Mutagenetix > Incidental Mutation

Incidental Mutation 'R0062:Rint1'

98886

Institutional Source

Beutler Lab

Gene Symbol

Rint1

Ensembl Gene

ENSMUSG00000028999

Gene Name

RAD50 interactor 1

Synonyms

1500019C06Rik, 2810450M21Rik

MMRRC Submission

038354-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R0062 (G1)

Quality Score

109

Status

Validated

Chromosome

Chromosomal Location

23992709-24025367 bp(+) (GRCm39)

Type of Mutation

unclassified

DNA Base Change (assembly)

G to A 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

noncoding transcript
Transcript: ENSMUST00000112256

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

noncoding transcript
Transcript: ENSMUST00000124680

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000196607

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000199495

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

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.3%
3x: 98.6%
10x: 96.9%
20x: 94.4%

Validation Efficiency

100% (70/70)

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: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4921513I03Rik	G	T	10: 120,614,511 (GRCm39)		probably benign	Het
4930407I10Rik	T	A	15: 81,947,267 (GRCm39)	I388K	probably benign	Het
4930407I10Rik	T	A	15: 81,950,504 (GRCm39)	V1467D	probably damaging	Het
Abi2	T	A	1: 60,492,884 (GRCm39)	N182K	probably benign	Het
Adam25	A	T	8: 41,207,829 (GRCm39)	H365L	probably damaging	Het
Ankfy1	T	A	11: 72,603,030 (GRCm39)	Y20N	probably damaging	Het
Aqp11	C	T	7: 97,387,068 (GRCm39)	V43M	probably benign	Het
Arhgef10l	A	T	4: 140,279,843 (GRCm39)	L503Q	probably damaging	Het
Arhgef28	A	T	13: 98,093,150 (GRCm39)	I977N	possibly damaging	Het
Cacna1b	A	G	2: 24,648,343 (GRCm39)	Y161H	probably damaging	Het
Cacna1c	T	C	6: 118,579,198 (GRCm39)	D1480G	probably damaging	Het
Clk3	A	G	9: 57,659,449 (GRCm39)	M533T	probably damaging	Het
Cnbd1	A	G	4: 18,860,504 (GRCm39)	I414T	possibly damaging	Het
Commd3	A	T	2: 18,679,514 (GRCm39)		probably null	Het
Crybg1	G	T	10: 43,873,902 (GRCm39)	Q1069K	probably damaging	Het
Dnah8	T	A	17: 30,984,685 (GRCm39)	F3128I	probably damaging	Het
Dnmt3b	C	T	2: 153,514,192 (GRCm39)	P382S	probably benign	Het
Dock1	A	G	7: 134,379,224 (GRCm39)		probably null	Het
Dpysl3	C	T	18: 43,466,941 (GRCm39)		probably null	Het
Ebf2	T	A	14: 67,475,989 (GRCm39)		probably benign	Het
F830045P16Rik	T	C	2: 129,305,624 (GRCm39)	E250G	possibly damaging	Het
Fbp2	A	T	13: 63,001,862 (GRCm39)	F118I	probably damaging	Het
Fetub	T	C	16: 22,747,836 (GRCm39)		probably benign	Het
Fmn2	A	T	1: 174,436,015 (GRCm39)		probably benign	Het
Fryl	T	C	5: 73,179,621 (GRCm39)	I2929V	probably benign	Het
Gm11232	T	A	4: 71,675,112 (GRCm39)	Q130L	possibly damaging	Het
Gm9637	G	T	14: 19,402,570 (GRCm38)		noncoding transcript	Het
Gna15	A	G	10: 81,348,239 (GRCm39)		probably null	Het
Gtf3c5	T	C	2: 28,462,198 (GRCm39)		probably benign	Het
Irs2	G	A	8: 11,055,723 (GRCm39)	T903I	possibly damaging	Het
Itga2	G	A	13: 115,007,032 (GRCm39)	S432L	possibly damaging	Het
Izumo1	A	G	7: 45,276,621 (GRCm39)	T395A	probably benign	Het
Kcnd2	G	A	6: 21,727,225 (GRCm39)	V593M	possibly damaging	Het
Kprp	T	C	3: 92,731,989 (GRCm39)	S354G	probably damaging	Het
Krt72	T	C	15: 101,694,443 (GRCm39)	K151E	probably damaging	Het
Letm2	A	T	8: 26,077,464 (GRCm39)		probably benign	Het
Lipe	A	G	7: 25,097,874 (GRCm39)	V23A	possibly damaging	Het
Mcc	C	G	18: 44,652,583 (GRCm39)		probably benign	Het
Mef2c	A	G	13: 83,800,992 (GRCm39)	N231D	possibly damaging	Het
Mtdh	T	A	15: 34,134,426 (GRCm39)		probably benign	Het
Mthfd1	G	A	12: 76,344,363 (GRCm39)		probably benign	Het
Nbeal1	C	A	1: 60,286,876 (GRCm39)	N899K	probably benign	Het
Noc3l	T	C	19: 38,803,253 (GRCm39)	S129G	probably benign	Het
Odad2	T	A	18: 7,129,593 (GRCm39)		probably benign	Het
Or10ak14	T	C	4: 118,611,100 (GRCm39)	I212V	probably benign	Het
Or2aj6	T	C	16: 19,443,167 (GRCm39)	M228V	probably benign	Het
Or4c118	T	C	2: 88,974,966 (GRCm39)	I134V	possibly damaging	Het
Or8b1c	T	A	9: 38,384,554 (GRCm39)	D170E	probably benign	Het
Pik3r6	T	A	11: 68,419,635 (GRCm39)	Y149N	probably damaging	Het
Pja2	C	A	17: 64,615,966 (GRCm39)	V310L	probably damaging	Het
Plcd3	G	A	11: 102,965,720 (GRCm39)	A504V	probably benign	Het
Ripor3	A	G	2: 167,826,358 (GRCm39)		probably benign	Het
Rpa2	C	A	4: 132,505,125 (GRCm39)	N251K	probably damaging	Het
Rttn	T	C	18: 89,029,090 (GRCm39)		probably null	Het
Ryr2	C	T	13: 11,884,002 (GRCm39)		probably null	Het
Scara3	T	C	14: 66,168,417 (GRCm39)	N400S	probably damaging	Het
Slc7a6	G	T	8: 106,916,263 (GRCm39)	V180L	possibly damaging	Het
Slc7a6	T	A	8: 106,916,264 (GRCm39)	V180E	probably damaging	Het
Slc8b1	T	A	5: 120,659,928 (GRCm39)		probably null	Het
Slco1a4	G	A	6: 141,765,205 (GRCm39)	Q346*	probably null	Het
Stk32b	A	G	5: 37,618,792 (GRCm39)	S229P	probably damaging	Het
Syde2	A	G	3: 145,704,508 (GRCm39)	R487G	probably benign	Het
Tbc1d2b	T	C	9: 90,104,355 (GRCm39)		probably benign	Het
Ticrr	T	C	7: 79,317,654 (GRCm39)	V396A	probably benign	Het
Trrap	T	C	5: 144,719,003 (GRCm39)		probably benign	Het
Vmn1r124	A	T	7: 20,993,743 (GRCm39)	I267K	probably benign	Het
Vps13a	A	T	19: 16,646,054 (GRCm39)	H1994Q	probably damaging	Het
Wdr36	T	G	18: 32,997,802 (GRCm39)	V820G	possibly damaging	Het
Wdr83	G	A	8: 85,806,456 (GRCm39)	T114I	possibly damaging	Het
Zc3h7a	T	C	16: 10,957,011 (GRCm39)	N866S	probably damaging	Het
Zfc3h1	A	G	10: 115,252,658 (GRCm39)	K1324E	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
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
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

Posted On

2014-01-10