Incidental Mutation 'IGL02315:Rita1'
| ID |
288014 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Rita1
|
| Ensembl Gene |
ENSMUSG00000029600 |
| Gene Name |
RBPJ interacting and tubulin associated 1 |
| Synonyms |
1110008J03Rik |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.179)
|
| Stock # |
IGL02315
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
5 |
| Chromosomal Location |
120747123-120750654 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 120747858 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Alanine to Threonine
at position 147
(A147T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000136946
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000031598]
[ENSMUST00000031599]
[ENSMUST00000069259]
[ENSMUST00000094391]
[ENSMUST00000111884]
[ENSMUST00000140554]
[ENSMUST00000177800]
[ENSMUST00000156356]
|
| AlphaFold |
Q9D1H0 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000031598
|
| SMART Domains |
Protein: ENSMUSP00000031598
Gene: ENSMUSG00000029599
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
4 |
15 |
N/A |
INTRINSIC |
|
Blast:DEXDc
|
59 |
101 |
9e-19 |
BLAST |
|
DEXDc
|
114 |
313 |
3.5e-58 |
SMART |
|
HELICc
|
347 |
432 |
7.86e-20 |
SMART |
|
low complexity region
|
628 |
646 |
N/A |
INTRINSIC |
|
DBP10CT
|
706 |
766 |
1.45e-25 |
SMART |
|
low complexity region
|
778 |
801 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000031599
AA Change: A147T
PolyPhen 2
Score 0.976 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000031599
Gene: ENSMUSG00000029600
AA Change: A147T
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
235 |
251 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000069259
|
| SMART Domains |
Protein: ENSMUSP00000069167
Gene: ENSMUSG00000029601
| Domain | Start | End | E-Value | Type |
|---|
|
coiled coil region
|
97 |
137 |
N/A |
INTRINSIC |
|
coiled coil region
|
209 |
257 |
N/A |
INTRINSIC |
|
coiled coil region
|
298 |
348 |
N/A |
INTRINSIC |
|
IQ
|
363 |
385 |
5.53e-4 |
SMART |
|
low complexity region
|
387 |
425 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000094391
|
| SMART Domains |
Protein: ENSMUSP00000091955
Gene: ENSMUSG00000029601
| Domain | Start | End | E-Value | Type |
|---|
|
coiled coil region
|
97 |
137 |
N/A |
INTRINSIC |
|
coiled coil region
|
209 |
257 |
N/A |
INTRINSIC |
|
coiled coil region
|
331 |
381 |
N/A |
INTRINSIC |
|
IQ
|
396 |
418 |
5.53e-4 |
SMART |
|
low complexity region
|
420 |
458 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000111884
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000136070
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000140554
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000177800
AA Change: A147T
PolyPhen 2
Score 0.976 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000136946
Gene: ENSMUSG00000029600
AA Change: A147T
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:RITA
|
1 |
253 |
2.5e-105 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000202672
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000147596
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000156356
|
| SMART Domains |
Protein: ENSMUSP00000122910
Gene: ENSMUSG00000029600
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
81 |
91 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 33 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930402F06Rik |
T |
A |
2: 35,266,185 (GRCm39) |
I162F |
probably damaging |
Het |
| Akap8 |
T |
C |
17: 32,524,475 (GRCm39) |
D607G |
probably benign |
Het |
| Ap2b1 |
G |
A |
11: 83,227,625 (GRCm39) |
V327I |
probably damaging |
Het |
| Bmpr1b |
A |
G |
3: 141,563,290 (GRCm39) |
V218A |
probably damaging |
Het |
| Cfap157 |
T |
A |
2: 32,668,177 (GRCm39) |
D421V |
probably benign |
Het |
| Ctsm |
A |
G |
13: 61,687,462 (GRCm39) |
V100A |
probably benign |
Het |
| Cwf19l2 |
C |
T |
9: 3,410,030 (GRCm39) |
T53I |
probably damaging |
Het |
| Dst |
T |
C |
1: 34,237,746 (GRCm39) |
C3663R |
probably damaging |
Het |
| Fbxo10 |
T |
A |
4: 45,062,469 (GRCm39) |
H19L |
probably benign |
Het |
| Ghitm |
A |
T |
14: 36,853,521 (GRCm39) |
N106K |
probably benign |
Het |
| Hivep2 |
T |
C |
10: 14,006,983 (GRCm39) |
F1194L |
probably benign |
Het |
| Hpse2 |
A |
G |
19: 42,955,386 (GRCm39) |
|
probably benign |
Het |
| Ighv1-67 |
C |
T |
12: 115,567,687 (GRCm39) |
G56D |
probably benign |
Het |
| Ikzf4 |
A |
G |
10: 128,470,014 (GRCm39) |
F502S |
probably damaging |
Het |
| Lrrc24 |
A |
T |
15: 76,602,506 (GRCm39) |
F126L |
probably damaging |
Het |
| Mapt |
G |
A |
11: 104,218,904 (GRCm39) |
R355Q |
probably damaging |
Het |
| Mug1 |
T |
A |
6: 121,817,126 (GRCm39) |
V65E |
probably benign |
Het |
| Myh6 |
T |
C |
14: 55,191,291 (GRCm39) |
E850G |
probably damaging |
Het |
| Myh9 |
C |
A |
15: 77,654,173 (GRCm39) |
V1211L |
probably benign |
Het |
| Naip2 |
T |
A |
13: 100,297,744 (GRCm39) |
D764V |
probably damaging |
Het |
| Or8d2b |
G |
A |
9: 38,789,353 (GRCm39) |
V294I |
probably damaging |
Het |
| Parp6 |
A |
G |
9: 59,549,021 (GRCm39) |
|
probably benign |
Het |
| Ppp4r4 |
C |
T |
12: 103,566,620 (GRCm39) |
|
probably benign |
Het |
| Pramel11 |
T |
C |
4: 143,624,498 (GRCm39) |
|
probably benign |
Het |
| Pxylp1 |
A |
G |
9: 96,721,196 (GRCm39) |
L56P |
probably damaging |
Het |
| Skida1 |
T |
C |
2: 18,050,816 (GRCm39) |
|
probably benign |
Het |
| Slc35d2 |
A |
G |
13: 64,254,849 (GRCm39) |
S210P |
possibly damaging |
Het |
| Slit2 |
C |
T |
5: 48,145,213 (GRCm39) |
T71M |
probably damaging |
Het |
| Spem2 |
A |
T |
11: 69,708,191 (GRCm39) |
L258Q |
probably damaging |
Het |
| Stxbp2 |
C |
T |
8: 3,685,607 (GRCm39) |
|
probably benign |
Het |
| Vit |
G |
A |
17: 78,930,087 (GRCm39) |
V351I |
possibly damaging |
Het |
| Zwilch |
A |
G |
9: 64,057,549 (GRCm39) |
S285P |
probably damaging |
Het |
| Zzef1 |
A |
T |
11: 72,766,083 (GRCm39) |
R1537* |
probably null |
Het |
|
| Other mutations in Rita1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02269:Rita1
|
APN |
5 |
120,747,858 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL02273:Rita1
|
APN |
5 |
120,747,858 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL02274:Rita1
|
APN |
5 |
120,747,858 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL02302:Rita1
|
APN |
5 |
120,747,858 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL02313:Rita1
|
APN |
5 |
120,747,858 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL02326:Rita1
|
APN |
5 |
120,747,858 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL02329:Rita1
|
APN |
5 |
120,747,858 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL02330:Rita1
|
APN |
5 |
120,747,858 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL02331:Rita1
|
APN |
5 |
120,747,858 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL02750:Rita1
|
APN |
5 |
120,747,716 (GRCm39) |
missense |
possibly damaging |
0.58 |
|
R0360:Rita1
|
UTSW |
5 |
120,747,837 (GRCm39) |
missense |
probably benign |
0.02 |
|
R0490:Rita1
|
UTSW |
5 |
120,749,630 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1822:Rita1
|
UTSW |
5 |
120,747,645 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
R2440:Rita1
|
UTSW |
5 |
120,748,004 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4429:Rita1
|
UTSW |
5 |
120,747,626 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R4870:Rita1
|
UTSW |
5 |
120,749,448 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5009:Rita1
|
UTSW |
5 |
120,749,448 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5941:Rita1
|
UTSW |
5 |
120,747,626 (GRCm39) |
missense |
probably benign |
0.35 |
|
R6475:Rita1
|
UTSW |
5 |
120,749,635 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7749:Rita1
|
UTSW |
5 |
120,749,506 (GRCm39) |
missense |
probably benign |
0.23 |
|
R8313:Rita1
|
UTSW |
5 |
120,747,716 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
| Posted On |
2015-04-16 |
Incidental Mutation