Incidental Mutation 'R7962:Irs1'
ID |
650144 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Irs1
|
Ensembl Gene |
ENSMUSG00000055980 |
Gene Name |
insulin receptor substrate 1 |
Synonyms |
G972R, IRS-1 |
Accession Numbers |
|
Essential gene? |
Possibly essential
(E-score: 0.620)
|
Stock # |
R7962 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
1 |
Chromosomal Location |
82210822-82269137 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 82266443 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Arginine to Histidine
at position 591
(R591H)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000063795
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000069799]
|
AlphaFold |
no structure available at present |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000069799
AA Change: R591H
PolyPhen 2
Score 0.568 (Sensitivity: 0.88; Specificity: 0.91)
|
SMART Domains |
Protein: ENSMUSP00000063795 Gene: ENSMUSG00000055980 AA Change: R591H
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 |
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.2%
|
Validation Efficiency |
|
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 |
Adgrg6 |
A |
G |
10: 14,296,428 (GRCm39) |
F991L |
probably damaging |
Het |
Ahnak |
A |
G |
19: 8,990,164 (GRCm39) |
D3816G |
unknown |
Het |
Arhgdig |
T |
C |
17: 26,418,608 (GRCm39) |
T153A |
probably damaging |
Het |
Ash2l |
T |
C |
8: 26,329,792 (GRCm39) |
D122G |
probably damaging |
Het |
Bora |
A |
G |
14: 99,310,162 (GRCm39) |
K497R |
probably benign |
Het |
Btbd9 |
T |
C |
17: 30,736,177 (GRCm39) |
H312R |
probably damaging |
Het |
Cbr2 |
T |
C |
11: 120,620,609 (GRCm39) |
D225G |
probably benign |
Het |
Cemip |
C |
A |
7: 83,652,616 (GRCm39) |
|
probably benign |
Het |
Cfap70 |
G |
A |
14: 20,486,854 (GRCm39) |
T275M |
probably benign |
Het |
Clca4b |
T |
C |
3: 144,622,421 (GRCm39) |
D548G |
possibly damaging |
Het |
Ctsf |
T |
G |
19: 4,906,567 (GRCm39) |
F165V |
probably damaging |
Het |
Cyp3a44 |
T |
A |
5: 145,738,135 (GRCm39) |
I57L |
probably benign |
Het |
Dbx2 |
C |
T |
15: 95,552,199 (GRCm39) |
G149S |
probably benign |
Het |
Dennd2a |
A |
G |
6: 39,457,207 (GRCm39) |
V745A |
possibly damaging |
Het |
Dock10 |
A |
T |
1: 80,564,085 (GRCm39) |
S509R |
possibly damaging |
Het |
Enpp3 |
T |
C |
10: 24,660,752 (GRCm39) |
Y630C |
probably damaging |
Het |
Eomes |
C |
T |
9: 118,307,574 (GRCm39) |
|
probably benign |
Het |
Fchsd1 |
A |
T |
18: 38,097,212 (GRCm39) |
V385E |
probably damaging |
Het |
Flg |
A |
T |
3: 93,193,984 (GRCm39) |
H34L |
unknown |
Het |
Frs3 |
G |
T |
17: 48,010,463 (GRCm39) |
E32D |
possibly damaging |
Het |
Gm14443 |
C |
T |
2: 175,012,035 (GRCm39) |
C137Y |
probably benign |
Het |
H3c13 |
C |
A |
3: 96,176,309 (GRCm39) |
Y100* |
probably null |
Het |
Havcr1 |
T |
A |
11: 46,643,402 (GRCm39) |
C107* |
probably null |
Het |
Hectd4 |
C |
T |
5: 121,448,692 (GRCm39) |
R347W |
probably damaging |
Het |
Hspbp1 |
A |
G |
7: 4,684,841 (GRCm39) |
|
probably null |
Het |
Kif5b |
A |
G |
18: 6,241,040 (GRCm39) |
V23A |
probably benign |
Het |
Myo1e |
A |
T |
9: 70,242,501 (GRCm39) |
I339F |
possibly damaging |
Het |
Nkx2-5 |
T |
C |
17: 27,058,150 (GRCm39) |
Y268C |
probably damaging |
Het |
Or7g12 |
T |
C |
9: 18,899,952 (GRCm39) |
S223P |
probably damaging |
Het |
Polrmt |
T |
C |
10: 79,574,623 (GRCm39) |
M857V |
probably damaging |
Het |
Prkd3 |
T |
A |
17: 79,315,691 (GRCm39) |
M1L |
not run |
Het |
Prss3b |
A |
C |
6: 41,012,387 (GRCm39) |
F9C |
probably benign |
Het |
Psmc3 |
T |
A |
2: 90,887,007 (GRCm39) |
V202E |
possibly damaging |
Het |
Rab3d |
G |
A |
9: 21,826,229 (GRCm39) |
R93C |
probably damaging |
Het |
Rasgrf2 |
A |
C |
13: 92,167,300 (GRCm39) |
Y258D |
probably damaging |
Het |
Rassf8 |
G |
A |
6: 145,761,669 (GRCm39) |
|
probably null |
Het |
Rcbtb1 |
A |
C |
14: 59,459,016 (GRCm39) |
S199R |
probably benign |
Het |
Rif1 |
T |
G |
2: 51,964,288 (GRCm39) |
V45G |
probably damaging |
Het |
Riok3 |
G |
A |
18: 12,269,776 (GRCm39) |
G69E |
probably benign |
Het |
Scn1a |
A |
G |
2: 66,158,786 (GRCm39) |
L378P |
probably damaging |
Het |
Sil1 |
A |
T |
18: 35,481,719 (GRCm39) |
N113K |
probably benign |
Het |
Slc35c2 |
C |
T |
2: 165,119,462 (GRCm39) |
D293N |
probably damaging |
Het |
Slc37a3 |
A |
T |
6: 39,324,325 (GRCm39) |
S308T |
possibly damaging |
Het |
Smarca5 |
A |
T |
8: 81,463,388 (GRCm39) |
V60E |
probably benign |
Het |
Smok3c |
T |
A |
5: 138,063,341 (GRCm39) |
V276D |
probably damaging |
Het |
Snx29 |
G |
A |
16: 11,231,221 (GRCm39) |
|
probably null |
Het |
Spata24 |
T |
C |
18: 35,795,093 (GRCm39) |
E30G |
probably damaging |
Het |
Stard13 |
T |
A |
5: 150,975,838 (GRCm39) |
I777F |
probably damaging |
Het |
Synpo2 |
A |
G |
3: 123,029,635 (GRCm39) |
C8R |
probably benign |
Het |
Tmem104 |
T |
C |
11: 115,134,307 (GRCm39) |
V281A |
probably damaging |
Het |
Tmprss11a |
C |
T |
5: 86,567,879 (GRCm39) |
G283R |
probably damaging |
Het |
Trpc2 |
G |
A |
7: 101,738,388 (GRCm39) |
V457M |
probably benign |
Het |
Usp53 |
A |
T |
3: 122,728,000 (GRCm39) |
S861T |
possibly damaging |
Het |
Uty |
G |
T |
Y: 1,154,210 (GRCm39) |
S738* |
probably null |
Het |
Wdr17 |
C |
T |
8: 55,113,806 (GRCm39) |
|
probably null |
Het |
Wdr7 |
A |
T |
18: 64,037,157 (GRCm39) |
S1194C |
probably damaging |
Het |
Zyx |
A |
C |
6: 42,333,505 (GRCm39) |
D477A |
probably 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 |
R3721:Irs1
|
UTSW |
1 |
82,267,806 (GRCm39) |
missense |
probably benign |
0.11 |
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 |
|
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'- TCATGTAGCCATTGGGGTCC -3'
(R):5'- TCCTACCATTTCCCATCAGAAG -3'
Sequencing Primer
(F):5'- GTAGCCATTGGGGTCCACTCTC -3'
(R):5'- GACCCCCTCACAGTCTTCAGTG -3'
|
Posted On |
2020-09-15 |