	unknown	Het
Cd44	T	C	2: 102,834,300	T519A	possibly damaging	Het
Cela1	A	G	15: 100,682,885		probably null	Het
Ces2g	T	C	8: 104,962,563	V57A	possibly damaging	Het
Cpt1b	G	C	15: 89,424,425	T100S	probably benign	Het
D6Wsu163e	A	T	6: 126,955,896	I361F	possibly damaging	Het
Dock5	A	T	14: 67,846,000	D153E	possibly damaging	Het
Dync2h1	G	T	9: 7,168,326	R430S	probably damaging	Het
Eml5	C	T	12: 98,815,959	G1405R	probably damaging	Het
Ergic2	G	A	6: 148,201,477	A91V	probably damaging	Het
Fancl	A	T	11: 26,469,754	I336L	probably benign	Het
Fpr3	A	G	17: 17,970,961	T165A	possibly damaging	Het
Gm11639	T	A	11: 104,804,274	F1730L	probably benign	Het
Gon4l	A	G	3: 88,899,984	I1662V	possibly damaging	Het
Gpr153	C	T	4: 152,279,101		probably benign	Het
Hdac4	C	A	1: 91,947,517	A911S	probably damaging	Het
Ighd	T	C	12: 113,414,563	N139D		Het
Klhl22	T	A	16: 17,771,826	L117Q	probably damaging	Het
Kntc1	A	G	5: 123,790,117	S1226G	probably benign	Het
Lama5	A	T	2: 180,186,688	C2126S	probably damaging	Het
Ldlr	A	G	9: 21,739,689	I468V	probably benign	Het
Lmtk3	G	A	7: 45,798,288	A1253T	unknown	Het
Lta	T	A	17: 35,204,069	N93Y	probably damaging	Het
Macf1	A	T	4: 123,509,770		probably null	Het
Mink1	A	G	11: 70,610,076		probably null	Het
Myl10	G	C	5: 136,697,971	V70L	probably benign	Het
Ntpcr	A	G	8: 125,745,335	M132V	probably benign	Het
Olfr298	A	G	7: 86,488,853	S233P	probably damaging	Het
Olfr664	A	G	7: 104,733,908	M152T	probably benign	Het
Olfr851	T	C	9: 19,496,802	I18T	probably benign	Het
Padi2	A	G	4: 140,933,279	I357V	probably benign	Het
Pax7	G	T	4: 139,779,609	H372Q	probably benign	Het
Paxip1	A	G	5: 27,744,543	Y966H	probably damaging	Het
Pde4b	A	C	4: 102,555,625	D199A	probably null	Het
Pkd1l2	T	C	8: 117,065,572	N494D	probably benign	Het
Prdm2	G	T	4: 143,136,010	Q237K	probably benign	Het
Prune2	T	C	19: 17,120,405	L1091P	probably damaging	Het
Rab9	C	T	X: 166,457,758	D186N	probably benign	Het
Rassf5	A	G	1: 131,178,527	*414Q	probably null	Het
Rrp9	C	A	9: 106,483,189	T238K	probably benign	Het
Slc44a2	A	G	9: 21,348,586	D630G	probably benign	Het
Slc7a9	A	G	7: 35,457,018	D295G	probably benign	Het
Slco3a1	A	T	7: 74,284,306	M706K	possibly damaging	Het
Spag9	T	C	11: 94,071,688		probably null	Het
Stam2	A	T	2: 52,700,168	Y394N	probably damaging	Het
Stard9	T	C	2: 120,679,961	L341P	probably damaging	Het
Steap3	A	T	1: 120,243,894	H160Q	probably damaging	Het
Stxbp5l	A	T	16: 37,241,447	C334S	probably benign	Het
Tcof1	G	C	18: 60,829,051	A702G	possibly damaging	Het
Thap1	CAGCATCTGCTCGGAGCA	CAGCA	8: 26,160,856		probably null	Het
Tmem74	A	T	15: 43,868,060		probably benign	Het
Ttn	T	C	2: 76,707,136	K34816R	possibly damaging	Het
Ttn	T	A	2: 76,797,391	N14736I	probably damaging	Het
Vmn1r183	A	G	7: 24,055,465	Q231R	possibly damaging	Het
Vmn1r235	A	G	17: 21,262,177	T255A	probably damaging	Het
Wasl	A	T	6: 24,619,210	I437K	unknown	Het
Wdr34	T	A	2: 30,032,208	T414S	possibly damaging	Het
Ywhae	A	G	11: 75,751,943	N43D	probably damaging	Het
Zfp583	A	T	7: 6,317,211	Y267*	probably null	Het
Zfp608	C	T	18: 54,988,000	G172R	probably benign	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
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
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'- ACATAGGGTTTCTCGCCTGTG -3'

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

Posted On

2021-03-08