Incidental Mutation 'R5246:Rint1'
| ID |
401148 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Rint1
|
| Ensembl Gene |
ENSMUSG00000028999 |
| Gene Name |
RAD50 interactor 1 |
| Synonyms |
1500019C06Rik, 2810450M21Rik |
| MMRRC Submission |
042817-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R5246 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
5 |
| Chromosomal Location |
23992709-24025367 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 24005809 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tryptophan to Arginine
at position 164
(W164R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000110766
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000030852]
[ENSMUST00000115113]
|
| AlphaFold |
Q8BZ36 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000030852
AA Change: W164R
PolyPhen 2
Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000030852
Gene: ENSMUSG00000028999
AA Change: W164R
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:RINT1_TIP1
|
304 |
784 |
2.3e-135 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000112256
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000115113
AA Change: W164R
PolyPhen 2
Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000110766
Gene: ENSMUSG00000028999
AA Change: W164R
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:RINT1_TIP1
|
246 |
727 |
1.2e-161 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000124680
|
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.3%
- 10x: 96.3%
- 20x: 92.3%
|
| 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: 30 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgrg6 |
T |
A |
10: 14,302,509 (GRCm39) |
Y968F |
probably damaging |
Het |
| Bltp1 |
G |
A |
3: 37,102,199 (GRCm39) |
R1299Q |
probably damaging |
Het |
| Brwd1 |
G |
A |
16: 95,803,757 (GRCm39) |
P2138S |
probably damaging |
Het |
| Cdkl4 |
T |
A |
17: 80,846,913 (GRCm39) |
|
probably null |
Het |
| Cep55 |
T |
A |
19: 38,058,119 (GRCm39) |
D237E |
probably benign |
Het |
| Clhc1 |
T |
A |
11: 29,525,434 (GRCm39) |
S503T |
probably damaging |
Het |
| Cybb |
C |
G |
X: 9,316,989 (GRCm39) |
D246H |
probably benign |
Het |
| Efcab5 |
T |
C |
11: 77,079,671 (GRCm39) |
Y25C |
probably damaging |
Het |
| Eif3c |
G |
A |
7: 126,156,410 (GRCm39) |
T444I |
possibly damaging |
Het |
| Epb41l4b |
G |
T |
4: 57,040,989 (GRCm39) |
N491K |
probably damaging |
Het |
| Gm9776 |
A |
T |
13: 94,495,065 (GRCm39) |
|
probably benign |
Het |
| Lrcol1 |
A |
C |
5: 110,502,377 (GRCm39) |
E84D |
possibly damaging |
Het |
| Lrp1b |
A |
G |
2: 41,360,952 (GRCm39) |
|
probably null |
Het |
| Mup5 |
T |
A |
4: 61,752,874 (GRCm39) |
I50L |
probably benign |
Het |
| Myo16 |
A |
T |
8: 10,612,212 (GRCm39) |
K1286* |
probably null |
Het |
| Pramel22 |
G |
T |
4: 143,382,127 (GRCm39) |
P190T |
probably benign |
Het |
| Prss46 |
T |
A |
9: 110,679,102 (GRCm39) |
V101D |
probably damaging |
Het |
| Rnf139 |
G |
A |
15: 58,771,552 (GRCm39) |
V526I |
probably damaging |
Het |
| Rptn |
A |
T |
3: 93,304,140 (GRCm39) |
D491V |
probably damaging |
Het |
| Rptn |
A |
G |
3: 93,305,036 (GRCm39) |
T790A |
possibly damaging |
Het |
| Scn8a |
T |
C |
15: 100,908,938 (GRCm39) |
L802P |
probably damaging |
Het |
| Scrib |
T |
C |
15: 75,936,646 (GRCm39) |
E435G |
probably benign |
Het |
| Sdk1 |
C |
A |
5: 142,100,317 (GRCm39) |
T1449K |
possibly damaging |
Het |
| Septin7 |
T |
A |
9: 25,210,832 (GRCm39) |
L289M |
probably damaging |
Het |
| Spry1 |
A |
G |
3: 37,696,916 (GRCm39) |
Y53C |
probably damaging |
Het |
| Srpk3 |
C |
T |
X: 72,818,555 (GRCm39) |
R82* |
probably null |
Het |
| Tmcc1 |
A |
G |
6: 116,020,381 (GRCm39) |
V142A |
probably damaging |
Het |
| Vmn2r45 |
T |
G |
7: 8,486,251 (GRCm39) |
T346P |
probably benign |
Het |
| Wdr25 |
A |
G |
12: 108,993,382 (GRCm39) |
I533V |
probably benign |
Het |
| Zfp292 |
A |
C |
4: 34,805,842 (GRCm39) |
Y2401D |
possibly damaging |
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 |
|
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 |
PCR Primer
(F):5'- GCTTTAAAAGATGCAGAGGAATCC -3'
(R):5'- GTTCAAAATGCAACTGCTTAGC -3'
Sequencing Primer
(F):5'- TGCAGAGGAATCCAAACAACTTCTTG -3'
(R):5'- TTTAACTTACAGAGGGCAGCCTG -3'
|
| Posted On |
2016-07-06 |
Incidental Mutation