Mutagenetix > Incidental Mutation

Incidental Mutation 'R9339:Rint1'

707364

Institutional Source

Beutler Lab

Gene Symbol

Rint1

Ensembl Gene

ENSMUSG00000028999

Gene Name

RAD50 interactor 1

Synonyms

1500019C06Rik, 2810450M21Rik

MMRRC Submission

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R9339 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

23992709-24025367 bp(+) (GRCm39)

Type of Mutation

makesense

DNA Base Change (assembly)

A to G at 23993355 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Stop codon to Tryptophan at position 37 (*37W)

Ref Sequence

ENSEMBL: ENSMUSP00000112671 (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 null
Transcript: ENSMUST00000120869
AA Change: *37W

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: 99.8%
20x: 99.4%

Validation Efficiency

99% (77/78)

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: 80 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930562C15Rik	A	G	16: 4,667,521 (GRCm39)	E304G	unknown	Het
4933436I01Rik	T	A	X: 66,964,689 (GRCm39)	K57*	probably null	Het
Aar2	T	C	2: 156,392,893 (GRCm39)	V94A	probably benign	Het
Abcb9	T	C	5: 124,228,176 (GRCm39)	T22A	possibly damaging	Het
Adam25	T	C	8: 41,206,911 (GRCm39)	V59A	probably damaging	Het
Ampd2	T	C	3: 107,987,616 (GRCm39)	D103G	probably damaging	Het
Ankrd12	A	G	17: 66,291,408 (GRCm39)	S1342P	probably benign	Het
Atp13a2	A	G	4: 140,730,571 (GRCm39)	T739A	probably benign	Het
Catsperg1	T	A	7: 28,894,885 (GRCm39)	N571Y	probably benign	Het
Cela3b	A	G	4: 137,152,355 (GRCm39)	I74T	probably damaging	Het
Cfhr1	A	G	1: 139,485,293 (GRCm39)	L51P	probably benign	Het
Cfhr4	T	A	1: 139,682,044 (GRCm39)	Y184F	probably benign	Het
Ckap5	T	A	2: 91,396,100 (GRCm39)	D534E	probably benign	Het
Cstf3	C	T	2: 104,493,778 (GRCm39)	P594L	probably damaging	Het
Ctdp1	A	G	18: 80,492,689 (GRCm39)	L602P	probably damaging	Het
Defa24	A	G	8: 22,224,559 (GRCm39)	T3A	probably damaging	Het
Dmgdh	A	G	13: 93,847,941 (GRCm39)	H546R	probably benign	Het
Dscam	A	G	16: 96,517,263 (GRCm39)	V882A	possibly damaging	Het
Dydc2	A	G	14: 40,771,260 (GRCm39)	*140Q	probably null	Het
Ehd4	T	C	2: 119,921,708 (GRCm39)	D516G	possibly damaging	Het
En1	T	C	1: 120,534,893 (GRCm39)	V394A	unknown	Het
Erich3	T	G	3: 154,468,872 (GRCm39)	L1108R	unknown	Het
Erp27	A	G	6: 136,896,945 (GRCm39)	S86P	probably benign	Het
Esr1	A	C	10: 4,696,798 (GRCm39)	S216R	probably damaging	Het
Fbxo40	A	T	16: 36,789,286 (GRCm39)	I608N	probably damaging	Het
Fcna	G	A	2: 25,517,782 (GRCm39)	Q23*	probably null	Het
Foxn4	C	T	5: 114,394,955 (GRCm39)	R324Q	probably benign	Het
Gata6	A	G	18: 11,054,520 (GRCm39)	T150A	probably damaging	Het
Gbp2b	T	A	3: 142,317,178 (GRCm39)	H511Q	probably benign	Het
Gpr171	C	A	3: 59,005,362 (GRCm39)	V138L	probably damaging	Het
Grhl2	G	A	15: 37,344,904 (GRCm39)	V509I	probably benign	Het
Gzmd	G	A	14: 56,367,869 (GRCm39)	P135S	probably damaging	Het
Hhatl	C	A	9: 121,618,862 (GRCm39)	C90F	probably benign	Het
Hspg2	A	G	4: 137,278,480 (GRCm39)	K3050R	probably benign	Het
Kcnh3	T	C	15: 99,130,786 (GRCm39)	Y468H	probably damaging	Het
Lhfpl6	A	G	3: 52,950,891 (GRCm39)	H55R	probably benign	Het
Lpgat1	T	C	1: 191,451,488 (GRCm39)	V38A	probably benign	Het
Lrrc49	A	G	9: 60,510,031 (GRCm39)	I479T	probably benign	Het
Map1b	A	T	13: 99,567,570 (GRCm39)	I1717N	unknown	Het
Map3k20	G	T	2: 72,272,216 (GRCm39)	R781S	possibly damaging	Het
Mcm3ap	A	G	10: 76,306,358 (GRCm39)	E157G	probably benign	Het
Mylk2	A	G	2: 152,755,370 (GRCm39)	E178G	probably damaging	Het
Naaladl2	A	G	3: 24,057,146 (GRCm39)	L605P	probably damaging	Het
Nox4	G	A	7: 87,025,448 (GRCm39)	R525Q	probably benign	Het
Nt5el	C	T	13: 105,246,114 (GRCm39)	T225I	probably benign	Het
Or10h28	T	C	17: 33,488,631 (GRCm39)	V311A	probably benign	Het
Or4a76	T	C	2: 89,460,555 (GRCm39)	E229G	probably damaging	Het
Padi3	A	T	4: 140,522,928 (GRCm39)	I348N	probably benign	Het
Pcdh18	T	C	3: 49,709,335 (GRCm39)	D660G	probably damaging	Het
Pdgfra	T	A	5: 75,355,635 (GRCm39)	S1048R	probably damaging	Het
Pkhd1l1	T	C	15: 44,452,949 (GRCm39)	V3958A	probably damaging	Het
Ppargc1b	C	A	18: 61,456,267 (GRCm39)	C80F	probably damaging	Het
Rbm28	T	C	6: 29,128,674 (GRCm39)	E590G	probably benign	Het
Rbm47	T	C	5: 66,183,826 (GRCm39)	E259G	possibly damaging	Het
Sacs	G	A	14: 61,443,309 (GRCm39)	R1785Q	probably benign	Het
Samm50	T	C	15: 84,095,276 (GRCm39)	C421R	probably benign	Het
Scnn1b	G	T	7: 121,511,254 (GRCm39)	A314S	probably damaging	Het
Sf3b3	C	A	8: 111,542,854 (GRCm39)	V868L	probably benign	Het
Sirt5	G	T	13: 43,530,327 (GRCm39)	V136L	probably benign	Het
Slc1a7	T	C	4: 107,850,237 (GRCm39)	V116A	probably damaging	Het
Slc24a4	G	A	12: 102,230,638 (GRCm39)	V510M	probably damaging	Het
Slc35f5	T	C	1: 125,517,628 (GRCm39)	I116T	probably benign	Het
Spata4	T	C	8: 55,053,899 (GRCm39)	S22P	probably benign	Het
Sqstm1	A	G	11: 50,091,725 (GRCm39)	V324A	probably benign	Het
Stmnd1	G	A	13: 46,453,079 (GRCm39)	A252T	probably benign	Het
Tbl1xr1	C	A	3: 22,258,150 (GRCm39)	N470K	possibly damaging	Het
Thap12	T	C	7: 98,364,323 (GRCm39)	S164P	possibly damaging	Het
Thsd1	A	G	8: 22,733,898 (GRCm39)	Y315C	probably damaging	Het
Tnni2	C	A	7: 141,997,672 (GRCm39)	D102E	probably damaging	Het
Trav7n-4	A	C	14: 53,328,849 (GRCm39)	N16T	probably benign	Het
Trpm7	T	C	2: 126,665,906 (GRCm39)	K900R	probably benign	Het
Tspoap1	T	A	11: 87,668,839 (GRCm39)	C1371S	probably benign	Het
Tssk5	A	G	15: 76,257,156 (GRCm39)	M242T	possibly damaging	Het
Ubn2	A	G	6: 38,460,079 (GRCm39)	I607V	probably benign	Het
Ubr2	A	T	17: 47,284,865 (GRCm39)	V551E	probably benign	Het
Vipr2	A	G	12: 116,058,344 (GRCm39)	N87S	probably damaging	Het
Vmn2r18	T	A	5: 151,485,132 (GRCm39)	K787N	probably damaging	Het
Wwc2	A	T	8: 48,353,859 (GRCm39)	W92R	probably damaging	Het
Zfp141	A	G	7: 42,125,639 (GRCm39)	Y278H	probably damaging	Het
Zfp827	T	C	8: 79,844,887 (GRCm39)	S686P	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
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
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'- TGGCAGTAGTGTCAGGCATG -3'
(R):5'- AAACCAGTCACTGTCCTAGGAAGG -3'

Sequencing Primer
(F):5'- GCATGCCCCTGGGAGAG -3'
(R):5'- AGGAGCGTCAATGTGCTC -3'

Posted On

2022-04-18