Incidental Mutation 'R0941:Afmid'
| ID |
82590 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Afmid
|
| Ensembl Gene |
ENSMUSG00000017718 |
| Gene Name |
arylformamidase |
| Synonyms |
formylkynureninase, formylase, 9030621K19Rik, Kf, kynurenine formamidase |
| MMRRC Submission |
039080-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R0941 (G1)
|
| Quality Score |
198 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
117716750-117730734 bp(+) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
T to A
at 117726071 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: 98.7%
- 10x: 96.9%
- 20x: 93.9%
|
| Validation Efficiency |
97% (36/37) |
| 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 |
|---|
| Acaa2 |
G |
T |
18: 74,931,414 (GRCm39) |
M203I |
probably benign |
Het |
| Ahnak |
A |
G |
19: 8,987,278 (GRCm39) |
D2854G |
probably damaging |
Het |
| Amotl1 |
A |
C |
9: 14,507,854 (GRCm39) |
I31S |
possibly damaging |
Het |
| Arf3 |
A |
G |
15: 98,638,984 (GRCm39) |
V91A |
probably benign |
Het |
| Atp1b1 |
A |
C |
1: 164,270,829 (GRCm39) |
I50S |
probably benign |
Het |
| Baz1a |
A |
T |
12: 54,945,216 (GRCm39) |
S1380T |
probably benign |
Het |
| C4b |
T |
A |
17: 34,959,029 (GRCm39) |
T467S |
probably benign |
Het |
| Casd1 |
T |
C |
6: 4,635,848 (GRCm39) |
S640P |
probably damaging |
Het |
| Col4a1 |
C |
T |
8: 11,258,296 (GRCm39) |
G1396S |
unknown |
Het |
| Extl1 |
TGCGTTGCACCGATACCGGG |
TG |
4: 134,084,988 (GRCm39) |
|
probably benign |
Het |
| Fhip1a |
G |
T |
3: 85,580,366 (GRCm39) |
P613Q |
probably benign |
Het |
| Gm12695 |
C |
A |
4: 96,616,454 (GRCm39) |
E460* |
probably null |
Het |
| Gnmt |
A |
G |
17: 47,037,271 (GRCm39) |
L171P |
probably damaging |
Het |
| Gpc1 |
G |
A |
1: 92,785,031 (GRCm39) |
R358H |
possibly damaging |
Het |
| Igsf8 |
C |
T |
1: 172,143,963 (GRCm39) |
R39C |
probably damaging |
Het |
| Kdm3b |
T |
A |
18: 34,936,605 (GRCm39) |
C296S |
probably damaging |
Het |
| Lama1 |
C |
T |
17: 68,082,860 (GRCm39) |
P1373S |
probably benign |
Het |
| Lamc1 |
A |
G |
1: 153,208,020 (GRCm39) |
L89P |
possibly damaging |
Het |
| Ltc4s |
T |
G |
11: 50,128,269 (GRCm39) |
|
probably null |
Het |
| Met |
A |
T |
6: 17,491,393 (GRCm39) |
I52F |
probably damaging |
Het |
| Mterf2 |
G |
A |
10: 84,955,934 (GRCm39) |
T230M |
possibly damaging |
Het |
| Mybpc2 |
T |
C |
7: 44,156,311 (GRCm39) |
K834R |
probably benign |
Het |
| Npr1 |
A |
T |
3: 90,368,716 (GRCm39) |
I448N |
probably benign |
Het |
| Or52u1 |
C |
T |
7: 104,237,545 (GRCm39) |
T178I |
probably damaging |
Het |
| Rif1 |
GCCACCA |
GCCA |
2: 52,000,336 (GRCm39) |
|
probably benign |
Het |
| Serpini1 |
A |
T |
3: 75,523,934 (GRCm39) |
I181F |
probably damaging |
Het |
| Shc3 |
T |
C |
13: 51,634,242 (GRCm39) |
M88V |
probably benign |
Het |
| Skint6 |
T |
A |
4: 113,095,555 (GRCm39) |
S35C |
probably damaging |
Het |
| Spta1 |
T |
C |
1: 174,072,771 (GRCm39) |
|
probably benign |
Het |
| Sult2a2 |
C |
T |
7: 13,468,815 (GRCm39) |
R94* |
probably null |
Het |
| Trim9 |
A |
G |
12: 70,295,037 (GRCm39) |
V787A |
probably damaging |
Het |
| Ttn |
A |
G |
2: 76,549,367 (GRCm39) |
V31770A |
probably benign |
Het |
| Unc5d |
T |
C |
8: 29,249,055 (GRCm39) |
N337D |
possibly damaging |
Het |
| Vmn2r7 |
A |
T |
3: 64,624,000 (GRCm39) |
Y107N |
probably benign |
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 |
|
|
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'- GCATTTTGCTCTGTTCAGGCACAC -3'
(R):5'- AGAGGCAAAGAAGGGTCTCCTCTAC -3'
Sequencing Primer
(F):5'- TTTCTACAGAGGCGCTATCCAAG -3'
(R):5'- AGAAGGGTCTCCTCTACTCAAG -3'
|
| Posted On |
2013-11-08 |
Incidental Mutation