Incidental Mutation 'IGL00157:Yrdc'
| ID |
1703 |
| 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 # |
IGL00157
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
4 |
| Chromosomal Location |
124744552-124749035 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 124747754 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 86
(S86P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000114150
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000030723]
[ENSMUST00000064444]
[ENSMUST00000102628]
[ENSMUST00000106190]
[ENSMUST00000106193]
[ENSMUST00000137769]
[ENSMUST00000144851]
[ENSMUST00000185036]
[ENSMUST00000163946]
|
| 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: S239P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000099688
Gene: ENSMUSG00000028889
AA Change: S239P
| 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: S86P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000114150
Gene: ENSMUSG00000028889
AA Change: S86P
| 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: 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 |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000163946
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 32 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acp4 |
A |
G |
7: 43,902,875 (GRCm39) |
V331A |
possibly damaging |
Het |
| Casr |
C |
A |
16: 36,316,172 (GRCm39) |
V633F |
probably damaging |
Het |
| Cblb |
T |
G |
16: 52,003,670 (GRCm39) |
V716G |
probably benign |
Het |
| Cbln2 |
C |
T |
18: 86,734,509 (GRCm39) |
Q156* |
probably null |
Het |
| Cnn1 |
G |
T |
9: 22,010,693 (GRCm39) |
L14F |
possibly damaging |
Het |
| D830013O20Rik |
T |
C |
12: 73,411,021 (GRCm39) |
|
noncoding transcript |
Het |
| Drd1 |
A |
G |
13: 54,207,897 (GRCm39) |
S99P |
probably damaging |
Het |
| Fat1 |
T |
C |
8: 45,404,707 (GRCm39) |
V486A |
possibly damaging |
Het |
| Galnt7 |
T |
C |
8: 57,993,073 (GRCm39) |
N416S |
probably damaging |
Het |
| Gm10735 |
T |
C |
13: 113,178,018 (GRCm39) |
|
probably benign |
Het |
| H2-T5 |
A |
T |
17: 36,476,246 (GRCm39) |
|
probably null |
Het |
| Jag2 |
T |
C |
12: 112,876,338 (GRCm39) |
T790A |
probably benign |
Het |
| Klhdc1 |
T |
A |
12: 69,288,782 (GRCm39) |
Y31N |
possibly damaging |
Het |
| Lama1 |
A |
T |
17: 68,122,923 (GRCm39) |
M2769L |
probably benign |
Het |
| Mms19 |
A |
G |
19: 41,933,896 (GRCm39) |
|
probably null |
Het |
| Msrb2 |
C |
A |
2: 19,399,152 (GRCm39) |
P172T |
probably damaging |
Het |
| Or8g35 |
A |
G |
9: 39,381,539 (GRCm39) |
V161A |
probably benign |
Het |
| Or8k41 |
T |
C |
2: 86,313,562 (GRCm39) |
S175G |
probably benign |
Het |
| Pcdhb9 |
T |
A |
18: 37,536,332 (GRCm39) |
D775E |
possibly damaging |
Het |
| Pkhd1 |
T |
C |
1: 20,637,098 (GRCm39) |
|
probably null |
Het |
| Preb |
A |
T |
5: 31,113,308 (GRCm39) |
D375E |
probably damaging |
Het |
| Prkdc |
T |
C |
16: 15,515,090 (GRCm39) |
I1010T |
probably damaging |
Het |
| Rbp2 |
A |
G |
9: 98,380,950 (GRCm39) |
|
probably null |
Het |
| Septin9 |
A |
G |
11: 117,243,010 (GRCm39) |
T66A |
probably damaging |
Het |
| Serpinb9b |
A |
T |
13: 33,219,608 (GRCm39) |
E178D |
probably benign |
Het |
| Shld2 |
A |
G |
14: 33,990,582 (GRCm39) |
V108A |
probably benign |
Het |
| Tg |
A |
G |
15: 66,719,015 (GRCm39) |
Y258C |
probably damaging |
Het |
| Tmprss7 |
T |
C |
16: 45,483,731 (GRCm39) |
R548G |
probably benign |
Het |
| Uba7 |
G |
A |
9: 107,856,310 (GRCm39) |
A536T |
probably benign |
Het |
| Vmn2r114 |
G |
A |
17: 23,510,639 (GRCm39) |
P614S |
probably damaging |
Het |
| Xpc |
A |
G |
6: 91,469,246 (GRCm39) |
|
probably benign |
Het |
| Zbed6 |
G |
T |
1: 133,585,114 (GRCm39) |
A741D |
probably damaging |
Het |
|
| Other mutations in Yrdc |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01142:Yrdc
|
APN |
4 |
124,747,787 (GRCm39) |
missense |
probably damaging |
0.98 |
|
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 |
2011-07-12 |
Incidental Mutation