Incidental Mutation 'IGL02159:Afmid'
ID |
282376 |
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 # |
IGL02159
|
Quality Score |
|
Status
|
|
Chromosome |
11 |
Chromosomal Location |
117716750-117730734 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 117727252 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tryptophan to Arginine
at position 267
(W267R)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000073102
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000073388]
[ENSMUST00000132298]
[ENSMUST00000149668]
|
AlphaFold |
Q8K4H1 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000073388
AA Change: W267R
PolyPhen 2
Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000073102 Gene: ENSMUSG00000017718 AA Change: W267R
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: W259R
PolyPhen 2
Score 0.963 (Sensitivity: 0.78; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000119310 Gene: ENSMUSG00000017718 AA Change: W259R
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: 43 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700017N19Rik |
T |
C |
10: 100,446,527 (GRCm39) |
L257S |
probably damaging |
Het |
Abca13 |
A |
G |
11: 9,264,545 (GRCm39) |
S2976G |
probably benign |
Het |
Ahi1 |
A |
G |
10: 20,934,076 (GRCm39) |
K969R |
probably benign |
Het |
Aldh1l1 |
A |
G |
6: 90,571,638 (GRCm39) |
|
probably benign |
Het |
Ank3 |
A |
G |
10: 69,644,722 (GRCm39) |
H62R |
probably damaging |
Het |
Arid2 |
T |
C |
15: 96,256,793 (GRCm39) |
|
probably benign |
Het |
Caps2 |
G |
A |
10: 112,039,928 (GRCm39) |
V457M |
probably benign |
Het |
Capza1 |
T |
C |
3: 104,771,687 (GRCm39) |
D3G |
possibly damaging |
Het |
Cav1 |
T |
A |
6: 17,307,971 (GRCm39) |
V41E |
possibly damaging |
Het |
Celf2 |
G |
T |
2: 6,608,988 (GRCm39) |
C264* |
probably null |
Het |
Clec4a2 |
C |
T |
6: 123,116,285 (GRCm39) |
S150L |
probably benign |
Het |
D7Ertd443e |
A |
T |
7: 133,951,129 (GRCm39) |
D181E |
possibly damaging |
Het |
Epyc |
A |
G |
10: 97,506,493 (GRCm39) |
E100G |
probably benign |
Het |
Hdac11 |
A |
G |
6: 91,150,084 (GRCm39) |
I294M |
probably damaging |
Het |
Hrob |
G |
A |
11: 102,150,991 (GRCm39) |
|
probably null |
Het |
Hsdl1 |
A |
G |
8: 120,293,153 (GRCm39) |
V73A |
probably benign |
Het |
Kmt2c |
A |
T |
5: 25,516,341 (GRCm39) |
S2501T |
probably benign |
Het |
Lrrc41 |
T |
A |
4: 115,945,683 (GRCm39) |
F133I |
probably benign |
Het |
Map3k19 |
C |
A |
1: 127,750,907 (GRCm39) |
G815C |
probably benign |
Het |
Muc13 |
C |
A |
16: 33,619,849 (GRCm39) |
T199K |
unknown |
Het |
Nif3l1 |
G |
T |
1: 58,487,105 (GRCm39) |
|
probably null |
Het |
Nlrp12 |
A |
T |
7: 3,298,175 (GRCm39) |
|
probably benign |
Het |
Nup205 |
T |
C |
6: 35,166,113 (GRCm39) |
S244P |
probably damaging |
Het |
Or7a37 |
A |
T |
10: 78,805,735 (GRCm39) |
N84I |
probably damaging |
Het |
Parl |
G |
A |
16: 20,098,838 (GRCm39) |
|
probably benign |
Het |
Pax8 |
A |
G |
2: 24,330,800 (GRCm39) |
I211T |
possibly damaging |
Het |
Pglyrp4 |
A |
G |
3: 90,638,160 (GRCm39) |
E158G |
possibly damaging |
Het |
Plekhm1 |
A |
G |
11: 103,271,057 (GRCm39) |
L478P |
probably benign |
Het |
Prss3b |
T |
C |
6: 41,009,891 (GRCm39) |
T148A |
probably benign |
Het |
Serpina1a |
C |
T |
12: 103,820,965 (GRCm39) |
G338R |
probably damaging |
Het |
Serpina5 |
T |
C |
12: 104,071,557 (GRCm39) |
L388P |
possibly damaging |
Het |
Sorbs1 |
A |
G |
19: 40,316,040 (GRCm39) |
V367A |
probably damaging |
Het |
Srgap2 |
A |
G |
1: 131,247,404 (GRCm39) |
|
probably benign |
Het |
Surf1 |
A |
G |
2: 26,805,663 (GRCm39) |
L26P |
probably damaging |
Het |
Taf4 |
A |
G |
2: 179,580,263 (GRCm39) |
S486P |
probably benign |
Het |
Tdrd6 |
A |
T |
17: 43,939,281 (GRCm39) |
V589E |
probably damaging |
Het |
Tuba3b |
T |
G |
6: 145,565,392 (GRCm39) |
S287A |
probably benign |
Het |
Txnrd3 |
G |
A |
6: 89,646,306 (GRCm39) |
R295H |
probably damaging |
Het |
Ubr5 |
G |
T |
15: 37,991,623 (GRCm39) |
|
probably benign |
Het |
Unc45b |
C |
T |
11: 82,831,007 (GRCm39) |
|
probably benign |
Het |
Usp32 |
A |
G |
11: 84,896,628 (GRCm39) |
|
probably null |
Het |
Utp23 |
G |
A |
15: 51,745,761 (GRCm39) |
R87K |
probably benign |
Het |
Vps8 |
T |
C |
16: 21,285,234 (GRCm39) |
I405T |
possibly damaging |
Het |
|
Other mutations in Afmid |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL02205:Afmid
|
APN |
11 |
117,725,982 (GRCm39) |
missense |
probably damaging |
1.00 |
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 |