Incidental Mutation 'R6500:Isyna1'
| ID |
519677 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Isyna1
|
| Ensembl Gene |
ENSMUSG00000019139 |
| Gene Name |
myo-inositol 1-phosphate synthase A1 |
| Synonyms |
1300017C10Rik, inositol-3-phosphate synthase 1, myo-inositol 1-phosphate synthase A1 |
| MMRRC Submission |
044632-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.383)
|
| Stock # |
R6500 (G1)
|
| Quality Score |
138.008 |
|
Status
|
Validated
|
| Chromosome |
8 |
| Chromosomal Location |
71047131-71049940 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 71047339 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Valine
at position 21
(I21V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000148077
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000019283]
[ENSMUST00000049908]
[ENSMUST00000093454]
[ENSMUST00000209285]
[ENSMUST00000210005]
[ENSMUST00000211117]
[ENSMUST00000210369]
[ENSMUST00000210580]
[ENSMUST00000211197]
[ENSMUST00000211608]
|
| AlphaFold |
Q9JHU9 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000019283
AA Change: I21V
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000019283
Gene: ENSMUSG00000019139
AA Change: I21V
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
44 |
54 |
N/A |
INTRINSIC |
|
Pfam:NAD_binding_5
|
59 |
491 |
4.4e-141 |
PFAM |
|
Pfam:Inos-1-P_synth
|
307 |
420 |
6.3e-48 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000049908
|
| SMART Domains |
Protein: ENSMUSP00000059039
Gene: ENSMUSG00000070003
| Domain | Start | End | E-Value | Type |
|---|
|
LisH
|
16 |
48 |
2.18e-3 |
SMART |
|
Pfam:SSDP
|
81 |
123 |
6.7e-15 |
PFAM |
|
Pfam:SSDP
|
121 |
338 |
1.3e-59 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000093454
|
| SMART Domains |
Protein: ENSMUSP00000091163
Gene: ENSMUSG00000070002
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:ELL
|
6 |
289 |
2.2e-107 |
PFAM |
|
low complexity region
|
403 |
416 |
N/A |
INTRINSIC |
|
low complexity region
|
427 |
445 |
N/A |
INTRINSIC |
|
low complexity region
|
447 |
471 |
N/A |
INTRINSIC |
|
Pfam:Occludin_ELL
|
494 |
595 |
6.4e-36 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000209285
AA Change: I21V
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000209430
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000209751
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000210005
AA Change: I21V
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000211117
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000211501
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000210382
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000211134
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000211488
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000210305
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000210699
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000210358
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000210878
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000210369
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000210580
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000211197
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000211608
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000210006
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000211773
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.2%
- 20x: 95.0%
|
| Validation Efficiency |
98% (53/54) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes an inositol-3-phosphate synthase enzyme. The encoded protein plays a critical role in the myo-inositol biosynthesis pathway by catalyzing the rate-limiting conversion of glucose 6-phosphate to myoinositol 1-phosphate. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene, and a pseudogene of this gene is located on the short arm of chromosome 4. [provided by RefSeq, Nov 2011]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 54 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam21 |
A |
G |
12: 81,606,380 (GRCm39) |
F461L |
probably benign |
Het |
| Adamtsl3 |
C |
A |
7: 82,227,818 (GRCm39) |
H1334Q |
probably benign |
Het |
| Adgrf1 |
A |
G |
17: 43,621,263 (GRCm39) |
N500S |
probably damaging |
Het |
| Afdn |
A |
G |
17: 14,042,634 (GRCm39) |
D335G |
possibly damaging |
Het |
| Arhgap19 |
G |
A |
19: 41,775,077 (GRCm39) |
T178M |
probably damaging |
Het |
| Chac2 |
T |
C |
11: 30,927,625 (GRCm39) |
D86G |
probably damaging |
Het |
| Clhc1 |
T |
C |
11: 29,510,542 (GRCm39) |
S209P |
possibly damaging |
Het |
| Col1a2 |
G |
A |
6: 4,515,517 (GRCm39) |
G127S |
unknown |
Het |
| Coro2b |
A |
G |
9: 62,396,606 (GRCm39) |
F51L |
probably benign |
Het |
| Cux2 |
A |
G |
5: 122,002,789 (GRCm39) |
S1139P |
probably benign |
Het |
| Cyth3 |
A |
T |
5: 143,693,595 (GRCm39) |
I379F |
probably damaging |
Het |
| Dock2 |
A |
T |
11: 34,312,822 (GRCm39) |
L240H |
possibly damaging |
Het |
| Ercc6 |
A |
G |
14: 32,248,780 (GRCm39) |
K444E |
probably damaging |
Het |
| Fam3b |
A |
G |
16: 97,302,101 (GRCm39) |
L52P |
possibly damaging |
Het |
| Fat4 |
T |
G |
3: 39,035,418 (GRCm39) |
Y3023* |
probably null |
Het |
| Gad1 |
A |
T |
2: 70,423,780 (GRCm39) |
N396Y |
probably damaging |
Het |
| Gbp2b |
A |
G |
3: 142,317,252 (GRCm39) |
E536G |
probably benign |
Het |
| Gm11564 |
G |
A |
11: 99,706,061 (GRCm39) |
T123I |
unknown |
Het |
| Herc2 |
G |
T |
7: 55,796,393 (GRCm39) |
E1922* |
probably null |
Het |
| Hrh4 |
G |
T |
18: 13,155,525 (GRCm39) |
V355F |
probably damaging |
Het |
| Jak1 |
T |
C |
4: 101,039,130 (GRCm39) |
D165G |
probably benign |
Het |
| Klhl38 |
C |
A |
15: 58,185,809 (GRCm39) |
G307* |
probably null |
Het |
| Krt77 |
T |
C |
15: 101,772,772 (GRCm39) |
N269S |
probably damaging |
Het |
| Lrp4 |
T |
A |
2: 91,322,765 (GRCm39) |
I1118N |
possibly damaging |
Het |
| Ly6i |
T |
C |
15: 74,853,833 (GRCm39) |
Y30C |
probably damaging |
Het |
| Magi2 |
A |
G |
5: 20,807,345 (GRCm39) |
E620G |
possibly damaging |
Het |
| Mbl2 |
A |
G |
19: 30,216,839 (GRCm39) |
D217G |
possibly damaging |
Het |
| Mogat2 |
T |
A |
7: 98,871,553 (GRCm39) |
I253F |
probably benign |
Het |
| Mpped2 |
T |
C |
2: 106,691,925 (GRCm39) |
L210P |
probably damaging |
Het |
| Nav3 |
C |
A |
10: 109,600,617 (GRCm39) |
A1337S |
probably damaging |
Het |
| Ncaph2 |
T |
A |
15: 89,248,407 (GRCm39) |
V206E |
probably benign |
Het |
| Nlgn1 |
T |
C |
3: 25,488,094 (GRCm39) |
E747G |
possibly damaging |
Het |
| Nlrc3 |
C |
T |
16: 3,770,308 (GRCm39) |
G237D |
possibly damaging |
Het |
| Nsun7 |
A |
G |
5: 66,452,827 (GRCm39) |
D514G |
probably benign |
Het |
| Or10al5 |
C |
G |
17: 38,063,577 (GRCm39) |
D277E |
probably damaging |
Het |
| Pals2 |
A |
G |
6: 50,175,146 (GRCm39) |
K500E |
possibly damaging |
Het |
| Pcnx2 |
C |
A |
8: 126,480,224 (GRCm39) |
V2028F |
probably damaging |
Het |
| Pdx1 |
G |
T |
5: 147,207,440 (GRCm39) |
W131L |
probably damaging |
Het |
| Pkdrej |
C |
T |
15: 85,703,747 (GRCm39) |
V730I |
probably damaging |
Het |
| Plcg1 |
T |
A |
2: 160,596,487 (GRCm39) |
Y669N |
probably damaging |
Het |
| Plpp1 |
G |
T |
13: 113,003,454 (GRCm39) |
W226L |
probably damaging |
Het |
| Sfxn1 |
G |
A |
13: 54,242,918 (GRCm39) |
V59I |
probably benign |
Het |
| Shank1 |
T |
C |
7: 43,976,645 (GRCm39) |
I581T |
unknown |
Het |
| Slc35f6 |
A |
C |
5: 30,814,164 (GRCm39) |
K150N |
possibly damaging |
Het |
| Slc5a7 |
A |
T |
17: 54,591,231 (GRCm39) |
S234T |
probably benign |
Het |
| Smg6 |
C |
T |
11: 74,821,331 (GRCm39) |
T534I |
possibly damaging |
Het |
| Ush2a |
C |
T |
1: 188,573,724 (GRCm39) |
T3649I |
probably benign |
Het |
| Vmn1r158 |
T |
C |
7: 22,490,078 (GRCm39) |
T44A |
possibly damaging |
Het |
| Vmn1r217 |
A |
T |
13: 23,298,073 (GRCm39) |
Y276* |
probably null |
Het |
| Vmn2r100 |
T |
A |
17: 19,742,355 (GRCm39) |
I243N |
probably damaging |
Het |
| Vwde |
T |
C |
6: 13,208,404 (GRCm39) |
|
probably null |
Het |
| Washc4 |
C |
A |
10: 83,394,687 (GRCm39) |
P306T |
probably damaging |
Het |
| Wdhd1 |
C |
T |
14: 47,488,217 (GRCm39) |
|
probably null |
Het |
| Xpo6 |
T |
C |
7: 125,770,262 (GRCm39) |
|
probably benign |
Het |
|
| Other mutations in Isyna1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01363:Isyna1
|
APN |
8 |
71,047,372 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL01670:Isyna1
|
APN |
8 |
71,049,706 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02003:Isyna1
|
APN |
8 |
71,049,407 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
IGL02321:Isyna1
|
APN |
8 |
71,048,920 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02649:Isyna1
|
APN |
8 |
71,048,904 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0629:Isyna1
|
UTSW |
8 |
71,047,358 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0976:Isyna1
|
UTSW |
8 |
71,048,936 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1186:Isyna1
|
UTSW |
8 |
71,047,851 (GRCm39) |
missense |
probably benign |
|
|
R4869:Isyna1
|
UTSW |
8 |
71,049,412 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R4901:Isyna1
|
UTSW |
8 |
71,049,246 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4941:Isyna1
|
UTSW |
8 |
71,048,146 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5141:Isyna1
|
UTSW |
8 |
71,047,543 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5719:Isyna1
|
UTSW |
8 |
71,047,352 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8095:Isyna1
|
UTSW |
8 |
71,049,035 (GRCm39) |
nonsense |
probably null |
|
|
R8957:Isyna1
|
UTSW |
8 |
71,049,372 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9479:Isyna1
|
UTSW |
8 |
71,048,193 (GRCm39) |
missense |
probably damaging |
0.99 |
|
| Predicted Primers |
PCR Primer
(F):5'- AGTCTGATCCAACTCTGGGC -3'
(R):5'- TATTCTCCTAGTAGCCACGGC -3'
Sequencing Primer
(F):5'- GGCCGGTAAGTACGAACCTATC -3'
(R):5'- TTGGCCAGAACAGCAGC -3'
|
| Posted On |
2018-06-06 |
Incidental Mutation