Incidental Mutation 'R7885:Rint1'
ID |
609001 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Rint1
|
Ensembl Gene |
ENSMUSG00000028999 |
Gene Name |
RAD50 interactor 1 |
Synonyms |
1500019C06Rik, 2810450M21Rik |
MMRRC Submission |
045937-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R7885 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
5 |
Chromosomal Location |
23992709-24025367 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 24010642 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Glycine
at position 255
(S255G)
|
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: S255G
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000030852 Gene: ENSMUSG00000028999 AA Change: S255G
Domain | Start | End | E-Value | Type |
Pfam:RINT1_TIP1
|
304 |
784 |
2.3e-135 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000115113
AA Change: S197G
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000110766 Gene: ENSMUSG00000028999 AA Change: S197G
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: 99.7%
- 20x: 99.1%
|
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: 52 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adarb1 |
A |
G |
10: 77,131,542 (GRCm39) |
V649A |
possibly damaging |
Het |
Arglu1 |
C |
T |
8: 8,717,337 (GRCm39) |
R244H |
possibly damaging |
Het |
Asic5 |
A |
T |
3: 81,913,812 (GRCm39) |
Y204F |
probably benign |
Het |
Asz1 |
A |
G |
6: 18,104,876 (GRCm39) |
F76S |
probably damaging |
Het |
Bin1 |
G |
A |
18: 32,552,896 (GRCm39) |
A174T |
probably damaging |
Het |
Bnipl |
A |
C |
3: 95,157,551 (GRCm39) |
S23A |
probably benign |
Het |
Cd19 |
T |
C |
7: 126,011,303 (GRCm39) |
T294A |
probably benign |
Het |
Cdon |
G |
A |
9: 35,367,818 (GRCm39) |
V238I |
probably benign |
Het |
Chd3 |
A |
T |
11: 69,247,451 (GRCm39) |
D957E |
probably benign |
Het |
Crhbp |
T |
C |
13: 95,568,515 (GRCm39) |
Q307R |
probably damaging |
Het |
Cst3 |
A |
G |
2: 148,714,741 (GRCm39) |
M112T |
probably benign |
Het |
Dgkb |
A |
G |
12: 38,189,425 (GRCm39) |
E276G |
probably damaging |
Het |
Exoc4 |
T |
A |
6: 33,735,001 (GRCm39) |
N539K |
probably benign |
Het |
Gm3099 |
A |
G |
14: 15,345,429 (GRCm39) |
E85G |
probably benign |
Het |
Gpatch2 |
A |
G |
1: 186,957,698 (GRCm39) |
|
probably null |
Het |
Hs3st5 |
T |
A |
10: 36,704,776 (GRCm39) |
Y26* |
probably null |
Het |
Hspg2 |
A |
T |
4: 137,244,148 (GRCm39) |
D802V |
probably damaging |
Het |
Ifih1 |
A |
G |
2: 62,431,813 (GRCm39) |
V846A |
possibly damaging |
Het |
Lama4 |
T |
A |
10: 38,964,840 (GRCm39) |
S1402T |
probably benign |
Het |
Lrmda |
A |
G |
14: 22,648,388 (GRCm39) |
T73A |
unknown |
Het |
Lrrc1 |
A |
T |
9: 77,349,471 (GRCm39) |
V365E |
probably damaging |
Het |
Lrrc37a |
T |
A |
11: 103,393,868 (GRCm39) |
Q519L |
probably benign |
Het |
Mlc1 |
G |
T |
15: 88,862,107 (GRCm39) |
D36E |
probably benign |
Het |
Mrc2 |
A |
T |
11: 105,223,092 (GRCm39) |
D445V |
probably damaging |
Het |
Muc16 |
A |
G |
9: 18,550,760 (GRCm39) |
S5178P |
probably benign |
Het |
Nbea |
A |
G |
3: 55,573,110 (GRCm39) |
I2491T |
probably damaging |
Het |
Ncoa1 |
A |
G |
12: 4,389,044 (GRCm39) |
I77T |
probably damaging |
Het |
Npepps |
G |
T |
11: 97,109,474 (GRCm39) |
H701N |
probably damaging |
Het |
Or4n4b |
T |
G |
14: 50,536,041 (GRCm39) |
T242P |
probably damaging |
Het |
Or7g22 |
A |
T |
9: 19,048,831 (GRCm39) |
I181F |
possibly damaging |
Het |
Pclo |
T |
TTCTAG |
5: 14,764,209 (GRCm39) |
|
probably null |
Het |
Pclo |
GTCTAT |
GTCTATTCTAT |
5: 14,764,204 (GRCm39) |
|
probably null |
Het |
Pclo |
TCTAT |
TCTATACTAT |
5: 14,764,205 (GRCm39) |
|
probably null |
Het |
Pi4kb |
T |
C |
3: 94,906,387 (GRCm39) |
Y645H |
probably damaging |
Het |
Pik3r5 |
C |
T |
11: 68,383,528 (GRCm39) |
A449V |
possibly damaging |
Het |
Plat |
A |
G |
8: 23,261,736 (GRCm39) |
T45A |
probably benign |
Het |
Platr25 |
T |
C |
13: 62,848,676 (GRCm39) |
K62R |
possibly damaging |
Het |
Ppp5c |
A |
G |
7: 16,740,111 (GRCm39) |
V410A |
possibly damaging |
Het |
Prdm2 |
C |
T |
4: 142,861,140 (GRCm39) |
A717T |
probably benign |
Het |
Pstpip2 |
C |
A |
18: 77,882,422 (GRCm39) |
T2K |
probably benign |
Het |
Ptpn12 |
A |
C |
5: 21,203,523 (GRCm39) |
S418R |
possibly damaging |
Het |
Rmc1 |
T |
C |
18: 12,322,371 (GRCm39) |
L608P |
probably damaging |
Het |
Sltm |
C |
G |
9: 70,493,955 (GRCm39) |
P802R |
possibly damaging |
Het |
Stab2 |
T |
C |
10: 86,714,776 (GRCm39) |
H1581R |
probably benign |
Het |
Stau2 |
T |
C |
1: 16,530,577 (GRCm39) |
Y114C |
unknown |
Het |
Ticam1 |
T |
C |
17: 56,578,067 (GRCm39) |
T343A |
probably benign |
Het |
Tmem131l |
T |
C |
3: 83,817,724 (GRCm39) |
K1259E |
possibly damaging |
Het |
Vmn2r103 |
T |
A |
17: 20,013,385 (GRCm39) |
F169I |
probably benign |
Het |
Vps33a |
T |
C |
5: 123,673,312 (GRCm39) |
K425E |
possibly damaging |
Het |
Vwa8 |
T |
C |
14: 79,258,089 (GRCm39) |
M746T |
probably benign |
Het |
Zc3hav1 |
A |
G |
6: 38,313,598 (GRCm39) |
I149T |
possibly damaging |
Het |
Zfp708 |
A |
T |
13: 67,222,193 (GRCm39) |
D62E |
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 |
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 |
PCR Primer
(F):5'- AGCTTACCAGGCAGGAAATGTC -3'
(R):5'- CATGGCCACTTGGAAACCTTTC -3'
Sequencing Primer
(F):5'- AGGAAATGTCTCCTGTTGACTGC -3'
(R):5'- CCTGACTGTGGAGGCTGATC -3'
|
Posted On |
2019-12-20 |