Incidental Mutation 'IGL01142:Yrdc'
ID |
50974 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Yrdc
|
Ensembl Gene |
ENSMUSG00000028889 |
Gene Name |
yrdC domain containing (E.coli) |
Synonyms |
IRIP |
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.962)
|
Stock # |
IGL01142
|
Quality Score |
|
Status
|
|
Chromosome |
4 |
Chromosomal Location |
124744552-124749035 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 124747787 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Phenylalanine to Leucine
at position 97
(F97L)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000114150
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000030723]
[ENSMUST00000064444]
[ENSMUST00000102628]
[ENSMUST00000106190]
[ENSMUST00000106193]
[ENSMUST00000137769]
[ENSMUST00000144851]
[ENSMUST00000163946]
[ENSMUST00000185036]
|
AlphaFold |
Q3U5F4 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000030723
|
SMART Domains |
Protein: ENSMUSP00000030723 Gene: ENSMUSG00000028890
Domain | Start | End | E-Value | Type |
ZnF_C2H2
|
139 |
163 |
1.22e-4 |
SMART |
ZnF_C2H2
|
169 |
193 |
6.42e-4 |
SMART |
ZnF_C2H2
|
199 |
223 |
2.4e-3 |
SMART |
ZnF_C2H2
|
228 |
252 |
2.57e-3 |
SMART |
ZnF_C2H2
|
258 |
282 |
2.57e-3 |
SMART |
ZnF_C2H2
|
288 |
312 |
7.37e-4 |
SMART |
low complexity region
|
429 |
456 |
N/A |
INTRINSIC |
low complexity region
|
500 |
526 |
N/A |
INTRINSIC |
low complexity region
|
545 |
558 |
N/A |
INTRINSIC |
low complexity region
|
628 |
638 |
N/A |
INTRINSIC |
low complexity region
|
656 |
669 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000064444
|
SMART Domains |
Protein: ENSMUSP00000066000 Gene: ENSMUSG00000042763
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
25 |
N/A |
INTRINSIC |
low complexity region
|
31 |
46 |
N/A |
INTRINSIC |
low complexity region
|
55 |
79 |
N/A |
INTRINSIC |
Pfam:Glyco_hydro_99
|
95 |
445 |
8.7e-160 |
PFAM |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000102628
AA Change: F250L
PolyPhen 2
Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000099688 Gene: ENSMUSG00000028889 AA Change: F250L
Domain | Start | End | E-Value | Type |
low complexity region
|
32 |
63 |
N/A |
INTRINSIC |
Pfam:Sua5_yciO_yrdC
|
76 |
256 |
1.3e-46 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000106190
|
SMART Domains |
Protein: ENSMUSP00000101796 Gene: ENSMUSG00000078570
Domain | Start | End | E-Value | Type |
Pfam:DUF4726
|
10 |
110 |
2e-66 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000106193
|
SMART Domains |
Protein: ENSMUSP00000101799 Gene: ENSMUSG00000028890
Domain | Start | End | E-Value | Type |
ZnF_C2H2
|
139 |
163 |
1.22e-4 |
SMART |
ZnF_C2H2
|
169 |
193 |
6.42e-4 |
SMART |
ZnF_C2H2
|
199 |
223 |
2.4e-3 |
SMART |
ZnF_C2H2
|
228 |
252 |
2.57e-3 |
SMART |
ZnF_C2H2
|
258 |
282 |
2.57e-3 |
SMART |
ZnF_C2H2
|
288 |
312 |
7.37e-4 |
SMART |
low complexity region
|
429 |
456 |
N/A |
INTRINSIC |
low complexity region
|
500 |
526 |
N/A |
INTRINSIC |
low complexity region
|
545 |
558 |
N/A |
INTRINSIC |
low complexity region
|
628 |
638 |
N/A |
INTRINSIC |
low complexity region
|
656 |
669 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000125776
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000137769
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000144851
AA Change: F97L
PolyPhen 2
Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000114150 Gene: ENSMUSG00000028889 AA Change: F97L
Domain | Start | End | E-Value | Type |
Pfam:Sua5_yciO_yrdC
|
1 |
103 |
2.5e-20 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000173434
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000184704
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000163946
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000185036
|
SMART Domains |
Protein: ENSMUSP00000139121 Gene: ENSMUSG00000078570
Domain | Start | End | E-Value | Type |
low complexity region
|
66 |
89 |
N/A |
INTRINSIC |
low complexity region
|
123 |
137 |
N/A |
INTRINSIC |
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 22 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Armc3 |
C |
T |
2: 19,302,709 (GRCm39) |
|
probably benign |
Het |
Cacnb3 |
T |
A |
15: 98,539,883 (GRCm39) |
L269* |
probably null |
Het |
Calu |
T |
C |
6: 29,366,207 (GRCm39) |
|
probably null |
Het |
Cep97 |
A |
G |
16: 55,742,561 (GRCm39) |
S129P |
probably damaging |
Het |
Cpt1b |
T |
C |
15: 89,303,196 (GRCm39) |
M620V |
probably benign |
Het |
Dnah7b |
T |
C |
1: 46,234,538 (GRCm39) |
|
probably null |
Het |
Evi5 |
T |
C |
5: 107,963,477 (GRCm39) |
K410R |
probably benign |
Het |
Gad2 |
T |
C |
2: 22,571,297 (GRCm39) |
|
probably benign |
Het |
Helb |
A |
T |
10: 119,947,049 (GRCm39) |
V88D |
probably damaging |
Het |
Hexim2 |
A |
G |
11: 103,024,960 (GRCm39) |
E19G |
probably benign |
Het |
Klhl25 |
T |
C |
7: 75,516,344 (GRCm39) |
Y112H |
probably damaging |
Het |
Lin52 |
T |
C |
12: 84,503,009 (GRCm39) |
|
probably benign |
Het |
Ms4a4c |
A |
G |
19: 11,403,614 (GRCm39) |
T157A |
probably benign |
Het |
Or12e8 |
T |
C |
2: 87,187,889 (GRCm39) |
F34L |
possibly damaging |
Het |
Or7g17 |
A |
G |
9: 18,768,830 (GRCm39) |
N303S |
probably damaging |
Het |
Plxnb1 |
A |
G |
9: 108,931,765 (GRCm39) |
T472A |
probably benign |
Het |
Sez6 |
T |
G |
11: 77,864,642 (GRCm39) |
V534G |
probably damaging |
Het |
Sim1 |
C |
A |
10: 50,786,767 (GRCm39) |
T333K |
probably damaging |
Het |
Tedc1 |
C |
T |
12: 113,126,808 (GRCm39) |
R357* |
probably null |
Het |
Tmem115 |
A |
G |
9: 107,411,844 (GRCm39) |
N56S |
possibly damaging |
Het |
Ubac1 |
T |
C |
2: 25,896,580 (GRCm39) |
I150V |
probably damaging |
Het |
Vps13a |
T |
C |
19: 16,664,479 (GRCm39) |
K1455E |
possibly damaging |
Het |
|
Other mutations in Yrdc |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00157:Yrdc
|
APN |
4 |
124,747,754 (GRCm39) |
missense |
probably damaging |
1.00 |
R0525:Yrdc
|
UTSW |
4 |
124,745,559 (GRCm39) |
missense |
probably damaging |
1.00 |
R1162:Yrdc
|
UTSW |
4 |
124,748,254 (GRCm39) |
unclassified |
probably benign |
|
R1220:Yrdc
|
UTSW |
4 |
124,748,329 (GRCm39) |
missense |
possibly damaging |
0.62 |
R1952:Yrdc
|
UTSW |
4 |
124,745,739 (GRCm39) |
missense |
probably benign |
0.00 |
R3829:Yrdc
|
UTSW |
4 |
124,745,554 (GRCm39) |
start codon destroyed |
probably null |
0.92 |
R7121:Yrdc
|
UTSW |
4 |
124,744,748 (GRCm39) |
missense |
probably benign |
0.06 |
R7272:Yrdc
|
UTSW |
4 |
124,744,820 (GRCm39) |
missense |
probably benign |
0.23 |
R8169:Yrdc
|
UTSW |
4 |
124,744,880 (GRCm39) |
missense |
probably benign |
|
R8837:Yrdc
|
UTSW |
4 |
124,747,677 (GRCm39) |
missense |
probably benign |
0.01 |
R9159:Yrdc
|
UTSW |
4 |
124,747,811 (GRCm39) |
critical splice donor site |
probably null |
|
Z1176:Yrdc
|
UTSW |
4 |
124,745,290 (GRCm39) |
unclassified |
probably benign |
|
|
Posted On |
2013-06-21 |