Mutagenetix > Incidental Mutation

Incidental Mutation 'R1102:Rint1'

98162

Institutional Source

Beutler Lab

Gene Symbol

Rint1

Ensembl Gene

ENSMUSG00000028999

Gene Name

RAD50 interactor 1

Synonyms

1500019C06Rik, 2810450M21Rik

MMRRC Submission

039175-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R1102 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

23992709-24025367 bp(+) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

A to G at 24010565 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000110766 (fasta)

Gene Model

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

AlphaFold

Q8BZ36

Predicted Effect

probably benign
Transcript: ENSMUST00000030852

SMART Domains

Protein: ENSMUSP00000030852
Gene: ENSMUSG00000028999

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

Predicted Effect

probably benign
Transcript: ENSMUST00000115113

SMART Domains

Protein: ENSMUSP00000110766
Gene: ENSMUSG00000028999

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

Coding Region Coverage

1x: 98.9%
3x: 98.0%
10x: 95.3%
20x: 88.8%

Validation Efficiency

98% (60/61)

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: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700010I14Rik	C	T	17: 9,211,460 (GRCm39)	T203M	probably damaging	Het
Acy3	C	T	19: 4,037,850 (GRCm39)	T119I	probably damaging	Het
Ccdc6	C	A	10: 70,023,636 (GRCm39)	H400Q	possibly damaging	Het
Ccna1	T	C	3: 54,958,281 (GRCm39)	D134G	probably damaging	Het
Cct2	A	T	10: 116,896,545 (GRCm39)		probably null	Het
Cd36	A	G	5: 18,019,211 (GRCm39)	F170S	possibly damaging	Het
Cep350	G	A	1: 155,807,264 (GRCm39)	P718S	probably damaging	Het
Cimip1	T	A	2: 173,364,516 (GRCm39)	D20E	probably damaging	Het
Ctnna3	A	T	10: 64,421,774 (GRCm39)	I523L	probably benign	Het
Dnah1	G	T	14: 31,018,414 (GRCm39)	Y1405*	probably null	Het
Dnah8	T	A	17: 31,073,738 (GRCm39)		probably null	Het
Drd3	T	C	16: 43,582,846 (GRCm39)	L113S	probably damaging	Het
Emsy	T	C	7: 98,251,796 (GRCm39)	T735A	probably damaging	Het
Epha5	A	G	5: 84,381,434 (GRCm39)		probably benign	Het
Ezhip	GTCATCATCATCATC	GTCATCATCATCATCATC	X: 5,994,645 (GRCm39)		probably benign	Het
Fbxo10	A	G	4: 45,043,672 (GRCm39)	L717P	probably damaging	Het
Galnt10	T	C	11: 57,671,871 (GRCm39)		probably benign	Het
Gle1	T	G	2: 29,834,066 (GRCm39)	I437M	possibly damaging	Het
Gpr137b	T	C	13: 13,539,616 (GRCm39)		probably benign	Het
Gsta1	T	C	9: 78,149,777 (GRCm39)	F197L	probably damaging	Het
Icam1	G	A	9: 20,939,132 (GRCm39)	V502M	possibly damaging	Het
Ido1	T	A	8: 25,083,156 (GRCm39)	I90F	probably damaging	Het
Il4ra	G	A	7: 125,173,889 (GRCm39)		probably null	Het
Med12l	T	A	3: 59,152,257 (GRCm39)	M1014K	probably damaging	Het
Mmp13	A	G	9: 7,272,952 (GRCm39)	E104G	possibly damaging	Het
Mms19	T	C	19: 41,939,284 (GRCm39)	E495G	possibly damaging	Het
Mrc2	A	G	11: 105,231,647 (GRCm39)	I820V	probably benign	Het
Naip6	T	C	13: 100,440,923 (GRCm39)	K286E	possibly damaging	Het
Ndrg1	T	C	15: 66,816,685 (GRCm39)	Y110C	probably damaging	Het
Or1e1c	G	A	11: 73,265,700 (GRCm39)	V45I	probably benign	Het
Or4a78	A	T	2: 89,497,814 (GRCm39)	C139S	probably damaging	Het
Or5b118	T	C	19: 13,448,771 (GRCm39)	C146R	probably damaging	Het
Or5b3	G	A	19: 13,388,454 (GRCm39)	V174M	probably damaging	Het
Oxtr	C	T	6: 112,454,138 (GRCm39)	R42Q	probably benign	Het
Pdzd4	G	A	X: 72,839,052 (GRCm39)	R419C	probably damaging	Het
Pnpla7	G	T	2: 24,886,177 (GRCm39)	M3I	probably damaging	Het
Popdc3	A	G	10: 45,192,642 (GRCm39)		probably benign	Het
Ppp5c	A	G	7: 16,756,368 (GRCm39)	F112S	probably benign	Het
Rbp3	A	G	14: 33,678,313 (GRCm39)	T754A	possibly damaging	Het
Reep6	A	G	10: 80,171,080 (GRCm39)	T319A	probably benign	Het
Rfx3	A	G	19: 27,845,000 (GRCm39)	V43A	possibly damaging	Het
Sacm1l	T	G	9: 123,411,363 (GRCm39)	V384G	probably damaging	Het
Shox2	A	T	3: 66,885,628 (GRCm39)	L149Q	probably damaging	Het
Sipa1	T	C	19: 5,702,782 (GRCm39)	H805R	probably benign	Het
Skic2	T	C	17: 35,059,082 (GRCm39)	D1095G	probably benign	Het
Slc5a3	G	T	16: 91,874,765 (GRCm39)	W274L	probably damaging	Het
Spata31e4	A	G	13: 50,857,118 (GRCm39)	T919A	probably benign	Het
Sptbn1	G	T	11: 30,070,785 (GRCm39)	H1524Q	possibly damaging	Het
Ssr1	G	T	13: 38,171,591 (GRCm39)	Q149K	probably benign	Het
Taf7l2	T	C	10: 115,949,299 (GRCm39)	S76G	probably damaging	Het
Thsd7a	T	C	6: 12,555,701 (GRCm39)	D61G	possibly damaging	Het
Tmem245	T	C	4: 56,903,200 (GRCm39)		probably benign	Het
Tmem74	T	C	15: 43,730,186 (GRCm39)	T286A	probably benign	Het
Tnc	T	C	4: 63,938,705 (GRCm39)	N45D	probably benign	Het
Trdmt1	T	G	2: 13,528,225 (GRCm39)		probably benign	Het
Uty	A	T	Y: 1,174,741 (GRCm39)	Y220N	probably damaging	Het
Vdr	T	C	15: 97,757,002 (GRCm39)	Y290C	probably damaging	Het
Vmn2r19	T	A	6: 123,313,132 (GRCm39)	M734K	probably benign	Het
Vmn2r53	T	C	7: 12,332,410 (GRCm39)	D413G	possibly damaging	Het
Vps45	A	G	3: 95,950,253 (GRCm39)		probably benign	Het

Other mutations in Rint1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00087:Rint1	APN	5	23,999,429 (GRCm39)	missense	probably benign	0.00
IGL00596:Rint1	APN	5	24,016,863 (GRCm39)	missense	probably damaging	0.99
IGL01685:Rint1	APN	5	23,992,832 (GRCm39)	unclassified	probably benign
IGL02428:Rint1	APN	5	23,999,450 (GRCm39)	nonsense	probably null
IGL03007:Rint1	APN	5	24,020,699 (GRCm39)	missense	probably benign	0.00
IGL03280:Rint1	APN	5	24,022,076 (GRCm39)	missense	probably damaging	1.00
breakage	UTSW	5	24,005,720 (GRCm39)	missense	probably damaging	0.99
IGL02799:Rint1	UTSW	5	24,024,478 (GRCm39)	missense	possibly damaging	0.93
R0062:Rint1	UTSW	5	23,992,826 (GRCm39)	unclassified	probably benign
R0243:Rint1	UTSW	5	24,021,930 (GRCm39)	splice site	probably benign
R1552:Rint1	UTSW	5	24,005,656 (GRCm39)	missense	probably benign	0.00
R1729:Rint1	UTSW	5	24,014,841 (GRCm39)	missense	probably benign	0.00
R1784:Rint1	UTSW	5	24,014,841 (GRCm39)	missense	probably benign	0.00
R2070:Rint1	UTSW	5	24,015,927 (GRCm39)	missense	possibly damaging	0.94
R2920:Rint1	UTSW	5	24,010,400 (GRCm39)	missense	probably benign	0.00
R3114:Rint1	UTSW	5	24,024,418 (GRCm39)	missense	probably benign	0.27
R4398:Rint1	UTSW	5	23,999,445 (GRCm39)	missense	possibly damaging	0.55
R4756:Rint1	UTSW	5	24,014,791 (GRCm39)	missense	probably damaging	1.00
R5246:Rint1	UTSW	5	24,005,809 (GRCm39)	missense	probably damaging	0.99
R5452:Rint1	UTSW	5	23,999,363 (GRCm39)	missense	probably benign	0.01
R5566:Rint1	UTSW	5	24,015,951 (GRCm39)	missense	probably damaging	1.00
R5709:Rint1	UTSW	5	24,020,831 (GRCm39)	missense	probably damaging	0.98
R6524:Rint1	UTSW	5	24,020,737 (GRCm39)	missense	probably benign	0.00
R7346:Rint1	UTSW	5	24,020,651 (GRCm39)	missense	possibly damaging	0.82
R7549:Rint1	UTSW	5	24,020,702 (GRCm39)	missense	probably benign
R7634:Rint1	UTSW	5	24,010,477 (GRCm39)	missense	probably benign	0.00
R7647:Rint1	UTSW	5	24,005,800 (GRCm39)	missense	probably damaging	1.00
R7885:Rint1	UTSW	5	24,010,642 (GRCm39)	missense	probably benign
R7895:Rint1	UTSW	5	24,005,720 (GRCm39)	missense	probably damaging	0.99
R8347:Rint1	UTSW	5	24,016,770 (GRCm39)	missense	probably damaging	1.00
R8791:Rint1	UTSW	5	24,005,594 (GRCm39)	missense	probably damaging	0.99
R8900:Rint1	UTSW	5	24,016,882 (GRCm39)	missense	possibly damaging	0.77
R8916:Rint1	UTSW	5	23,992,826 (GRCm39)	unclassified	probably benign
R8973:Rint1	UTSW	5	24,016,728 (GRCm39)	missense	probably benign	0.00
R9245:Rint1	UTSW	5	24,010,411 (GRCm39)	missense	probably benign
R9339:Rint1	UTSW	5	23,993,355 (GRCm39)	makesense	probably null
R9630:Rint1	UTSW	5	24,020,810 (GRCm39)	missense	possibly damaging	0.82
R9718:Rint1	UTSW	5	24,005,721 (GRCm39)	missense	possibly damaging	0.53
Z1088:Rint1	UTSW	5	24,010,312 (GRCm39)	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- TGGACATCCAGCTTCAGGAGTCATC -3'
(R):5'- GGAAACCTTTCTCCCCTGACTGTG -3'

Sequencing Primer
(F):5'- CAGGAGTCATCCTGTACTCATC -3'
(R):5'- TAACCACAGGTCTACTGTCAGG -3'

Posted On

2014-01-05