Incidental Mutation 'R5711:D7Ertd443e'
| ID |
452218 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
D7Ertd443e
|
| Ensembl Gene |
ENSMUSG00000030994 |
| Gene Name |
DNA segment, Chr 7, ERATO Doi 443, expressed |
| Synonyms |
4933400E14Rik |
| MMRRC Submission |
043185-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R5711 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
7 |
| Chromosomal Location |
133867508-134102889 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 133951110 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Tyrosine
at position 188
(N188Y)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000134479
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000094002]
[ENSMUST00000172947]
[ENSMUST00000173195]
[ENSMUST00000173754]
[ENSMUST00000174700]
|
| AlphaFold |
D2J0Y4 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000094002
AA Change: N141Y
PolyPhen 2
Score 0.425 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000091539
Gene: ENSMUSG00000030994
AA Change: N141Y
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
179 |
192 |
N/A |
INTRINSIC |
|
low complexity region
|
238 |
249 |
N/A |
INTRINSIC |
|
low complexity region
|
279 |
292 |
N/A |
INTRINSIC |
|
low complexity region
|
396 |
410 |
N/A |
INTRINSIC |
|
low complexity region
|
478 |
494 |
N/A |
INTRINSIC |
|
Pfam:ALMS_motif
|
511 |
644 |
3.7e-39 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000172947
AA Change: N188Y
PolyPhen 2
Score 0.425 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000134479
Gene: ENSMUSG00000030994
AA Change: N188Y
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
226 |
239 |
N/A |
INTRINSIC |
|
low complexity region
|
285 |
296 |
N/A |
INTRINSIC |
|
low complexity region
|
326 |
339 |
N/A |
INTRINSIC |
|
low complexity region
|
443 |
457 |
N/A |
INTRINSIC |
|
low complexity region
|
525 |
541 |
N/A |
INTRINSIC |
|
Pfam:ALMS_motif
|
559 |
689 |
1.2e-52 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000173195
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000173754
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000174271
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000174700
|
| SMART Domains |
Protein: ENSMUSP00000134411
Gene: ENSMUSG00000030994
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:ALMS_motif
|
25 |
98 |
2.3e-12 |
PFAM |
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.4%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 40 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ak6 |
A |
T |
13: 100,790,722 (GRCm39) |
T18S |
probably damaging |
Het |
| Aqp7 |
G |
A |
4: 41,035,510 (GRCm39) |
T115I |
probably benign |
Het |
| Arhgap19 |
A |
G |
19: 41,773,227 (GRCm39) |
V275A |
possibly damaging |
Het |
| Cebpz |
T |
A |
17: 79,242,040 (GRCm39) |
Q538L |
probably damaging |
Het |
| Chgb |
A |
T |
2: 132,634,618 (GRCm39) |
I187F |
probably benign |
Het |
| Cldn1 |
C |
A |
16: 26,190,167 (GRCm39) |
L70F |
probably damaging |
Het |
| Crybg2 |
A |
T |
4: 133,809,938 (GRCm39) |
D1230V |
probably damaging |
Het |
| Csmd1 |
C |
T |
8: 16,003,703 (GRCm39) |
C2617Y |
probably damaging |
Het |
| Ddx51 |
A |
G |
5: 110,802,790 (GRCm39) |
I214M |
probably benign |
Het |
| Dlg5 |
A |
G |
14: 24,200,716 (GRCm39) |
V1328A |
probably damaging |
Het |
| Dnah2 |
C |
T |
11: 69,326,216 (GRCm39) |
C3639Y |
probably damaging |
Het |
| Dync1i2 |
C |
T |
2: 71,081,326 (GRCm39) |
T511I |
probably benign |
Het |
| Fam220a |
A |
T |
5: 143,549,212 (GRCm39) |
E208V |
probably damaging |
Het |
| Gm4846 |
T |
C |
1: 166,311,594 (GRCm39) |
S422G |
probably benign |
Het |
| Grin2c |
C |
T |
11: 115,141,115 (GRCm39) |
R1001Q |
probably benign |
Het |
| H2-T3 |
T |
C |
17: 36,498,301 (GRCm39) |
E248G |
probably damaging |
Het |
| Idi2 |
T |
C |
13: 9,008,518 (GRCm39) |
V92A |
probably benign |
Het |
| Iqcd |
C |
T |
5: 120,740,571 (GRCm39) |
Q301* |
probably null |
Het |
| Klhl26 |
T |
C |
8: 70,904,974 (GRCm39) |
D278G |
probably damaging |
Het |
| Mok |
G |
T |
12: 110,774,503 (GRCm39) |
T228K |
probably damaging |
Het |
| Or1e22 |
A |
G |
11: 73,377,008 (GRCm39) |
I214T |
probably damaging |
Het |
| Otogl |
G |
A |
10: 107,612,978 (GRCm39) |
|
silent |
Het |
| Pabpc1 |
T |
C |
15: 36,606,074 (GRCm39) |
I101V |
probably benign |
Het |
| Ppargc1a |
G |
T |
5: 51,631,562 (GRCm39) |
Q356K |
probably damaging |
Het |
| Ptprt |
T |
A |
2: 161,652,524 (GRCm39) |
D608V |
probably damaging |
Het |
| Rxfp1 |
C |
T |
3: 79,586,054 (GRCm39) |
C96Y |
probably damaging |
Het |
| Scn11a |
A |
C |
9: 119,618,990 (GRCm39) |
V784G |
probably damaging |
Het |
| Septin4 |
T |
C |
11: 87,458,723 (GRCm39) |
S366P |
probably benign |
Het |
| Slc12a8 |
A |
G |
16: 33,410,679 (GRCm39) |
Y226C |
probably damaging |
Het |
| Slc25a33 |
A |
G |
4: 149,846,914 (GRCm39) |
V49A |
possibly damaging |
Het |
| Slc25a45 |
T |
C |
19: 5,934,451 (GRCm39) |
S140P |
probably benign |
Het |
| Slc35e2 |
C |
T |
4: 155,694,483 (GRCm39) |
P10L |
probably benign |
Het |
| Spty2d1 |
G |
T |
7: 46,647,845 (GRCm39) |
N361K |
possibly damaging |
Het |
| Stk4 |
G |
A |
2: 163,941,674 (GRCm39) |
A297T |
probably benign |
Het |
| Thsd7b |
T |
A |
1: 129,688,139 (GRCm39) |
N683K |
probably damaging |
Het |
| Tln2 |
T |
C |
9: 67,299,829 (GRCm39) |
E141G |
probably benign |
Het |
| Tmem125 |
A |
T |
4: 118,399,216 (GRCm39) |
C72S |
probably damaging |
Het |
| Ttn |
G |
T |
2: 76,572,437 (GRCm39) |
T26152K |
probably damaging |
Het |
| Uhrf1 |
G |
A |
17: 56,627,259 (GRCm39) |
G643D |
possibly damaging |
Het |
| Vmn2r50 |
C |
T |
7: 9,774,299 (GRCm39) |
M532I |
possibly damaging |
Het |
|
| Other mutations in D7Ertd443e |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02159:D7Ertd443e
|
APN |
7 |
133,951,129 (GRCm39) |
missense |
possibly damaging |
0.56 |
|
R0369:D7Ertd443e
|
UTSW |
7 |
133,899,866 (GRCm39) |
missense |
possibly damaging |
0.56 |
|
R0501:D7Ertd443e
|
UTSW |
7 |
133,896,701 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1073:D7Ertd443e
|
UTSW |
7 |
133,871,947 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1083:D7Ertd443e
|
UTSW |
7 |
133,950,663 (GRCm39) |
nonsense |
probably null |
|
|
R1744:D7Ertd443e
|
UTSW |
7 |
133,951,142 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1801:D7Ertd443e
|
UTSW |
7 |
133,871,941 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1807:D7Ertd443e
|
UTSW |
7 |
133,895,034 (GRCm39) |
missense |
probably null |
1.00 |
|
R2050:D7Ertd443e
|
UTSW |
7 |
133,868,527 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2273:D7Ertd443e
|
UTSW |
7 |
133,871,930 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2274:D7Ertd443e
|
UTSW |
7 |
133,871,930 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2504:D7Ertd443e
|
UTSW |
7 |
133,951,208 (GRCm39) |
splice site |
probably null |
|
|
R3699:D7Ertd443e
|
UTSW |
7 |
133,950,797 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4348:D7Ertd443e
|
UTSW |
7 |
133,950,682 (GRCm39) |
frame shift |
probably null |
|
|
R4516:D7Ertd443e
|
UTSW |
7 |
133,895,057 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5123:D7Ertd443e
|
UTSW |
7 |
133,951,397 (GRCm39) |
splice site |
probably null |
|
|
R5440:D7Ertd443e
|
UTSW |
7 |
133,951,004 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R5555:D7Ertd443e
|
UTSW |
7 |
133,951,320 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5848:D7Ertd443e
|
UTSW |
7 |
133,951,451 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R6049:D7Ertd443e
|
UTSW |
7 |
133,899,961 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6266:D7Ertd443e
|
UTSW |
7 |
133,951,514 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6408:D7Ertd443e
|
UTSW |
7 |
133,951,440 (GRCm39) |
missense |
probably benign |
0.27 |
|
R6939:D7Ertd443e
|
UTSW |
7 |
133,966,208 (GRCm39) |
splice site |
probably null |
|
|
R7195:D7Ertd443e
|
UTSW |
7 |
133,896,851 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7352:D7Ertd443e
|
UTSW |
7 |
133,951,123 (GRCm39) |
missense |
probably benign |
0.03 |
|
R7737:D7Ertd443e
|
UTSW |
7 |
133,871,930 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7843:D7Ertd443e
|
UTSW |
7 |
133,950,824 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R7845:D7Ertd443e
|
UTSW |
7 |
133,871,977 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8346:D7Ertd443e
|
UTSW |
7 |
133,950,485 (GRCm39) |
missense |
possibly damaging |
0.63 |
|
R9120:D7Ertd443e
|
UTSW |
7 |
133,871,986 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9166:D7Ertd443e
|
UTSW |
7 |
133,900,048 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9773:D7Ertd443e
|
UTSW |
7 |
133,959,803 (GRCm39) |
missense |
probably benign |
0.00 |
|
Z1088:D7Ertd443e
|
UTSW |
7 |
133,896,711 (GRCm39) |
missense |
probably benign |
0.03 |
|
| Predicted Primers |
PCR Primer
(F):5'- TTGGGACACTGCTGAGACAC -3'
(R):5'- TAGGCAAAGGTTCCCACAGC -3'
Sequencing Primer
(F):5'- ACTGCTGAGACACCCGGAAG -3'
(R):5'- AAAGGTTCCCACAGCGGTTTC -3'
|
| Posted On |
2017-01-03 |
Incidental Mutation