Incidental Mutation 'IGL02205:Afmid'
| ID |
284442 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Afmid
|
| Ensembl Gene |
ENSMUSG00000017718 |
| Gene Name |
arylformamidase |
| Synonyms |
formylkynureninase, formylase, 9030621K19Rik, Kf, kynurenine formamidase |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL02205
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
11 |
| Chromosomal Location |
117716750-117730734 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to G
at 117725982 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Arginine
at position 150
(L150R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000119310
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000073388]
[ENSMUST00000132298]
[ENSMUST00000149668]
|
| AlphaFold |
Q8K4H1 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000073388
AA Change: L158R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000073102
Gene: ENSMUSG00000017718
AA Change: L158R
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:COesterase
|
34 |
139 |
1.1e-6 |
PFAM |
|
Pfam:Abhydrolase_5
|
88 |
280 |
4.1e-12 |
PFAM |
|
Pfam:Abhydrolase_3
|
89 |
283 |
7.8e-19 |
PFAM |
|
Pfam:Peptidase_S9
|
106 |
296 |
1e-8 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000131268
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000132298
|
| SMART Domains |
Protein: ENSMUSP00000135368
Gene: ENSMUSG00000093485
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
4 |
13 |
N/A |
INTRINSIC |
|
low complexity region
|
34 |
43 |
N/A |
INTRINSIC |
|
low complexity region
|
90 |
102 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000139945
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000148016
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000149668
AA Change: L150R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000119310
Gene: ENSMUSG00000017718
AA Change: L150R
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Abhydrolase_5
|
80 |
272 |
9.1e-12 |
PFAM |
|
Pfam:Abhydrolase_3
|
81 |
273 |
1.7e-17 |
PFAM |
|
Pfam:Peptidase_S9
|
101 |
287 |
2.7e-7 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000153850
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
PHENOTYPE: Mice homozygous for a knock-out allele exhibit polydipsia, polyuria and hyperglycemia. Mice homozygous for a full exon 2 deletion show impaired glucose tolerance due to reduced insulin secretion associated with reduced islet mass. [provided by MGI curators]
|
| Allele List at MGI |
All alleles(15) : Targeted, knock-out(1) Targeted, other(2) Gene trapped(12) |
| Other mutations in this stock |
Total: 34 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ankrd27 |
T |
G |
7: 35,316,364 (GRCm39) |
D543E |
probably damaging |
Het |
| Anks1b |
T |
G |
10: 89,906,956 (GRCm39) |
L258V |
probably benign |
Het |
| Cacna1i |
T |
C |
15: 80,257,152 (GRCm39) |
F1087S |
probably benign |
Het |
| Chd2 |
A |
T |
7: 73,091,465 (GRCm39) |
I1592K |
probably benign |
Het |
| Cmip |
G |
A |
8: 118,181,714 (GRCm39) |
V674I |
probably damaging |
Het |
| Col4a2 |
C |
T |
8: 11,481,305 (GRCm39) |
Q826* |
probably null |
Het |
| Ctdsp1 |
C |
T |
1: 74,432,993 (GRCm39) |
A92V |
possibly damaging |
Het |
| Dnajc10 |
T |
A |
2: 80,179,702 (GRCm39) |
S745R |
possibly damaging |
Het |
| Dpp4 |
T |
C |
2: 62,182,601 (GRCm39) |
Y560C |
probably damaging |
Het |
| Fbxl6 |
A |
G |
15: 76,421,541 (GRCm39) |
M232T |
probably benign |
Het |
| Gm5414 |
A |
G |
15: 101,534,304 (GRCm39) |
F267L |
probably benign |
Het |
| Heatr5a |
A |
G |
12: 51,924,120 (GRCm39) |
I2031T |
probably damaging |
Het |
| Hmcn2 |
T |
G |
2: 31,290,139 (GRCm39) |
V2324G |
probably damaging |
Het |
| Hnmt |
A |
T |
2: 23,909,157 (GRCm39) |
N85K |
probably damaging |
Het |
| Kcng4 |
G |
T |
8: 120,352,822 (GRCm39) |
R363S |
probably damaging |
Het |
| Kif18a |
T |
C |
2: 109,137,363 (GRCm39) |
|
probably benign |
Het |
| Lrrc8b |
A |
T |
5: 105,629,703 (GRCm39) |
Y683F |
probably benign |
Het |
| Mepce |
G |
T |
5: 137,782,757 (GRCm39) |
T523K |
probably benign |
Het |
| Mroh1 |
T |
C |
15: 76,321,439 (GRCm39) |
V1040A |
possibly damaging |
Het |
| Myof |
A |
G |
19: 37,913,083 (GRCm39) |
Y1470H |
probably damaging |
Het |
| Or5p50 |
A |
G |
7: 107,421,798 (GRCm39) |
Y293H |
probably damaging |
Het |
| Otol1 |
T |
C |
3: 69,925,929 (GRCm39) |
S35P |
probably benign |
Het |
| P4htm |
T |
C |
9: 108,459,161 (GRCm39) |
D257G |
probably benign |
Het |
| Pcdhb15 |
A |
G |
18: 37,607,010 (GRCm39) |
T81A |
probably damaging |
Het |
| Polg2 |
T |
C |
11: 106,669,946 (GRCm39) |
E108G |
probably benign |
Het |
| Rfx7 |
T |
A |
9: 72,514,932 (GRCm39) |
H143Q |
probably damaging |
Het |
| Sf3b2 |
A |
G |
19: 5,333,765 (GRCm39) |
V611A |
probably benign |
Het |
| Slc10a7 |
G |
T |
8: 79,423,932 (GRCm39) |
K203N |
probably benign |
Het |
| Slc12a5 |
T |
A |
2: 164,838,399 (GRCm39) |
V1046D |
probably benign |
Het |
| Tacc2 |
A |
T |
7: 130,228,412 (GRCm39) |
D1718V |
probably damaging |
Het |
| Unc79 |
T |
A |
12: 103,045,260 (GRCm39) |
I812N |
probably damaging |
Het |
| Vps13c |
A |
G |
9: 67,790,736 (GRCm39) |
Y338C |
probably damaging |
Het |
| Wdr17 |
T |
C |
8: 55,149,335 (GRCm39) |
Y31C |
probably damaging |
Het |
| Zfp654 |
A |
T |
16: 64,606,329 (GRCm39) |
N624K |
probably damaging |
Het |
|
| Other mutations in Afmid |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02159:Afmid
|
APN |
11 |
117,727,252 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02657:Afmid
|
APN |
11 |
117,725,648 (GRCm39) |
missense |
possibly damaging |
0.72 |
|
2107:Afmid
|
UTSW |
11 |
117,726,387 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0371:Afmid
|
UTSW |
11 |
117,725,966 (GRCm39) |
splice site |
probably benign |
|
|
R0907:Afmid
|
UTSW |
11 |
117,726,416 (GRCm39) |
splice site |
probably benign |
|
|
R0941:Afmid
|
UTSW |
11 |
117,726,071 (GRCm39) |
splice site |
probably benign |
|
|
R1915:Afmid
|
UTSW |
11 |
117,726,625 (GRCm39) |
missense |
possibly damaging |
0.96 |
|
R1975:Afmid
|
UTSW |
11 |
117,727,300 (GRCm39) |
missense |
probably benign |
0.07 |
|
R2034:Afmid
|
UTSW |
11 |
117,726,061 (GRCm39) |
missense |
probably benign |
0.07 |
|
R4064:Afmid
|
UTSW |
11 |
117,727,354 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5386:Afmid
|
UTSW |
11 |
117,718,968 (GRCm39) |
missense |
probably benign |
|
|
R5815:Afmid
|
UTSW |
11 |
117,726,530 (GRCm39) |
missense |
probably benign |
0.17 |
|
R7075:Afmid
|
UTSW |
11 |
117,726,531 (GRCm39) |
missense |
probably benign |
|
|
R7185:Afmid
|
UTSW |
11 |
117,725,599 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
R8016:Afmid
|
UTSW |
11 |
117,726,370 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8835:Afmid
|
UTSW |
11 |
117,718,914 (GRCm39) |
missense |
probably benign |
0.14 |
|
R9023:Afmid
|
UTSW |
11 |
117,726,349 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9028:Afmid
|
UTSW |
11 |
117,727,489 (GRCm39) |
missense |
probably benign |
0.00 |
|
Z1176:Afmid
|
UTSW |
11 |
117,725,792 (GRCm39) |
missense |
probably benign |
0.33 |
|
| Posted On |
2015-04-16 |
Incidental Mutation