Incidental Mutation 'R3704:Raet1e'
| ID |
258658 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Raet1e
|
| Ensembl Gene |
ENSMUSG00000053219 |
| Gene Name |
retinoic acid early transcript 1E |
| Synonyms |
Rae-1 epsilon |
| MMRRC Submission |
040697-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.676)
|
| Stock # |
R3704 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
10 |
| Chromosomal Location |
22034441-22059820 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 22056744 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 107
(T107A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000138022
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000065527]
[ENSMUST00000105522]
[ENSMUST00000178026]
[ENSMUST00000180648]
[ENSMUST00000181645]
|
| AlphaFold |
Q9CZQ6 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000065527
AA Change: T107A
PolyPhen 2
Score 0.197 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000066627
Gene: ENSMUSG00000053219
AA Change: T107A
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
28 |
N/A |
INTRINSIC |
|
Pfam:MHC_I_2
|
31 |
202 |
1e-121 |
PFAM |
|
low complexity region
|
209 |
229 |
N/A |
INTRINSIC |
|
transmembrane domain
|
233 |
250 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000105522
|
| SMART Domains |
Protein: ENSMUSP00000101161
Gene: ENSMUSG00000075297
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
24 |
N/A |
INTRINSIC |
|
PDB:4G59|B
|
29 |
195 |
2e-9 |
PDB |
|
transmembrane domain
|
211 |
233 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000178026
AA Change: T107A
PolyPhen 2
Score 0.197 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000136032
Gene: ENSMUSG00000053219
AA Change: T107A
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
28 |
N/A |
INTRINSIC |
|
Pfam:MHC_I_2
|
31 |
202 |
7.3e-112 |
PFAM |
|
low complexity region
|
209 |
229 |
N/A |
INTRINSIC |
|
transmembrane domain
|
233 |
250 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000180648
|
| SMART Domains |
Protein: ENSMUSP00000137946
Gene: ENSMUSG00000053219
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
28 |
N/A |
INTRINSIC |
|
Pfam:MHC_I_2
|
31 |
66 |
3.8e-20 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000181645
AA Change: T107A
PolyPhen 2
Score 0.197 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000138022
Gene: ENSMUSG00000053219
AA Change: T107A
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
28 |
N/A |
INTRINSIC |
|
Pfam:MHC_I_2
|
31 |
202 |
1e-121 |
PFAM |
|
low complexity region
|
209 |
229 |
N/A |
INTRINSIC |
|
transmembrane domain
|
233 |
250 |
N/A |
INTRINSIC |
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.0%
- 3x: 98.3%
- 10x: 96.4%
- 20x: 91.8%
|
| Validation Efficiency |
100% (49/49) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 42 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 9930111J21Rik1 |
T |
C |
11: 48,838,803 (GRCm39) |
T595A |
possibly damaging |
Het |
| Akap13 |
T |
C |
7: 75,316,298 (GRCm39) |
C585R |
probably damaging |
Het |
| Akr1b10 |
G |
T |
6: 34,371,689 (GRCm39) |
D285Y |
probably damaging |
Het |
| Akr1b10 |
A |
G |
6: 34,371,690 (GRCm39) |
D257G |
probably benign |
Het |
| Ankrd17 |
A |
T |
5: 90,391,828 (GRCm39) |
N1838K |
possibly damaging |
Het |
| Asap3 |
TGAGGAGGAGGAGGAGGA |
TGAGGAGGAGGAGGAGGAGGA |
4: 135,968,552 (GRCm39) |
|
probably benign |
Het |
| Bcap29 |
T |
C |
12: 31,667,151 (GRCm39) |
H170R |
probably benign |
Het |
| Brwd3 |
A |
G |
X: 107,804,021 (GRCm39) |
|
probably benign |
Het |
| Capn1 |
T |
C |
19: 6,057,401 (GRCm39) |
E349G |
probably damaging |
Het |
| Cd27 |
C |
T |
6: 125,210,361 (GRCm39) |
C222Y |
probably damaging |
Het |
| Cdh12 |
C |
A |
15: 21,583,912 (GRCm39) |
T584K |
probably damaging |
Het |
| Col13a1 |
A |
G |
10: 61,703,608 (GRCm39) |
|
probably null |
Het |
| Col22a1 |
T |
C |
15: 71,842,156 (GRCm39) |
T443A |
probably damaging |
Het |
| Crisp3 |
A |
G |
17: 40,546,848 (GRCm39) |
|
probably benign |
Het |
| Cubn |
T |
A |
2: 13,355,754 (GRCm39) |
H1826L |
probably damaging |
Het |
| Eci2 |
A |
G |
13: 35,177,216 (GRCm39) |
|
probably benign |
Het |
| Fat2 |
A |
C |
11: 55,200,476 (GRCm39) |
F866C |
probably damaging |
Het |
| Fbxl7 |
C |
A |
15: 26,543,841 (GRCm39) |
G269C |
probably damaging |
Het |
| Hjurp |
G |
C |
1: 88,204,937 (GRCm39) |
|
probably benign |
Het |
| Ifi35 |
G |
A |
11: 101,339,430 (GRCm39) |
M1I |
probably null |
Het |
| Jarid2 |
A |
G |
13: 45,055,831 (GRCm39) |
T308A |
probably benign |
Het |
| Kcnq3 |
A |
G |
15: 65,893,588 (GRCm39) |
|
probably null |
Het |
| Kcnt2 |
C |
T |
1: 140,461,706 (GRCm39) |
T819M |
probably damaging |
Het |
| Kifc3 |
G |
A |
8: 95,830,656 (GRCm39) |
|
probably benign |
Het |
| Mill1 |
A |
G |
7: 17,996,978 (GRCm39) |
T190A |
possibly damaging |
Het |
| Mosmo |
A |
G |
7: 120,329,828 (GRCm39) |
I150V |
probably damaging |
Het |
| Nemf |
C |
A |
12: 69,377,904 (GRCm39) |
D566Y |
probably damaging |
Het |
| Nisch |
A |
G |
14: 30,898,702 (GRCm39) |
|
probably benign |
Het |
| Or8b101 |
T |
A |
9: 38,020,299 (GRCm39) |
F106I |
possibly damaging |
Het |
| Paip2 |
A |
G |
18: 35,743,974 (GRCm39) |
T9A |
probably benign |
Het |
| Pde5a |
T |
C |
3: 122,572,668 (GRCm39) |
S318P |
probably benign |
Het |
| Plcd1 |
T |
C |
9: 118,905,277 (GRCm39) |
I145V |
possibly damaging |
Het |
| Prl2c2 |
C |
T |
13: 13,176,810 (GRCm39) |
R37H |
probably damaging |
Het |
| Reps1 |
T |
G |
10: 17,983,428 (GRCm39) |
F424V |
probably damaging |
Het |
| Skint6 |
A |
T |
4: 112,993,669 (GRCm39) |
V401D |
possibly damaging |
Het |
| Srgn |
T |
C |
10: 62,333,609 (GRCm39) |
D56G |
probably damaging |
Het |
| Tmem63a |
G |
A |
1: 180,790,679 (GRCm39) |
D446N |
possibly damaging |
Het |
| Ttn |
A |
T |
2: 76,662,124 (GRCm39) |
|
probably benign |
Het |
| Ugt2b37 |
A |
T |
5: 87,390,846 (GRCm39) |
F340L |
possibly damaging |
Het |
| Xirp1 |
T |
A |
9: 120,016,907 (GRCm38) |
Q970L |
probably benign |
Het |
| Zfr2 |
T |
G |
10: 81,081,913 (GRCm39) |
V493G |
probably benign |
Het |
| Zmat4 |
A |
G |
8: 24,287,430 (GRCm39) |
R59G |
probably benign |
Het |
|
| Other mutations in Raet1e |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01077:Raet1e
|
APN |
10 |
22,057,219 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02406:Raet1e
|
APN |
10 |
22,056,535 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02484:Raet1e
|
APN |
10 |
22,056,666 (GRCm39) |
missense |
probably benign |
0.01 |
|
R0049:Raet1e
|
UTSW |
10 |
22,056,761 (GRCm39) |
missense |
possibly damaging |
0.65 |
|
R0238:Raet1e
|
UTSW |
10 |
22,056,761 (GRCm39) |
missense |
possibly damaging |
0.65 |
|
R0238:Raet1e
|
UTSW |
10 |
22,056,761 (GRCm39) |
missense |
possibly damaging |
0.65 |
|
R0239:Raet1e
|
UTSW |
10 |
22,056,761 (GRCm39) |
missense |
possibly damaging |
0.65 |
|
R0639:Raet1e
|
UTSW |
10 |
22,050,274 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0885:Raet1e
|
UTSW |
10 |
22,057,986 (GRCm39) |
unclassified |
probably benign |
|
|
R4764:Raet1e
|
UTSW |
10 |
22,057,231 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4799:Raet1e
|
UTSW |
10 |
22,057,199 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5566:Raet1e
|
UTSW |
10 |
22,050,304 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6034:Raet1e
|
UTSW |
10 |
22,057,990 (GRCm39) |
makesense |
probably null |
|
|
R6034:Raet1e
|
UTSW |
10 |
22,057,990 (GRCm39) |
makesense |
probably null |
|
|
R6077:Raet1e
|
UTSW |
10 |
22,057,887 (GRCm39) |
missense |
possibly damaging |
0.72 |
|
R6238:Raet1e
|
UTSW |
10 |
22,056,770 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6408:Raet1e
|
UTSW |
10 |
22,056,645 (GRCm39) |
missense |
probably benign |
0.29 |
|
R6939:Raet1e
|
UTSW |
10 |
22,050,256 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R7147:Raet1e
|
UTSW |
10 |
22,057,179 (GRCm39) |
missense |
probably benign |
0.29 |
|
R8026:Raet1e
|
UTSW |
10 |
22,057,198 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8771:Raet1e
|
UTSW |
10 |
22,057,041 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9303:Raet1e
|
UTSW |
10 |
22,057,872 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
Z1088:Raet1e
|
UTSW |
10 |
22,057,850 (GRCm39) |
missense |
possibly damaging |
0.56 |
|
| Predicted Primers |
PCR Primer
(F):5'- ACAGATGCACACTCTCTTAGGTG -3'
(R):5'- ACTCATTGTGTACCCTGTGG -3'
Sequencing Primer
(F):5'- ACACTCTCTTAGGTGCAACTTGAC -3'
(R):5'- TACCCTGTGGCTGCAAGGTAC -3'
|
| Posted On |
2015-01-23 |
Incidental Mutation