Mutagenetix > Incidental Mutation

Incidental Mutation 'R1552:Rint1'

169992

Institutional Source

Beutler Lab

Gene Symbol

Rint1

Ensembl Gene

ENSMUSG00000028999

Gene Name

RAD50 interactor 1

Synonyms

2810450M21Rik, 1500019C06Rik

MMRRC Submission

039591-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R1552 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

23787711-23820369 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 23800658 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Threonine at position 113 (S113T)

Ref Sequence

ENSEMBL: ENSMUSP00000110766 (fasta)

Gene Model

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

AlphaFold

Q8BZ36

Predicted Effect

probably benign
Transcript: ENSMUST00000030852
AA Change: S113T

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)

SMART Domains

Protein: ENSMUSP00000030852
Gene: ENSMUSG00000028999
AA Change: S113T

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000112256

Predicted Effect

probably benign
Transcript: ENSMUST00000115113
AA Change: S113T

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)

SMART Domains

Protein: ENSMUSP00000110766
Gene: ENSMUSG00000028999
AA Change: S113T

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000124680

Meta Mutation Damage Score

0.0750

Coding Region Coverage

1x: 99.1%
3x: 98.3%
10x: 96.1%
20x: 91.7%

Validation Efficiency

97% (71/73)

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: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1810046K07Rik	T	A	9: 51,291,570	S95C	probably damaging	Het
Abcc5	T	A	16: 20,398,867	I365F	probably damaging	Het
Abhd15	T	C	11: 77,515,407	L70P	probably damaging	Het
Adam18	A	C	8: 24,646,361	H381Q	probably benign	Het
Ankfy1	T	C	11: 72,754,495		probably null	Het
Arcn1	C	T	9: 44,758,994	A112T	probably damaging	Het
Calhm1	C	T	19: 47,141,201	R294H	probably benign	Het
Ccdc121	A	G	1: 181,510,991	L132P	probably damaging	Het
Cdk5rap1	T	C	2: 154,370,695	E81G	probably benign	Het
Cep170	T	C	1: 176,782,494		probably benign	Het
Cep350	C	T	1: 155,910,738	R1454Q	possibly damaging	Het
Chrna3	C	A	9: 55,015,908	E205D	probably benign	Het
Chst5	T	C	8: 111,890,280	D236G	probably damaging	Het
Coro1a	T	C	7: 126,699,952	N367D	probably benign	Het
Cyp3a16	T	C	5: 145,436,536	I474V	probably benign	Het
Cyth3	G	A	5: 143,697,750	V87I	probably benign	Het
Dclk3	C	A	9: 111,488,579	T761K	probably damaging	Het
Dvl2	T	A	11: 70,006,372	M300K	possibly damaging	Het
Eefsec	C	T	6: 88,376,200		probably benign	Het
Exog	T	C	9: 119,445,110	S54P	unknown	Het
Fasn	A	G	11: 120,818,558	S519P	probably damaging	Het
Gas8	G	A	8: 123,520,646	A16T	probably benign	Het
Got2	A	G	8: 95,869,494	S333P	probably benign	Het
Hadhb	T	A	5: 30,176,933	L287Q	probably null	Het
Ift57	A	G	16: 49,759,353	T211A	probably benign	Het
Il1rap	A	G	16: 26,722,434	E475G	possibly damaging	Het
Ilkap	A	T	1: 91,384,594	D11E	probably damaging	Het
Impact	T	C	18: 12,984,280	S137P	probably benign	Het
Jarid2	T	C	13: 44,911,199	V920A	probably damaging	Het
Kcnk18	A	T	19: 59,235,458	H345L	probably damaging	Het
Kdm4d	A	T	9: 14,464,029	Y178N	probably damaging	Het
Klk1b1	A	G	7: 43,969,343	Y48C	probably damaging	Het
Klra5	G	T	6: 129,909,885	T60K	probably damaging	Het
Kng2	A	T	16: 22,987,520	L643H	probably damaging	Het
Lamb3	A	G	1: 193,330,759		probably null	Het
Lingo2	A	G	4: 35,708,315	V555A	probably damaging	Het
Mbd5	T	C	2: 49,272,934	S251P	probably damaging	Het
Mc4r	T	C	18: 66,859,695	S116G	probably benign	Het
Mipol1	T	C	12: 57,306,088	V71A	possibly damaging	Het
Myo15b	A	C	11: 115,866,635	S1104R	probably benign	Het
Nek1	T	A	8: 61,006,737	D26E	probably damaging	Het
Neu1	C	T	17: 34,932,113		probably benign	Het
Npffr2	T	C	5: 89,583,116	S302P	possibly damaging	Het
Olfr912	T	C	9: 38,581,379	M34T	probably benign	Het
Palmd	T	A	3: 116,948,040		probably benign	Het
Pcdh8	A	T	14: 79,770,607	V172E	probably benign	Het
Pnpla6	C	A	8: 3,522,403	Q291K	probably damaging	Het
Prkch	T	C	12: 73,702,546	F357L	probably benign	Het
Ptprj	A	T	2: 90,471,153	Y212N	probably damaging	Het
Reln	G	T	5: 21,960,378	H2061N	probably benign	Het
Rnf38	G	C	4: 44,142,468		probably null	Het
Slc30a4	T	A	2: 122,686,016	I374L	probably benign	Het
Slfn10-ps	T	C	11: 83,029,850		noncoding transcript	Het
Smcp	A	T	3: 92,584,403	C46S	unknown	Het
Smu1	A	C	4: 40,748,570	V240G	probably damaging	Het
Srsf5	A	G	12: 80,949,745		probably benign	Het
Stn1	T	C	19: 47,536,373		probably null	Het
Stx18	A	G	5: 38,104,991	E63G	probably damaging	Het
Tas2r130	A	G	6: 131,630,167	Y222H	probably benign	Het
Tescl	G	T	7: 24,333,333	P189Q	probably benign	Het
Tlr1	A	G	5: 64,926,860	S125P	probably damaging	Het
Ugt2a2	G	T	5: 87,462,021	D566E	possibly damaging	Het
Uhrf1bp1	T	C	17: 27,890,071	F1088S	possibly damaging	Het
Unc13b	A	T	4: 43,237,144	T3405S	probably damaging	Het
Upf1	G	A	8: 70,333,059	Q1046*	probably null	Het
Wwox	T	A	8: 114,445,350	Y61*	probably null	Het
Zfhx4	C	T	3: 5,403,110	T2776M	probably damaging	Het
Zranb3	G	A	1: 127,960,751		probably benign	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
R1729:Rint1	UTSW	5	23809843	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'- GGAAAACTTTGAGTTCTGTTGGAACGTG -3'
(R):5'- GTGTTCAAAATGCAACTGCTTAGCCT -3'

Sequencing Primer
(F):5'- GGAACGTGTTTTTGGAAAAGTC -3'
(R):5'- cagagggctatacagggaaac -3'

Posted On

2014-04-13