Mutagenetix > Incidental Mutation

Incidental Mutation 'R1729:Rint1'

198893

Institutional Source

Beutler Lab

Gene Symbol

Rint1

Ensembl Gene

ENSMUSG00000028999

Gene Name

RAD50 interactor 1

Synonyms

2810450M21Rik, 1500019C06Rik

MMRRC Submission

039761-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R1729 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

23787711-23820369 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 23809843 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 352 (D352E)

Ref Sequence

ENSEMBL: ENSMUSP00000030852 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000030852] [ENSMUST00000115113]

AlphaFold

Q8BZ36

Predicted Effect

probably benign
Transcript: ENSMUST00000030852
AA Change: D352E

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)

SMART Domains

Protein: ENSMUSP00000030852
Gene: ENSMUSG00000028999
AA Change: D352E

Domain	Start	End	E-Value	Type
Pfam:RINT1_TIP1	304	784	2.3e-135	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000115113
AA Change: D294E

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000110766
Gene: ENSMUSG00000028999
AA Change: D294E

Domain	Start	End	E-Value	Type
Pfam:RINT1_TIP1	246	727	1.2e-161	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000124680

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000132260

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000144709

Coding Region Coverage

1x: 97.4%
3x: 96.8%
10x: 95.0%
20x: 91.6%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein first identified for its ability to interact with the RAD50 double strand break repair protein, with the resulting interaction implicated in the regulation of cell cycle progression and telomere length. The encoded protein may also play a role in trafficking of cellular cargo from the endosome to the trans-Golgi network. Mutations in this gene may be associated with breast cancer in human patients. [provided by RefSeq, Oct 2016]
PHENOTYPE: Mice homozygous for a mutant allele exhibit early embryonic lethality. Mice heterozygous for a mutant allele exhibit premature death with a life span of 24 months and increased multiple tumor incidence. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 225 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930447A16Rik	G	A	15: 37,439,600		probably benign	Het
4930453N24Rik	T	C	16: 64,769,022	I90V	probably damaging	Het
Aadat	A	G	8: 60,526,712	T203A	probably damaging	Het
Adamts17	C	T	7: 67,149,956	R1060*	probably null	Het
Adamts5	T	A	16: 85,877,915	K454*	probably null	Het
Adgrg6	T	C	10: 14,439,782	T593A	probably damaging	Het
Aldh1l2	T	A	10: 83,508,082	K377*	probably null	Het
Aldh4a1	A	G	4: 139,644,161	Y462C	probably damaging	Het
Ankrd12	G	T	17: 65,984,076	P1454Q	probably benign	Het
Ap2m1	T	A	16: 20,539,338	N35K	probably damaging	Het
Aspm	A	G	1: 139,473,574	I1111V	probably benign	Het
Atr	G	A	9: 95,897,581	V1331I	probably benign	Het
Boc	T	C	16: 44,496,419	T454A	probably benign	Het
C4bp	C	G	1: 130,642,988	V284L	probably benign	Het
Cacna1s	T	C	1: 136,118,716	F1761S	probably benign	Het
Camsap2	C	T	1: 136,281,315	R802Q	probably benign	Het
Capn9	G	A	8: 124,605,711	G430R	possibly damaging	Het
Car14	G	A	3: 95,901,248	P18L	possibly damaging	Het
Cbs	G	T	17: 31,620,949	A337E	probably benign	Het
Ccdc129	T	C	6: 55,968,541	F749S	probably benign	Het
Ccdc186	A	C	19: 56,809,220	H306Q	probably benign	Het
Ccdc93	C	T	1: 121,456,126	P192L	probably benign	Het
Ccdc93	T	C	1: 121,461,939	V237A	probably benign	Het
Cd55	C	T	1: 130,449,423	V333I	probably benign	Het
Cd55	C	A	1: 130,459,633	A143S	probably benign	Het
Cdh19	C	A	1: 110,893,384	E541D	probably damaging	Het
Cdh7	C	G	1: 110,065,735	L307V	possibly damaging	Het
Cdk12	T	C	11: 98,249,970		probably benign	Het
Cep350	A	T	1: 155,911,981	H1370Q	probably benign	Het
Cfh	T	C	1: 140,136,788	K374R	probably benign	Het
Cfh	C	T	1: 140,147,697	V268I	possibly damaging	Het
Cfhr2	A	G	1: 139,813,442	M265T	probably benign	Het
Cfhr2	A	C	1: 139,813,459	N259K	probably benign	Het
Chat	A	T	14: 32,446,795	L261H	probably damaging	Het
Chil1	C	T	1: 134,188,529	A250V	probably damaging	Het
Clcn1	T	A	6: 42,299,514	F360Y	possibly damaging	Het
Clgn	A	G	8: 83,423,030	S387G	probably damaging	Het
Clk1	C	T	1: 58,421,261	R70Q	probably damaging	Het
Cntnap5a	C	A	1: 116,455,004	L1001I	probably benign	Het
Cntnap5a	T	C	1: 116,455,101	L1033S	probably benign	Het
Cntnap5a	C	T	1: 116,455,143	T1047I	probably benign	Het
Crb1	T	C	1: 139,234,779	M1214V	probably benign	Het
Crb1	A	T	1: 139,237,622	H921Q	probably benign	Het
Crb1	G	A	1: 139,241,138	P881S	probably damaging	Het
Crb1	C	T	1: 139,242,995	G825R	probably damaging	Het
Crb1	C	T	1: 139,243,417	R684H	probably benign	Het
Cspg4	G	T	9: 56,898,537	V2211L	probably benign	Het
Cwh43	T	C	5: 73,408,218	L42P	probably damaging	Het
Cxcr4	C	T	1: 128,589,277	V216I	probably benign	Het
Cyb5r1	C	T	1: 134,407,667	R147W	probably damaging	Het
D830039M14Rik	C	T	10: 61,475,727		probably benign	Het
Ddx59	T	C	1: 136,417,053	V154A	probably benign	Het
Dhx30	T	C	9: 110,098,751	H101R	probably damaging	Het
Dnah11	T	A	12: 117,916,931	D3818V	probably damaging	Het
Dnah9	G	A	11: 66,085,020	T1401I	possibly damaging	Het
Dsel	T	C	1: 111,859,457	N1116S	probably benign	Het
Dsel	G	C	1: 111,859,994	T937S	probably benign	Het
Dstyk	C	T	1: 132,456,984	L739F	probably damaging	Het
Ehf	T	G	2: 103,273,906	T186P	possibly damaging	Het
Elf2	A	T	3: 51,257,572	V277D	probably damaging	Het
Etnk2	A	G	1: 133,363,923	S54G	probably benign	Het
Etnk2	C	A	1: 133,365,587	D89E	probably benign	Het
Etnk2	G	T	1: 133,365,765	G149W	probably damaging	Het
Etnk2	C	T	1: 133,365,816	R166*	probably null	Het
Etnk2	G	A	1: 133,365,817	R166Q	probably benign	Het
Etnk2	T	A	1: 133,376,915	V292E	probably benign	Het
Eya2	G	T	2: 165,687,663	G109W	probably damaging	Het
Fam208a	A	T	14: 27,479,633	N1367Y	probably damaging	Het
Fam72a	T	C	1: 131,530,668	I56T	probably benign	Het
Fam72a	C	T	1: 131,538,895	T139M	probably benign	Het
Fam78b	A	G	1: 167,001,630	D22G	possibly damaging	Het
Fastkd2	T	A	1: 63,751,300	C628*	probably null	Het
Fat3	A	C	9: 15,996,315	V2797G	possibly damaging	Het
Fcamr	A	C	1: 130,804,627	N117T	probably benign	Het
Fcamr	A	G	1: 130,811,580	I206V	probably benign	Het
Fcamr	G	A	1: 130,812,629	G262S	probably benign	Het
Fcamr	A	G	1: 130,812,692	I283V	probably benign	Het
Fcamr	T	C	1: 130,812,738	V298A	probably benign	Het
Fcamr	A	G	1: 130,812,809	M322V	probably benign	Het
Fcamr	C	T	1: 130,812,816	P324L	probably benign	Het
Fcamr	A	G	1: 130,814,597	N574D	probably benign	Het
Fcmr	A	G	1: 130,875,974	T172A	probably benign	Het
Fcmr	T	C	1: 130,878,269	S321P	probably benign	Het
Fut10	T	A	8: 31,201,390	S88T	probably benign	Het
Gabarap	C	T	11: 69,991,689		probably benign	Het
Gli2	C	T	1: 118,868,087	A113T	possibly damaging	Het
Gli2	G	T	1: 119,002,044	H44Q	probably benign	Het
Gm5346	T	C	8: 43,625,583	N535D	probably damaging	Het
Gon4l	T	A	3: 88,903,098	D1844E	probably damaging	Het
Gpr25	G	A	1: 136,260,710	P55L	probably benign	Het
Guk1	A	T	11: 59,185,312	V100E	probably damaging	Het
Ifi44l	T	C	3: 151,762,819	I25V	unknown	Het
Igfn1	G	A	1: 135,959,928	P2466L	probably damaging	Het
Igfn1	G	A	1: 135,968,199	A1543V	probably benign	Het
Igfn1	T	C	1: 135,970,411	S806G	probably benign	Het
Igfn1	C	T	1: 135,972,127	R482Q	probably benign	Het
Igfn1	C	T	1: 135,979,915	A231T	probably benign	Het
Igfn1	G	A	1: 135,982,475	R124W	probably benign	Het
Igfn1	T	C	1: 135,998,625	E29G	probably benign	Het
Igfn1	T	C	1: 135,998,683	I10V	unknown	Het
Ikbke	C	A	1: 131,265,937	A459S	probably benign	Het
Ikbke	T	C	1: 131,269,823	S447G	probably benign	Het
Ipo9	ATCCTCCTCCTCCTCCTC	ATCCTCCTCCTCCTCCTCCTC	1: 135,386,268		probably benign	Het
Ipo9	A	G	1: 135,402,250	V484A	probably benign	Het
Jarid2	T	A	13: 44,906,276	N661K	probably damaging	Het
Kcnt2	G	A	1: 140,354,547	S90N	probably benign	Het
Kif14	A	G	1: 136,468,279	N108D	probably benign	Het
Kif14	A	G	1: 136,468,975	K340E	probably damaging	Het
Kif14	G	A	1: 136,478,365	A556T	probably benign	Het
Kif14	A	G	1: 136,490,332	S868G	probably benign	Het
Kif14	C	T	1: 136,503,431	L1189F	probably benign	Het
Kif14	T	C	1: 136,515,961	F1291L	probably benign	Het
Kif14	T	C	1: 136,525,783	V1433A	probably benign	Het
Kif18b	A	G	11: 102,915,541		probably null	Het
Kif26a	T	C	12: 112,176,785	S1158P	possibly damaging	Het
Kmt2d	A	G	15: 98,865,132	C279R	probably damaging	Het
Kremen1	CGGG	CGGGGGG	11: 5,201,791		probably benign	Het
Krt23	A	T	11: 99,492,964	V34D	probably damaging	Het
Lad1	C	T	1: 135,827,381	P132S	possibly damaging	Het
Lad1	C	T	1: 135,828,023	R346C	probably damaging	Het
Lax1	T	C	1: 133,679,978	R342G	probably benign	Het
Lax1	T	C	1: 133,680,569	N145D	probably benign	Het
Lax1	G	A	1: 133,683,634	P67S	probably damaging	Het
Lgr6	C	T	1: 134,987,088	V641I	probably benign	Het
Lgr6	A	T	1: 134,988,009	S334T	probably benign	Het
Lgr6	G	T	1: 134,990,635	H263N	probably benign	Het
Lgr6	C	T	1: 135,003,476	S3N	probably benign	Het
Lmod1	C	T	1: 135,364,073	T222I	probably benign	Het
Mb21d2	A	G	16: 28,828,421	V267A	probably benign	Het
Megf10	T	C	18: 57,240,792		probably null	Het
Mfrp	A	G	9: 44,104,587	T334A	possibly damaging	Het
Miga2	A	G	2: 30,368,968	H63R	probably damaging	Het
Mrgbp	T	A	2: 180,585,449	N192K	probably damaging	Het
Mrgpra2b	A	G	7: 47,464,879	I35T	probably benign	Het
Mroh3	G	C	1: 136,192,144	Q440E	possibly damaging	Het
Mybph	C	T	1: 134,197,480	R249C	probably benign	Het
Nav1	A	T	1: 135,584,727	D198E	possibly damaging	Het
Ndufaf7	A	T	17: 78,937,629	K59M	probably damaging	Het
Necab3	T	C	2: 154,546,875	S208G	probably benign	Het
Nfrkb	C	T	9: 31,414,636	T1125M	probably benign	Het
Npnt	G	A	3: 132,914,397	Q112*	probably null	Het
Nr5a2	C	A	1: 136,952,125	R35L	probably benign	Het
Nrcam	A	G	12: 44,573,850	K893E	probably benign	Het
Obsl1	G	A	1: 75,486,756	T1764M	probably benign	Het
Olfr1240	C	T	2: 89,439,583	R232H	probably benign	Het
Olfr453	C	A	6: 42,744,135	L33M	possibly damaging	Het
Olfr870	A	T	9: 20,170,913	Y219*	probably null	Het
Optc	A	T	1: 133,903,796		probably null	Het
Optc	C	G	1: 133,905,170	S64T	probably benign	Het
Otoa	T	C	7: 121,125,439	V447A	probably benign	Het
Patj	G	A	4: 98,431,780	G428D	possibly damaging	Het
Pigr	C	T	1: 130,844,522	A159V	possibly damaging	Het
Pik3c2b	C	T	1: 133,066,627	P110S	probably benign	Het
Pkn2	G	A	3: 142,810,701	P555S	probably benign	Het
Pla2g12a	A	G	3: 129,894,940	E149G	probably benign	Het
Plec	C	A	15: 76,177,692	E2547*	probably null	Het
Plekha6	C	G	1: 133,287,846	T792S	probably benign	Het
Ppfia4	G	A	1: 134,299,321	P1159S	probably benign	Het
Prelp	C	T	1: 133,915,131	R92K	probably benign	Het
Ptpn7	A	G	1: 135,134,475	Q53R	probably benign	Het
Ptprc	T	G	1: 138,099,676	N478T	probably benign	Het
Ptprc	A	G	1: 138,107,823	S405P	probably benign	Het
Ptprc	C	A	1: 138,107,824	E402D	probably benign	Het
Ptprc	A	G	1: 138,107,837	V400A	probably benign	Het
Ptprc	T	C	1: 138,112,254	K212E	possibly damaging	Het
Rab29	A	G	1: 131,872,110	Q141R	probably benign	Het
Rab3gap1	T	G	1: 127,942,486	L948R	probably damaging	Het
Rbsn	A	T	6: 92,190,019	L548Q	possibly damaging	Het
Ren1	T	A	1: 133,354,206	W22R	probably damaging	Het
Ren1	C	T	1: 133,354,237	T32I	probably benign	Het
Ren1	A	T	1: 133,359,079	E315D	probably benign	Het
Ren1	C	G	1: 133,360,007	L360V	probably benign	Het
Rnpep	C	T	1: 135,263,096	A571T	possibly damaging	Het
Rnpep	G	C	1: 135,283,977	A11G	probably benign	Het
Sctr	T	C	1: 120,031,656	F110L	probably benign	Het
Sctr	G	T	1: 120,063,246	E453D	probably benign	Het
Sctr	G	A	1: 120,063,257	S440N	possibly damaging	Het
Sept4	A	T	11: 87,583,436	Q60L	probably benign	Het
Serpinb10	C	T	1: 107,538,473	S63F	probably damaging	Het
Serpinb2	G	A	1: 107,515,635	A55T	probably damaging	Het
Serpinb2	C	A	1: 107,523,834	A239E	probably benign	Het
Serpinb2	C	T	1: 107,523,890	H258Y	probably benign	Het
Serpinb2	C	T	1: 107,523,894	T259I	probably benign	Het
Serpinb2	A	C	1: 107,524,543	S284R	probably benign	Het
Serpinb8	A	G	1: 107,597,527	S20G	probably benign	Het
Serpinb8	G	A	1: 107,598,954	A75T	probably benign	Het
Serpinb8	A	C	1: 107,607,004	L268F	probably benign	Het
Slain2	A	G	5: 72,957,614	H396R	probably damaging	Het
Slc22a5	G	A	11: 53,866,351	P491L	probably damaging	Het
Slc26a4	A	G	12: 31,544,494	V285A	possibly damaging	Het
Slc26a9	C	T	1: 131,763,870	A617V	probably benign	Het
Slc26a9	C	A	1: 131,766,012	R747S	probably benign	Het
Slc9a8	T	C	2: 167,424,145	F14S	probably benign	Het
Spock3	T	C	8: 63,348,977	L330P	probably damaging	Het
Steap3	T	C	1: 120,227,750	N493S	probably benign	Het
Steap3	G	A	1: 120,234,378	A350V	probably benign	Het
Synpo2l	G	A	14: 20,665,819	P233S	probably damaging	Het
Tbc1d19	T	G	5: 53,829,372	I41S	probably damaging	Het
Tecta	G	A	9: 42,391,922	T138I	probably benign	Het
Thsd7b	C	T	1: 129,628,891	T328I	probably damaging	Het
Thsd7b	T	A	1: 129,667,937	F498Y	probably benign	Het
Thsd7b	G	C	1: 129,678,183	A554P	probably benign	Het
Thsd7b	A	C	1: 130,116,631	Q1116P	probably benign	Het
Tmem241	T	A	18: 12,068,312	H157L	probably damaging	Het
Tnfrsf25	T	A	4: 152,118,304		probably null	Het
Tnnt2	C	T	1: 135,845,506		probably benign	Het
Traf3ip3	T	A	1: 193,181,893	Q394L	probably benign	Het
Traf7	A	G	17: 24,512,379	F228L	probably damaging	Het
Trhr	A	G	15: 44,197,153	E23G	probably damaging	Het
Trim59	T	C	3: 69,036,853	T385A	probably benign	Het
Trove2	C	T	1: 143,760,014	V465I	probably benign	Het
Trove2	T	C	1: 143,760,034	D458G	probably benign	Het
Ttn	C	T	2: 76,813,339	G11436R	probably damaging	Het
Tubgcp2	T	C	7: 139,998,055	T779A	probably benign	Het
Tusc2	A	T	9: 107,564,631	I68F	probably damaging	Het
Ube2t	C	T	1: 134,972,167	A149V	probably benign	Het
Usp24	A	G	4: 106,360,421	N447S	possibly damaging	Het
Usp42	T	C	5: 143,714,626	D1214G	probably damaging	Het
Vmn2r73	T	C	7: 85,857,878	Y742C	probably damaging	Het
Wdfy4	A	T	14: 33,096,005	S1473T	possibly damaging	Het
Zan	C	A	5: 137,415,018		probably benign	Het
Zc3h11a	G	A	1: 133,622,154	P695S	probably benign	Het
Zfyve9	A	C	4: 108,718,501	V461G	possibly damaging	Het
Zp3r	A	G	1: 130,596,814	L164P	probably benign	Het
Zp3r	C	A	1: 130,619,414	E8D	possibly damaging	Het

Other mutations in Rint1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00087:Rint1	APN	5	23794431	missense	probably benign	0.00
IGL00596:Rint1	APN	5	23811865	missense	probably damaging	0.99
IGL01685:Rint1	APN	5	23787834	unclassified	probably benign
IGL02428:Rint1	APN	5	23794452	nonsense	probably null
IGL03007:Rint1	APN	5	23815701	missense	probably benign	0.00
IGL03280:Rint1	APN	5	23817078	missense	probably damaging	1.00
breakage	UTSW	5	23800722	missense	probably damaging	0.99
IGL02799:Rint1	UTSW	5	23819480	missense	possibly damaging	0.93
R0062:Rint1	UTSW	5	23787828	unclassified	probably benign
R0243:Rint1	UTSW	5	23816932	splice site	probably benign
R1102:Rint1	UTSW	5	23805567	splice site	probably benign
R1552:Rint1	UTSW	5	23800658	missense	probably benign	0.00
R1784:Rint1	UTSW	5	23809843	missense	probably benign	0.00
R2070:Rint1	UTSW	5	23810929	missense	possibly damaging	0.94
R2920:Rint1	UTSW	5	23805402	missense	probably benign	0.00
R3114:Rint1	UTSW	5	23819420	missense	probably benign	0.27
R4398:Rint1	UTSW	5	23794447	missense	possibly damaging	0.55
R4756:Rint1	UTSW	5	23809793	missense	probably damaging	1.00
R5246:Rint1	UTSW	5	23800811	missense	probably damaging	0.99
R5452:Rint1	UTSW	5	23794365	missense	probably benign	0.01
R5566:Rint1	UTSW	5	23810953	missense	probably damaging	1.00
R5709:Rint1	UTSW	5	23815833	missense	probably damaging	0.98
R6524:Rint1	UTSW	5	23815739	missense	probably benign	0.00
R7346:Rint1	UTSW	5	23815653	missense	possibly damaging	0.82
R7549:Rint1	UTSW	5	23815704	missense	probably benign
R7634:Rint1	UTSW	5	23805479	missense	probably benign	0.00
R7647:Rint1	UTSW	5	23800802	missense	probably damaging	1.00
R7885:Rint1	UTSW	5	23805644	missense	probably benign
R7895:Rint1	UTSW	5	23800722	missense	probably damaging	0.99
R8347:Rint1	UTSW	5	23811772	missense	probably damaging	1.00
R8791:Rint1	UTSW	5	23800596	missense	probably damaging	0.99
R8900:Rint1	UTSW	5	23811884	missense	possibly damaging	0.77
R8916:Rint1	UTSW	5	23787828	unclassified	probably benign
R8973:Rint1	UTSW	5	23811730	missense	probably benign	0.00
R9245:Rint1	UTSW	5	23805413	missense	probably benign
R9339:Rint1	UTSW	5	23788357	makesense	probably null
R9630:Rint1	UTSW	5	23815812	missense	possibly damaging	0.82
R9718:Rint1	UTSW	5	23800723	missense	possibly damaging	0.53
Z1088:Rint1	UTSW	5	23805314	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- GGCAGATGTTATACCAGCAAGCCAC -3'
(R):5'- TGCAGCTCCCTTTCAAACAGCAG -3'

Sequencing Primer
(F):5'- ccagcaagccacacctaatc -3'
(R):5'- GCTGTCATCGTAGAGCAGG -3'

Posted On

2014-05-23