Mutagenetix > Incidental Mutation

Incidental Mutation 'R8916:Rint1'

678931

Institutional Source

Beutler Lab

Gene Symbol

Rint1

Ensembl Gene

ENSMUSG00000028999

Gene Name

RAD50 interactor 1

Synonyms

1500019C06Rik, 2810450M21Rik

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R8916 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

23992709-24025367 bp(+) (GRCm39)

Type of Mutation

unclassified

DNA Base Change (assembly)

G to T at 23992826 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000114588 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000030852] [ENSMUST00000115113] [ENSMUST00000117783] [ENSMUST00000119946] [ENSMUST00000120869] [ENSMUST00000148618]

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

probably benign
Transcript: ENSMUST00000117783

Predicted Effect

probably benign
Transcript: ENSMUST00000119946

SMART Domains

Protein: ENSMUSP00000113801
Gene: ENSMUSG00000057541

Domain	Start	End	E-Value	Type
low complexity region	77	99	N/A	INTRINSIC
Pfam:TruD	246	641	9e-69	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000120869

Predicted Effect

probably benign
Transcript: ENSMUST00000148618

SMART Domains

Protein: ENSMUSP00000114588
Gene: ENSMUSG00000057541

Domain	Start	End	E-Value	Type
low complexity region	77	99	N/A	INTRINSIC
Pfam:TruD	251	647	6.3e-69	PFAM

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.9%
20x: 99.6%

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: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts16	A	G	13: 70,941,307 (GRCm39)	L360S	probably damaging	Het
AW554918	T	C	18: 25,423,049 (GRCm39)	Y167H	probably damaging	Het
Cdh18	A	T	15: 23,410,813 (GRCm39)	I433F	probably damaging	Het
Cenpj	A	T	14: 56,790,352 (GRCm39)	F566I	probably damaging	Het
Cntn4	T	A	6: 106,652,915 (GRCm39)	Y795N	probably damaging	Het
Col4a4	C	T	1: 82,501,667 (GRCm39)	G362E	unknown	Het
Crebrf	A	G	17: 26,958,583 (GRCm39)	T18A	probably damaging	Het
D130043K22Rik	G	A	13: 25,056,254 (GRCm39)	V529I	probably benign	Het
Dars2	T	C	1: 160,881,552 (GRCm39)	T326A	probably benign	Het
Eif4e	T	C	3: 138,256,043 (GRCm39)		probably benign	Het
Enpp2	T	C	15: 54,733,722 (GRCm39)	M413V	possibly damaging	Het
Fbn1	T	C	2: 125,245,149 (GRCm39)	D246G	possibly damaging	Het
Foxred2	A	G	15: 77,837,514 (GRCm39)	S241P	probably damaging	Het
Fras1	T	C	5: 96,900,774 (GRCm39)	F2998L	probably damaging	Het
Garin4	A	G	1: 190,895,857 (GRCm39)	I262T	probably benign	Het
Grb10	T	C	11: 11,901,599 (GRCm39)	T192A	probably benign	Het
Grid1	G	A	14: 35,043,664 (GRCm39)	D340N	probably damaging	Het
Heatr5a	AGCACACTGCAGGAAGCTCACACAGCACAGCATACCTTCAGGAGTGCACACTGCAGGAAGCTCACACAGCACAGCATACCTTCAGGAGAGCACACTGCAGGAAGCTCA	AGCACACTGCAGGAAGCTCACACAGCACAGCATACCTTCAGGAGAGCACACTGCAGGAAGCTCA	12: 51,934,702 (GRCm39)		probably benign	Het
Hinfp	A	T	9: 44,209,673 (GRCm39)	F234I	probably damaging	Het
Hmcn1	A	T	1: 150,649,530 (GRCm39)	I652N	probably damaging	Het
Kif24	T	C	4: 41,394,963 (GRCm39)	K771E	probably benign	Het
Lhcgr	A	G	17: 89,061,170 (GRCm39)		probably null	Het
Lnpk	A	T	2: 74,358,486 (GRCm39)	S358T	probably benign	Het
Lpcat2	A	T	8: 93,596,316 (GRCm39)	M118L	probably benign	Het
Lypd1	T	A	1: 125,801,120 (GRCm39)	T127S	unknown	Het
Mettl23	C	T	11: 116,740,111 (GRCm39)	T194I	probably damaging	Het
Mga	T	C	2: 119,788,819 (GRCm39)	V2227A	possibly damaging	Het
Mus81	A	T	19: 5,534,214 (GRCm39)	V368E	probably damaging	Het
Myo3a	T	A	2: 22,457,704 (GRCm39)	F1046I	probably damaging	Het
Nfia	G	A	4: 97,888,667 (GRCm39)	V222I	probably benign	Het
Niban2	T	A	2: 32,811,106 (GRCm39)	M372K	possibly damaging	Het
Nop9	A	G	14: 55,991,101 (GRCm39)	E586G	probably benign	Het
Nr2e1	G	A	10: 42,443,864 (GRCm39)	A286V	possibly damaging	Het
Nup153	G	A	13: 46,863,462 (GRCm39)	Q300*	probably null	Het
Plaat1	A	G	16: 29,039,259 (GRCm39)	D113G	possibly damaging	Het
Pnp2	T	C	14: 51,201,234 (GRCm39)	L202P	probably damaging	Het
Prss3b	T	A	6: 41,010,103 (GRCm39)	H77L	probably damaging	Het
Psen2	A	G	1: 180,063,495 (GRCm39)	F183L	probably benign	Het
Rsf1	GGC	GGCGGCGGCCGC	7: 97,229,140 (GRCm39)		probably benign	Het
Ryr3	C	A	2: 112,608,635 (GRCm39)	R2335L	probably damaging	Het
Scn1a	T	C	2: 66,108,127 (GRCm39)	D1544G	probably damaging	Het
Sec31b	A	C	19: 44,520,783 (GRCm39)	S175A		Het
Sgcg	A	G	14: 61,474,341 (GRCm39)	S101P	probably damaging	Het
Shb	A	T	4: 45,489,154 (GRCm39)	S241T	probably damaging	Het
Slc47a2	A	T	11: 61,193,118 (GRCm39)	L545Q	probably damaging	Het
Spata31g1	C	A	4: 42,973,034 (GRCm39)	P789H	probably damaging	Het
Spef2	C	A	15: 9,725,266 (GRCm39)	E164*	probably null	Het
Sphkap	A	T	1: 83,255,108 (GRCm39)	N880K	possibly damaging	Het
Taf2	A	G	15: 54,899,931 (GRCm39)	V894A	probably benign	Het
Tgfa	T	G	6: 86,248,436 (GRCm39)	L146R	probably damaging	Het
Tlr3	C	T	8: 45,856,076 (GRCm39)	V35I	probably benign	Het
Tlr4	G	A	4: 66,847,268 (GRCm39)	V132I	probably benign	Het
Tsen34	C	T	7: 3,697,340 (GRCm39)		probably benign	Het
Ttc13	T	G	8: 125,409,976 (GRCm39)	K412T	probably damaging	Het
Unc45b	A	G	11: 82,804,038 (GRCm39)	I72V	probably benign	Het
Vmn1r195	A	G	13: 22,463,139 (GRCm39)	Y203C	probably damaging	Het
Vmn2r65	T	A	7: 84,595,665 (GRCm39)	T340S	probably benign	Het
Vmn2r88	T	A	14: 51,648,593 (GRCm39)	C46S		Het
Ythdf2	A	T	4: 131,931,830 (GRCm39)	D443E	probably damaging	Het
Zeb2	T	C	2: 44,886,796 (GRCm39)	R754G	probably damaging	Het
Zfp236	T	A	18: 82,664,351 (GRCm39)	E478V	probably damaging	Het
Zfp287	A	T	11: 62,605,136 (GRCm39)	Y590*	probably null	Het
Zfp9	A	T	6: 118,442,223 (GRCm39)	C146*	probably null	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
R1102:Rint1	UTSW	5	24,010,565 (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
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'- CGCAGATATGCCTCTCTAGG -3'
(R):5'- TTCTGGGACATCGGACATTGC -3'

Sequencing Primer
(F):5'- TCTCTAGGCCAAGAGAACGG -3'
(R):5'- ACATCGGACATTGCACTGTG -3'

Posted On

2021-08-02