Incidental Mutation 'R4064:Afmid'
| ID |
316027 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Afmid
|
| Ensembl Gene |
ENSMUSG00000017718 |
| Gene Name |
arylformamidase |
| Synonyms |
formylkynureninase, formylase, 9030621K19Rik, Kf, kynurenine formamidase |
| MMRRC Submission |
041620-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R4064 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
117716750-117730734 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 117727354 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 293
(T293A)
|
| 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
AA Change: T293A
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000119310
Gene: ENSMUSG00000017718
AA Change: T293A
| 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
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.4%
- 20x: 95.6%
|
| Validation Efficiency |
100% (44/44) |
| 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: 37 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc2 |
T |
G |
19: 43,793,432 (GRCm39) |
Y361* |
probably null |
Het |
| Ago4 |
A |
T |
4: 126,409,655 (GRCm39) |
|
probably benign |
Het |
| Alkbh2 |
C |
T |
5: 114,262,287 (GRCm39) |
E148K |
probably damaging |
Het |
| Axl |
C |
A |
7: 25,463,445 (GRCm39) |
V602L |
probably benign |
Het |
| Cdc5l |
C |
T |
17: 45,721,816 (GRCm39) |
A485T |
probably benign |
Het |
| Duoxa2 |
G |
T |
2: 122,131,058 (GRCm39) |
S73I |
probably damaging |
Het |
| Espl1 |
A |
G |
15: 102,221,424 (GRCm39) |
I944V |
probably damaging |
Het |
| Etfdh |
T |
C |
3: 79,513,098 (GRCm39) |
E435G |
possibly damaging |
Het |
| Fbxo15 |
C |
T |
18: 84,977,243 (GRCm39) |
R52C |
probably damaging |
Het |
| Fosb |
G |
T |
7: 19,039,117 (GRCm39) |
C186* |
probably null |
Het |
| Gtpbp2 |
G |
A |
17: 46,478,253 (GRCm39) |
R467H |
probably damaging |
Het |
| Hnrnpll |
T |
C |
17: 80,340,201 (GRCm39) |
H526R |
probably benign |
Het |
| Mphosph9 |
A |
T |
5: 124,428,980 (GRCm39) |
F683I |
probably damaging |
Het |
| Mrps24 |
G |
A |
11: 5,654,676 (GRCm39) |
R93* |
probably null |
Het |
| Nhlh2 |
A |
G |
3: 101,920,052 (GRCm39) |
D28G |
probably benign |
Het |
| Or1e16 |
A |
T |
11: 73,286,348 (GRCm39) |
S167T |
probably benign |
Het |
| Or5w17 |
A |
G |
2: 87,584,133 (GRCm39) |
F68S |
probably damaging |
Het |
| Otogl |
A |
T |
10: 107,626,510 (GRCm39) |
D1451E |
probably benign |
Het |
| Otop2 |
G |
A |
11: 115,220,201 (GRCm39) |
G347D |
probably damaging |
Het |
| Parp4 |
A |
G |
14: 56,861,597 (GRCm39) |
S977G |
probably benign |
Het |
| Psmb7 |
T |
C |
2: 38,530,188 (GRCm39) |
T98A |
probably damaging |
Het |
| Pus10 |
A |
G |
11: 23,678,983 (GRCm39) |
K485R |
probably damaging |
Het |
| Rab11fip3 |
T |
C |
17: 26,243,368 (GRCm39) |
D588G |
probably damaging |
Het |
| Rgl2 |
T |
A |
17: 34,156,082 (GRCm39) |
D723E |
possibly damaging |
Het |
| Rp1 |
A |
T |
1: 4,415,623 (GRCm39) |
S1830T |
probably benign |
Het |
| Rreb1 |
T |
C |
13: 38,114,293 (GRCm39) |
S551P |
probably benign |
Het |
| Serpinb7 |
A |
T |
1: 107,373,766 (GRCm39) |
E127D |
probably benign |
Het |
| Sh3pxd2b |
G |
T |
11: 32,372,263 (GRCm39) |
A477S |
probably benign |
Het |
| Slc26a9 |
T |
C |
1: 131,690,925 (GRCm39) |
Y568H |
probably benign |
Het |
| Tars3 |
G |
A |
7: 65,302,018 (GRCm39) |
A181T |
possibly damaging |
Het |
| Tbc1d2b |
T |
A |
9: 90,100,975 (GRCm39) |
K672* |
probably null |
Het |
| Tmem59l |
T |
C |
8: 70,938,369 (GRCm39) |
T168A |
probably damaging |
Het |
| Tshz2 |
A |
G |
2: 169,804,245 (GRCm39) |
|
probably benign |
Het |
| Vmn1r9 |
T |
C |
6: 57,048,306 (GRCm39) |
F127S |
probably damaging |
Het |
| Zfp282 |
G |
A |
6: 47,857,028 (GRCm39) |
R87H |
probably damaging |
Het |
| Zfp292 |
A |
G |
4: 34,810,863 (GRCm39) |
V727A |
probably damaging |
Het |
| Zscan22 |
C |
T |
7: 12,640,941 (GRCm39) |
T395I |
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 |
|
|
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 |
|
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'- ACTGAGAGCCACCACTTCAG -3'
(R):5'- AACTGTTTATGGTACTCTCTGTGTC -3'
Sequencing Primer
(F):5'- AGCCGCACTCTCATGCC -3'
(R):5'- TCTGTGTCAGAGCCGTAACAAGTC -3'
|
| Posted On |
2015-05-15 |
Incidental Mutation