Incidental Mutation 'R3721:Irs1'
ID |
258884 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Irs1
|
Ensembl Gene |
ENSMUSG00000055980 |
Gene Name |
insulin receptor substrate 1 |
Synonyms |
G972R, IRS-1 |
MMRRC Submission |
040712-MU
|
Accession Numbers |
|
Essential gene? |
Possibly essential
(E-score: 0.558)
|
Stock # |
R3721 (G1)
|
Quality Score |
184 |
Status
|
Validated
|
Chromosome |
1 |
Chromosomal Location |
82210822-82269137 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 82267806 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glycine to Serine
at position 137
(G137S)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000063795
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000069799]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably benign
Transcript: ENSMUST00000069799
AA Change: G137S
PolyPhen 2
Score 0.109 (Sensitivity: 0.93; Specificity: 0.86)
|
SMART Domains |
Protein: ENSMUSP00000063795 Gene: ENSMUSG00000055980 AA Change: G137S
Domain | Start | End | E-Value | Type |
PH
|
13 |
117 |
8.13e-14 |
SMART |
low complexity region
|
123 |
143 |
N/A |
INTRINSIC |
IRS
|
155 |
257 |
1.19e-35 |
SMART |
PTBI
|
155 |
257 |
7.8e-60 |
SMART |
low complexity region
|
263 |
276 |
N/A |
INTRINSIC |
low complexity region
|
378 |
399 |
N/A |
INTRINSIC |
low complexity region
|
407 |
419 |
N/A |
INTRINSIC |
low complexity region
|
551 |
568 |
N/A |
INTRINSIC |
low complexity region
|
662 |
689 |
N/A |
INTRINSIC |
low complexity region
|
784 |
794 |
N/A |
INTRINSIC |
low complexity region
|
801 |
810 |
N/A |
INTRINSIC |
low complexity region
|
824 |
837 |
N/A |
INTRINSIC |
low complexity region
|
1019 |
1040 |
N/A |
INTRINSIC |
low complexity region
|
1051 |
1062 |
N/A |
INTRINSIC |
low complexity region
|
1111 |
1127 |
N/A |
INTRINSIC |
low complexity region
|
1185 |
1200 |
N/A |
INTRINSIC |
|
Meta Mutation Damage Score |
0.0682 |
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 97.0%
- 20x: 94.2%
|
Validation Efficiency |
100% (59/59) |
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein which is phosphorylated by insulin receptor tyrosine kinase. Mutations in this gene are associated with type II diabetes and susceptibility to insulin resistance. [provided by RefSeq, Nov 2009] PHENOTYPE: Homozygotes for targeted null mutations exhibit 50 percent reductions in body weights at birth and at 4 months of age, impaired glucose tolerance, and mild insulin and IGF-1 resistance. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 57 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acvr2a |
T |
C |
2: 48,782,150 (GRCm39) |
S228P |
probably damaging |
Het |
Adamts2 |
C |
T |
11: 50,664,038 (GRCm39) |
|
probably benign |
Het |
Arhgap9 |
A |
G |
10: 127,164,840 (GRCm39) |
E588G |
possibly damaging |
Het |
Ash2l |
C |
G |
8: 26,308,653 (GRCm39) |
G453A |
probably damaging |
Het |
Catsperg2 |
A |
G |
7: 29,404,527 (GRCm39) |
V638A |
probably benign |
Het |
Ccrl2 |
T |
C |
9: 110,885,432 (GRCm39) |
D22G |
probably benign |
Het |
Cdc73 |
T |
C |
1: 143,571,191 (GRCm39) |
I83V |
possibly damaging |
Het |
Ceacam23 |
A |
G |
7: 17,636,663 (GRCm39) |
T247A |
probably benign |
Het |
Clec2e |
C |
A |
6: 129,071,373 (GRCm39) |
E155* |
probably null |
Het |
Cyp3a59 |
T |
A |
5: 146,033,407 (GRCm39) |
M181K |
probably damaging |
Het |
Dars2 |
A |
T |
1: 160,890,878 (GRCm39) |
V111E |
probably benign |
Het |
Diras2 |
T |
A |
13: 52,662,059 (GRCm39) |
I83F |
probably damaging |
Het |
Dlg2 |
T |
A |
7: 91,361,008 (GRCm39) |
|
probably null |
Het |
Dnai1 |
G |
A |
4: 41,602,615 (GRCm39) |
R113H |
probably damaging |
Het |
Eeig2 |
C |
T |
3: 108,887,083 (GRCm39) |
R305Q |
probably damaging |
Het |
Emilin2 |
T |
C |
17: 71,580,449 (GRCm39) |
N759S |
probably benign |
Het |
F11 |
A |
G |
8: 45,701,675 (GRCm39) |
S353P |
probably damaging |
Het |
Ggnbp1 |
T |
C |
17: 27,248,587 (GRCm39) |
V52A |
probably benign |
Het |
Gpr171 |
A |
G |
3: 59,005,091 (GRCm39) |
V228A |
possibly damaging |
Het |
Gsta3 |
T |
C |
1: 21,330,313 (GRCm39) |
M55T |
probably benign |
Het |
Hectd3 |
T |
A |
4: 116,856,942 (GRCm39) |
N496K |
probably benign |
Het |
Hp1bp3 |
T |
G |
4: 137,966,919 (GRCm39) |
F367V |
probably damaging |
Het |
Il18rap |
T |
A |
1: 40,576,248 (GRCm39) |
L253Q |
probably damaging |
Het |
Kirrel1 |
C |
T |
3: 86,996,458 (GRCm39) |
M380I |
probably null |
Het |
Lair1 |
A |
C |
7: 4,013,782 (GRCm39) |
L155R |
probably damaging |
Het |
Larp7 |
A |
G |
3: 127,340,460 (GRCm39) |
L126P |
probably damaging |
Het |
Lhx1 |
G |
A |
11: 84,412,654 (GRCm39) |
R89C |
probably damaging |
Het |
Lypd4 |
C |
A |
7: 24,564,884 (GRCm39) |
A85S |
probably benign |
Het |
Mei1 |
A |
G |
15: 81,987,405 (GRCm39) |
H399R |
possibly damaging |
Het |
Myh10 |
G |
T |
11: 68,703,878 (GRCm39) |
R1863L |
probably damaging |
Het |
Myo9a |
G |
A |
9: 59,775,463 (GRCm39) |
V1025I |
probably benign |
Het |
Naa25 |
T |
A |
5: 121,569,619 (GRCm39) |
D659E |
probably benign |
Het |
Nol9 |
A |
G |
4: 152,124,163 (GRCm39) |
S118G |
probably benign |
Het |
Or4k2 |
C |
T |
14: 50,424,137 (GRCm39) |
C179Y |
probably damaging |
Het |
Or5p72 |
G |
T |
7: 108,022,326 (GRCm39) |
D183Y |
probably damaging |
Het |
Pde10a |
T |
A |
17: 9,188,421 (GRCm39) |
I907N |
probably damaging |
Het |
Pkhd1 |
T |
C |
1: 20,655,879 (GRCm39) |
D218G |
probably benign |
Het |
Poll |
A |
G |
19: 45,542,016 (GRCm39) |
I430T |
probably damaging |
Het |
Pomgnt1 |
T |
G |
4: 116,010,740 (GRCm39) |
|
probably benign |
Het |
Rab6b |
T |
C |
9: 103,044,373 (GRCm39) |
|
probably null |
Het |
Rad1 |
T |
C |
15: 10,488,112 (GRCm39) |
S79P |
probably benign |
Het |
Ranbp17 |
GCCTGGATACTGACC |
GCC |
11: 33,169,203 (GRCm39) |
|
probably benign |
Het |
Rcc1 |
T |
C |
4: 132,065,125 (GRCm39) |
K133E |
possibly damaging |
Het |
Ric8a |
T |
C |
7: 140,441,874 (GRCm39) |
|
probably null |
Het |
Rnf135 |
G |
T |
11: 80,087,743 (GRCm39) |
A231S |
probably benign |
Het |
Rps6ka4 |
A |
G |
19: 6,816,645 (GRCm39) |
V146A |
possibly damaging |
Het |
Sh3bp4 |
A |
G |
1: 89,073,050 (GRCm39) |
I633V |
possibly damaging |
Het |
Slc2a2 |
T |
A |
3: 28,781,301 (GRCm39) |
N446K |
probably damaging |
Het |
Slc44a1 |
T |
C |
4: 53,491,445 (GRCm39) |
Y61H |
probably damaging |
Het |
Slc7a1 |
G |
A |
5: 148,272,343 (GRCm39) |
R445* |
probably null |
Het |
Smc5 |
T |
C |
19: 23,187,856 (GRCm39) |
M911V |
probably benign |
Het |
Sntb1 |
C |
A |
15: 55,506,214 (GRCm39) |
R453L |
probably benign |
Het |
Spink4 |
T |
A |
4: 40,929,136 (GRCm39) |
C54S |
probably damaging |
Het |
Srrm2 |
CTCCTCTTCTTCCTCTTCTTCCTC |
CTCCTCTTCTTCCTC |
17: 24,041,549 (GRCm39) |
|
probably benign |
Het |
Trpm1 |
T |
G |
7: 63,867,475 (GRCm39) |
|
probably benign |
Het |
Tufm |
T |
C |
7: 126,089,632 (GRCm39) |
M442T |
probably benign |
Het |
Ubn1 |
A |
G |
16: 4,891,242 (GRCm39) |
N539S |
possibly damaging |
Het |
|
Other mutations in Irs1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00325:Irs1
|
APN |
1 |
82,266,204 (GRCm39) |
missense |
probably benign |
0.01 |
IGL00534:Irs1
|
APN |
1 |
82,266,192 (GRCm39) |
missense |
probably benign |
|
IGL01926:Irs1
|
APN |
1 |
82,267,680 (GRCm39) |
missense |
probably damaging |
0.98 |
IGL02130:Irs1
|
APN |
1 |
82,267,188 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03338:Irs1
|
APN |
1 |
82,266,122 (GRCm39) |
missense |
probably benign |
0.05 |
Hoverboard
|
UTSW |
1 |
82,267,819 (GRCm39) |
nonsense |
probably null |
|
runt
|
UTSW |
1 |
82,265,453 (GRCm39) |
frame shift |
probably null |
|
runt2
|
UTSW |
1 |
82,264,688 (GRCm39) |
nonsense |
probably null |
|
Sprite
|
UTSW |
1 |
82,265,830 (GRCm39) |
nonsense |
probably null |
|
R0019:Irs1
|
UTSW |
1 |
82,264,977 (GRCm39) |
nonsense |
probably null |
|
R0063:Irs1
|
UTSW |
1 |
82,266,580 (GRCm39) |
missense |
probably damaging |
1.00 |
R0063:Irs1
|
UTSW |
1 |
82,266,580 (GRCm39) |
missense |
probably damaging |
1.00 |
R0318:Irs1
|
UTSW |
1 |
82,266,381 (GRCm39) |
missense |
probably benign |
0.01 |
R1199:Irs1
|
UTSW |
1 |
82,267,347 (GRCm39) |
missense |
probably damaging |
1.00 |
R1363:Irs1
|
UTSW |
1 |
82,265,009 (GRCm39) |
missense |
probably benign |
0.02 |
R1584:Irs1
|
UTSW |
1 |
82,267,165 (GRCm39) |
missense |
probably benign |
0.24 |
R1874:Irs1
|
UTSW |
1 |
82,267,574 (GRCm39) |
frame shift |
probably null |
|
R1903:Irs1
|
UTSW |
1 |
82,267,182 (GRCm39) |
missense |
probably damaging |
1.00 |
R1929:Irs1
|
UTSW |
1 |
82,266,180 (GRCm39) |
missense |
probably benign |
|
R1986:Irs1
|
UTSW |
1 |
82,266,486 (GRCm39) |
missense |
probably damaging |
1.00 |
R2136:Irs1
|
UTSW |
1 |
82,267,763 (GRCm39) |
missense |
probably damaging |
1.00 |
R2179:Irs1
|
UTSW |
1 |
82,267,940 (GRCm39) |
missense |
possibly damaging |
0.81 |
R2271:Irs1
|
UTSW |
1 |
82,266,180 (GRCm39) |
missense |
probably benign |
|
R2760:Irs1
|
UTSW |
1 |
82,266,291 (GRCm39) |
missense |
probably damaging |
1.00 |
R3821:Irs1
|
UTSW |
1 |
82,267,770 (GRCm39) |
missense |
probably benign |
|
R4306:Irs1
|
UTSW |
1 |
82,265,685 (GRCm39) |
missense |
probably benign |
0.11 |
R4420:Irs1
|
UTSW |
1 |
82,266,171 (GRCm39) |
missense |
possibly damaging |
0.94 |
R4451:Irs1
|
UTSW |
1 |
82,266,749 (GRCm39) |
missense |
probably benign |
0.00 |
R4479:Irs1
|
UTSW |
1 |
82,265,015 (GRCm39) |
missense |
probably damaging |
1.00 |
R4771:Irs1
|
UTSW |
1 |
82,265,696 (GRCm39) |
missense |
probably benign |
0.00 |
R4782:Irs1
|
UTSW |
1 |
82,265,184 (GRCm39) |
missense |
probably benign |
0.00 |
R4836:Irs1
|
UTSW |
1 |
82,265,453 (GRCm39) |
frame shift |
probably null |
|
R4880:Irs1
|
UTSW |
1 |
82,265,453 (GRCm39) |
frame shift |
probably null |
|
R4881:Irs1
|
UTSW |
1 |
82,265,453 (GRCm39) |
frame shift |
probably null |
|
R5031:Irs1
|
UTSW |
1 |
82,264,688 (GRCm39) |
nonsense |
probably null |
|
R5053:Irs1
|
UTSW |
1 |
82,264,643 (GRCm39) |
missense |
probably benign |
|
R5418:Irs1
|
UTSW |
1 |
82,266,491 (GRCm39) |
missense |
probably damaging |
1.00 |
R5595:Irs1
|
UTSW |
1 |
82,267,646 (GRCm39) |
missense |
probably damaging |
1.00 |
R5698:Irs1
|
UTSW |
1 |
82,266,455 (GRCm39) |
missense |
probably benign |
0.01 |
R6381:Irs1
|
UTSW |
1 |
82,265,405 (GRCm39) |
missense |
possibly damaging |
0.66 |
R6563:Irs1
|
UTSW |
1 |
82,266,128 (GRCm39) |
missense |
probably damaging |
0.98 |
R7002:Irs1
|
UTSW |
1 |
82,265,981 (GRCm39) |
missense |
probably benign |
0.13 |
R7095:Irs1
|
UTSW |
1 |
82,267,819 (GRCm39) |
nonsense |
probably null |
|
R7195:Irs1
|
UTSW |
1 |
82,265,177 (GRCm39) |
missense |
probably benign |
0.13 |
R7216:Irs1
|
UTSW |
1 |
82,267,476 (GRCm39) |
missense |
probably damaging |
0.98 |
R7361:Irs1
|
UTSW |
1 |
82,266,835 (GRCm39) |
nonsense |
probably null |
|
R7490:Irs1
|
UTSW |
1 |
82,264,985 (GRCm39) |
missense |
probably damaging |
0.99 |
R7540:Irs1
|
UTSW |
1 |
82,265,723 (GRCm39) |
missense |
not run |
|
R7706:Irs1
|
UTSW |
1 |
82,265,412 (GRCm39) |
missense |
probably damaging |
1.00 |
R7910:Irs1
|
UTSW |
1 |
82,267,802 (GRCm39) |
missense |
probably benign |
0.06 |
R7912:Irs1
|
UTSW |
1 |
82,267,605 (GRCm39) |
missense |
probably benign |
|
R7962:Irs1
|
UTSW |
1 |
82,266,443 (GRCm39) |
missense |
possibly damaging |
0.57 |
R8139:Irs1
|
UTSW |
1 |
82,267,460 (GRCm39) |
missense |
probably damaging |
1.00 |
R8158:Irs1
|
UTSW |
1 |
82,267,254 (GRCm39) |
missense |
probably damaging |
1.00 |
R8159:Irs1
|
UTSW |
1 |
82,266,290 (GRCm39) |
missense |
probably damaging |
1.00 |
R8187:Irs1
|
UTSW |
1 |
82,266,021 (GRCm39) |
missense |
probably damaging |
1.00 |
R8288:Irs1
|
UTSW |
1 |
82,265,682 (GRCm39) |
nonsense |
probably null |
|
R8436:Irs1
|
UTSW |
1 |
82,267,970 (GRCm39) |
missense |
possibly damaging |
0.96 |
R8865:Irs1
|
UTSW |
1 |
82,265,830 (GRCm39) |
nonsense |
probably null |
|
R8950:Irs1
|
UTSW |
1 |
82,264,652 (GRCm39) |
missense |
probably benign |
|
R9591:Irs1
|
UTSW |
1 |
82,265,969 (GRCm39) |
missense |
probably benign |
0.00 |
X0063:Irs1
|
UTSW |
1 |
82,266,629 (GRCm39) |
missense |
probably damaging |
1.00 |
X0065:Irs1
|
UTSW |
1 |
82,267,086 (GRCm39) |
missense |
probably damaging |
1.00 |
Z1177:Irs1
|
UTSW |
1 |
82,268,115 (GRCm39) |
missense |
probably benign |
0.29 |
Z1177:Irs1
|
UTSW |
1 |
82,266,717 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
Predicted Primers |
PCR Primer
(F):5'- ATTCATCAGCTGCAGCACC -3'
(R):5'- AACATCAACAAGCGGGCTG -3'
Sequencing Primer
(F):5'- GCTGCCTCGGAGTTCAG -3'
(R):5'- AGCGGGCTGACTCCAAGAAC -3'
|
Posted On |
2015-01-23 |