Mutagenetix > Incidental Mutation

Incidental Mutation 'R8900:Rint1'

679894

Institutional Source

Beutler Lab

Gene Symbol

Rint1

Ensembl Gene

ENSMUSG00000028999

Gene Name

RAD50 interactor 1

Synonyms

1500019C06Rik, 2810450M21Rik

MMRRC Submission

068757-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R8900 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

23992709-24025367 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 24016882 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 549 (V549A)

Ref Sequence

ENSEMBL: ENSMUSP00000030852 (fasta)

Gene Model

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

AlphaFold

Q8BZ36

Predicted Effect

possibly damaging
Transcript: ENSMUST00000030852
AA Change: V549A

PolyPhen 2 Score 0.766 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000030852
Gene: ENSMUSG00000028999
AA Change: V549A

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000115113
AA Change: V491A

PolyPhen 2 Score 0.531 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000110766
Gene: ENSMUSG00000028999
AA Change: V491A

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.5%
20x: 98.4%

Validation Efficiency

100% (63/63)

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: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca9	T	C	11: 110,045,218 (GRCm39)	T372A	probably benign	Het
Adamts8	C	A	9: 30,865,930 (GRCm39)	R493S	probably benign	Het
Ankrd33b	G	A	15: 31,297,830 (GRCm39)	T309I	probably damaging	Het
Arhgap22	G	A	14: 32,993,880 (GRCm39)	W58*	probably null	Het
B4galt4	C	T	16: 38,572,404 (GRCm39)		probably benign	Het
Bcl2a1a	A	T	9: 88,839,311 (GRCm39)	I70L	probably benign	Het
Bst1	A	G	5: 43,977,942 (GRCm39)	D97G	possibly damaging	Het
Cand2	C	T	6: 115,757,894 (GRCm39)	T52M	probably benign	Het
Cd101	C	A	3: 100,926,062 (GRCm39)	R219L	probably benign	Het
Cd5l	T	A	3: 87,274,882 (GRCm39)	D140E	probably benign	Het
Cdcp3	A	T	7: 130,904,197 (GRCm39)		probably benign	Het
Cebpa	A	G	7: 34,819,906 (GRCm39)	M355V	possibly damaging	Het
Cfap74	G	A	4: 155,521,187 (GRCm39)	E620K		Het
Clec4a4	A	G	6: 123,000,875 (GRCm39)	E196G	probably damaging	Het
Cpxm1	T	A	2: 130,235,360 (GRCm39)	D544V	probably damaging	Het
Cwf19l2	T	A	9: 3,447,245 (GRCm39)	D535E	probably benign	Het
Daw1	T	G	1: 83,175,898 (GRCm39)	L212R	probably benign	Het
Dnm3	T	A	1: 162,135,445 (GRCm39)	T443S	probably benign	Het
Dock9	T	C	14: 121,817,940 (GRCm39)	D1627G	probably damaging	Het
Dohh	A	G	10: 81,223,735 (GRCm39)	I263V	probably benign	Het
Dsp	G	A	13: 38,365,155 (GRCm39)	V513M	probably damaging	Het
Dus4l	G	T	12: 31,690,692 (GRCm39)	L320I	possibly damaging	Het
Edc4	A	C	8: 106,617,857 (GRCm39)	Q1139P	probably damaging	Het
Fam220a	T	A	5: 143,549,228 (GRCm39)	C213*	probably null	Het
Fgf14	A	T	14: 124,221,326 (GRCm39)	Y159*	probably null	Het
Gm45861	A	T	8: 28,019,632 (GRCm39)	D749V	unknown	Het
Hip1	T	C	5: 135,459,144 (GRCm39)	T203A	probably benign	Het
Igfals	A	G	17: 25,099,014 (GRCm39)	D35G	possibly damaging	Het
Itga4	T	A	2: 79,145,332 (GRCm39)	I716K	probably damaging	Het
Ncaph2	T	A	15: 89,253,594 (GRCm39)	I282N	probably benign	Het
Ndufb3	T	C	1: 58,634,824 (GRCm39)	Y59H	probably damaging	Het
Nxpe3	T	C	16: 55,665,023 (GRCm39)	H399R	probably damaging	Het
Nxph1	T	C	6: 9,247,601 (GRCm39)	S191P	probably damaging	Het
Or13c7e-ps1	G	T	4: 43,781,432 (GRCm39)	S299R	probably benign	Het
Or1p1	T	C	11: 74,180,413 (GRCm39)	S314P	probably damaging	Het
Pcdha11	T	G	18: 37,145,799 (GRCm39)	I630S	probably damaging	Het
Pfkl	C	G	10: 77,836,615 (GRCm39)	G134A	probably damaging	Het
Phf19	A	T	2: 34,795,484 (GRCm39)	C196S	probably damaging	Het
Piezo2	T	C	18: 63,248,096 (GRCm39)	K468R	probably benign	Het
Plekhn1	T	C	4: 156,310,078 (GRCm39)	S79G	possibly damaging	Het
Pomk	A	G	8: 26,473,384 (GRCm39)	Y190H	possibly damaging	Het
Ppp1r13b	T	A	12: 111,838,778 (GRCm39)	E33D	probably damaging	Het
Raly	A	T	2: 154,705,493 (GRCm39)	I174F	probably damaging	Het
Rnf31	T	G	14: 55,833,689 (GRCm39)	C566G	probably damaging	Het
Scart1	G	A	7: 139,808,478 (GRCm39)	W796*	probably null	Het
Sdc1	C	T	12: 8,840,460 (GRCm39)	T79I	possibly damaging	Het
Sema6a	T	G	18: 47,424,182 (GRCm39)	E242A	probably damaging	Het
Slc22a30	A	C	19: 8,315,340 (GRCm39)	M430R	probably damaging	Het
Sp9	C	A	2: 73,103,863 (GRCm39)	T139K	probably benign	Het
Tbkbp1	T	C	11: 97,040,327 (GRCm39)	D29G	probably benign	Het
Tcf4	T	C	18: 69,697,761 (GRCm39)		probably benign	Het
Tenm3	A	T	8: 48,689,437 (GRCm39)	I2050N	probably damaging	Het
Tiparp	T	A	3: 65,460,603 (GRCm39)	F531I	probably damaging	Het
Tmem132b	A	T	5: 125,855,884 (GRCm39)	I539F	probably damaging	Het
Ttf2	T	C	3: 100,859,956 (GRCm39)	D666G	probably damaging	Het
Vmn1r51	T	C	6: 90,106,842 (GRCm39)	S253P	probably damaging	Het
Vmn2r104	A	G	17: 20,261,924 (GRCm39)	I402T	probably damaging	Het
Vmn2r16	T	C	5: 109,511,619 (GRCm39)	Y609H	probably benign	Het
Vmn2r17	A	T	5: 109,575,863 (GRCm39)	M245L	probably benign	Het
Vmn2r42	C	T	7: 8,197,792 (GRCm39)	E276K	probably benign	Het
Wdr75	C	A	1: 45,838,287 (GRCm39)	N65K	probably damaging	Het
Zbtb47	A	C	9: 121,596,705 (GRCm39)	K687T	probably damaging	Het
Zfhx4	T	C	3: 5,463,924 (GRCm39)	S1361P	probably damaging	Het
Zfp317	T	A	9: 19,558,708 (GRCm39)	C396*	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
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'- CATGGAGAGTACCAGGTTCATTCATG -3'
(R):5'- GTCACAGTTAGAGCCACAGC -3'

Sequencing Primer
(F):5'- GTTCACTCTCTCCGCAGACAGG -3'
(R):5'- GTTAGAGCCACAGCCACACAG -3'

Posted On

2021-08-31