Mutagenetix > Incidental Mutation

Incidental Mutation 'R9245:Rint1'

701204

Institutional Source

Beutler Lab

Gene Symbol

Rint1

Ensembl Gene

ENSMUSG00000028999

Gene Name

RAD50 interactor 1

Synonyms

2810450M21Rik, 1500019C06Rik

MMRRC Submission

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R9245 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

23787711-23820369 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 23805413 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 207 (T207A)

Ref Sequence

ENSEMBL: ENSMUSP00000030852 (fasta)

Gene Model

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

AlphaFold

Q8BZ36

Predicted Effect

probably benign
Transcript: ENSMUST00000030852
AA Change: T207A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000030852
Gene: ENSMUSG00000028999
AA Change: T207A

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.3%

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: 88 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4932415D10Rik	T	C	10: 82,287,720	D3152G	probably benign	Het
Abhd15	C	A	11: 77,515,486	H96Q	possibly damaging	Het
Ankhd1	A	G	18: 36,655,600	Q411R		Het
Ankrd34c	A	T	9: 89,728,887	V467E	probably damaging	Het
Apobr	A	T	7: 126,587,335	R673*	probably null	Het
Arhgap18	T	C	10: 26,846,111	V98A	possibly damaging	Het
Arhgap30	G	T	1: 171,408,389	W777L	possibly damaging	Het
Atp8a1	A	G	5: 67,622,634	Y1154H	unknown	Het
B3gntl1	A	G	11: 121,623,944	F299S	possibly damaging	Het
Baz2a	C	T	10: 128,121,943	T1055I	probably benign	Het
Baz2b	T	C	2: 59,912,987	M1547V	probably benign	Het
BC048403	A	T	10: 121,750,368	H196L	probably damaging	Het
Bsn	T	C	9: 108,116,093	D820G	probably damaging	Het
Ccdc57	A	G	11: 120,921,752	Y59H	probably damaging	Het
Crim1	T	A	17: 78,344,442	C532S	probably damaging	Het
Csmd2	A	C	4: 128,306,375	D451A		Het
Cyp2d22	A	T	15: 82,372,547	I342K	probably damaging	Het
Des	A	T	1: 75,366,762	T430S	probably benign	Het
Dnah17	C	T	11: 118,125,677	V283I	probably benign	Het
Dnah9	C	T	11: 65,895,905	G3634E	probably benign	Het
Dst	A	G	1: 34,189,862	S2179G	probably benign	Het
Esrp2	T	A	8: 106,132,143	T621S	possibly damaging	Het
Ext2	C	T	2: 93,704,491	V643I	probably benign	Het
Fastk	G	A	5: 24,444,174	P72S	probably benign	Het
Fbxo28	A	G	1: 182,318,001	I174T	possibly damaging	Het
Fstl3	C	T	10: 79,778,577	L38F	probably damaging	Het
Gatsl3	T	A	11: 4,220,485	N160K	probably damaging	Het
Gm960	T	G	19: 4,696,040	K199Q	possibly damaging	Het
Golgb1	C	T	16: 36,918,819	Q2548*	probably null	Het
Gstm3	T	C	3: 107,967,640	T99A	probably benign	Het
Hadh	T	C	3: 131,240,987	N220S	probably damaging	Het
Hist1h2bn	A	G	13: 21,754,199	D26G	unknown	Het
Hnrnpab	T	C	11: 51,606,413	T51A	probably benign	Het
Ikbkap	C	A	4: 56,771,003	R980L	probably benign	Het
Immt	G	T	6: 71,846,366	W67L	probably benign	Het
Ints8	T	A	4: 11,213,811		probably null	Het
Ipo7	T	C	7: 110,044,619	V407A	probably damaging	Het
Kif20b	T	C	19: 34,938,325	S501P	probably benign	Het
Krt39	T	G	11: 99,516,624	Q348P	probably damaging	Het
Lrp1b	T	A	2: 40,598,444	N4543I		Het
Macrod2	T	C	2: 141,810,614	V199A	probably benign	Het
Mast2	A	G	4: 116,310,504	V1052A	probably damaging	Het
Mfap4	T	C	11: 61,487,181	F149S	probably damaging	Het
Moap1	A	G	12: 102,742,267	V341A	unknown	Het
Mprip	G	T	11: 59,737,577	E283D	possibly damaging	Het
Mrgpra2a	A	G	7: 47,427,256	F85L	possibly damaging	Het
Mx1	T	A	16: 97,451,553		probably null	Het
Ndc80	A	T	17: 71,500,299	M554K	probably benign	Het
Nicn1	C	T	9: 108,294,509	R163C	possibly damaging	Het
Olfr172	T	A	16: 58,760,763	K138*	probably null	Het
Olfr592	A	T	7: 103,186,987	I129F	probably damaging	Het
Olfr768	T	A	10: 129,093,603	I124F	probably damaging	Het
Pck1	C	T	2: 173,154,776	T161I	probably damaging	Het
Pclo	T	A	5: 14,676,945	M1939K	unknown	Het
Pcm1	T	A	8: 41,279,840	N711K	probably damaging	Het
Pkd2l1	A	G	19: 44,155,455	V393A	probably benign	Het
Pla2g15	G	T	8: 106,162,907	A229S	possibly damaging	Het
Plekhg1	G	A	10: 3,957,141	R741Q		Het
Plod1	A	G	4: 147,926,169	L275P	possibly damaging	Het
Plvap	G	T	8: 71,511,679	T13K	possibly damaging	Het
Plxna1	A	T	6: 89,337,338	I707N	probably damaging	Het
Pnmal2	A	G	7: 16,946,918	E609G	probably benign	Het
Ptger4	C	T	15: 5,243,712		probably benign	Het
Qars	G	T	9: 108,508,933	E108*	probably null	Het
Rfpl4	C	A	7: 5,110,841	D114Y	probably damaging	Het
Rxfp1	A	G	3: 79,644,954	I680T	probably benign	Het
Skint2	A	T	4: 112,645,419	K275N	probably benign	Het
Slc29a3	A	G	10: 60,723,976	V133A	possibly damaging	Het
Slc9a2	A	G	1: 40,766,300	K680E	probably benign	Het
Smc1b	A	T	15: 85,120,645	F409L	probably benign	Het
Sos2	A	T	12: 69,648,465	M166K	probably damaging	Het
Tead1	A	G	7: 112,759,516	I12V	probably benign	Het
Tead3	C	A	17: 28,332,735	K461N	probably benign	Het
Tex12	C	A	9: 50,557,472	A83S	probably damaging	Het
Ttc28	A	G	5: 111,177,659	T319A	unknown	Het
Ttn	T	C	2: 76,898,249	I5496V	unknown	Het
Tubb4a	T	A	17: 57,080,959	I356F	possibly damaging	Het
Txk	A	T	5: 72,734,267	W119R	probably damaging	Het
Txnl4a	A	T	18: 80,218,722	I58F	probably benign	Het
Uba6	A	T	5: 86,170,559	Y44N	probably damaging	Het
Usp40	T	C	1: 87,950,287	T1093A	probably benign	Het
Vmn1r194	T	C	13: 22,244,561	I116T	probably benign	Het
Vmn2r14	A	G	5: 109,220,310	M272T	possibly damaging	Het
Vmn2r85	C	A	10: 130,419,164	M550I	possibly damaging	Het
Vmn2r85	C	A	10: 130,425,665	V268F	probably damaging	Het
Vwa5b2	T	A	16: 20,598,140	V529E	probably damaging	Het
Zfp141	A	T	7: 42,475,397	Y550*	probably null	Het
Zik1	G	A	7: 10,490,229	L314F	probably damaging	Het

Other mutations in Rint1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00087:Rint1	APN	5	23794431	missense	probably benign	0.00
IGL00596:Rint1	APN	5	23811865	missense	probably damaging	0.99
IGL01685:Rint1	APN	5	23787834	unclassified	probably benign
IGL02428:Rint1	APN	5	23794452	nonsense	probably null
IGL03007:Rint1	APN	5	23815701	missense	probably benign	0.00
IGL03280:Rint1	APN	5	23817078	missense	probably damaging	1.00
breakage	UTSW	5	23800722	missense	probably damaging	0.99
IGL02799:Rint1	UTSW	5	23819480	missense	possibly damaging	0.93
R0062:Rint1	UTSW	5	23787828	unclassified	probably benign
R0243:Rint1	UTSW	5	23816932	splice site	probably benign
R1102:Rint1	UTSW	5	23805567	splice site	probably benign
R1552:Rint1	UTSW	5	23800658	missense	probably benign	0.00
R1729:Rint1	UTSW	5	23809843	missense	probably benign	0.00
R1784:Rint1	UTSW	5	23809843	missense	probably benign	0.00
R2070:Rint1	UTSW	5	23810929	missense	possibly damaging	0.94
R2920:Rint1	UTSW	5	23805402	missense	probably benign	0.00
R3114:Rint1	UTSW	5	23819420	missense	probably benign	0.27
R4398:Rint1	UTSW	5	23794447	missense	possibly damaging	0.55
R4756:Rint1	UTSW	5	23809793	missense	probably damaging	1.00
R5246:Rint1	UTSW	5	23800811	missense	probably damaging	0.99
R5452:Rint1	UTSW	5	23794365	missense	probably benign	0.01
R5566:Rint1	UTSW	5	23810953	missense	probably damaging	1.00
R5709:Rint1	UTSW	5	23815833	missense	probably damaging	0.98
R6524:Rint1	UTSW	5	23815739	missense	probably benign	0.00
R7346:Rint1	UTSW	5	23815653	missense	possibly damaging	0.82
R7549:Rint1	UTSW	5	23815704	missense	probably benign
R7634:Rint1	UTSW	5	23805479	missense	probably benign	0.00
R7647:Rint1	UTSW	5	23800802	missense	probably damaging	1.00
R7885:Rint1	UTSW	5	23805644	missense	probably benign
R7895:Rint1	UTSW	5	23800722	missense	probably damaging	0.99
R8347:Rint1	UTSW	5	23811772	missense	probably damaging	1.00
R8791:Rint1	UTSW	5	23800596	missense	probably damaging	0.99
R8900:Rint1	UTSW	5	23811884	missense	possibly damaging	0.77
R8916:Rint1	UTSW	5	23787828	unclassified	probably benign
R8973:Rint1	UTSW	5	23811730	missense	probably benign	0.00
R9339:Rint1	UTSW	5	23788357	makesense	probably null
R9630:Rint1	UTSW	5	23815812	missense	possibly damaging	0.82
R9718:Rint1	UTSW	5	23800723	missense	possibly damaging	0.53
Z1088:Rint1	UTSW	5	23805314	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- GTGATGGTTTAGTCAGCACAGTG -3'
(R):5'- AAGACTTCCTCAAAATCACTGTAACA -3'

Sequencing Primer
(F):5'- GACTCCAGGTGAATTACTGAGCTC -3'
(R):5'- TGTAACAGAAAAGAAACAATGCTTCC -3'

Posted On

2022-03-25