Incidental Mutation 'R1073:D7Ertd443e'
| ID |
85527 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
D7Ertd443e
|
| Ensembl Gene |
ENSMUSG00000030994 |
| Gene Name |
DNA segment, Chr 7, ERATO Doi 443, expressed |
| Synonyms |
4933400E14Rik |
| MMRRC Submission |
039159-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R1073 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
133867508-134102889 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 133871947 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Arginine
at position 232
(K232R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000101735
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000094002]
[ENSMUST00000106129]
[ENSMUST00000172947]
[ENSMUST00000174700]
|
| AlphaFold |
D2J0Y4 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000094002
AA Change: K591R
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000091539
Gene: ENSMUSG00000030994
AA Change: K591R
| 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 damaging
Transcript: ENSMUST00000106129
AA Change: K232R
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000101735
Gene: ENSMUSG00000030994
AA Change: K232R
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
37 |
51 |
N/A |
INTRINSIC |
|
low complexity region
|
119 |
135 |
N/A |
INTRINSIC |
|
Pfam:ALMS_motif
|
152 |
285 |
7.4e-40 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000172947
AA Change: K638R
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000134479
Gene: ENSMUSG00000030994
AA Change: K638R
| 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 |
possibly damaging
Transcript: ENSMUST00000174700
AA Change: K82R
PolyPhen 2
Score 0.934 (Sensitivity: 0.80; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000134411
Gene: ENSMUSG00000030994
AA Change: K82R
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:ALMS_motif
|
25 |
98 |
2.3e-12 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000206005
|
| Meta Mutation Damage Score |
0.1373 |
| Coding Region Coverage |
- 1x: 99.7%
- 3x: 99.1%
- 10x: 97.5%
- 20x: 94.5%
|
| Validation Efficiency |
98% (40/41) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 34 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Asap3 |
T |
C |
4: 135,963,742 (GRCm39) |
I334T |
probably damaging |
Het |
| Atxn7l3 |
C |
G |
11: 102,183,261 (GRCm39) |
|
probably benign |
Het |
| Cacna2d3 |
T |
A |
14: 28,767,580 (GRCm39) |
H765L |
probably damaging |
Het |
| Cngb1 |
A |
G |
8: 96,030,195 (GRCm39) |
|
probably null |
Het |
| Csmd1 |
C |
T |
8: 16,408,477 (GRCm39) |
|
probably benign |
Het |
| Cux1 |
A |
T |
5: 136,281,395 (GRCm39) |
|
probably null |
Het |
| Dock6 |
A |
G |
9: 21,757,814 (GRCm39) |
S97P |
probably benign |
Het |
| Eml5 |
G |
A |
12: 98,797,232 (GRCm39) |
A1099V |
probably damaging |
Het |
| Gtf2h1 |
G |
A |
7: 46,466,368 (GRCm39) |
A472T |
probably damaging |
Het |
| Krt82 |
T |
A |
15: 101,458,689 (GRCm39) |
D117V |
probably damaging |
Het |
| Lrfn5 |
A |
G |
12: 61,887,595 (GRCm39) |
Y461C |
probably damaging |
Het |
| Mmrn2 |
G |
A |
14: 34,118,251 (GRCm39) |
|
probably null |
Het |
| Mrtfb |
T |
A |
16: 13,230,182 (GRCm39) |
S956T |
possibly damaging |
Het |
| Msrb3 |
T |
A |
10: 120,620,041 (GRCm39) |
S93C |
possibly damaging |
Het |
| Ncl |
AAAGCCTCCC |
AAAGCCTCCCAAGCCTCCC |
1: 86,278,538 (GRCm39) |
|
probably benign |
Het |
| Or8k41 |
A |
G |
2: 86,313,984 (GRCm39) |
I34T |
probably damaging |
Het |
| Osbpl10 |
C |
T |
9: 115,036,621 (GRCm39) |
Q381* |
probably null |
Het |
| Pelp1 |
A |
G |
11: 70,287,416 (GRCm39) |
L464P |
probably damaging |
Het |
| Pigs |
A |
G |
11: 78,226,431 (GRCm39) |
D216G |
probably benign |
Het |
| Ptprk |
T |
C |
10: 28,372,943 (GRCm39) |
|
probably null |
Het |
| Pyroxd1 |
T |
C |
6: 142,294,370 (GRCm39) |
|
probably null |
Het |
| Ros1 |
T |
A |
10: 51,922,221 (GRCm39) |
D2284V |
probably damaging |
Het |
| Rptor |
T |
C |
11: 119,634,717 (GRCm39) |
S178P |
possibly damaging |
Het |
| Slc8a1 |
C |
T |
17: 81,955,836 (GRCm39) |
D401N |
probably damaging |
Het |
| Tas2r143 |
T |
C |
6: 42,377,694 (GRCm39) |
Y175H |
probably benign |
Het |
| Tdrd9 |
T |
C |
12: 111,989,693 (GRCm39) |
S502P |
probably damaging |
Het |
| Tmem38a |
A |
G |
8: 73,333,947 (GRCm39) |
H142R |
probably damaging |
Het |
| Tmem44 |
A |
G |
16: 30,333,651 (GRCm39) |
|
probably benign |
Het |
| Ugt2b38 |
T |
G |
5: 87,560,232 (GRCm39) |
N361H |
probably damaging |
Het |
| Umod |
A |
G |
7: 119,063,964 (GRCm39) |
V614A |
possibly damaging |
Het |
| Vmn2r5 |
A |
T |
3: 64,398,726 (GRCm39) |
L751* |
probably null |
Het |
| Wdr37 |
A |
T |
13: 8,855,876 (GRCm39) |
I489N |
probably damaging |
Het |
| Xdh |
T |
C |
17: 74,246,831 (GRCm39) |
T78A |
probably benign |
Het |
| Zfp866 |
A |
T |
8: 70,220,272 (GRCm39) |
|
probably benign |
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 |
|
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 |
|
R5711:D7Ertd443e
|
UTSW |
7 |
133,951,110 (GRCm39) |
missense |
probably benign |
0.43 |
|
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'- GCACAGTTCGACAACTTTGCTCACC -3'
(R):5'- TAACTGTTGCTGAGGCCAGCTACC -3'
Sequencing Primer
(F):5'- CTCAGCCAGATCTTCAGATCAG -3'
(R):5'- GGAACCCACAGTATTTGTCTCG -3'
|
| Posted On |
2013-11-18 |
Incidental Mutation