Incidental Mutation 'IGL02329:Rita1'
| ID |
288605 |
| 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 # |
IGL02329
|
| 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: 32 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Atg2a |
T |
C |
19: 6,299,959 (GRCm39) |
|
probably null |
Het |
| Bfsp1 |
T |
C |
2: 143,704,566 (GRCm39) |
T96A |
probably benign |
Het |
| Btnl1 |
A |
G |
17: 34,601,239 (GRCm39) |
E322G |
possibly damaging |
Het |
| Cand2 |
T |
C |
6: 115,766,568 (GRCm39) |
V391A |
probably damaging |
Het |
| Ccdc169 |
A |
G |
3: 55,078,702 (GRCm39) |
M188V |
probably benign |
Het |
| Cngb1 |
T |
C |
8: 95,968,987 (GRCm39) |
I1174V |
probably benign |
Het |
| Cpeb4 |
T |
C |
11: 31,822,316 (GRCm39) |
V10A |
possibly damaging |
Het |
| Cpt1b |
T |
C |
15: 89,307,942 (GRCm39) |
T206A |
probably benign |
Het |
| Dapk3 |
T |
C |
10: 81,025,999 (GRCm39) |
S97P |
probably benign |
Het |
| Drc3 |
T |
C |
11: 60,261,404 (GRCm39) |
L185P |
probably damaging |
Het |
| Efr3b |
T |
C |
12: 4,042,923 (GRCm39) |
|
probably null |
Het |
| Erbb3 |
T |
A |
10: 128,409,088 (GRCm39) |
I742F |
probably damaging |
Het |
| Fktn |
A |
G |
4: 53,720,181 (GRCm39) |
Y65C |
probably benign |
Het |
| Fstl5 |
G |
A |
3: 76,496,302 (GRCm39) |
G355D |
probably damaging |
Het |
| Grm8 |
A |
T |
6: 27,363,115 (GRCm39) |
I800N |
probably damaging |
Het |
| Gss |
C |
T |
2: 155,409,773 (GRCm39) |
R221H |
probably benign |
Het |
| H2-M10.4 |
A |
T |
17: 36,771,359 (GRCm39) |
V273D |
probably damaging |
Het |
| Large1 |
C |
A |
8: 73,774,945 (GRCm39) |
W255L |
possibly damaging |
Het |
| Meig1 |
T |
C |
2: 3,410,288 (GRCm39) |
K71E |
probably damaging |
Het |
| Mtor |
A |
G |
4: 148,619,396 (GRCm39) |
N1760D |
probably benign |
Het |
| Ncapd2 |
A |
T |
6: 125,166,781 (GRCm39) |
N24K |
probably damaging |
Het |
| Nphp3 |
A |
C |
9: 103,903,167 (GRCm39) |
S715R |
probably benign |
Het |
| Papolg |
T |
G |
11: 23,841,869 (GRCm39) |
H18P |
probably damaging |
Het |
| Psd |
T |
C |
19: 46,308,098 (GRCm39) |
H667R |
possibly damaging |
Het |
| Rtp1 |
T |
C |
16: 23,249,943 (GRCm39) |
S103P |
probably damaging |
Het |
| Snx21 |
T |
C |
2: 164,634,310 (GRCm39) |
|
probably benign |
Het |
| Spmip3 |
A |
T |
1: 177,570,867 (GRCm39) |
Q67L |
probably benign |
Het |
| Tiam1 |
G |
T |
16: 89,596,924 (GRCm39) |
H301N |
probably benign |
Het |
| Trcg1 |
A |
T |
9: 57,147,676 (GRCm39) |
I11F |
possibly damaging |
Het |
| Trpm6 |
A |
G |
19: 18,831,581 (GRCm39) |
K1482R |
probably benign |
Het |
| Tyw1 |
G |
T |
5: 130,295,921 (GRCm39) |
G116V |
probably benign |
Het |
| Zfp341 |
T |
C |
2: 154,474,224 (GRCm39) |
C343R |
possibly damaging |
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 |
|
IGL02315: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 |
|
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