Incidental Mutation 'R0907:Afmid'
| ID |
83366 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Afmid
|
| Ensembl Gene |
ENSMUSG00000017718 |
| Gene Name |
arylformamidase |
| Synonyms |
formylkynureninase, formylase, 9030621K19Rik, Kf, kynurenine formamidase |
| MMRRC Submission |
039065-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R0907 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
117716750-117730734 bp(+) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
T to A
at 117726416 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000119310
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000073388]
[ENSMUST00000132298]
[ENSMUST00000149668]
|
| AlphaFold |
Q8K4H1 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000073388
|
| SMART Domains |
Protein: ENSMUSP00000073102
Gene: ENSMUSG00000017718
| 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 benign
Transcript: ENSMUST00000149668
|
| SMART Domains |
Protein: ENSMUSP00000119310
Gene: ENSMUSG00000017718
| 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 |
- 1x: 99.4%
- 3x: 98.9%
- 10x: 97.4%
- 20x: 95.3%
|
| Validation Efficiency |
100% (34/34) |
| 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: 32 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abl2 |
G |
A |
1: 156,457,429 (GRCm39) |
V225M |
probably damaging |
Het |
| Ccdc191 |
G |
A |
16: 43,735,901 (GRCm39) |
V216I |
probably benign |
Het |
| Cep112 |
C |
A |
11: 108,461,258 (GRCm39) |
|
probably benign |
Het |
| Dcbld1 |
T |
C |
10: 52,137,910 (GRCm39) |
V58A |
possibly damaging |
Het |
| Dop1b |
A |
T |
16: 93,598,481 (GRCm39) |
H1882L |
probably damaging |
Het |
| Fat1 |
A |
G |
8: 45,479,635 (GRCm39) |
I2894V |
probably benign |
Het |
| Focad |
T |
C |
4: 88,196,498 (GRCm39) |
|
probably null |
Het |
| Gm45713 |
G |
A |
7: 44,781,788 (GRCm39) |
T203M |
possibly damaging |
Het |
| Gstm1 |
T |
C |
3: 107,924,696 (GRCm39) |
Y28C |
probably damaging |
Het |
| Gucy1a1 |
T |
C |
3: 82,018,498 (GRCm39) |
D113G |
probably benign |
Het |
| Hat1 |
G |
T |
2: 71,250,961 (GRCm39) |
E170* |
probably null |
Het |
| Herc1 |
C |
A |
9: 66,340,710 (GRCm39) |
F1686L |
possibly damaging |
Het |
| Iffo1 |
A |
G |
6: 125,130,124 (GRCm39) |
E270G |
probably null |
Het |
| Lgr6 |
C |
T |
1: 134,921,748 (GRCm39) |
A199T |
probably damaging |
Het |
| Lrp3 |
A |
T |
7: 34,902,718 (GRCm39) |
Y522N |
probably damaging |
Het |
| Lrp6 |
A |
T |
6: 134,484,488 (GRCm39) |
D378E |
probably damaging |
Het |
| Mmrn1 |
A |
G |
6: 60,950,103 (GRCm39) |
N351S |
probably benign |
Het |
| Or1e16 |
A |
T |
11: 73,285,945 (GRCm39) |
L301Q |
probably damaging |
Het |
| Or9q1 |
T |
C |
19: 13,805,220 (GRCm39) |
D180G |
probably damaging |
Het |
| Pcnx3 |
T |
C |
19: 5,721,553 (GRCm39) |
K1082E |
possibly damaging |
Het |
| Pikfyve |
T |
C |
1: 65,241,989 (GRCm39) |
V243A |
possibly damaging |
Het |
| Qdpr |
G |
C |
5: 45,596,728 (GRCm39) |
I145M |
probably benign |
Het |
| Rasgrp3 |
G |
T |
17: 75,816,822 (GRCm39) |
|
probably null |
Het |
| Rd3l |
G |
T |
12: 111,946,574 (GRCm39) |
Y1* |
probably null |
Het |
| Sf3b3 |
A |
G |
8: 111,538,142 (GRCm39) |
|
probably benign |
Het |
| Smn1 |
C |
T |
13: 100,264,404 (GRCm39) |
T45I |
probably damaging |
Het |
| Sprr3 |
A |
T |
3: 92,364,316 (GRCm39) |
I176N |
probably benign |
Het |
| Sv2c |
T |
C |
13: 96,224,763 (GRCm39) |
D182G |
probably damaging |
Het |
| Tnni3k |
A |
T |
3: 154,647,316 (GRCm39) |
V397D |
probably damaging |
Het |
| Trpt1 |
G |
T |
19: 6,976,308 (GRCm39) |
G235V |
possibly damaging |
Het |
| Ttll10 |
A |
T |
4: 156,120,621 (GRCm39) |
C367* |
probably null |
Het |
| Unc5c |
A |
G |
3: 141,494,794 (GRCm39) |
Q369R |
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 |
|
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 |
|
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- AGAGGAGACCCTTCTTTGCCTCTG -3'
(R):5'- AGGAGACCACATGATGCTGAACCC -3'
Sequencing Primer
(F):5'- TCTGCCCACAGTCCTGG -3'
(R):5'- GTTAGCAGTACCTCGTAGAACTC -3'
|
| Posted On |
2013-11-08 |
Incidental Mutation