Incidental Mutation 'R5053:Irs1'
| ID |
394719 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Irs1
|
| Ensembl Gene |
ENSMUSG00000055980 |
| Gene Name |
insulin receptor substrate 1 |
| Synonyms |
G972R, IRS-1 |
| MMRRC Submission |
042643-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.558)
|
| Stock # |
R5053 (G1)
|
| Quality Score |
219 |
|
Status
|
Not validated
|
| Chromosome |
1 |
| Chromosomal Location |
82210822-82269137 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 82264643 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Proline
at position 1191
(L1191P)
|
| 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: L1191P
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000063795
Gene: ENSMUSG00000055980
AA Change: L1191P
| 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: 99.3%
- 3x: 98.3%
- 10x: 95.9%
- 20x: 90.6%
|
| 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: 62 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acvrl1 |
A |
T |
15: 101,035,250 (GRCm39) |
I259F |
probably damaging |
Het |
| Adgrf2 |
A |
G |
17: 43,021,334 (GRCm39) |
S497P |
probably damaging |
Het |
| Adsl |
T |
C |
15: 80,844,651 (GRCm39) |
C180R |
probably damaging |
Het |
| Ahctf1 |
A |
G |
1: 179,614,349 (GRCm39) |
I448T |
possibly damaging |
Het |
| Alg9 |
G |
T |
9: 50,699,472 (GRCm39) |
G200W |
probably damaging |
Het |
| Amhr2 |
G |
A |
15: 102,355,693 (GRCm39) |
V213I |
probably damaging |
Het |
| Ankrd44 |
A |
T |
1: 54,774,248 (GRCm39) |
L200* |
probably null |
Het |
| As3mt |
A |
G |
19: 46,697,493 (GRCm39) |
Y87C |
probably damaging |
Het |
| Bcl11a |
C |
A |
11: 24,114,068 (GRCm39) |
F470L |
probably benign |
Het |
| Cacna2d2 |
A |
T |
9: 107,392,063 (GRCm39) |
Y468F |
probably damaging |
Het |
| Cep250 |
A |
G |
2: 155,804,848 (GRCm39) |
D71G |
possibly damaging |
Het |
| Clca4b |
T |
C |
3: 144,616,882 (GRCm39) |
T923A |
probably benign |
Het |
| Clec16a |
T |
C |
16: 10,394,461 (GRCm39) |
L273P |
probably damaging |
Het |
| Comtd1 |
T |
C |
14: 21,897,764 (GRCm39) |
D123G |
probably damaging |
Het |
| Cpa5 |
A |
T |
6: 30,623,271 (GRCm39) |
E144V |
probably damaging |
Het |
| Cyp2c37 |
G |
A |
19: 39,990,331 (GRCm39) |
S343N |
probably benign |
Het |
| Dennd6a |
C |
A |
14: 26,329,738 (GRCm39) |
T103K |
probably damaging |
Het |
| Ect2l |
A |
G |
10: 18,016,093 (GRCm39) |
L733P |
probably damaging |
Het |
| Erg |
T |
A |
16: 95,325,393 (GRCm39) |
H11L |
probably benign |
Het |
| Ero1b |
T |
C |
13: 12,614,795 (GRCm39) |
L253P |
probably damaging |
Het |
| Etfbkmt |
T |
A |
6: 149,048,766 (GRCm39) |
L135* |
probably null |
Het |
| Frmd4a |
A |
T |
2: 4,608,732 (GRCm39) |
T867S |
probably damaging |
Het |
| Gm815 |
C |
T |
19: 26,863,813 (GRCm39) |
A18V |
unknown |
Het |
| Gna12 |
C |
A |
5: 140,746,482 (GRCm39) |
R321L |
probably benign |
Het |
| Herc1 |
A |
T |
9: 66,377,608 (GRCm39) |
K3458M |
possibly damaging |
Het |
| Kcp |
G |
T |
6: 29,496,957 (GRCm39) |
Q551K |
probably benign |
Het |
| Klhl11 |
C |
T |
11: 100,363,026 (GRCm39) |
V177M |
probably damaging |
Het |
| Klk14 |
G |
A |
7: 43,341,501 (GRCm39) |
C51Y |
probably damaging |
Het |
| Llcfc1 |
A |
G |
6: 41,662,269 (GRCm39) |
H91R |
possibly damaging |
Het |
| Lmnb2 |
A |
T |
10: 80,740,489 (GRCm39) |
M223K |
probably damaging |
Het |
| Mbd6 |
C |
T |
10: 127,122,310 (GRCm39) |
V173I |
probably benign |
Het |
| Mme |
T |
A |
3: 63,272,270 (GRCm39) |
V623E |
probably damaging |
Het |
| Ndc1 |
T |
C |
4: 107,231,415 (GRCm39) |
S119P |
probably damaging |
Het |
| Nfs1 |
A |
C |
2: 155,968,318 (GRCm39) |
C383G |
probably damaging |
Het |
| Nphp4 |
A |
G |
4: 152,628,919 (GRCm39) |
|
probably null |
Het |
| Oca2 |
C |
A |
7: 55,973,328 (GRCm39) |
Q411K |
probably benign |
Het |
| Or10ab4 |
A |
G |
7: 107,654,741 (GRCm39) |
H184R |
probably benign |
Het |
| Or11h23 |
T |
A |
14: 50,947,968 (GRCm39) |
Y60* |
probably null |
Het |
| Or1ad1 |
G |
A |
11: 50,876,137 (GRCm39) |
G203D |
probably damaging |
Het |
| Or4c15 |
C |
A |
2: 88,760,597 (GRCm39) |
V21F |
probably benign |
Het |
| Or8k25 |
A |
G |
2: 86,243,682 (GRCm39) |
F238S |
probably damaging |
Het |
| Pcdh7 |
A |
T |
5: 57,878,943 (GRCm39) |
T493S |
probably damaging |
Het |
| Phf20 |
T |
C |
2: 156,115,782 (GRCm39) |
S368P |
probably benign |
Het |
| Pla2g2e |
T |
G |
4: 138,607,686 (GRCm39) |
V22G |
possibly damaging |
Het |
| Plxna1 |
A |
T |
6: 89,299,442 (GRCm39) |
H1736Q |
probably damaging |
Het |
| Prlr |
C |
A |
15: 10,325,471 (GRCm39) |
Q215K |
probably benign |
Het |
| Prpf6 |
T |
C |
2: 181,291,246 (GRCm39) |
V687A |
probably benign |
Het |
| Ptprq |
T |
A |
10: 107,399,063 (GRCm39) |
T1951S |
probably damaging |
Het |
| Sec31a |
G |
T |
5: 100,541,073 (GRCm39) |
Q345K |
possibly damaging |
Het |
| Serpina3k |
T |
C |
12: 104,309,473 (GRCm39) |
|
probably null |
Het |
| Sertad3 |
T |
A |
7: 27,175,947 (GRCm39) |
V127E |
probably benign |
Het |
| Sf3b1 |
A |
T |
1: 55,036,336 (GRCm39) |
N912K |
probably benign |
Het |
| Shq1 |
A |
G |
6: 100,632,220 (GRCm39) |
L202P |
probably damaging |
Het |
| Sp8 |
C |
T |
12: 118,813,339 (GRCm39) |
T398M |
probably damaging |
Het |
| Tmem150c |
A |
T |
5: 100,231,599 (GRCm39) |
D125E |
probably benign |
Het |
| Trim3 |
G |
T |
7: 105,266,968 (GRCm39) |
D470E |
probably damaging |
Het |
| Ubap1 |
T |
A |
4: 41,387,315 (GRCm39) |
C88* |
probably null |
Het |
| Unc79 |
T |
A |
12: 103,071,007 (GRCm39) |
D1124E |
probably damaging |
Het |
| Usf3 |
T |
C |
16: 44,037,550 (GRCm39) |
S677P |
probably benign |
Het |
| Vmn1r76 |
T |
C |
7: 11,664,241 (GRCm39) |
|
probably null |
Het |
| Zfp819 |
C |
T |
7: 43,266,570 (GRCm39) |
T275I |
probably damaging |
Het |
| Zranb2 |
T |
A |
3: 157,246,796 (GRCm39) |
D161E |
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 |
|
|
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'- ACCCCATGGTAAAAGCACTTTTG -3'
(R):5'- AATACGGTGCCCTTTGGAGC -3'
Sequencing Primer
(F):5'- CCATGGTAAAAGCACTTTTGTCTTC -3'
(R):5'- GGATGTAAAACGCCACAGCTCTG -3'
|
| Posted On |
2016-06-15 |
Incidental Mutation