Incidental Mutation 'R4516:D7Ertd443e'
ID |
332917 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
D7Ertd443e
|
Ensembl Gene |
ENSMUSG00000030994 |
Gene Name |
DNA segment, Chr 7, ERATO Doi 443, expressed |
Synonyms |
4933400E14Rik |
MMRRC Submission |
041760-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R4516 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
7 |
Chromosomal Location |
133867508-134102889 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to G
at 133895057 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamine to Histidine
at position 591
(Q591H)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000134479
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000094002]
[ENSMUST00000106129]
[ENSMUST00000172947]
[ENSMUST00000174700]
|
AlphaFold |
D2J0Y4 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000094002
AA Change: Q544H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000091539 Gene: ENSMUSG00000030994 AA Change: Q544H
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: Q185H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000101735 Gene: ENSMUSG00000030994 AA Change: Q185H
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: Q591H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000134479 Gene: ENSMUSG00000030994 AA Change: Q591H
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: ENSMUST00000174700
|
SMART Domains |
Protein: ENSMUSP00000134411 Gene: ENSMUSG00000030994
Domain | Start | End | E-Value | Type |
Pfam:ALMS_motif
|
25 |
98 |
2.3e-12 |
PFAM |
|
Meta Mutation Damage Score |
0.2856 |
Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.5%
- 10x: 96.6%
- 20x: 92.9%
|
Validation Efficiency |
86% (51/59) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 47 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Bean1 |
T |
C |
8: 104,941,786 (GRCm39) |
S211P |
probably damaging |
Het |
Bltp1 |
T |
C |
3: 36,949,460 (GRCm39) |
S369P |
possibly damaging |
Het |
Camta1 |
A |
G |
4: 151,229,177 (GRCm39) |
S552P |
possibly damaging |
Het |
Cdh11 |
T |
C |
8: 103,400,594 (GRCm39) |
T125A |
possibly damaging |
Het |
Cdk5rap2 |
A |
T |
4: 70,194,952 (GRCm39) |
|
probably null |
Het |
Cenpc1 |
A |
G |
5: 86,195,446 (GRCm39) |
S108P |
possibly damaging |
Het |
Cfap20dc |
A |
T |
14: 8,536,609 (GRCm38) |
D199E |
probably damaging |
Het |
Cfap44 |
T |
A |
16: 44,294,227 (GRCm39) |
Y224* |
probably null |
Het |
Cfap46 |
G |
A |
7: 139,239,998 (GRCm39) |
|
probably benign |
Het |
Cntrl |
G |
A |
2: 35,017,993 (GRCm39) |
V468I |
probably benign |
Het |
Col6a6 |
C |
T |
9: 105,576,148 (GRCm39) |
V2071I |
possibly damaging |
Het |
Coq7 |
A |
T |
7: 118,109,130 (GRCm39) |
L306Q |
unknown |
Het |
Dchs1 |
C |
T |
7: 105,404,059 (GRCm39) |
V2828M |
probably damaging |
Het |
Dzank1 |
T |
A |
2: 144,352,042 (GRCm39) |
|
probably benign |
Het |
Elmo1 |
C |
T |
13: 20,467,084 (GRCm39) |
T235I |
probably benign |
Het |
Elp3 |
A |
T |
14: 65,785,326 (GRCm39) |
F492I |
possibly damaging |
Het |
Espl1 |
A |
G |
15: 102,231,671 (GRCm39) |
S90G |
probably benign |
Het |
Fbxl20 |
T |
C |
11: 97,986,061 (GRCm39) |
|
probably benign |
Het |
Gm10722 |
T |
C |
9: 3,000,937 (GRCm39) |
C6R |
probably benign |
Het |
Got1 |
T |
C |
19: 43,493,280 (GRCm39) |
Y243C |
probably damaging |
Het |
Hipk1 |
G |
T |
3: 103,657,688 (GRCm39) |
H799N |
probably damaging |
Het |
Kif21a |
A |
T |
15: 90,855,345 (GRCm39) |
M673K |
probably benign |
Het |
Lama3 |
T |
A |
18: 12,628,415 (GRCm39) |
D1502E |
probably damaging |
Het |
Limk1 |
A |
G |
5: 134,705,640 (GRCm39) |
|
probably benign |
Het |
Myo5b |
A |
G |
18: 74,758,745 (GRCm39) |
Y242C |
probably damaging |
Het |
Naa12 |
G |
A |
18: 80,254,791 (GRCm39) |
M28I |
probably benign |
Het |
Ncbp1 |
T |
C |
4: 46,157,824 (GRCm39) |
V354A |
probably damaging |
Het |
Ncoa2 |
T |
C |
1: 13,217,130 (GRCm39) |
D1380G |
probably damaging |
Het |
Ntng1 |
A |
G |
3: 109,842,329 (GRCm39) |
I148T |
probably damaging |
Het |
Oas1d |
A |
T |
5: 121,057,233 (GRCm39) |
T280S |
probably damaging |
Het |
Or1e29 |
C |
T |
11: 73,667,866 (GRCm39) |
G96S |
probably benign |
Het |
Or4c15b |
T |
A |
2: 89,113,187 (GRCm39) |
M118L |
probably benign |
Het |
Pax7 |
T |
G |
4: 139,508,104 (GRCm39) |
D307A |
probably benign |
Het |
Pdxdc1 |
G |
A |
16: 13,656,210 (GRCm39) |
Q621* |
probably null |
Het |
Rab29 |
A |
T |
1: 131,795,469 (GRCm39) |
Y27F |
possibly damaging |
Het |
Rab3gap2 |
G |
A |
1: 184,999,265 (GRCm39) |
V991I |
probably benign |
Het |
Ric1 |
A |
G |
19: 29,548,165 (GRCm39) |
T278A |
probably benign |
Het |
Rufy4 |
T |
C |
1: 74,186,822 (GRCm39) |
C537R |
probably damaging |
Het |
Slc47a1 |
T |
C |
11: 61,235,339 (GRCm39) |
H498R |
probably benign |
Het |
Spmip6 |
T |
C |
4: 41,517,200 (GRCm39) |
|
probably benign |
Het |
Tas2r116 |
T |
C |
6: 132,833,113 (GRCm39) |
L238P |
probably damaging |
Het |
Tigd5 |
A |
T |
15: 75,782,364 (GRCm39) |
R252* |
probably null |
Het |
Tlr6 |
A |
G |
5: 65,112,247 (GRCm39) |
F220S |
possibly damaging |
Het |
Tmem106b |
C |
T |
6: 13,075,098 (GRCm39) |
T95I |
probably damaging |
Het |
Ubqlnl |
C |
T |
7: 103,798,925 (GRCm39) |
V191M |
probably benign |
Het |
Vmn1r174 |
A |
G |
7: 23,453,768 (GRCm39) |
I145V |
probably benign |
Het |
Vps26a |
T |
C |
10: 62,304,124 (GRCm39) |
M116V |
probably 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 |
|
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'- CATCCTTTCAGTGAAGGCTCC -3'
(R):5'- GAGGCAGGGGTTATATTTGCAC -3'
Sequencing Primer
(F):5'- CATGCCTGAGAATGTTTGTCC -3'
(R):5'- AGTATTGTGATCTTGATTGGATCCC -3'
|
Posted On |
2015-08-18 |